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rs267607208

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607208(C;T)
Make rs267607208(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position49123179
GeneLAMB2
is asnp
is mentioned by
dbSNPrs267607208
ebirs267607208
HLIrs267607208
Exacrs267607208
Varsomers267607208
Maprs267607208
PheGenIrs267607208
hapmaprs267607208
1000 genomesrs267607208
hgdprs267607208
ensemblrs267607208
gopubmedrs267607208
geneviewrs267607208
scholarrs267607208
googlers267607208
pharmgkbrs267607208
gwascentralrs267607208
openSNPrs267607208
23andMers267607208
23andMe allrs267607208
SNP Nexus

SNPshotrs267607208
SNPdbers267607208
MSV3drs267607208
GWAS Ctlgrs267607208
Max Magnitude0
ClinVar
Risk rs267607208(T;T)
Alt rs267607208(T;T)
Reference rs267607208(C;C)
Significance Pathogenic
Disease Nephrotic syndrome
Variation info
Gene LAMB2
CLNDBN Nephrotic syndrome, type 5, with or without ocular abnormalities
Reversed 1
HGVS NC_000003.11:g.49160612G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015634.21,