rs63750560

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs63750560(C;C)

Make rs63750560(C;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

38923237

Gene

OSMR

is a	snp
is	mentioned by
dbSNP	rs63750560
dbSNP (classic)	rs63750560
ClinGen	rs63750560
ebi	rs63750560
HLI	rs63750560
Exac	rs63750560
Gnomad	rs63750560
Varsome	rs63750560
LitVar	rs63750560
Map	rs63750560
PheGenI	rs63750560
Biobank	rs63750560
1000 genomes	rs63750560
hgdp	rs63750560
ensembl	rs63750560
geneview	rs63750560
scholar	rs63750560
google	rs63750560
pharmgkb	rs63750560
gwascentral	rs63750560
openSNP	rs63750560
23andMe	rs63750560
SNPshot	rs63750560
SNPdbe	rs63750560
MSV3d	rs63750560
GWAS Ctlg	rs63750560

Max Magnitude

0

OMIM	601743
Desc
Variant	0002
Related	also

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 UniProtKB (protein)
CLNACC	RCV000008252.3,

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