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rs879255524

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs879255524(C;G)
Make rs879255524(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position119850217
GeneCIT
is asnp
is mentioned by
dbSNPrs879255524
ebirs879255524
HLIrs879255524
Exacrs879255524
Varsomers879255524
Maprs879255524
PheGenIrs879255524
hapmaprs879255524
1000 genomesrs879255524
hgdprs879255524
ensemblrs879255524
gopubmedrs879255524
geneviewrs879255524
scholarrs879255524
googlers879255524
pharmgkbrs879255524
gwascentralrs879255524
openSNPrs879255524
23andMers879255524
23andMe allrs879255524
SNP Nexus

SNPshotrs879255524
SNPdbers879255524
MSV3drs879255524
GWAS Ctlgrs879255524
Max Magnitude0
ClinVar
Risk rs879255524(G;G)
Alt rs879255524(G;G)
Reference rs879255524(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.120288021G>C
CLNSRC
CLNACC RCV000239406.1,