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rs63750560

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs63750560(C;C)
Make rs63750560(C;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position38923237
GeneOSMR
is asnp
is mentioned by
dbSNPrs63750560
ebirs63750560
HLIrs63750560
Exacrs63750560
Varsomers63750560
Maprs63750560
PheGenIrs63750560
hapmaprs63750560
1000 genomesrs63750560
hgdprs63750560
ensemblrs63750560
gopubmedrs63750560
geneviewrs63750560
scholarrs63750560
googlers63750560
pharmgkbrs63750560
gwascentralrs63750560
openSNPrs63750560
23andMers63750560
23andMe allrs63750560
SNP Nexus

SNPshotrs63750560
SNPdbers63750560
MSV3drs63750560
GWAS Ctlgrs63750560
Max Magnitude0
OMIM601743
Desc
Variant0002
Relatedalso


ClinVar
Risk rs63750560(C;C)
Alt rs63750560(C;C)
Reference rs63750560(G;G)
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.38923339G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008252.2,



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