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rs754282058

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs754282058(A;A)
Make rs754282058(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position120415130
GeneCDK5RAP2
is asnp
is mentioned by
dbSNPrs754282058
ebirs754282058
HLIrs754282058
Exacrs754282058
Varsomers754282058
Maprs754282058
PheGenIrs754282058
hapmaprs754282058
1000 genomesrs754282058
hgdprs754282058
ensemblrs754282058
gopubmedrs754282058
geneviewrs754282058
scholarrs754282058
googlers754282058
pharmgkbrs754282058
gwascentralrs754282058
openSNPrs754282058
23andMers754282058
23andMe allrs754282058
SNP Nexus

SNPshotrs754282058
SNPdbers754282058
MSV3drs754282058
GWAS Ctlgrs754282058
Max Magnitude0
ClinVar
Risk rs754282058(A,C;A,C)
Alt rs754282058(A,C;A,C)
Reference rs754282058(G;G)
Significance Pathogenic
Disease Primary autosomal recessive microcephaly 3
Variation info
Gene CDK5RAP2
CLNDBN Primary autosomal recessive microcephaly 3
Reversed 0
HGVS NC_000009.11:g.123177408G>A
CLNSRC
CLNACC RCV000194268.1,