rs121908429

Orientation

minus

Stabilized

minus

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

Make rs121908429(C;T)

Make rs121908429(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

34257713

Gene

SLC12A6

is a	snp
is	mentioned by
dbSNP	rs121908429
dbSNP (classic)	rs121908429
ClinGen	rs121908429
ebi	rs121908429
HLI	rs121908429
Exac	rs121908429
Gnomad	rs121908429
Varsome	rs121908429
LitVar	rs121908429
Map	rs121908429
PheGenI	rs121908429
Biobank	rs121908429
1000 genomes	rs121908429
hgdp	rs121908429
ensembl	rs121908429
geneview	rs121908429
scholar	rs121908429
google	rs121908429
pharmgkb	rs121908429
gwascentral	rs121908429
openSNP	rs121908429
23andMe	rs121908429
SNPshot	rs121908429
SNPdbe	rs121908429
MSV3d	rs121908429
GWAS Ctlg	rs121908429

Max Magnitude

0

OMIM	604878
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121908429(T;T)
Alt	rs121908429(T;T)
Reference	Rs121908429(C;C)
Significance	Pathogenic
Disease	Andermann syndrome
Variation	info
Gene	SLC12A6
CLNDBN	Andermann syndrome
Reversed	1
HGVS	NC_000015.9:g.34549914G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005657.2,