rs120074195

Orientation

plus

Stabilized

plus

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

Make rs120074195(C;C)

Make rs120074195(C;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

2572984

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs120074195
dbSNP (classic)	rs120074195
ClinGen	rs120074195
ebi	rs120074195
HLI	rs120074195
Exac	rs120074195
Gnomad	rs120074195
Varsome	rs120074195
LitVar	rs120074195
Map	rs120074195
PheGenI	rs120074195
Biobank	rs120074195
1000 genomes	rs120074195
hgdp	rs120074195
ensembl	rs120074195
geneview	rs120074195
scholar	rs120074195
google	rs120074195
pharmgkb	rs120074195
gwascentral	rs120074195
openSNP	rs120074195
23andMe	rs120074195
SNPshot	rs120074195
SNPdbe	rs120074195
MSV3d	rs120074195
GWAS Ctlg	rs120074195

Max Magnitude

0

OMIM	607542
Desc
Variant	0037
Related	also

ClinVar
Risk	rs120074195(C;C)
Alt	rs120074195(C;C)
Reference	Rs120074195(G;G)
Significance	Pathogenic
Disease	Short QT syndrome 2 Short QT syndrome
Variation	info
Gene	KCNQ1
CLNDBN	Short QT syndrome 2 short QT syndrome
Reversed	0
HGVS	NC_000011.9:g.2594214G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003298.5, RCV000057800.3,

[PMID 15051636] Compound mutations: a common cause of severe long-QT syndrome.

[PMID 15159330] Mutation in the KCNQ1 gene leading to the short QT-interval syndrome.

[PMID 20436212] Action potential clamp and mefloquine sensitivity of recombinant 'I KS' channels incorporating the V307L KCNQ1 mutation.