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: rs764896402
rs764896402
1.000 0.200 14 67823627 splice region variant G/A snv 4.0E-06
Hereditary Breast and Ovarian Cancer Syndrome
0.700 1.000 1 2016 2016
dbSNP: rs764896402
rs764896402
1.000 0.200 14 67823627 splice region variant G/A snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 0