rs104894050

Orientation

minus

Stabilized

minus

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

Make rs104894050(A;T)

Make rs104894050(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

155811860

Gene

SHH

is a	snp
is	mentioned by
dbSNP	rs104894050
dbSNP (classic)	rs104894050
ClinGen	rs104894050
ebi	rs104894050
HLI	rs104894050
Exac	rs104894050
Gnomad	rs104894050
Varsome	rs104894050
LitVar	rs104894050
Map	rs104894050
PheGenI	rs104894050
Biobank	rs104894050
1000 genomes	rs104894050
hgdp	rs104894050
ensembl	rs104894050
geneview	rs104894050
scholar	rs104894050
google	rs104894050
pharmgkb	rs104894050
gwascentral	rs104894050
openSNP	rs104894050
23andMe	rs104894050
SNPshot	rs104894050
SNPdbe	rs104894050
MSV3d	rs104894050
GWAS Ctlg	rs104894050

Max Magnitude

0

OMIM	600725
Desc
Variant	0015
Related	also

ClinVar
Risk	rs104894050(T;T)
Alt	rs104894050(T;T)
Reference	Rs104894050(A;A)
Significance	Pathogenic
Disease	Holoprosencephaly 3
Variation	info
Gene	SHH
CLNDBN	Holoprosencephaly 3
Reversed	1
HGVS	NC_000007.13:g.155604554T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009441.2,