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rs672601345

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs672601345(-;-)
Make rs672601345(-;G)
Make rs672601345(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position1014319
GeneISG15
is asnp
is mentioned by
dbSNPrs672601345
ebirs672601345
HLIrs672601345
Exacrs672601345
Varsomers672601345
Maprs672601345
PheGenIrs672601345
hapmaprs672601345
1000 genomesrs672601345
hgdprs672601345
ensemblrs672601345
gopubmedrs672601345
geneviewrs672601345
scholarrs672601345
googlers672601345
pharmgkbrs672601345
gwascentralrs672601345
openSNPrs672601345
23andMers672601345
23andMe allrs672601345
SNP Nexus

SNPshotrs672601345
SNPdbers672601345
MSV3drs672601345
GWAS Ctlgrs672601345
Max Magnitude0
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,