rs104894044

Orientation

minus

Stabilized

minus

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

Make rs104894044(C;T)

Make rs104894044(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

155811825

Gene

SHH

is a	snp
is	mentioned by
dbSNP	rs104894044
dbSNP (classic)	rs104894044
ClinGen	rs104894044
ebi	rs104894044
HLI	rs104894044
Exac	rs104894044
Gnomad	rs104894044
Varsome	rs104894044
LitVar	rs104894044
Map	rs104894044
PheGenI	rs104894044
Biobank	rs104894044
1000 genomes	rs104894044
hgdp	rs104894044
ensembl	rs104894044
geneview	rs104894044
scholar	rs104894044
google	rs104894044
pharmgkb	rs104894044
gwascentral	rs104894044
openSNP	rs104894044
23andMe	rs104894044
23andMe all	rs104894044
SNPshot	rs104894044
SNPdbe	rs104894044
MSV3d	rs104894044
GWAS Ctlg	rs104894044

Max Magnitude

0

OMIM	600725
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894044(T;T)
Alt	rs104894044(T;T)
Reference	Rs104894044(C;C)
Significance	Pathogenic
Disease	Holoprosencephaly 3
Variation	info
Gene	SHH
CLNDBN	Holoprosencephaly 3
Reversed	1
HGVS	NC_000007.13:g.155604519G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009428.2,