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: rs137852813
rs137852813
11 0.807 0.200 2 39051202 missense variant A/C;G snv 0.700 1.000 5 2007 2011
dbSNP: rs267607079
rs267607079
13 0.776 0.240 2 39022772 missense variant C/A;G snv 0.700 0
dbSNP: rs397517148
rs397517148
26 0.776 0.200 2 39023128 missense variant C/T snv 0.700 0
dbSNP: rs397517154
rs397517154
15 0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06 0.700 0