View all genomic variants

86 entries on 1 page. Showing entries 1 - 86.
Legend  

Variant ID     

Effect     

Chr     

AscendingDNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

IthaID     

Cytogenetic_Location     

Inheritance     

Owner     
0000000091 ./. 1 NC_000001.11:g.11992659C>T - MFN2_000001 rs119103263 - - - - - Panayiotis Laouris
0000000066 ./. 1 NC_000001.11:g.159588468A>G Abdelhadi O. (2016) APCS_000001 rs2808661 - - - - - Panayiotis Laouris
0000000090 ./. 1 NC_000001.11:g.161306886G>T - MPZ_000001 rs121913584 - - - - - Panayiotis Laouris
0000000081 ./. 1 NC_000001.11:g.196690107C>T Sardell RJ et al. (2016) CFH_000001 - - - - - - Georgia Charalambous
0000000067 ./. 1 NC_000001.11:g.22638945A>G Dardiotis E. (2009) C1QA_000001 rs172378 - - - - - Panayiotis Laouris
0000000076 ./. 2 NC_000002.12:g.44312653T>A - SLC3A1_000001 - - - - - - Georgia Charalambous
0000000013 +/+ 2 g.20763686delC Lerer et al. (2001) SRD5A2_000002 rs35887622 - - IthaID 1 - - Savvas Nikolaou
0000000012 ./. 2 g.31754489C>T - SRD5A2_000001 rs121434250 - - - - - Savvas Nikolaou
0000000020 ./. 2 g.71187092C>T Elia et al. (2011) ATP6V1B1_000001 rs782500780 - - - - - Savvas Nikolaou
0000000004 +/. 2 g.228168732C>A Bullich et al. (2015) COL4A3_000001 - 70.7% - - - - Savvas Nikolaou
0000000077 ./. 3 NC_000003.12:g.33016743C>T Suzuki Y et al. (1993) Oshima A et al. (1991) Mosna G et al. (1992) GLB1_000002 - - - - - - Georgia Charalambous
0000000009 ./. 3 g.33114036G>A Chakraborty et al. (1994) GLB1_000001 rs72555393 - - - - - Savvas Nikolaou
0000000075 ./. 4 NC_000004.12:g.88043351C>T - PKD2_000002 - - - - - - Georgia Charalambous
0000000024 +/. 4 g.71552_3375637del Deciphering Developmental Disorders Study (2015) HTT_000001 - - - - - - Savvas Nikolaou
0000000003 +/. 4 g.88986631C>T Mochizuki et al. (1996) PKD2_000001 rs121918040 - - - - - Savvas Nikolaou
0000000008 ./. 5 g.73992881A>G Zhang et al. (1995) HEXB_000001 rs820878 - - - - - Savvas Nikolaou
0000000015 +/+ 5 g.112173598delA Bunyan et al. (1995) APC_000001 rs2229993 - - - - - Savvas Nikolaou
0000000092 ./. 6 NC_000006.12:g.26090951C>G Katsarou et al. (2016) HFE_000003 rs1799945 - - - - - Panayiotis Laouris
0000000078 ./. 6 NC_000006.12:g.26092913G>A Mikhailova SV et al. (2016) Pirpamer L et al. (2016) Katsarou MS at al. (2016) HFE_000002 - - - - - - Georgia Charalambous
0000000011 ./. 6 g.32007887G>A Coeli et al. (2010) CYP21A2_000001 rs6471 - - - - - Savvas Nikolaou
0000000061 ./. 7 NC_000007.14:g.117540178delT Schwartz KM et al. (2009); Claustres M et al. (1992); CFTR_000002 - - - - - - Georgia Charalambous
0000000063 ./. 7 NC_000007.14:g.117559592_117559594delCTT Quint et al. (2005) CFTR_000004 rs113993960 - - - - Georgia Georgia Charalambous
0000000065 ./. 7 NC_000007.14:g.117587800G>A Takano H (1991) CFTR_000006 - - - - - - Georgia Charalambous
