rs63750567

Orientation

plus

Stabilized

plus

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

Make rs63750567(C;C)

Make rs63750567(C;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

38925231

Gene

OSMR

is a	snp
is	mentioned by
dbSNP	rs63750567
dbSNP (classic)	rs63750567
ClinGen	rs63750567
ebi	rs63750567
HLI	rs63750567
Exac	rs63750567
Gnomad	rs63750567
Varsome	rs63750567
LitVar	rs63750567
Map	rs63750567
PheGenI	rs63750567
Biobank	rs63750567
1000 genomes	rs63750567
hgdp	rs63750567
ensembl	rs63750567
geneview	rs63750567
scholar	rs63750567
google	rs63750567
pharmgkb	rs63750567
gwascentral	rs63750567
openSNP	rs63750567
23andMe	rs63750567
SNPshot	rs63750567
SNPdbe	rs63750567
MSV3d	rs63750567
GWAS Ctlg	rs63750567

Max Magnitude

0

OMIM	601743
Desc
Variant	0001
Related	also

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 UniProtKB (protein)
CLNACC	RCV000008251.2,

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