rs727502819

Orientation

minus

Stabilized

minus

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

Make rs727502819(A;G)

Make rs727502819(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

210804149

Gene

KCNH1

is a	snp
is	mentioned by
dbSNP	rs727502819
dbSNP (classic)	rs727502819
ClinGen	rs727502819
ebi	rs727502819
HLI	rs727502819
Exac	rs727502819
Gnomad	rs727502819
Varsome	rs727502819
LitVar	rs727502819
Map	rs727502819
PheGenI	rs727502819
Biobank	rs727502819
1000 genomes	rs727502819
hgdp	rs727502819
ensembl	rs727502819
geneview	rs727502819
scholar	rs727502819
google	rs727502819
pharmgkb	rs727502819
gwascentral	rs727502819
openSNP	rs727502819
23andMe	rs727502819
SNPshot	rs727502819
SNPdbe	rs727502819
MSV3d	rs727502819
GWAS Ctlg	rs727502819

Max Magnitude

0

ClinVar
Risk	rs727502819(G;G)
Alt	rs727502819(G;G)
Reference	Rs727502819(A;A)
Significance	Pathogenic
Disease	Temple-Baraitser syndrome Zimmermann-Laband syndrome 1
Variation	info
Gene	KCNH1
CLNDBN	Temple-Baraitser syndrome Zimmermann-Laband syndrome 1
Reversed	1
HGVS	NC_000001.10:g.210977491T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000149910.6, RCV000185590.5,