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rs786200884

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AGATTGT;AGATTGT) 0 common in clinvar
Make rs786200884(-;-)
Make rs786200884(-;TTGTAGA)
Make rs786200884(TTGTAGA;TTGTAGA)
ReferenceGRCh38.p2 38.2/146
Chromosome10
Position14909135
GeneDCLRE1C
is asnp
is mentioned by
dbSNPrs786200884
dbSNP (classic)rs786200884
ClinGenrs786200884
ebirs786200884
HLIrs786200884
Exacrs786200884
Gnomadrs786200884
Varsomers786200884
LitVarrs786200884
Maprs786200884
PheGenIrs786200884
Biobankrs786200884
1000 genomesrs786200884
hgdprs786200884
ensemblrs786200884
geneviewrs786200884
scholarrs786200884
googlers786200884
pharmgkbrs786200884
gwascentralrs786200884
openSNPrs786200884
23andMers786200884
SNPshotrs786200884
SNPdbers786200884
MSV3drs786200884
GWAS Ctlgrs786200884
Max Magnitude0
ClinVar
Risk rs786200884(-;-)
Alt rs786200884(-;-)
Reference Rs786200884(AGATTGT;AGATTGT)
Significance Pathogenic
Disease Severe combined immunodeficiency
Variation info
Gene DCLRE1C
CLNDBN Severe combined immunodeficiency, partial
Reversed 1
HGVS NC_000010.10:g.14951134_14951140delTCTACAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000004939.5,