rs730882172

Orientation

minus

Stabilized

minus

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

Make rs730882172(A;A)

Make rs730882172(A;C)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

210920047

Gene

KCNH1

is a	snp
is	mentioned by
dbSNP	rs730882172
dbSNP (classic)	rs730882172
ClinGen	rs730882172
ebi	rs730882172
HLI	rs730882172
Exac	rs730882172
Gnomad	rs730882172
Varsome	rs730882172
LitVar	rs730882172
Map	rs730882172
PheGenI	rs730882172
Biobank	rs730882172
1000 genomes	rs730882172
hgdp	rs730882172
ensembl	rs730882172
geneview	rs730882172
scholar	rs730882172
google	rs730882172
pharmgkb	rs730882172
gwascentral	rs730882172
openSNP	rs730882172
23andMe	rs730882172
SNPshot	rs730882172
SNPdbe	rs730882172
MSV3d	rs730882172
GWAS Ctlg	rs730882172

Max Magnitude

0

ClinVar
Risk	rs730882172(A;A)
Alt	rs730882172(A;A)
Reference	Rs730882172(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.211093389G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000185594.4, RCV000190322.1,