rs606231311

Orientation

minus

Stabilized

minus

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

Make rs606231311(-;-)

Make rs606231311(-;TAAT)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

112917656

Gene

SLC16A1

is a	snp
is	mentioned by
dbSNP	rs606231311
dbSNP (classic)	rs606231311
ClinGen	rs606231311
ebi	rs606231311
HLI	rs606231311
Exac	rs606231311
Gnomad	rs606231311
Varsome	rs606231311
LitVar	rs606231311
Map	rs606231311
PheGenI	rs606231311
Biobank	rs606231311
1000 genomes	rs606231311
hgdp	rs606231311
ensembl	rs606231311
geneview	rs606231311
scholar	rs606231311
google	rs606231311
pharmgkb	rs606231311
gwascentral	rs606231311
openSNP	rs606231311
23andMe	rs606231311
SNPshot	rs606231311
SNPdbe	rs606231311
MSV3d	rs606231311
GWAS Ctlg	rs606231311

Max Magnitude

0

ClinVar
Risk	rs606231311(-;-)
Alt	rs606231311(-;-)
Reference	Rs606231311(TAAT;TAAT)
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.113460278_113460281delATTA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000148038.3,