rs147067171

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs147067171(C;C)

Make rs147067171(C;T)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

95447309

Gene

PTCH1

is a	snp
is	mentioned by
dbSNP	rs147067171
dbSNP (classic)	rs147067171
ClinGen	rs147067171
ebi	rs147067171
HLI	rs147067171
Exac	rs147067171
Gnomad	rs147067171
Varsome	rs147067171
LitVar	rs147067171
Map	rs147067171
PheGenI	rs147067171
Biobank	rs147067171
1000 genomes	rs147067171
hgdp	rs147067171
ensembl	rs147067171
geneview	rs147067171
scholar	rs147067171
google	rs147067171
pharmgkb	rs147067171
gwascentral	rs147067171
openSNP	rs147067171
23andMe	rs147067171
SNPshot	rs147067171
SNPdbe	rs147067171
MSV3d	rs147067171
GWAS Ctlg	rs147067171

Max Magnitude

0

ClinVar
Risk	rs147067171(C;C)
Alt	rs147067171(C;C)
Reference	Rs147067171(T;T)
Significance	Probable-Pathogenic
Disease	Gorlin syndrome Peters anomaly Rieger anomaly Hereditary cancer-predisposing syndrome
Variation	info
Gene	PTCH1
CLNDBN	Gorlin syndrome Peters anomaly Rieger anomaly Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000009.11:g.98209591T>C
CLNSRC
CLNACC	RCV000119172.6, RCV000207364.1, RCV000492441.1,