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rs368720062

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs368720062(C;C)
Make rs368720062(C;T)
ReferenceGRCh38 38.1/142
Chromosome4
Position15596154
GeneCC2D2A
is asnp
is mentioned by
dbSNPrs368720062
ebirs368720062
HLIrs368720062
Exacrs368720062
Varsomers368720062
Maprs368720062
PheGenIrs368720062
hapmaprs368720062
1000 genomesrs368720062
hgdprs368720062
ensemblrs368720062
gopubmedrs368720062
geneviewrs368720062
scholarrs368720062
googlers368720062
pharmgkbrs368720062
gwascentralrs368720062
openSNPrs368720062
23andMers368720062
23andMe allrs368720062
SNP Nexus

SNPshotrs368720062
SNPdbers368720062
MSV3drs368720062
GWAS Ctlgrs368720062
Max Magnitude0
ClinVar
Risk rs368720062(C;C)
Alt rs368720062(C;C)
Reference rs368720062(T;T)
Significance Probable-Pathogenic
Disease Meckel-Gruber syndrome
Variation info
Gene CC2D2A
CLNDBN Meckel-Gruber syndrome
Reversed 0
HGVS NC_000004.11:g.15597777T>C
CLNSRC ClinVar
CLNACC RCV000114180.1,