Have questions? Visit https://www.reddit.com/r/SNPedia

rs672601312

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs672601312(G;T)
Make rs672601312(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position1014359
GeneISG15
is asnp
is mentioned by
dbSNPrs672601312
ebirs672601312
HLIrs672601312
Exacrs672601312
Varsomers672601312
Maprs672601312
PheGenIrs672601312
hapmaprs672601312
1000 genomesrs672601312
hgdprs672601312
ensemblrs672601312
gopubmedrs672601312
geneviewrs672601312
scholarrs672601312
googlers672601312
pharmgkbrs672601312
gwascentralrs672601312
openSNPrs672601312
23andMers672601312
23andMe allrs672601312
SNP Nexus

SNPshotrs672601312
SNPdbers672601312
MSV3drs672601312
GWAS Ctlgrs672601312
Max Magnitude0
ClinVar
Risk rs672601312(T;T)
Alt rs672601312(T;T)
Reference rs672601312(G;G)
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.949739G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000148988.5,