rs200203460

Orientation

plus

Stabilized

plus

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

Make rs200203460(A;A)

Make rs200203460(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

11

Position

72302312

Gene

CLPB

is a	snp
is	mentioned by
dbSNP	rs200203460
dbSNP (classic)	rs200203460
ClinGen	rs200203460
ebi	rs200203460
HLI	rs200203460
Exac	rs200203460
Gnomad	rs200203460
Varsome	rs200203460
LitVar	rs200203460
Map	rs200203460
PheGenI	rs200203460
Biobank	rs200203460
1000 genomes	rs200203460
hgdp	rs200203460
ensembl	rs200203460
geneview	rs200203460
scholar	rs200203460
google	rs200203460
pharmgkb	rs200203460
gwascentral	rs200203460
openSNP	rs200203460
23andMe	rs200203460
SNPshot	rs200203460
SNPdbe	rs200203460
MSV3d	rs200203460
GWAS Ctlg	rs200203460

Max Magnitude

0

ClinVar
Risk	rs200203460(A;A) rs200203460(T;T)
Alt	rs200203460(A;A) rs200203460(T;T)
Reference	Rs200203460(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.72013356G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000167543.5,