0000000064 ./. 7 NC_000007.14:g.117652877C>G McDonagh EM et al. (2015) CFTR_000005 - - - - - - Georgia Charalambous
0000000001 +/. 7 g.117559592_117559594delCTT Quint et al. (2005) CFTR_000001 rs113993960 50% CFTR in CY - - - - Savvas Nikolaou
0000000016 +?/? 8 g.72127864G>A - EYA1_000001 rs140365206 - - - - - Savvas Nikolaou
0000000005 +/. 9 g.71652203_71652205[(750_850)] Campuzano et al. (1996) FXN_000001 rs104894105 - - - - - Savvas Nikolaou
0000000023 ./. 10 g.43609096T>A Neocleous et al. (2011) RET_000001 rs76262710 - - - - - Savvas Nikolaou
0000000036 ./. 11 g.63632_71046del7414 Ribeiro et al. (1997) HBB_000011 - - - IthaID 1399 - autosomal dominant Savvas Nikolaou
0000000038 ./. 11 g.64336_77738del13403 Fritsch et al. (1979); Ottolenghi et al. (1979);Henthorn et al. (1990) HBB_000013 - - - IthaID 1507 - autosomal recessive Savvas Nikolaou
0000000042 ./. 11 g.5225678C>A Lehmann (1958); Schneider et al. (1968); Ozsoylu et al. (1970); Kountouris et al. (2016) HBB_000016 rs33946267 - - IthaID 1217 - autosomal dominant Savvas Nikolaou
0000000032 ./. 11 g.5225729G>C Gonzalez-Redondo et al. (1988); Wong et al. (1989) HBB_000008 rs33913413 - - IthaID 221 - autosomal recessive Savvas Nikolaou
0000000030 ./. 11 g.5225832G>C Orkin et al. (1981) HBB_000006 rs34690599 - - IthaID 214 - autosomal recessive Savvas Nikolaou
0000000037 ./. 11 g.5226576C>A Baird et al. (1981); Treisman et al. (1982) HBB_000012 rs33945777 - - IthaID 200 - autosomal recessive Savvas Nikolaou
0000000035 ./. 11 g.5226757delG Kinniburgh et al. (1982); Rund et al. (1991) HBB_000010 rs80356820 - - IthaID 151 - autosomal recessive Savvas Nikolaou
0000000027 ./. 11 g.5226924A>G Orkin et al. (1982);Tamagnini et al. (1983) HBB_000003 rs35724775 - - - - - Savvas Nikolaou
0000000025 ./. 11 g.5226929C>A Spritz et al. (1981); Westaway et al. (1981) HBB_000001 rs33971440 - - - - - Savvas Nikolaou
0000000043 ./. 11 g.5226940C>A Arous et al. (1982); Fessas et al. (1982);Orkin et al. (1984);Baklouti et al. (1986);Kountouris et al. (2016) HBB_000017 rs35424040 - - IthaID 91 - autosomal recessive Savvas Nikolaou
0000000028 ./. 11 g.5226996_5226997delTT Orkin et al. (1981); Filon et al. (1995) HBB_000004 rs35497102 - - - - - Savvas Nikolaou
0000000029 ./. 11 g.5227002delT Chang et al. (1983); Kazanian et al. (1983); Petkov et al. (1990) HBB_000005 rs63749819 - - - - - Savvas Nikolaou
0000000033 ./. 11 g.5227002delT Chang et al. (1983); Kazazian et al. (1983);Kazazian et al. (1983);Kazazian et al. (1983) HBB_000005 rs63749819 - - IthaID 57 - autosomal recessive Savvas Nikolaou
0000000034 ./. 11 g.5227002T>A Ingram et al. (1956); Ingram et al. (1959);Wishner et al. (1975) HBB_000009 rs334 - - IthaID 821 - autosomal recessive Savvas Nikolaou
0000000039 ./. 11 g.5227039G>C Ho et al. (1996) HBB_000014 rs34135787 - - IthaID 39 - autosomal recessive Savvas Nikolaou
