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rs587783392

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783392(C;T)
Make rs587783392(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position120402886
GeneCDK5RAP2
is asnp
is mentioned by
dbSNPrs587783392
ebirs587783392
HLIrs587783392
Exacrs587783392
Varsomers587783392
Maprs587783392
PheGenIrs587783392
hapmaprs587783392
1000 genomesrs587783392
hgdprs587783392
ensemblrs587783392
gopubmedrs587783392
geneviewrs587783392
scholarrs587783392
googlers587783392
pharmgkbrs587783392
gwascentralrs587783392
openSNPrs587783392
23andMers587783392
23andMe allrs587783392
SNP Nexus

SNPshotrs587783392
SNPdbers587783392
MSV3drs587783392
GWAS Ctlgrs587783392
Max Magnitude0
ClinVar
Risk rs587783392(T;T)
Alt rs587783392(T;T)
Reference rs587783392(C;C)
Significance Pathogenic
Disease Primary autosomal recessive microcephaly 3
Variation info
Gene CDK5RAP2
CLNDBN Primary autosomal recessive microcephaly 3
Reversed 1
HGVS NC_000009.11:g.123165164G>A
CLNSRC
CLNACC RCV000145493.1,