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rs786201005

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786201005(C;T)
Make rs786201005(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position1014143
GeneISG15
is asnp
is mentioned by
dbSNPrs786201005
ebirs786201005
HLIrs786201005
Exacrs786201005
Varsomers786201005
Maprs786201005
PheGenIrs786201005
hapmaprs786201005
1000 genomesrs786201005
hgdprs786201005
ensemblrs786201005
gopubmedrs786201005
geneviewrs786201005
scholarrs786201005
googlers786201005
pharmgkbrs786201005
gwascentralrs786201005
openSNPrs786201005
23andMers786201005
23andMe allrs786201005
SNP Nexus

SNPshotrs786201005
SNPdbers786201005
MSV3drs786201005
GWAS Ctlgrs786201005
Max Magnitude0
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,