rs267607047

Orientation

minus

Stabilized

minus

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

Make rs267607047(A;A)

Make rs267607047(A;C)

Reference

GRCh38 38.1/141

Chromosome

7

Position

155806513

Gene

SHH

is a	snp
is	mentioned by
dbSNP	rs267607047
dbSNP (classic)	rs267607047
ClinGen	rs267607047
ebi	rs267607047
HLI	rs267607047
Exac	rs267607047
Gnomad	rs267607047
Varsome	rs267607047
LitVar	rs267607047
Map	rs267607047
PheGenI	rs267607047
Biobank	rs267607047
1000 genomes	rs267607047
hgdp	rs267607047
ensembl	rs267607047
geneview	rs267607047
scholar	rs267607047
google	rs267607047
pharmgkb	rs267607047
gwascentral	rs267607047
openSNP	rs267607047
23andMe	rs267607047
SNPshot	rs267607047
SNPdbe	rs267607047
MSV3d	rs267607047
GWAS Ctlg	rs267607047

Max Magnitude

0

ClinVar
Risk	rs267607047(A;A)
Alt	rs267607047(A;A)
Reference	Rs267607047(C;C)
Significance	Pathogenic
Disease	Holoprosencephaly 3
Variation	info
Gene	SHH
CLNDBN	Holoprosencephaly 3
Reversed	1
HGVS	NC_000007.13:g.155599207G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009447.4,