Source: ALL
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: rs550921485
rs550921485
HPCA
3 1.000 0.080 1 32893848 missense variant G/A snv 4.9E-04 7.0E-05 0.800 1.000 2 2015 2017
dbSNP: rs775863165
rs775863165
HPCA
3 1.000 0.080 1 32889110 missense variant C/A;T snv 4.0E-06 0.800 1.000 2 2015 2017
dbSNP: rs786205675
rs786205675
HPCA
3 1.000 0.080 1 32889123 missense variant C/A snv 0.800 0