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rs200879436

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs200879436(C;C)
Make rs200879436(C;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48768237
GeneCEP152
is asnp
is mentioned by
dbSNPrs200879436
ebirs200879436
HLIrs200879436
Exacrs200879436
Varsomers200879436
Maprs200879436
PheGenIrs200879436
hapmaprs200879436
1000 genomesrs200879436
hgdprs200879436
ensemblrs200879436
gopubmedrs200879436
geneviewrs200879436
scholarrs200879436
googlers200879436
pharmgkbrs200879436
gwascentralrs200879436
openSNPrs200879436
23andMers200879436
23andMe allrs200879436
SNP Nexus

SNPshotrs200879436
SNPdbers200879436
MSV3drs200879436
GWAS Ctlgrs200879436
GMAF0.002755
Max Magnitude0
ClinVar
Risk rs200879436(C;C)
Alt rs200879436(C;C)
Reference rs200879436(T;T)
Significance Pathogenic
Disease Seckel syndrome 5 not specified
Variation info
Gene CEP152
CLNDBN Seckel syndrome 5 not specified
Reversed 0
HGVS NC_000015.9:g.49060434T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000024028.3, RCV000145604.2,