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rs140316223

From SNPedia

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Geno Mag Summary
(T;T) 0 common in clinvar
Make rs140316223(A;A)
Make rs140316223(A;T)
ReferenceGRCh38.p2 38.2/147
Chromosome10
Position94562729
GeneHELLS
is asnp
is mentioned by
dbSNPrs140316223
ebirs140316223
HLIrs140316223
Exacrs140316223
Varsomers140316223
Maprs140316223
PheGenIrs140316223
hapmaprs140316223
1000 genomesrs140316223
hgdprs140316223
ensemblrs140316223
gopubmedrs140316223
geneviewrs140316223
scholarrs140316223
googlers140316223
pharmgkbrs140316223
gwascentralrs140316223
openSNPrs140316223
23andMers140316223
23andMe allrs140316223
SNP Nexus

SNPshotrs140316223
SNPdbers140316223
MSV3drs140316223
GWAS Ctlgrs140316223
Max Magnitude0
ClinVar
Risk rs140316223(A;A)
Alt rs140316223(A;A)
Reference rs140316223(T;T)
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.96322486T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000210918.1,