rs104894051

Orientation

minus

Stabilized

minus

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

Make rs104894051(G;T)

Make rs104894051(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

155803523

Gene

SHH

is a	snp
is	mentioned by
dbSNP	rs104894051
dbSNP (classic)	rs104894051
ClinGen	rs104894051
ebi	rs104894051
HLI	rs104894051
Exac	rs104894051
Gnomad	rs104894051
Varsome	rs104894051
LitVar	rs104894051
Map	rs104894051
PheGenI	rs104894051
Biobank	rs104894051
1000 genomes	rs104894051
hgdp	rs104894051
ensembl	rs104894051
geneview	rs104894051
scholar	rs104894051
google	rs104894051
pharmgkb	rs104894051
gwascentral	rs104894051
openSNP	rs104894051
23andMe	rs104894051
SNPshot	rs104894051
SNPdbe	rs104894051
MSV3d	rs104894051
GWAS Ctlg	rs104894051

Max Magnitude

0

OMIM	600725
Desc
Variant	0017
Related	also

ClinVar
Risk	rs104894051(T;T)
Alt	rs104894051(T;T)
Reference	Rs104894051(G;G)
Significance	Pathogenic
Disease	Holoprosencephaly 3
Variation	info
Gene	SHH
CLNDBN	Holoprosencephaly 3
Reversed	1
HGVS	NC_000007.13:g.155596217C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009443.2,