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rs879253737

From SNPedia

Orientationplus
Geno Mag Summary
(GTT;GTT) 0 common in clinvar
Make rs879253737(-;-)
Make rs879253737(-;GTT)
ReferenceGRCh38.p2 38.2/147
Chromosome10
Position94597089
GeneHELLS
is asnp
is mentioned by
dbSNPrs879253737
ebirs879253737
HLIrs879253737
Exacrs879253737
Varsomers879253737
Maprs879253737
PheGenIrs879253737
hapmaprs879253737
1000 genomesrs879253737
hgdprs879253737
ensemblrs879253737
gopubmedrs879253737
geneviewrs879253737
scholarrs879253737
googlers879253737
pharmgkbrs879253737
gwascentralrs879253737
openSNPrs879253737
23andMers879253737
23andMe allrs879253737
SNP Nexus

SNPshotrs879253737
SNPdbers879253737
MSV3drs879253737
GWAS Ctlgrs879253737
Max Magnitude0
ClinVar
Risk rs879253737(;)
Alt rs879253737(;)
Reference rs879253737(GTT;GTT)
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.96356846_96356848delGTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000210910.1,