rs121908495

Orientation

plus

Stabilized

plus

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

Make rs121908495(C;T)

Make rs121908495(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

20638477

Gene

SLC6A5

is a	snp
is	mentioned by
dbSNP	rs121908495
dbSNP (classic)	rs121908495
ClinGen	rs121908495
ebi	rs121908495
HLI	rs121908495
Exac	rs121908495
Gnomad	rs121908495
Varsome	rs121908495
LitVar	rs121908495
Map	rs121908495
PheGenI	rs121908495
Biobank	rs121908495
1000 genomes	rs121908495
hgdp	rs121908495
ensembl	rs121908495
geneview	rs121908495
scholar	rs121908495
google	rs121908495
pharmgkb	rs121908495
gwascentral	rs121908495
openSNP	rs121908495
23andMe	rs121908495
SNPshot	rs121908495
SNPdbe	rs121908495
MSV3d	rs121908495
GWAS Ctlg	rs121908495

Max Magnitude

0

OMIM	604159
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121908495(T;T)
Alt	rs121908495(T;T)
Reference	Rs121908495(C;C)
Significance	Pathogenic
Disease	Hyperekplexia 3
Variation	info
Gene	SLC6A5
CLNDBN	Hyperekplexia 3
Reversed	0
HGVS	NC_000011.9:g.20660023C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006120.4,