rs727502820

Orientation

minus

Stabilized

minus

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

Make rs727502820(C;T)

Make rs727502820(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

210804083

Gene

KCNH1

is a	snp
is	mentioned by
dbSNP	rs727502820
dbSNP (classic)	rs727502820
ClinGen	rs727502820
ebi	rs727502820
HLI	rs727502820
Exac	rs727502820
Gnomad	rs727502820
Varsome	rs727502820
LitVar	rs727502820
Map	rs727502820
PheGenI	rs727502820
Biobank	rs727502820
1000 genomes	rs727502820
hgdp	rs727502820
ensembl	rs727502820
geneview	rs727502820
scholar	rs727502820
google	rs727502820
pharmgkb	rs727502820
gwascentral	rs727502820
openSNP	rs727502820
23andMe	rs727502820
SNPshot	rs727502820
SNPdbe	rs727502820
MSV3d	rs727502820
GWAS Ctlg	rs727502820

Max Magnitude

0

ClinVar
Risk	rs727502820(T;T)
Alt	rs727502820(T;T)
Reference	Rs727502820(C;C)
Significance	Pathogenic
Disease	Temple-Baraitser syndrome
Variation	info
Gene	KCNH1
CLNDBN	Temple-Baraitser syndrome
Reversed	1
HGVS	NC_000001.10:g.210977425G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000149911.6,