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rs386833755

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833755(C;C)
Make rs386833755(C;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position15570446
GeneCC2D2A
is asnp
is mentioned by
dbSNPrs386833755
ebirs386833755
HLIrs386833755
Exacrs386833755
Varsomers386833755
Maprs386833755
PheGenIrs386833755
hapmaprs386833755
1000 genomesrs386833755
hgdprs386833755
ensemblrs386833755
gopubmedrs386833755
geneviewrs386833755
scholarrs386833755
googlers386833755
pharmgkbrs386833755
gwascentralrs386833755
openSNPrs386833755
23andMers386833755
23andMe allrs386833755
SNP Nexus

SNPshotrs386833755
SNPdbers386833755
MSV3drs386833755
GWAS Ctlgrs386833755
Max Magnitude0
ClinVar
Risk rs386833755(C;C)
Alt rs386833755(C;C)
Reference rs386833755(T;T)
Significance Probable-Pathogenic
Disease Meckel syndrome type 6
Variation info
Gene CC2D2A
CLNDBN Meckel syndrome type 6
Reversed 0
HGVS NC_000004.11:g.15572069T>C
CLNSRC ClinVar
CLNACC RCV000049719.1,


[PMID 21068128OA-icon.png] Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.