rs672601345

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

1014319

Gene

ISG15

is a	snp
is	mentioned by
dbSNP	rs672601345
dbSNP (classic)	rs672601345
ClinGen	rs672601345
ebi	rs672601345
HLI	rs672601345
Exac	rs672601345
Gnomad	rs672601345
Varsome	rs672601345
LitVar	rs672601345
Map	rs672601345
PheGenI	rs672601345
Biobank	rs672601345
1000 genomes	rs672601345
hgdp	rs672601345
ensembl	rs672601345
geneview	rs672601345
scholar	rs672601345
google	rs672601345
pharmgkb	rs672601345
gwascentral	rs672601345
openSNP	rs672601345
23andMe	rs672601345
SNPshot	rs672601345
SNPdbe	rs672601345
MSV3d	rs672601345
GWAS Ctlg	rs672601345

Max Magnitude

3

ClinVar
Risk	Rs672601345(G;G)
Alt	Rs672601345(G;G)
Reference	Rs672601345(-;-)
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.949699dupG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000148989.5,