rs397515362

Orientation

minus

Stabilized

minus

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

Make rs397515362(-;-)

Make rs397515362(-;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

230216888

Gene	SP110, SP140

is a	snp
is	mentioned by
dbSNP	rs397515362
dbSNP (classic)	rs397515362
ClinGen	rs397515362
ebi	rs397515362
HLI	rs397515362
Exac	rs397515362
Gnomad	rs397515362
Varsome	rs397515362
LitVar	rs397515362
Map	rs397515362
PheGenI	rs397515362
Biobank	rs397515362
1000 genomes	rs397515362
hgdp	rs397515362
ensembl	rs397515362
geneview	rs397515362
scholar	rs397515362
google	rs397515362
pharmgkb	rs397515362
gwascentral	rs397515362
openSNP	rs397515362
23andMe	rs397515362
SNPshot	rs397515362
SNPdbe	rs397515362
MSV3d	rs397515362
GWAS Ctlg	rs397515362

Max Magnitude

0

ClinVar
Risk	rs397515362(-;-)
Alt	rs397515362(-;-)
Reference	Rs397515362(C;C)
Significance	Pathogenic
Disease	Hepatic venoocclusive disease with immunodeficiency
Variation	info
Gene	SP110
CLNDBN	Hepatic venoocclusive disease with immunodeficiency
Reversed	1
HGVS	NC_000002.11:g.231081603delG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005876.4,