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rs1085307120

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Chromosome4
Position55974970
GeneCEP135
is asnp
is mentioned by
dbSNPrs1085307120
dbSNP (old)rs1085307120
ClinGenrs1085307120
ebirs1085307120
HLIrs1085307120
Exacrs1085307120
Gnomadrs1085307120
Varsomers1085307120
Maprs1085307120
PheGenIrs1085307120
Biobankrs1085307120
1000 genomesrs1085307120
hgdprs1085307120
ensemblrs1085307120
gopubmedrs1085307120
geneviewrs1085307120
scholarrs1085307120
googlers1085307120
pharmgkbrs1085307120
gwascentralrs1085307120
openSNPrs1085307120
23andMers1085307120
23andMe allrs1085307120
SNPshotrs1085307120
SNPdbers1085307120
MSV3drs1085307120
GWAS Ctlgrs1085307120
Max Magnitude0
ClinVar
Risk rs1085307120(A;A)
Alt rs1085307120(A;A)
Reference Rs1085307120(G;G)
Significance Pathogenic
Disease Primary autosomal recessive microcephaly 8
Variation info
Gene CEP135
CLNDBN Primary autosomal recessive microcephaly 8
Reversed 0
HGVS NC_000004.11:g.56841136G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000477712.1,