Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137853036
rs137853036
0.923 0.036 2 46380281 missense variant G/A,T snp
CUI: C0152264
Disease: Familial erythrocytosis
Familial erythrocytosis
Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014