Source: CURATED

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: rs750903875
rs750903875
7 152660773 stop gained G/A snv 1.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 2 2012 2016
dbSNP: rs151110146
rs151110146
7 152649295 stop gained G/A snv 2.4E-05 2.8E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 1 2017 2017
dbSNP: rs3218477
rs3218477
7 152659974 intron variant C/T snv 5.5E-02
Platelet mean volume determination (procedure)
0.700 1.000 1 2016 2016
dbSNP: rs730882048
rs730882048
1.000 0.120 7 152660726 frameshift variant A/- delins 7.7E-05
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.700 0