rs587778792

Orientation

minus

Stabilized

minus

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

Make rs587778792(C;C)

Make rs587778792(C;G)

Reference

GRCh38.p2 38.2/144

Chromosome

7

Position

155811823

Gene

SHH

is a	snp
is	mentioned by
dbSNP	rs587778792
dbSNP (classic)	rs587778792
ClinGen	rs587778792
ebi	rs587778792
HLI	rs587778792
Exac	rs587778792
Gnomad	rs587778792
Varsome	rs587778792
LitVar	rs587778792
Map	rs587778792
PheGenI	rs587778792
Biobank	rs587778792
1000 genomes	rs587778792
hgdp	rs587778792
ensembl	rs587778792
geneview	rs587778792
scholar	rs587778792
google	rs587778792
pharmgkb	rs587778792
gwascentral	rs587778792
openSNP	rs587778792
23andMe	rs587778792
SNPshot	rs587778792
SNPdbe	rs587778792
MSV3d	rs587778792
GWAS Ctlg	rs587778792

Max Magnitude

0

ClinVar
Risk	rs587778792(C;C)
Alt	rs587778792(C;C)
Reference	Rs587778792(G;G)
Significance	Pathogenic
Disease	Holoprosencephaly 3
Variation	info
Gene	SHH
CLNDBN	Holoprosencephaly 3
Reversed	1
HGVS	NC_000007.13:g.155604517C>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000056105.1,