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rs796065024

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CGCGCTGTGCAG;CGCGCTGTGCAG) 0 common in clinvar
Make rs796065024(-;-)
Make rs796065024(-;CGCGCTGTGCAG)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position75835418
GeneUNC13D
is asnp
is mentioned by
dbSNPrs796065024
ClinGenrs796065024
ebirs796065024
HLIrs796065024
Exacrs796065024
Varsomers796065024
Maprs796065024
PheGenIrs796065024
hapmaprs796065024
1000 genomesrs796065024
hgdprs796065024
ensemblrs796065024
gopubmedrs796065024
geneviewrs796065024
scholarrs796065024
googlers796065024
pharmgkbrs796065024
gwascentralrs796065024
openSNPrs796065024
23andMers796065024
23andMe allrs796065024
SNP Nexus

SNPshotrs796065024
SNPdbers796065024
MSV3drs796065024
GWAS Ctlgrs796065024
Max Magnitude0
ClinVar
Risk rs796065024(-;-)
Alt rs796065024(-;-)
Reference Rs796065024(CGCGCTGTGCAG;CGCGCTGTGCAG)
Significance Pathogenic
Disease Hemophagocytic lymphohistiocytosis
Variation info
Gene UNC13D
CLNDBN Hemophagocytic lymphohistiocytosis, familial, 3
Reversed 1
HGVS NC_000017.10:g.73831499_73831510delCTGCACAGCGCG
CLNSRC OMIM Allelic Variant
CLNACC RCV000002073.4,