rs121912490

Orientation

minus

Stabilized

minus

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

Make rs121912490(A;A)

Make rs121912490(A;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

49130334

Gene

LAMB2

is a	snp
is	mentioned by
dbSNP	rs121912490
dbSNP (classic)	rs121912490
ClinGen	rs121912490
ebi	rs121912490
HLI	rs121912490
Exac	rs121912490
Gnomad	rs121912490
Varsome	rs121912490
LitVar	rs121912490
Map	rs121912490
PheGenI	rs121912490
Biobank	rs121912490
1000 genomes	rs121912490
hgdp	rs121912490
ensembl	rs121912490
geneview	rs121912490
scholar	rs121912490
google	rs121912490
pharmgkb	rs121912490
gwascentral	rs121912490
openSNP	rs121912490
23andMe	rs121912490
SNPshot	rs121912490
SNPdbe	rs121912490
MSV3d	rs121912490
GWAS Ctlg	rs121912490

Max Magnitude

0

OMIM	150325
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121912490(A;A)
Alt	rs121912490(A;A)
Reference	Rs121912490(T;T)
Significance	Pathogenic
Disease	Pierson syndrome
Variation	info
Gene	LAMB2
CLNDBN	Pierson syndrome
Reversed	1
HGVS	NC_000003.11:g.49167767A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015632.23,