0000000031 ./. 11 g.5227158G>A Coleman et al. (1992) HBB_000007 rs33941377 - - IthaID 12 - autosomal recessive Savvas Nikolaou
0000000040 ./. 11 g.5227172G>A Gonzalez-Redondo et al. (1989);Maragoudaki et al. (1999);Kountouris et al. (2016) HBB_000015 rs63751208 - - IthaID 3 - autosomal recessive Savvas Nikolaou
0000000041 ./. 11 g.5227172G>A Kountouris et al. (2016); De Angioletti et al. (1992);Kutlar et al. (1989);Rahbar et al. (1984) HBB_000015 rs33947415 - - IthaID 1030 - autosomal dominant Savvas Nikolaou
0000000026 ./. 11 c.118C>T Orkin et al. (1981); Trecartin et al. (1981); Gorski et al. (1982) HBB_000002 rs11549407 - - - - - Savvas Nikolaou
0000000086 ./. 12 NC_000012.12:g.102840507G>A - PAH_000004 rs5030857 - - - - - Panayiotis Laouris
0000000085 ./. 12 NC_000012.12:g.102851701C>A - PAH_000003 - - - - - - Georgia Charalambous
0000000083 ./. 12 NC_000012.12:g.102852935C>T - PAH_000001 - - - - - - Georgia Charalambous
0000000084 ./. 12 NC_000012.12:g.102855309T>C - PAH_000002 rs77958223 - - - - - Panayiotis Laouris
0000000022 ./. 13 g.20763686delC Neocleous et al. (2006) GJB2_000001 rs80338939 2.5% - - - - Savvas Nikolaou
0000000014 -/. 13 g.32953455G>T Karchin et al. (2008) BRCA2_000001 rs15869 - - - - - Savvas Nikolaou
0000000089 ./. 15 NC_000015.10:g.72375895C>T - HEXA_000001 rs121907964 - - - - - Panayiotis Laouris
0000000082 ./. 16 NC_000016.10:g.2090468A>T - PKD1_000001 - - - - - - Georgia Charalambous
0000000073 ./. 16 NC_000016.10:g.3243205C>T Bernot A et al (1998) MEFV_000007 - - - - - - Georgia Charalambous
0000000068 ./. 16 NC_000016.10:g.3243310A>G Zaks N et al. (2003) Coşkun S et al. (2016) MEFV_000002 - - - - - - Georgia Charalambous
0000000069 ./. 16 NC_000016.10:g.3243407T>C Coşkun S et al. (2016) MEFV_000003 - - - - - - Georgia Charalambous
0000000074 ./. 16 NC_000016.10:g.3243447C>T Xiong S et al. (2017) MEFV_000008 - - - - - - Georgia Charalambous
0000000071 ./. 16 NC_000016.10:g.3247166G>T Bernot A et al. (1998) MEFV_000005 - - - - - - Georgia Charalambous
0000000070 ./. 16 NC_000016.10:g.3254567C>G Bernot A (1998) MEFV_000004 - - - - - - Georgia Charalambous
0000000072 ./. 16 NC_000016.10:g.3254626C>G Gershoni-Baruch R et al. (2002) MEFV_000006 - - - - - - Georgia Charalambous
0000000045 ./. 16 g.10864_40864del30001 Pressley et al. (1980); Kountouris et al. (2016) HBA1_000002 - - - IthaID 312 - autosomal recessive Savvas Nikolaou
0000000046 ./. 16 g.10864_40864del30001 Kutlar et al. (1989); Kountouris et al. (1989); Harteveld et al. (1997) HBA1_000002 - - - IthaID 313 - autosomal recessive Savvas Nikolaou
0000000047 ./. 16 g.15164_37864del22701 Nicholls et al. (1985); Kountouris et al. (2016) HBA1_000003 - - - IthaID 314 - autosomal recessive Savvas Nikolaou
0000000056 ./. 16 g.26264_45564del19301 Pressley et al. (1980); Kountouris et al. (2016) HBA1_000005 - - - IthaID 309 - autosomal recessive Savvas Nikolaou
