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rs879253817

From SNPedia

Orientationminus
Geno Mag Summary
(ATCCTTTGGA;ATCCTTTGGA) 0 common in clinvar
Make rs879253817(-;-)
Make rs879253817(-;ATCCTTTGGA)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position119876131
GeneCIT
is asnp
is mentioned by
dbSNPrs879253817
ebirs879253817
HLIrs879253817
Exacrs879253817
Varsomers879253817
Maprs879253817
PheGenIrs879253817
hapmaprs879253817
1000 genomesrs879253817
hgdprs879253817
ensemblrs879253817
gopubmedrs879253817
geneviewrs879253817
scholarrs879253817
googlers879253817
pharmgkbrs879253817
gwascentralrs879253817
openSNPrs879253817
23andMers879253817
23andMe allrs879253817
SNP Nexus

SNPshotrs879253817
SNPdbers879253817
MSV3drs879253817
GWAS Ctlgrs879253817
Max Magnitude0
ClinVar
Risk rs879253817(;)
Alt rs879253817(;)
Reference rs879253817(ATCCTTTGGA;ATCCTTTGGA)
Significance Pathogenic
Disease Primary autosomal recessive microcephaly
Variation info
Gene CIT
CLNDBN Primary autosomal recessive microcephaly
Reversed 1
HGVS NC_000012.11:g.120313935_120313944delTCCAAAGGAT
CLNSRC
CLNACC RCV000234954.1,