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rs879253736

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs879253736(-;-)
Make rs879253736(-;TGAGGAAA)
Make rs879253736(TGAGGAAA;TGAGGAAA)
ReferenceGRCh38.p2 38.2/147
Chromosome10
Position94562822
GeneHELLS
is asnp
is mentioned by
dbSNPrs879253736
ebirs879253736
HLIrs879253736
Exacrs879253736
Varsomers879253736
Maprs879253736
PheGenIrs879253736
hapmaprs879253736
1000 genomesrs879253736
hgdprs879253736
ensemblrs879253736
gopubmedrs879253736
geneviewrs879253736
scholarrs879253736
googlers879253736
pharmgkbrs879253736
gwascentralrs879253736
openSNPrs879253736
23andMers879253736
23andMe allrs879253736
SNP Nexus

SNPshotrs879253736
SNPdbers879253736
MSV3drs879253736
GWAS Ctlgrs879253736
Max Magnitude0
ClinVar
Risk rs879253736(ATGAGGAA;ATGAGGAA)
Alt rs879253736(ATGAGGAA;ATGAGGAA)
Reference rs879253736(;)
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.96322572_96322579dupTGAGGAAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000210917.1,