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rs199422203

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TCAG;TCAG) 0 common in clinvar
Make rs199422203(-;-)
Make rs199422203(-;TCAG)
ReferenceGRCh38 38.1/141
Chromosome13
Position24889371
GeneCENPJ
is asnp
is mentioned by
dbSNPrs199422203
ebirs199422203
HLIrs199422203
Exacrs199422203
Varsomers199422203
Maprs199422203
PheGenIrs199422203
hapmaprs199422203
1000 genomesrs199422203
hgdprs199422203
ensemblrs199422203
gopubmedrs199422203
geneviewrs199422203
scholarrs199422203
googlers199422203
pharmgkbrs199422203
gwascentralrs199422203
openSNPrs199422203
23andMers199422203
23andMe allrs199422203
SNP Nexus

SNPshotrs199422203
SNPdbers199422203
MSV3drs199422203
GWAS Ctlgrs199422203
Max Magnitude0
ClinVar
Risk rs199422203(;)
Alt rs199422203(;)
Reference rs199422203(TCAG;TCAG)
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.25463509_25463512delCTGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000001892.3,