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rs63750567

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs63750567(C;C)
Make rs63750567(C;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position38925231
GeneOSMR
is asnp
is mentioned by
dbSNPrs63750567
ebirs63750567
HLIrs63750567
Exacrs63750567
Varsomers63750567
Maprs63750567
PheGenIrs63750567
hapmaprs63750567
1000 genomesrs63750567
hgdprs63750567
ensemblrs63750567
gopubmedrs63750567
geneviewrs63750567
scholarrs63750567
googlers63750567
pharmgkbrs63750567
gwascentralrs63750567
openSNPrs63750567
23andMers63750567
23andMe allrs63750567
SNP Nexus

SNPshotrs63750567
SNPdbers63750567
MSV3drs63750567
GWAS Ctlgrs63750567
Max Magnitude0
OMIM601743
Desc
Variant0001
Relatedalso


ClinVar
Risk rs63750567(C;C)
Alt rs63750567(C;C)
Reference rs63750567(T;T)
Significance Pathogenic
Disease Primary localized cutaneous amyloidosis 1
Variation info
Gene OSMR
CLNDBN Primary localized cutaneous amyloidosis 1
Reversed 0
HGVS NC_000005.9:g.38925333T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008251.2,



[PMID 18179886OA-icon.png] Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis.