rs730882176

Orientation

minus

Stabilized

minus

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

Make rs730882176(C;G)

Make rs730882176(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

210919967

Gene

KCNH1

is a	snp
is	mentioned by
dbSNP	rs730882176
dbSNP (classic)	rs730882176
ClinGen	rs730882176
ebi	rs730882176
HLI	rs730882176
Exac	rs730882176
Gnomad	rs730882176
Varsome	rs730882176
LitVar	rs730882176
Map	rs730882176
PheGenI	rs730882176
Biobank	rs730882176
1000 genomes	rs730882176
hgdp	rs730882176
ensembl	rs730882176
geneview	rs730882176
scholar	rs730882176
google	rs730882176
pharmgkb	rs730882176
gwascentral	rs730882176
openSNP	rs730882176
23andMe	rs730882176
SNPshot	rs730882176
SNPdbe	rs730882176
MSV3d	rs730882176
GWAS Ctlg	rs730882176

Max Magnitude

0

ClinVar
Risk	rs730882176(G;G)
Alt	rs730882176(G;G)
Reference	Rs730882176(C;C)
Significance	Pathogenic
Disease	Zimmermann-Laband syndrome 1
Variation	info
Gene	KCNH1
CLNDBN	Zimmermann-Laband syndrome 1
Reversed	1
HGVS	NC_000001.10:g.211093309G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000185592.5,