Source: CURATED ×
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: rs1554040964
rs1554040964
1 1.000 0.080 5 1279417 missense variant C/G snv 0.700 1.000 2 2013 2017
dbSNP: rs1554043088
rs1554043088
1 1.000 0.080 5 1294548 frameshift variant -/C delins 0.700 1.000 1 2017 2017
dbSNP: rs1554043124
rs1554043124
1 1.000 0.080 5 1294790 missense variant G/A snv 0.700 1.000 1 2017 2017