rs121434397

Orientation

minus

Stabilized

minus

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

Make rs121434397(A;A)

Make rs121434397(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

44827617

Gene

PTCH2

is a	snp
is	mentioned by
dbSNP	rs121434397
dbSNP (classic)	rs121434397
ClinGen	rs121434397
ebi	rs121434397
HLI	rs121434397
Exac	rs121434397
Gnomad	rs121434397
Varsome	rs121434397
LitVar	rs121434397
Map	rs121434397
PheGenI	rs121434397
Biobank	rs121434397
1000 genomes	rs121434397
hgdp	rs121434397
ensembl	rs121434397
geneview	rs121434397
scholar	rs121434397
google	rs121434397
pharmgkb	rs121434397
gwascentral	rs121434397
openSNP	rs121434397
23andMe	rs121434397
SNPshot	rs121434397
SNPdbe	rs121434397
MSV3d	rs121434397
GWAS Ctlg	rs121434397

Max Magnitude

0

OMIM	603673
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121434397(A;A)
Alt	rs121434397(A;A)
Reference	Rs121434397(G;G)
Significance	Pathogenic
Disease	Gorlin syndrome
Variation	info
Gene	PTCH2
CLNDBN	Gorlin syndrome
Reversed	1
HGVS	NC_000001.10:g.45293289C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006522.2,