rs72552271

Orientation

minus

Stabilized

minus

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

Make rs72552271(A;A)

Make rs72552271(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

112913980

Gene

SLC16A1

is a	snp
is	mentioned by
dbSNP	rs72552271
dbSNP (classic)	rs72552271
ClinGen	rs72552271
ebi	rs72552271
HLI	rs72552271
Exac	rs72552271
Gnomad	rs72552271
Varsome	rs72552271
LitVar	rs72552271
Map	rs72552271
PheGenI	rs72552271
Biobank	rs72552271
1000 genomes	rs72552271
hgdp	rs72552271
ensembl	rs72552271
geneview	rs72552271
scholar	rs72552271
google	rs72552271
pharmgkb	rs72552271
gwascentral	rs72552271
openSNP	rs72552271
23andMe	rs72552271
SNPshot	rs72552271
SNPdbe	rs72552271
MSV3d	rs72552271
GWAS Ctlg	rs72552271

GMAF

0.002296

Max Magnitude

0

OMIM	600682
Desc
Variant	0002
Related	also

ClinVar
Risk	rs72552271(A;A)
Alt	rs72552271(A;A)
Reference	Rs72552271(G;G)
Significance	Pathogenic
Disease	Erythrocyte lactate transporter defect not specified
Variation	info
Gene	SLC16A1
CLNDBN	Erythrocyte lactate transporter defect not specified
Reversed	1
HGVS	NC_000001.10:g.113456602C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009470.2, RCV000193787.1,