rs1057516969

Orientation

minus

Stabilized

minus

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

Make rs1057516969(A;A)

Make rs1057516969(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

34236014

Gene

SLC12A6

is a	snp
is	mentioned by
dbSNP	rs1057516969
dbSNP (classic)	rs1057516969
ClinGen	rs1057516969
ebi	rs1057516969
HLI	rs1057516969
Exac	rs1057516969
Gnomad	rs1057516969
Varsome	rs1057516969
LitVar	rs1057516969
Map	rs1057516969
PheGenI	rs1057516969
Biobank	rs1057516969
1000 genomes	rs1057516969
hgdp	rs1057516969
ensembl	rs1057516969
geneview	rs1057516969
scholar	rs1057516969
google	rs1057516969
pharmgkb	rs1057516969
gwascentral	rs1057516969
openSNP	rs1057516969
23andMe	rs1057516969
SNPshot	rs1057516969
SNPdbe	rs1057516969
MSV3d	rs1057516969
GWAS Ctlg	rs1057516969

Max Magnitude

0

ClinVar
Risk	rs1057516969(A;A)
Alt	rs1057516969(A;A)
Reference	Rs1057516969(G;G)
Significance	Probable-Pathogenic
Disease	Andermann syndrome
Variation	info
Gene	SLC12A6
CLNDBN	Andermann syndrome
Reversed	1
HGVS	NC_000015.9:g.34528215C>T
CLNSRC
CLNACC	RCV000412065.1,