rs199845488

Orientation

plus

Stabilized

plus

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

Make rs199845488(C;C)

Make rs199845488(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

230208012

Gene	SP110, SP140

is a	snp
is	mentioned by
dbSNP	rs199845488
dbSNP (classic)	rs199845488
ClinGen	rs199845488
ebi	rs199845488
HLI	rs199845488
Exac	rs199845488
Gnomad	rs199845488
Varsome	rs199845488
LitVar	rs199845488
Map	rs199845488
PheGenI	rs199845488
Biobank	rs199845488
1000 genomes	rs199845488
hgdp	rs199845488
ensembl	rs199845488
geneview	rs199845488
scholar	rs199845488
google	rs199845488
pharmgkb	rs199845488
gwascentral	rs199845488
openSNP	rs199845488
23andMe	rs199845488
SNPshot	rs199845488
SNPdbe	rs199845488
MSV3d	rs199845488
GWAS Ctlg	rs199845488

Max Magnitude

0

ClinVar
Risk	rs199845488(A;A) rs199845488(C;C)
Alt	rs199845488(A;A) rs199845488(C;C)
Reference	Rs199845488(T;T)
Significance	Probable-Pathogenic
Disease	Hepatic venoocclusive disease with immunodeficiency
Variation	info
Gene	SP110 LOC101928789
CLNDBN	Hepatic venoocclusive disease with immunodeficiency
Reversed	0
HGVS	NC_000002.11:g.231072727T>A
CLNSRC
CLNACC	RCV000169676.1,