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: rs121908375
rs121908375
3 0.882 0.160 3 193637280 missense variant G/A snv 0.710 1.000 21 2000 2013
dbSNP: rs80356529
rs80356529
9 0.827 0.240 3 193643996 missense variant G/A;C snv 0.710 1.000 21 2000 2013
dbSNP: rs398124303
rs398124303
2 0.925 0.160 3 193638064 missense variant A/C;G snv 4.0E-06 0.710 1.000 2 2013 2015
dbSNP: rs770966290
rs770966290
2 0.925 0.160 3 193638010 missense variant A/G snv 1.6E-05 4.2E-05 0.710 1.000 1 2015 2015
dbSNP: rs1064797302
rs1064797302
1 1.000 0.160 3 193659560 missense variant A/G snv 0.700 1.000 20 2000 2013
dbSNP: rs1292852465
rs1292852465
1 1.000 0.160 3 193658904 missense variant T/G snv 4.0E-06 0.700 1.000 20 2000 2013
dbSNP: rs145710079
rs145710079
1 1.000 0.160 3 193667256 missense variant C/T snv 1.6E-05 2.1E-05 0.700 1.000 20 2000 2013
dbSNP: rs151103940
rs151103940
3 0.882 0.160 3 193614929 missense variant A/G snv 4.0E-04 1.1E-03 0.700 1.000 20 2000 2013
dbSNP: rs28939082
rs28939082
2 0.925 0.160 3 193637980 missense variant G/A snv 0.700 1.000 20 2000 2013
dbSNP: rs387906900
rs387906900
2 0.925 0.160 3 193643978 missense variant G/T snv 0.700 1.000 20 2000 2013
dbSNP: rs530896300
rs530896300
1 1.000 0.160 3 193614995 missense variant A/G;T snv 2.0E-05 0.700 1.000 20 2000 2013
dbSNP: rs778998909
rs778998909
1 1.000 0.160 3 193648132 missense variant C/T snv 1.2E-05 0.700 1.000 20 2000 2013
dbSNP: rs780922750
rs780922750
1 1.000 0.160 3 193643038 missense variant G/A;T snv 1.6E-05 0.700 1.000 20 2000 2013
dbSNP: rs879255592
rs879255592
2 0.925 0.160 3 193647127 missense variant G/A snv 0.700 1.000 20 2000 2013
dbSNP: rs80356530
rs80356530
4 0.882 0.320 3 193667168 splice region variant TTAG/- delins 0.700 1.000 1 2001 2001
dbSNP: rs863225274
rs863225274
1 1.000 0.160 3 193635467 stop gained T/A snv 0.700 1.000 1 2013 2013
dbSNP: rs863225275
rs863225275
1 1.000 0.160 3 193642975 frameshift variant -/TT delins 0.700 1.000 1 2013 2013
dbSNP: rs863225276
rs863225276
1 1.000 0.160 3 193643434 missense variant G/A snv 0.700 1.000 1 2013 2013
dbSNP: rs863225277
rs863225277
1 1.000 0.160 3 193643625 missense variant A/G snv 0.700 1.000 1 2013 2013
dbSNP: rs140606054
rs140606054
1 1.000 0.160 3 193648076 missense variant G/A snv 4.0E-05 6.3E-05 0.700 0
dbSNP: rs143319805
rs143319805
12 0.807 0.320 3 193643378 missense variant A/G snv 6.2E-04 5.7E-04 0.700 0
dbSNP: rs147077380
rs147077380
1 1.000 0.160 3 193648133 missense variant G/A;T snv 3.6E-05; 4.0E-06 0.700 0
dbSNP: rs190223702
rs190223702
2 0.925 0.160 3 193642978 missense variant G/A snv 2.8E-05 1.4E-05 0.700 0
dbSNP: rs190235251
rs190235251
1 1.000 0.160 3 193659547 missense variant C/G;T snv 8.1E-06; 1.8E-04 0.700 0
dbSNP: rs201214736
rs201214736
1 1.000 0.160 3 193614974 missense variant C/G;T snv 4.0E-06; 1.4E-04 0.700 0