rs748010262

Orientation

plus

Stabilized

plus

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

Make rs748010262(G;T)

Make rs748010262(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

11

Position

72294125

Gene

CLPB

is a	snp
is	mentioned by
dbSNP	rs748010262
dbSNP (classic)	rs748010262
ClinGen	rs748010262
ebi	rs748010262
HLI	rs748010262
Exac	rs748010262
Gnomad	rs748010262
Varsome	rs748010262
LitVar	rs748010262
Map	rs748010262
PheGenI	rs748010262
Biobank	rs748010262
1000 genomes	rs748010262
hgdp	rs748010262
ensembl	rs748010262
geneview	rs748010262
scholar	rs748010262
google	rs748010262
pharmgkb	rs748010262
gwascentral	rs748010262
openSNP	rs748010262
23andMe	rs748010262
SNPshot	rs748010262
SNPdbe	rs748010262
MSV3d	rs748010262
GWAS Ctlg	rs748010262

Max Magnitude

0

ClinVar
Risk	rs748010262(A;A) rs748010262(T;T)
Alt	rs748010262(A;A) rs748010262(T;T)
Reference	Rs748010262(G;G)
Significance	Pathogenic
Disease	3-methylglutaconic aciduria with cataracts
Variation	info
Gene	CLPB
CLNDBN	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia
Reversed	0
HGVS	NC_000011.9:g.72005169G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000167539.4,