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: rs766313615
rs766313615
PTCH1 ; LOC100507346
1.000 0.160 9 95467368 stop gained G/A;C;T snv 8.0E-06
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
dbSNP: rs766313615
rs766313615
PTCH1 ; LOC100507346
1.000 0.160 9 95467368 stop gained G/A;C;T snv 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0