rs113994160

Orientation

minus

Stabilized

minus

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

Make rs113994160(C;T)

Make rs113994160(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

8123096

Gene

HES7

is a	snp
is	mentioned by
dbSNP	rs113994160
dbSNP (classic)	rs113994160
ClinGen	rs113994160
ebi	rs113994160
HLI	rs113994160
Exac	rs113994160
Gnomad	rs113994160
Varsome	rs113994160
LitVar	rs113994160
Map	rs113994160
PheGenI	rs113994160
Biobank	rs113994160
1000 genomes	rs113994160
hgdp	rs113994160
ensembl	rs113994160
geneview	rs113994160
scholar	rs113994160
google	rs113994160
pharmgkb	rs113994160
gwascentral	rs113994160
openSNP	rs113994160
23andMe	rs113994160
SNPshot	rs113994160
SNPdbe	rs113994160
MSV3d	rs113994160
GWAS Ctlg	rs113994160

Max Magnitude

0

ClinVar
Risk	rs113994160(T;T)
Alt	rs113994160(T;T)
Reference	Rs113994160(C;C)
Significance	Pathogenic
Disease	Spondylocostal dysostosis 5 Spondylocostal dysostosis 4
Variation	info
Gene	HES7
CLNDBN	Spondylocostal dysostosis 5 Spondylocostal dysostosis 4, autosomal recessive
Reversed	1
HGVS	NC_000017.10:g.8026414G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023674.3, RCV000034271.2,