rs1057519314

Orientation

minus

Stabilized

minus

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

Make rs1057519314(C;T)

Make rs1057519314(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

44000805

Gene

SLC6A9

is a	snp
is	mentioned by
dbSNP	rs1057519314
dbSNP (classic)	rs1057519314
ClinGen	rs1057519314
ebi	rs1057519314
HLI	rs1057519314
Exac	rs1057519314
Gnomad	rs1057519314
Varsome	rs1057519314
LitVar	rs1057519314
Map	rs1057519314
PheGenI	rs1057519314
Biobank	rs1057519314
1000 genomes	rs1057519314
hgdp	rs1057519314
ensembl	rs1057519314
geneview	rs1057519314
scholar	rs1057519314
google	rs1057519314
pharmgkb	rs1057519314
gwascentral	rs1057519314
openSNP	rs1057519314
23andMe	rs1057519314
SNPshot	rs1057519314
SNPdbe	rs1057519314
MSV3d	rs1057519314
GWAS Ctlg	rs1057519314

Max Magnitude

0

ClinVar
Risk	rs1057519314(T;T)
Alt	rs1057519314(T;T)
Reference	Rs1057519314(C;C)
Significance	Pathogenic
Disease	Glycine encephalopathy with normal serum glycine
Variation	info
Gene	SLC6A9
CLNDBN	Glycine encephalopathy with normal serum glycine
Reversed	1
HGVS	NC_000001.10:g.44466477G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000415706.1,