rs121908498

Orientation

plus

Stabilized

plus

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

Make rs121908498(C;T)

Make rs121908498(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

20626721

Gene

SLC6A5

is a	snp
is	mentioned by
dbSNP	rs121908498
dbSNP (classic)	rs121908498
ClinGen	rs121908498
ebi	rs121908498
HLI	rs121908498
Exac	rs121908498
Gnomad	rs121908498
Varsome	rs121908498
LitVar	rs121908498
Map	rs121908498
PheGenI	rs121908498
Biobank	rs121908498
1000 genomes	rs121908498
hgdp	rs121908498
ensembl	rs121908498
geneview	rs121908498
scholar	rs121908498
google	rs121908498
pharmgkb	rs121908498
gwascentral	rs121908498
openSNP	rs121908498
23andMe	rs121908498
SNPshot	rs121908498
SNPdbe	rs121908498
MSV3d	rs121908498
GWAS Ctlg	rs121908498

Max Magnitude

0

OMIM	604159
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121908498(A;A) rs121908498(T;T)
Alt	rs121908498(A;A) rs121908498(T;T)
Reference	Rs121908498(C;C)
Significance	Pathogenic
Disease	Hyperekplexia 3
Variation	info
Gene	SLC6A5
CLNDBN	Hyperekplexia 3
Reversed	0
HGVS	NC_000011.9:g.20648267C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006123.3,