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rs879253733

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs879253733(A;G)
Make rs879253733(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome10
Position94594702
GeneHELLS
is asnp
is mentioned by
dbSNPrs879253733
ebirs879253733
HLIrs879253733
Exacrs879253733
Varsomers879253733
Maprs879253733
PheGenIrs879253733
hapmaprs879253733
1000 genomesrs879253733
hgdprs879253733
ensemblrs879253733
gopubmedrs879253733
geneviewrs879253733
scholarrs879253733
googlers879253733
pharmgkbrs879253733
gwascentralrs879253733
openSNPrs879253733
23andMers879253733
23andMe allrs879253733
SNP Nexus

SNPshotrs879253733
SNPdbers879253733
MSV3drs879253733
GWAS Ctlgrs879253733
Max Magnitude0
ClinVar
Risk rs879253733(G;G)
Alt rs879253733(G;G)
Reference rs879253733(A;A)
Significance Pathogenic
Disease Immunodeficiency-centromeric instability-facial anomalies syndrome 4
Variation info
Gene HELLS
CLNDBN Immunodeficiency-centromeric instability-facial anomalies syndrome 4
Reversed 0
HGVS NC_000010.10:g.96354459A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000210912.1,