0000000044 ./. 16 g.34164_37967del3804 Embury et al. (1980); Kountouris et al. (2016) HBA1_000001 - - - IthaID 300 - autosomal recessive Savvas Nikolaou
0000000051 ./. 16 g.173001T>C Hall et al. (1993); Kountouris et al. (2016) HBA2_000004 rs41341344 - - IthaID 356 - autosomal dominant Savvas Nikolaou
0000000048 ./. 16 g.173009_173013delTGAGG Kountouris et al. (2016); Felber et al. (1982); Orkin et al. (1981) HBA2_000001 rs41474145 - - IthaID 359 - autosomal recessive Savvas Nikolaou
0000000057 ./. 16 g.173266C>G Van Ros et al. (1968); North et al. (1975); Rhoda et al. (1983); Moradkhani et al. (2009); Silva et al. (2012); Kountouris et al. (2016) HBA2_000008 rs281860607 - - IthaID 626 α2 autosomal dominant Savvas Nikolaou
0000000052 ./. 16 g.173312G>A Wajcman et al. (1972);Aubert et al. (1977);Nozari et al. (1977);Kountouris et al. (2016) HBA2_000005 rs281864878 - - IthaID 673 - autosomal dominant Savvas Nikolaou
0000000054 ./. 16 g.173598T>A Efremov et al. (1990); Clegg et al. (1974); Kountouris et al. (2016) HBA2_000006 rs41464951 - - IthaID 419 - autosomal dominant Savvas Nikolaou
0000000050 ./. 16 g.173692A>G Baysal et al. (1995);Yüregir et al. (1992); Kyriacou et al. (2000); Kountouris et al. (2016) HBA2_000003 rs63750067 - - IthaID 425 - autosomal recessive Savvas Nikolaou
0000000049 ./. 16 g.173694A>C Higgs et al. (1983); Whitelaw and Proudfoot (1986);Thein et al. (1988); Kountouris et al. (2016) HBA2_000002 rs63751269 - - IthaID 424 - autosomal recessive Savvas Nikolaou
0000000055 ./. 16 g.176780G>C Wajman et al. (1989); Kountouris et al.(2016) HBA2_000007 rs34324664 - - IthaID 481 α2 autosomal dominant Savvas Nikolaou
0000000053 ./. 16 g.177309delC Oron-Karni et al. (2000); Kountouris et al. (2016) HBA1_000004 rs281864535 - - IthaID 398 - autosomal recessive Savvas Nikolaou
0000000002 ?/. 16 g.3293880A>G Touitou (2001) MEFV_000001 rs11466045 0.01077 - - - - Savvas Nikolaou
0000000080 ./. 17 NC_000017.11:g.43051085delC - BRCA1_000002 - - - - - - Georgia Charalambous
0000000079 ./. 17 NC_000017.11:g.43093691T>A - BRCA1_000001 - - - - - - Georgia Charalambous
0000000019 ./. 17 g.15163980G>A Nicolaou et al. (2010) PMP22_000001 rs104894625 9.5% - - - - Savvas Nikolaou
0000000007 ./. 18 g.31592974G>A Olsson et al. (2010) TTR_000001 rs28933979 - - - - - Savvas Nikolaou
0000000017 ./. 19 g.43508816A>C Drousiotou et al. (2011) ETHE1_000001 rs387906987 - - - - - Savvas Nikolaou
0000000006 ./. X - Demosthenous et al. (2012) COL4A5_000001 rs281874682 - - - - - Savvas Nikolaou
0000000087 ./. X NC_000023.11:g.154532257C>T - G6PD_000002 - - - - - - Georgia Charalambous
0000000088 ./. X NC_000023.11:g.154532990C>T - G6PD_000003 - - - - - - Georgia Charalambous
0000000010 +/? X g.153762634G>A Rajith and Priya Doss (2011) G6PD_000001 rs5030868 - - - - - Savvas Nikolaou
Legend