rs121908493

Orientation

plus

Stabilized

plus

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

Make rs121908493(A;A)

Make rs121908493(A;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

20617755

Gene

SLC6A5

is a	snp
is	mentioned by
dbSNP	rs121908493
dbSNP (classic)	rs121908493
ClinGen	rs121908493
ebi	rs121908493
HLI	rs121908493
Exac	rs121908493
Gnomad	rs121908493
Varsome	rs121908493
LitVar	rs121908493
Map	rs121908493
PheGenI	rs121908493
Biobank	rs121908493
1000 genomes	rs121908493
hgdp	rs121908493
ensembl	rs121908493
geneview	rs121908493
scholar	rs121908493
google	rs121908493
pharmgkb	rs121908493
gwascentral	rs121908493
openSNP	rs121908493
23andMe	rs121908493
SNPshot	rs121908493
SNPdbe	rs121908493
MSV3d	rs121908493
GWAS Ctlg	rs121908493

Max Magnitude

0

OMIM	604159
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121908493(A;A)
Alt	rs121908493(A;A)
Reference	Rs121908493(C;C)
Significance	Pathogenic
Disease	Hyperekplexia 3
Variation	info
Gene	SLC6A5
CLNDBN	Hyperekplexia 3
Reversed	0
HGVS	NC_000011.9:g.20639301C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006117.2,