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rs879253735

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs879253735(A;T)
Make rs879253735(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome10
Position94574092
GeneHELLS
is asnp
is mentioned by
dbSNPrs879253735
ebirs879253735
HLIrs879253735
Exacrs879253735
Varsomers879253735
Maprs879253735
PheGenIrs879253735
hapmaprs879253735
1000 genomesrs879253735
hgdprs879253735
ensemblrs879253735
gopubmedrs879253735
geneviewrs879253735
scholarrs879253735
googlers879253735
pharmgkbrs879253735
gwascentralrs879253735
openSNPrs879253735
23andMers879253735
23andMe allrs879253735
SNP Nexus

SNPshotrs879253735
SNPdbers879253735
MSV3drs879253735
GWAS Ctlgrs879253735
Max Magnitude0
ClinVar
Risk rs879253735(T;T)
Alt rs879253735(T;T)
Reference rs879253735(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.96333849A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000210911.1,