Have questions? Visit https://www.reddit.com/r/SNPedia

rs879255523

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs879255523(C;T)
Make rs879255523(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position119857525
GeneCIT
is asnp
is mentioned by
dbSNPrs879255523
ebirs879255523
HLIrs879255523
Exacrs879255523
Varsomers879255523
Maprs879255523
PheGenIrs879255523
hapmaprs879255523
1000 genomesrs879255523
hgdprs879255523
ensemblrs879255523
gopubmedrs879255523
geneviewrs879255523
scholarrs879255523
googlers879255523
pharmgkbrs879255523
gwascentralrs879255523
openSNPrs879255523
23andMers879255523
23andMe allrs879255523
SNP Nexus

SNPshotrs879255523
SNPdbers879255523
MSV3drs879255523
GWAS Ctlgrs879255523
Max Magnitude0
ClinVar
Risk rs879255523(T;T)
Alt rs879255523(T;T)
Reference rs879255523(C;C)
Significance Pathogenic
Disease Primary autosomal recessive microcephaly
Variation info
Gene CIT
CLNDBN Primary autosomal recessive microcephaly
Reversed 1
HGVS NC_000012.11:g.120295329G>A
CLNSRC
CLNACC RCV000239424.1,