rs397515571

Orientation

minus

Stabilized

minus

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

Make rs397515571(-;G)

Make rs397515571(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

230212345

Gene	SP110, SP140

is a	snp
is	mentioned by
dbSNP	rs397515571
dbSNP (classic)	rs397515571
ClinGen	rs397515571
ebi	rs397515571
HLI	rs397515571
Exac	rs397515571
Gnomad	rs397515571
Varsome	rs397515571
LitVar	rs397515571
Map	rs397515571
PheGenI	rs397515571
Biobank	rs397515571
1000 genomes	rs397515571
hgdp	rs397515571
ensembl	rs397515571
geneview	rs397515571
scholar	rs397515571
google	rs397515571
pharmgkb	rs397515571
gwascentral	rs397515571
openSNP	rs397515571
23andMe	rs397515571
SNPshot	rs397515571
SNPdbe	rs397515571
MSV3d	rs397515571
GWAS Ctlg	rs397515571

Max Magnitude

0

ClinVar
Risk	rs397515571(G;G)
Alt	rs397515571(G;G)
Reference	Rs397515571(-;-)
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.231077061dupC
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000055978.2,