rs606231301

Orientation

minus

Stabilized

minus

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

Make rs606231301(-;-)

Make rs606231301(-;G)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

112917907

Gene

SLC16A1

is a	snp
is	mentioned by
dbSNP	rs606231301
dbSNP (classic)	rs606231301
ClinGen	rs606231301
ebi	rs606231301
HLI	rs606231301
Exac	rs606231301
Gnomad	rs606231301
Varsome	rs606231301
LitVar	rs606231301
Map	rs606231301
PheGenI	rs606231301
Biobank	rs606231301
1000 genomes	rs606231301
hgdp	rs606231301
ensembl	rs606231301
geneview	rs606231301
scholar	rs606231301
google	rs606231301
pharmgkb	rs606231301
gwascentral	rs606231301
openSNP	rs606231301
23andMe	rs606231301
SNPshot	rs606231301
SNPdbe	rs606231301
MSV3d	rs606231301
GWAS Ctlg	rs606231301

Max Magnitude

0

ClinVar
Risk	rs606231301(-;-)
Alt	rs606231301(-;-)
Reference	Rs606231301(G;G)
Significance	Pathogenic
Disease	Monocarboxylate transporter 1 deficiency
Variation	info
Gene	SLC16A1
CLNDBN	Monocarboxylate transporter 1 deficiency, autosomal dominant
Reversed	1
HGVS	NC_000001.10:g.113460529delC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000145412.3,