rs104894040

Orientation

minus

Stabilized

minus

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

Make rs104894040(G;G)

Make rs104894040(G;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

155806509

Gene

SHH

is a	snp
is	mentioned by
dbSNP	rs104894040
dbSNP (classic)	rs104894040
ClinGen	rs104894040
ebi	rs104894040
HLI	rs104894040
Exac	rs104894040
Gnomad	rs104894040
Varsome	rs104894040
LitVar	rs104894040
Map	rs104894040
PheGenI	rs104894040
Biobank	rs104894040
1000 genomes	rs104894040
hgdp	rs104894040
ensembl	rs104894040
geneview	rs104894040
scholar	rs104894040
google	rs104894040
pharmgkb	rs104894040
gwascentral	rs104894040
openSNP	rs104894040
23andMe	rs104894040
SNPshot	rs104894040
SNPdbe	rs104894040
MSV3d	rs104894040
GWAS Ctlg	rs104894040

Max Magnitude

0

OMIM	600725
Desc
Variant	0005
Related	also

OMIM	600725
Desc
Variant	0004
Related	also

ClinVar
Risk	rs104894040(C;C) rs104894040(G;G)
Alt	rs104894040(C;C) rs104894040(G;G)
Reference	Rs104894040(T;T)
Significance	Pathogenic
Disease	Holoprosencephaly 3
Variation	info
Gene	SHH
CLNDBN	Holoprosencephaly 3
Reversed	1
HGVS	NC_000007.13:g.155599203A>C; NC_000007.13:g.155599203A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009430.2, RCV000009431.2,

[PMID 26590974] Relation between sonic hedgehog pathway gene polymorphisms and basal cell carcinoma development in the Polish population