rs794727242

Orientation

minus

Stabilized

minus

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

Make rs794727242(G;T)

Make rs794727242(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

95506458

Gene

PTCH1

is a	snp
is	mentioned by
dbSNP	rs794727242
dbSNP (classic)	rs794727242
ClinGen	rs794727242
ebi	rs794727242
HLI	rs794727242
Exac	rs794727242
Gnomad	rs794727242
Varsome	rs794727242
LitVar	rs794727242
Map	rs794727242
PheGenI	rs794727242
Biobank	rs794727242
1000 genomes	rs794727242
hgdp	rs794727242
ensembl	rs794727242
geneview	rs794727242
scholar	rs794727242
google	rs794727242
pharmgkb	rs794727242
gwascentral	rs794727242
openSNP	rs794727242
23andMe	rs794727242
SNPshot	rs794727242
SNPdbe	rs794727242
MSV3d	rs794727242
GWAS Ctlg	rs794727242

Max Magnitude

0

ClinVar
Risk	rs794727242(T;T)
Alt	rs794727242(T;T)
Reference	Rs794727242(G;G)
Significance	Pathogenic
Disease	Gorlin syndrome
Variation	info
Gene	PTCH1
CLNDBN	Gorlin syndrome
Reversed	1
HGVS	NC_000009.11:g.98268740C>A
CLNSRC
CLNACC	RCV000175570.1,