rs386833839

Orientation

minus

Stabilized

minus

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

Make rs386833839(A;A)

Make rs386833839(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

35907559

Gene

TYROBP

is a	snp
is	mentioned by
dbSNP	rs386833839
dbSNP (classic)	rs386833839
ClinGen	rs386833839
ebi	rs386833839
HLI	rs386833839
Exac	rs386833839
Gnomad	rs386833839
Varsome	rs386833839
LitVar	rs386833839
Map	rs386833839
PheGenI	rs386833839
Biobank	rs386833839
1000 genomes	rs386833839
hgdp	rs386833839
ensembl	rs386833839
geneview	rs386833839
scholar	rs386833839
google	rs386833839
pharmgkb	rs386833839
gwascentral	rs386833839
openSNP	rs386833839
23andMe	rs386833839
SNPshot	rs386833839
SNPdbe	rs386833839
MSV3d	rs386833839
GWAS Ctlg	rs386833839

Max Magnitude

0

ClinVar
Risk	rs386833839(A;A)
Alt	rs386833839(A;A)
Reference	Rs386833839(G;G)
Significance	Probable-Pathogenic
Disease	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Variation	info
Gene	TYROBP
CLNDBN	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Reversed	1
HGVS	NC_000019.9:g.36398461C>T
CLNSRC	ClinVar
CLNACC	RCV000049807.1,

[PMID 20500450] Nasu-Hakola disease: The first case reported by Nasu and review.