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rs879255522

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs879255522(A;A)
Make rs879255522(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position119822819
GeneCIT
is asnp
is mentioned by
dbSNPrs879255522
ebirs879255522
HLIrs879255522
Exacrs879255522
Varsomers879255522
Maprs879255522
PheGenIrs879255522
hapmaprs879255522
1000 genomesrs879255522
hgdprs879255522
ensemblrs879255522
gopubmedrs879255522
geneviewrs879255522
scholarrs879255522
googlers879255522
pharmgkbrs879255522
gwascentralrs879255522
openSNPrs879255522
23andMers879255522
23andMe allrs879255522
SNP Nexus

SNPshotrs879255522
SNPdbers879255522
MSV3drs879255522
GWAS Ctlgrs879255522
Max Magnitude0
ClinVar
Risk rs879255522(A;A)
Alt rs879255522(A;A)
Reference rs879255522(G;G)
Significance Pathogenic
Disease Primary autosomal recessive microcephaly
Variation info
Gene CIT
CLNDBN Primary autosomal recessive microcephaly
Reversed 1
HGVS NC_000012.11:g.120260623C>T
CLNSRC
CLNACC RCV000239414.1,