Source: UNIPROT

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: rs878853856
rs878853856
PTCH1
1.000 0.160 9 95453533 missense variant A/G snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.800 1.000 8 1996 2015
dbSNP: rs199476093
rs199476093
PTCH1
1.000 0.120 9 95459764 missense variant A/C snv
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 7 		0.800 1.000 3 2002 2006
dbSNP: rs587776689
rs587776689
PTCH1
0.882 0.160 9 95453587 missense variant T/A;G snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 1.000 5 1996 2004
dbSNP: rs138911275
rs138911275
PTCH1
1.000 0.120 9 95458026 missense variant G/A snv 6.5E-04 6.4E-04
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 7 		0.700 1.000 3 2002 2006
dbSNP: rs199476091
rs199476091
PTCH1
1.000 0.120 9 95479038 missense variant C/T snv 4.2E-04 9.1E-05
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 7 		0.700 1.000 3 2002 2006
dbSNP: rs199476092
rs199476092
PTCH1 ; LOC100507346
1.000 0.120 9 95467197 missense variant T/C snv 9.9E-04 3.6E-04
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 7 		0.700 1.000 3 2002 2006
dbSNP: rs878853845
rs878853845
PTCH1
1.000 0.120 9 95478074 missense variant G/A;C snv
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 7 		0.700 1.000 3 2002 2006
dbSNP: rs587776689
rs587776689
PTCH1
0.882 0.160 9 95453587 missense variant T/A;G snv
CUI: C2751544
Disease: BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1 		0.700 1.000 2 1996 1998
dbSNP: rs115556836
rs115556836
PTCH1 ; LOC100507346
1.000 0.120 9 95468818 missense variant G/A snv 1.6E-03 6.6E-03
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 7 		0.700 0
dbSNP: rs201125580
rs201125580
PTCH1 ; LOC100507346
1.000 0.040 9 95467191 missense variant C/A;T snv 4.0E-06; 3.8E-04
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.700 0
dbSNP: rs779417284
rs779417284
PTCH1
1.000 0.040 9 95449149 missense variant C/T snv 2.4E-05
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.700 0