rs121912489

Orientation

minus

Stabilized

minus

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

Make rs121912489(C;G)

Make rs121912489(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

49126449

Gene

LAMB2

is a	snp
is	mentioned by
dbSNP	rs121912489
dbSNP (classic)	rs121912489
ClinGen	rs121912489
ebi	rs121912489
HLI	rs121912489
Exac	rs121912489
Gnomad	rs121912489
Varsome	rs121912489
LitVar	rs121912489
Map	rs121912489
PheGenI	rs121912489
Biobank	rs121912489
1000 genomes	rs121912489
hgdp	rs121912489
ensembl	rs121912489
geneview	rs121912489
scholar	rs121912489
google	rs121912489
pharmgkb	rs121912489
gwascentral	rs121912489
openSNP	rs121912489
23andMe	rs121912489
SNPshot	rs121912489
SNPdbe	rs121912489
MSV3d	rs121912489
GWAS Ctlg	rs121912489

Max Magnitude

0

OMIM	150325
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121912489(G;G)
Alt	rs121912489(G;G)
Reference	Rs121912489(C;C)
Significance	Pathogenic
Disease	Pierson syndrome
Variation	info
Gene	LAMB2
CLNDBN	Pierson syndrome
Reversed	1
HGVS	NC_000003.11:g.49163882G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015631.26,