rs104894043

Orientation

minus

Stabilized

minus

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

Make rs104894043(A;A)

Make rs104894043(A;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

155803613

Gene

SHH

is a	snp
is	mentioned by
dbSNP	rs104894043
dbSNP (classic)	rs104894043
ClinGen	rs104894043
ebi	rs104894043
HLI	rs104894043
Exac	rs104894043
Gnomad	rs104894043
Varsome	rs104894043
LitVar	rs104894043
Map	rs104894043
PheGenI	rs104894043
Biobank	rs104894043
1000 genomes	rs104894043
hgdp	rs104894043
ensembl	rs104894043
geneview	rs104894043
scholar	rs104894043
google	rs104894043
pharmgkb	rs104894043
gwascentral	rs104894043
openSNP	rs104894043
23andMe	rs104894043
SNPshot	rs104894043
SNPdbe	rs104894043
MSV3d	rs104894043
GWAS Ctlg	rs104894043

Max Magnitude

0

OMIM	600725
Desc
Variant	0007
Related	also

ClinVar
Risk	rs104894043(A;A)
Alt	rs104894043(A;A)
Reference	Rs104894043(G;G)
Significance	Pathogenic
Disease	Holoprosencephaly 3
Variation	info
Gene	SHH
CLNDBN	Holoprosencephaly 3
Reversed	1
HGVS	NC_000007.13:g.155596307C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009433.2,