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rs587783410

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783410(C;T)
Make rs587783410(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position24885305
GeneCENPJ, RNF17
is asnp
is mentioned by
dbSNPrs587783410
ebirs587783410
HLIrs587783410
Exacrs587783410
Varsomers587783410
Maprs587783410
PheGenIrs587783410
hapmaprs587783410
1000 genomesrs587783410
hgdprs587783410
ensemblrs587783410
gopubmedrs587783410
geneviewrs587783410
scholarrs587783410
googlers587783410
pharmgkbrs587783410
gwascentralrs587783410
openSNPrs587783410
23andMers587783410
23andMe allrs587783410
SNP Nexus

SNPshotrs587783410
SNPdbers587783410
MSV3drs587783410
GWAS Ctlgrs587783410
Max Magnitude0
ClinVar
Risk rs587783410(T;T)
Alt rs587783410(T;T)
Reference rs587783410(C;C)
Significance Pathogenic
Disease Primary autosomal recessive microcephaly 6
Variation info
Gene CENPJ
CLNDBN Primary autosomal recessive microcephaly 6
Reversed 1
HGVS NC_000013.10:g.25459443G>A
CLNSRC
CLNACC RCV000145577.1,