rs397515570

Orientation

minus

Stabilized

minus

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

Make rs397515570(-;-)

Make rs397515570(-;A)

Reference

GRCh38 38.1/141

Chromosome

2

Position

230212971

Gene	SP110, SP140

is a	snp
is	mentioned by
dbSNP	rs397515570
dbSNP (classic)	rs397515570
ClinGen	rs397515570
ebi	rs397515570
HLI	rs397515570
Exac	rs397515570
Gnomad	rs397515570
Varsome	rs397515570
LitVar	rs397515570
Map	rs397515570
PheGenI	rs397515570
Biobank	rs397515570
1000 genomes	rs397515570
hgdp	rs397515570
ensembl	rs397515570
geneview	rs397515570
scholar	rs397515570
google	rs397515570
pharmgkb	rs397515570
gwascentral	rs397515570
openSNP	rs397515570
23andMe	rs397515570
SNPshot	rs397515570
SNPdbe	rs397515570
MSV3d	rs397515570
GWAS Ctlg	rs397515570

Max Magnitude

0

ClinVar
Risk	rs397515570(-;-)
Alt	rs397515570(-;-)
Reference	Rs397515570(A;A)
Significance	Pathogenic
Disease	Hepatic venoocclusive disease with immunodeficiency
Variation	info
Gene	SP110 LOC101928789
CLNDBN	Hepatic venoocclusive disease with immunodeficiency
Reversed	1
HGVS	NC_000002.11:g.231077686delT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000055975.1,