rs372027952

Orientation

plus

Stabilized

plus

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

Make rs372027952(A;A)

Make rs372027952(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

95447367

Gene

PTCH1

is a	snp
is	mentioned by
dbSNP	rs372027952
dbSNP (classic)	rs372027952
ClinGen	rs372027952
ebi	rs372027952
HLI	rs372027952
Exac	rs372027952
Gnomad	rs372027952
Varsome	rs372027952
LitVar	rs372027952
Map	rs372027952
PheGenI	rs372027952
Biobank	rs372027952
1000 genomes	rs372027952
hgdp	rs372027952
ensembl	rs372027952
geneview	rs372027952
scholar	rs372027952
google	rs372027952
pharmgkb	rs372027952
gwascentral	rs372027952
openSNP	rs372027952
23andMe	rs372027952
SNPshot	rs372027952
SNPdbe	rs372027952
MSV3d	rs372027952
GWAS Ctlg	rs372027952

Max Magnitude

0

ClinVar
Risk	rs372027952(A;A)
Alt	rs372027952(A;A)
Reference	Rs372027952(G;G)
Significance	Probable-Pathogenic
Disease	Gorlin syndrome Rieger anomaly
Variation	info
Gene	PTCH1
CLNDBN	Gorlin syndrome Rieger anomaly
Reversed	0
HGVS	NC_000009.11:g.98209649G>A
CLNSRC
CLNACC	RCV000119190.3, RCV000207358.1,