rs786201005

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of an immunodeficiency mutation
(T;T)	3	Causes a lack of ISG15 which in turn causes basal ganglia calcification, auto-inflammation and susceptibility to mycobacterial disease

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

1014143

Gene

ISG15

is a	snp
is	mentioned by
dbSNP	rs786201005
dbSNP (classic)	rs786201005
ClinGen	rs786201005
ebi	rs786201005
HLI	rs786201005
Exac	rs786201005
Gnomad	rs786201005
Varsome	rs786201005
LitVar	rs786201005
Map	rs786201005
PheGenI	rs786201005
Biobank	rs786201005
1000 genomes	rs786201005
hgdp	rs786201005
ensembl	rs786201005
geneview	rs786201005
scholar	rs786201005
google	rs786201005
pharmgkb	rs786201005
gwascentral	rs786201005
openSNP	rs786201005
23andMe	rs786201005
SNPshot	rs786201005
SNPdbe	rs786201005
MSV3d	rs786201005
GWAS Ctlg	rs786201005

Max Magnitude

3

ClinVar
Risk	Rs786201005(T;T)
Alt	Rs786201005(T;T)
Reference	Rs786201005(C;C)
Significance	Pathogenic
Disease	Immunodeficiency 38 with basal ganglia calcification
Variation	info
Gene	ISG15
CLNDBN	Immunodeficiency 38 with basal ganglia calcification
Reversed	0
HGVS	NC_000001.10:g.949523C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000162196.3,