rs1443547

Orientation

plus

Stabilized

plus

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

Make rs1443547(A;A)

Make rs1443547(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

20601429

Gene

SLC6A5

is a	snp
is	mentioned by
dbSNP	rs1443547
dbSNP (classic)	rs1443547
ClinGen	rs1443547
ebi	rs1443547
HLI	rs1443547
Exac	rs1443547
Gnomad	rs1443547
Varsome	rs1443547
LitVar	rs1443547
Map	rs1443547
PheGenI	rs1443547
Biobank	rs1443547
1000 genomes	rs1443547
hgdp	rs1443547
ensembl	rs1443547
geneview	rs1443547
scholar	rs1443547
google	rs1443547
pharmgkb	rs1443547
gwascentral	rs1443547
openSNP	rs1443547
23andMe	rs1443547
SNPshot	rs1443547
SNPdbe	rs1443547
MSV3d	rs1443547
GWAS Ctlg	rs1443547

GMAF

0.3696

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

[PMID 19650813] No association of alcohol dependence with SLC6A5 and SLC6A9 glycine transporter polymorphisms

ClinVar
Risk	rs1443547(A;A)
Alt	rs1443547(A;A)
Reference	Rs1443547(G;G)
Significance	Non-pathogenic
Disease	Hyperekplexia
Variation	info
Gene	SLC6A5
CLNDBN	Hyperekplexia
Reversed	0
HGVS	NC_000011.9:g.20622975G>A
CLNSRC
CLNACC	RCV000354866.1,