rs387906978

Orientation

minus

Stabilized

minus

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

Make rs387906978(G;T)

Make rs387906978(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

8121693

Gene

HES7

is a	snp
is	mentioned by
dbSNP	rs387906978
dbSNP (classic)	rs387906978
ClinGen	rs387906978
ebi	rs387906978
HLI	rs387906978
Exac	rs387906978
Gnomad	rs387906978
Varsome	rs387906978
LitVar	rs387906978
Map	rs387906978
PheGenI	rs387906978
Biobank	rs387906978
1000 genomes	rs387906978
hgdp	rs387906978
ensembl	rs387906978
geneview	rs387906978
scholar	rs387906978
google	rs387906978
pharmgkb	rs387906978
gwascentral	rs387906978
openSNP	rs387906978
23andMe	rs387906978
SNPshot	rs387906978
SNPdbe	rs387906978
MSV3d	rs387906978
GWAS Ctlg	rs387906978

Max Magnitude

0

ClinVar
Risk	rs387906978(T;T)
Alt	rs387906978(T;T)
Reference	Rs387906978(G;G)
Significance	Pathogenic
Disease	Spondylocostal dysostosis 5
Variation	info
Gene	HES7
CLNDBN	Spondylocostal dysostosis 5
Reversed	1
HGVS	NC_000017.10:g.8025011C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023675.4,