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: rs1057519815
rs1057519815
1 1.000 0.040 3 12599696 missense variant C/G snv 0.700 1.000 1 2013 2013
dbSNP: rs727505017
rs727505017
3 0.882 0.200 3 12604201 missense variant A/G;T snv 0.700 1.000 1 2013 2013