Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1131691029
rs1131691029
0.827 0.160 17 7673794 missense variant C/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 3 2007 2010
dbSNP: rs1131691029
rs1131691029
0.827 0.160 17 7673794 missense variant C/G snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.700 0