rs863224442

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	5.3	Basal cell nevus syndrome
(G;G)	0	common in clinvar

Make rs863224442(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

95453477

Gene

PTCH1

is a	snp
is	mentioned by
dbSNP	rs863224442
dbSNP (classic)	rs863224442
ClinGen	rs863224442
ebi	rs863224442
HLI	rs863224442
Exac	rs863224442
Gnomad	rs863224442
Varsome	rs863224442
LitVar	rs863224442
Map	rs863224442
PheGenI	rs863224442
Biobank	rs863224442
1000 genomes	rs863224442
hgdp	rs863224442
ensembl	rs863224442
geneview	rs863224442
scholar	rs863224442
google	rs863224442
pharmgkb	rs863224442
gwascentral	rs863224442
openSNP	rs863224442
23andMe	rs863224442
SNPshot	rs863224442
SNPdbe	rs863224442
MSV3d	rs863224442
GWAS Ctlg	rs863224442

Max Magnitude

5.3

ClinVar
Risk	rs863224442(A;A)
Alt	rs863224442(A;A)
Reference	Rs863224442(G;G)
Significance	Probable-Pathogenic
Disease	Gorlin syndrome
Variation	info
Gene	PTCH1
CLNDBN	Gorlin syndrome
Reversed	1
HGVS	NC_000009.11:g.98215759C>T
CLNSRC
CLNACC	RCV000195968.1,