rs121908497

Orientation

plus

Stabilized

plus

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

Make rs121908497(A;G)

Make rs121908497(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

20630717

Gene

SLC6A5

is a	snp
is	mentioned by
dbSNP	rs121908497
dbSNP (classic)	rs121908497
ClinGen	rs121908497
ebi	rs121908497
HLI	rs121908497
Exac	rs121908497
Gnomad	rs121908497
Varsome	rs121908497
LitVar	rs121908497
Map	rs121908497
PheGenI	rs121908497
Biobank	rs121908497
1000 genomes	rs121908497
hgdp	rs121908497
ensembl	rs121908497
geneview	rs121908497
scholar	rs121908497
google	rs121908497
pharmgkb	rs121908497
gwascentral	rs121908497
openSNP	rs121908497
23andMe	rs121908497
SNPshot	rs121908497
SNPdbe	rs121908497
MSV3d	rs121908497
GWAS Ctlg	rs121908497

Max Magnitude

0

OMIM	604159
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121908497(G;G)
Alt	rs121908497(G;G)
Reference	Rs121908497(A;A)
Significance	Pathogenic
Disease	Hyperekplexia 3
Variation	info
Gene	SLC6A5
CLNDBN	Hyperekplexia 3
Reversed	0
HGVS	NC_000011.9:g.20652263A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006122.4,