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rs104894481

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894481(C;C)
Make rs104894481(C;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position44711577
GeneB2M, LOC102724979, PATL2
is asnp
is mentioned by
dbSNPrs104894481
dbSNP (classic)rs104894481
ClinGenrs104894481
ebirs104894481
HLIrs104894481
Exacrs104894481
Gnomadrs104894481
Varsomers104894481
LitVarrs104894481
Maprs104894481
PheGenIrs104894481
Biobankrs104894481
1000 genomesrs104894481
hgdprs104894481
ensemblrs104894481
geneviewrs104894481
scholarrs104894481
googlers104894481
pharmgkbrs104894481
gwascentralrs104894481
openSNPrs104894481
23andMers104894481
SNPshotrs104894481
SNPdbers104894481
MSV3drs104894481
GWAS Ctlgrs104894481
Max Magnitude0
OMIM109700
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894481(C;C) rs104894481(T;T)
Alt rs104894481(C;C) rs104894481(T;T)
Reference Rs104894481(G;G)
Significance Pathogenic
Disease Hypoproteinemia
Variation info
Gene B2M
CLNDBN Hypoproteinemia, hypercatabolic
Reversed 0
HGVS NC_000015.9:g.45003775G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019314.25,