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: rs121913034
rs121913034
1.000 11 64809707 stop gained T/A;G snv
CUI: C4017331
Disease: ANGIOFIBROMA, SOMATIC
ANGIOFIBROMA, SOMATIC
0.700 0
dbSNP: rs267607234
rs267607234
1.000 11 64805745 missense variant CC/TT mnv
CUI: C4017331
Disease: ANGIOFIBROMA, SOMATIC
ANGIOFIBROMA, SOMATIC
0.700 0