rs397514673

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	3	Carrier of a SeSAME syndrome mutation
(G;G)	0	common in clinvar

Make rs397514673(A;A)

Reference

GRCh38 38.1/141

Chromosome

1

Position

160042009

Gene

KCNJ10

is a	snp
is	mentioned by
dbSNP	rs397514673
dbSNP (classic)	rs397514673
ClinGen	rs397514673
ebi	rs397514673
HLI	rs397514673
Exac	rs397514673
Gnomad	rs397514673
Varsome	rs397514673
LitVar	rs397514673
Map	rs397514673
PheGenI	rs397514673
Biobank	rs397514673
1000 genomes	rs397514673
hgdp	rs397514673
ensembl	rs397514673
geneview	rs397514673
scholar	rs397514673
google	rs397514673
pharmgkb	rs397514673
gwascentral	rs397514673
openSNP	rs397514673
23andMe	rs397514673
SNPshot	rs397514673
SNPdbe	rs397514673
MSV3d	rs397514673
GWAS Ctlg	rs397514673

Max Magnitude

3

aka c.524G>A (p.Arg175Gln or R175Q)

ClinVar
Risk	rs397514673(A;A)
Alt	rs397514673(A;A)
Reference	Rs397514673(G;G)
Significance	Pathogenic
Disease	SeSAME syndrome
Variation	info
Gene	KCNJ10
CLNDBN	SeSAME syndrome
Reversed	1
HGVS	NC_000001.10:g.160011799C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000034356.3,