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rs730880125

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730880125(C;T)
Make rs730880125(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position49124920
GeneLAMB2
is asnp
is mentioned by
dbSNPrs730880125
ebirs730880125
HLIrs730880125
Exacrs730880125
Varsomers730880125
Maprs730880125
PheGenIrs730880125
hapmaprs730880125
1000 genomesrs730880125
hgdprs730880125
ensemblrs730880125
gopubmedrs730880125
geneviewrs730880125
scholarrs730880125
googlers730880125
pharmgkbrs730880125
gwascentralrs730880125
openSNPrs730880125
23andMers730880125
23andMe allrs730880125
SNP Nexus

SNPshotrs730880125
SNPdbers730880125
MSV3drs730880125
GWAS Ctlgrs730880125
Max Magnitude0
ClinVar
Risk rs730880125(T;T)
Alt rs730880125(T;T)
Reference rs730880125(C;C)
Significance Pathogenic
Disease Pierson syndrome
Variation info
Gene LAMB2
CLNDBN Pierson syndrome
Reversed 1
HGVS NC_000003.11:g.49162353G>A
CLNSRC
CLNACC RCV000157282.1,