Source: CLINVAR ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs113488022
rs113488022
22 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.800 0.979 30 2002 2020
dbSNP: rs121913227
rs121913227
1 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.800 1.000 22 2002 2020
dbSNP: rs121913377
rs121913377
2 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.800 0.981 19 2002 2020
dbSNP: rs121913351
rs121913351
9 0.776 0.240 7 140781611 missense variant C/A;G;T snv 4.0E-06 0.800 1.000 2 2013 2014
dbSNP: rs121913366
rs121913366
6 0.763 0.400 7 140753345 missense variant A/C;T snv 0.720 1.000 13 1989 2017
dbSNP: rs121913364
rs121913364
14 0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 0.720 1.000 7 2002 2016
dbSNP: rs121913338
rs121913338
12 0.677 0.400 7 140753354 missense variant T/A;C;G snv 0.720 1.000 5 1986 2019
dbSNP: rs121913378
rs121913378
6 0.776 0.280 7 140753337 missense variant C/A;G;T snv 0.710 1.000 14 2002 2014
dbSNP: rs121913368
rs121913368
1 0.925 0.040 7 140753345 missense variant AG/GA mnv 0.710 1.000 12 2002 2018
dbSNP: rs121913355
rs121913355
32 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.710 1.000 2 2009 2014
dbSNP: rs121913375
rs121913375
5 0.851 0.240 7 140753339 missense variant G/A;C snv 0.710 1.000 1 2014 2018
dbSNP: rs121913369
rs121913369
8 0.790 0.280 7 140753346 missense variant G/A;C snv 4.0E-06 0.700 1.000 12 2002 2014
dbSNP: rs1057519718
rs1057519718
1 0.925 0.160 7 140753355 missense variant CA/TC mnv 0.700 1.000 3 2002 2010
dbSNP: rs121913337
rs121913337
2 0.925 0.200 7 140753353 missense variant A/C;T snv 0.700 1.000 3 2002 2014
dbSNP: rs1057519720
rs1057519720
2 0.851 0.080 7 140781602 missense variant CC/AA;GA mnv 0.700 1.000 2 2005 2014
dbSNP: rs121913349
rs121913349
2 0.925 0.200 7 140781618 missense variant C/G;T snv 0.700 1.000 2 2014 2014
dbSNP: rs121913363
rs121913363
1 1.000 0.040 7 140753361 missense variant T/C snv 0.700 1.000 2 2014 2015
dbSNP: rs121913371
rs121913371
1 1.000 0.040 7 140781678 missense variant G/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 2 2007 2014
dbSNP: rs397516896
rs397516896
11 0.763 0.360 7 140753355 missense variant C/G;T snv 0.700 1.000 2 2002 2003
dbSNP: rs121913225
rs121913225
1 1.000 0.040 7 140753351 missense variant A/G snv 0.700 1.000 1 2014 2014
dbSNP: rs121913226
rs121913226
1 1.000 0.040 7 140753332 inframe deletion TTT/- del 0.700 1.000 1 2014 2014
dbSNP: rs121913341
rs121913341
3 0.851 0.280 7 140753350 missense variant A/C;T snv 0.700 1.000 1 2014 2014
dbSNP: rs121913357
rs121913357
11 0.742 0.320 7 140781603 stop gained C/A;G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs121913361
rs121913361
6 0.807 0.280 7 140753349 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs121913365
rs121913365
8 0.776 0.320 7 140753332 missense variant T/A;G snv 0.700 1.000 1 2014 2014