rs368417828

Orientation

plus

Stabilized

plus

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

Make rs368417828(A;A)

Make rs368417828(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

95456391

Gene

PTCH1

is a	snp
is	mentioned by
dbSNP	rs368417828
dbSNP (classic)	rs368417828
ClinGen	rs368417828
ebi	rs368417828
HLI	rs368417828
Exac	rs368417828
Gnomad	rs368417828
Varsome	rs368417828
LitVar	rs368417828
Map	rs368417828
PheGenI	rs368417828
Biobank	rs368417828
1000 genomes	rs368417828
hgdp	rs368417828
ensembl	rs368417828
geneview	rs368417828
scholar	rs368417828
google	rs368417828
pharmgkb	rs368417828
gwascentral	rs368417828
openSNP	rs368417828
23andMe	rs368417828
SNPshot	rs368417828
SNPdbe	rs368417828
MSV3d	rs368417828
GWAS Ctlg	rs368417828

Max Magnitude

0

ClinVar
Risk	rs368417828(A;A)
Alt	rs368417828(A;A)
Reference	Rs368417828(G;G)
Significance	Probable-Pathogenic
Disease	Anophthalmia - microphthalmia Gorlin syndrome
Variation	info
Gene	PTCH1
CLNDBN	Anophthalmia - microphthalmia Gorlin syndrome
Reversed	0
HGVS	NC_000009.11:g.98218673G>A
CLNSRC
CLNACC	RCV000207365.1, RCV000456174.1,