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: rs104894294
rs104894294
2 1.000 11 47447853 missense variant G/A snv 2.0E-05 2.1E-05 0.700 0
dbSNP: rs104894299
rs104894299
5 0.827 0.120 11 47448079 missense variant G/T snv 1.6E-03 1.5E-03 0.700 0