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: rs121918495
rs121918495
2 0.925 0.080 10 121517382 missense variant T/G snv 0.700 1.000 16 1994 2007
dbSNP: rs121918500
rs121918500
1 1.000 0.080 10 121520044 missense variant T/C snv 0.800 1.000 16 1994 2007
dbSNP: rs1554927408
rs1554927408
12 0.742 0.480 10 121515254 missense variant C/T snv 0.800 1.000 16 1994 2007
dbSNP: rs1554930684
rs1554930684
1 1.000 0.080 10 121520016 missense variant T/C snv 0.700 1.000 16 1994 2007
dbSNP: rs387906676
rs387906676
1 1.000 0.080 10 121517394 missense variant C/G;T snv 0.800 1.000 16 1994 2007
dbSNP: rs776587763
rs776587763
7 0.790 0.120 10 121520085 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.800 1.000 16 1994 2007
dbSNP: rs77543610
rs77543610
28 0.667 0.560 10 121520160 missense variant G/C snv 0.710 1.000 10 1995 2015
dbSNP: rs780497781
rs780497781
2 0.925 0.080 10 121479954 missense variant C/T snv 2.4E-05 2.8E-05 0.010 1.000 1 1995 1995
dbSNP: rs79184941
rs79184941
41 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.720 1.000 2 1997 2014
dbSNP: rs374608214
rs374608214
13 0.742 0.160 10 121520010 missense variant G/C snv 4.0E-06 7.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs1057519038
rs1057519038
3 0.882 0.120 10 121520076 missense variant T/C snv 0.710 1.000 1 2002 2002
dbSNP: rs121918507
rs121918507
3 0.882 0.280 10 121498591 missense variant T/C snv 0.710 1.000 1 2005 2005
dbSNP: rs1490997619
rs1490997619
2 0.925 0.080 10 121488065 missense variant T/C snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs751047267
rs751047267
2 0.925 0.080 10 121496555 missense variant T/C snv 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1265366960
rs1265366960
2 0.925 0.080 10 121503857 missense variant G/C snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1354205157
rs1354205157
2 0.925 0.080 10 121565633 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs974173968
rs974173968
3 0.882 0.080 10 121551382 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs777169135
rs777169135
4 0.851 0.080 10 121488064 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1057519043
rs1057519043
4 0.851 0.120 10 121517391 missense variant C/A;G;T snv 0.710 1.000 1 2018 2018
dbSNP: rs121913474
rs121913474
9 0.790 0.200 10 121515260 missense variant A/G snv 0.010 1.000 1 2019 2019