rs730882175

Orientation

minus

Stabilized

minus

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

Make rs730882175(A;A)

Make rs730882175(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

210804143

Gene

KCNH1

is a	snp
is	mentioned by
dbSNP	rs730882175
dbSNP (classic)	rs730882175
ClinGen	rs730882175
ebi	rs730882175
HLI	rs730882175
Exac	rs730882175
Gnomad	rs730882175
Varsome	rs730882175
LitVar	rs730882175
Map	rs730882175
PheGenI	rs730882175
Biobank	rs730882175
1000 genomes	rs730882175
hgdp	rs730882175
ensembl	rs730882175
geneview	rs730882175
scholar	rs730882175
google	rs730882175
pharmgkb	rs730882175
gwascentral	rs730882175
openSNP	rs730882175
23andMe	rs730882175
SNPshot	rs730882175
SNPdbe	rs730882175
MSV3d	rs730882175
GWAS Ctlg	rs730882175

Max Magnitude

0

ClinVar
Risk	rs730882175(A;A)
Alt	rs730882175(A;A)
Reference	Rs730882175(G;G)
Significance	Pathogenic
Disease	Zimmermann-Laband syndrome 1
Variation	info
Gene	KCNH1
CLNDBN	Zimmermann-Laband syndrome 1
Reversed	1
HGVS	NC_000001.10:g.210977485C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000190321.4,