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: rs121918347
rs121918347
SMO
0.851 0.080 7 129210500 missense variant G/T snv
CUI: C3838465
Disease: BASAL CELL CARCINOMA, SOMATIC
BASAL CELL CARCINOMA, SOMATIC 		0.700 0
dbSNP: rs121918348
rs121918348
SMO
0.925 0.040 7 129210997 missense variant G/A snv 4.0E-05 2.8E-05
CUI: C3838465
Disease: BASAL CELL CARCINOMA, SOMATIC
BASAL CELL CARCINOMA, SOMATIC 		0.700 0
dbSNP: rs137853214
rs137853214
CCNH ; RASA1
0.925 0.040 5 87349304 missense variant G/T snv
CUI: C3838465
Disease: BASAL CELL CARCINOMA, SOMATIC
BASAL CELL CARCINOMA, SOMATIC 		0.700 0
dbSNP: rs137853215
rs137853215
CCNH ; RASA1
0.925 0.040 5 87349309 missense variant A/G snv
CUI: C3838465
Disease: BASAL CELL CARCINOMA, SOMATIC
BASAL CELL CARCINOMA, SOMATIC 		0.700 0
dbSNP: rs137853216
rs137853216
CCNH ; RASA1
0.925 0.040 5 87349312 missense variant A/G snv
CUI: C3838465
Disease: BASAL CELL CARCINOMA, SOMATIC
BASAL CELL CARCINOMA, SOMATIC 		0.700 0
dbSNP: rs587776628
rs587776628
PTCH2
1.000 1 44823064 splice region variant G/A snv
CUI: C3838465
Disease: BASAL CELL CARCINOMA, SOMATIC
BASAL CELL CARCINOMA, SOMATIC 		0.700 0
dbSNP: rs587776689
rs587776689
PTCH1
0.882 0.160 9 95453587 missense variant T/A;G snv
CUI: C3838465
Disease: BASAL CELL CARCINOMA, SOMATIC
BASAL CELL CARCINOMA, SOMATIC 		0.700 0