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rs386833758

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833758(A;A)
Make rs386833758(A;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position15580089
GeneCC2D2A
is asnp
is mentioned by
dbSNPrs386833758
ebirs386833758
HLIrs386833758
Exacrs386833758
Varsomers386833758
Maprs386833758
PheGenIrs386833758
hapmaprs386833758
1000 genomesrs386833758
hgdprs386833758
ensemblrs386833758
gopubmedrs386833758
geneviewrs386833758
scholarrs386833758
googlers386833758
pharmgkbrs386833758
gwascentralrs386833758
openSNPrs386833758
23andMers386833758
23andMe allrs386833758
SNP Nexus

SNPshotrs386833758
SNPdbers386833758
MSV3drs386833758
GWAS Ctlgrs386833758
Max Magnitude0
ClinVar
Risk rs386833758(A;A)
Alt rs386833758(A;A)
Reference rs386833758(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.15581712T>A
CLNSRC ClinVar
CLNACC RCV000049722.1,


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