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rs879253734

From SNPedia

Orientationplus
Geno Mag Summary
(TCTG;TCTG) 0 common in clinvar
Make rs879253734(-;-)
Make rs879253734(-;GTCT)
Make rs879253734(GTCT;GTCT)
ReferenceGRCh38.p2 38.2/147
Chromosome10
Position94596894
GeneHELLS
is asnp
is mentioned by
dbSNPrs879253734
ebirs879253734
HLIrs879253734
Exacrs879253734
Varsomers879253734
Maprs879253734
PheGenIrs879253734
hapmaprs879253734
1000 genomesrs879253734
hgdprs879253734
ensemblrs879253734
gopubmedrs879253734
geneviewrs879253734
scholarrs879253734
googlers879253734
pharmgkbrs879253734
gwascentralrs879253734
openSNPrs879253734
23andMers879253734
23andMe allrs879253734
SNP Nexus

SNPshotrs879253734
SNPdbers879253734
MSV3drs879253734
GWAS Ctlgrs879253734
Max Magnitude0
ClinVar
Risk rs879253734(;)
Alt rs879253734(;)
Reference rs879253734(TCTG;TCTG)
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.96356651_96356654delGTCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000210919.1,