rs121912488

Orientation

minus

Stabilized

minus

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

Make rs121912488(C;T)

Make rs121912488(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

49131129

Gene

LAMB2

is a	snp
is	mentioned by
dbSNP	rs121912488
dbSNP (classic)	rs121912488
ClinGen	rs121912488
ebi	rs121912488
HLI	rs121912488
Exac	rs121912488
Gnomad	rs121912488
Varsome	rs121912488
LitVar	rs121912488
Map	rs121912488
PheGenI	rs121912488
Biobank	rs121912488
1000 genomes	rs121912488
hgdp	rs121912488
ensembl	rs121912488
geneview	rs121912488
scholar	rs121912488
google	rs121912488
pharmgkb	rs121912488
gwascentral	rs121912488
openSNP	rs121912488
23andMe	rs121912488
SNPshot	rs121912488
SNPdbe	rs121912488
MSV3d	rs121912488
GWAS Ctlg	rs121912488

Max Magnitude

0

OMIM	150325
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121912488(T;T)
Alt	rs121912488(T;T)
Reference	Rs121912488(C;C)
Significance	Pathogenic
Disease	Pierson syndrome
Variation	info
Gene	LAMB2
CLNDBN	Pierson syndrome
Reversed	1
HGVS	NC_000003.11:g.49168562G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015629.25,