rs727502821

Orientation

minus

Stabilized

minus

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

Make rs727502821(A;G)

Make rs727502821(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

210804121

Gene

KCNH1

is a	snp
is	mentioned by
dbSNP	rs727502821
dbSNP (classic)	rs727502821
ClinGen	rs727502821
ebi	rs727502821
HLI	rs727502821
Exac	rs727502821
Gnomad	rs727502821
Varsome	rs727502821
LitVar	rs727502821
Map	rs727502821
PheGenI	rs727502821
Biobank	rs727502821
1000 genomes	rs727502821
hgdp	rs727502821
ensembl	rs727502821
geneview	rs727502821
scholar	rs727502821
google	rs727502821
pharmgkb	rs727502821
gwascentral	rs727502821
openSNP	rs727502821
23andMe	rs727502821
SNPshot	rs727502821
SNPdbe	rs727502821
MSV3d	rs727502821
GWAS Ctlg	rs727502821

Max Magnitude

0

ClinVar
Risk	rs727502821(G;G)
Alt	rs727502821(G;G)
Reference	Rs727502821(A;A)
Significance	Pathogenic
Disease	Temple-Baraitser syndrome
Variation	info
Gene	KCNH1
CLNDBN	Temple-Baraitser syndrome
Reversed	1
HGVS	NC_000001.10:g.210977463T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000149912.4,