rs104894048

Orientation

minus

Stabilized

minus

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

Make rs104894048(C;G)

Make rs104894048(G;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

155803019

Gene

SHH

is a	snp
is	mentioned by
dbSNP	rs104894048
dbSNP (classic)	rs104894048
ClinGen	rs104894048
ebi	rs104894048
HLI	rs104894048
Exac	rs104894048
Gnomad	rs104894048
Varsome	rs104894048
LitVar	rs104894048
Map	rs104894048
PheGenI	rs104894048
Biobank	rs104894048
1000 genomes	rs104894048
hgdp	rs104894048
ensembl	rs104894048
geneview	rs104894048
scholar	rs104894048
google	rs104894048
pharmgkb	rs104894048
gwascentral	rs104894048
openSNP	rs104894048
23andMe	rs104894048
SNPshot	rs104894048
SNPdbe	rs104894048
MSV3d	rs104894048
GWAS Ctlg	rs104894048

Max Magnitude

0

OMIM	600725
Desc
Variant	0012
Related	also

ClinVar
Risk	rs104894048(A;A) rs104894048(G;G)
Alt	rs104894048(A;A) rs104894048(G;G)
Reference	Rs104894048(C;C)
Significance	Pathogenic
Disease	Holoprosencephaly 3
Variation	info
Gene	SHH
CLNDBN	Holoprosencephaly 3
Reversed	1
HGVS	NC_000007.13:g.155595713G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009438.2,