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rs386833757

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386833757(-;-)
Make rs386833757(-;T)
Make rs386833757(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position15579970
GeneCC2D2A
is asnp
is mentioned by
dbSNPrs386833757
ebirs386833757
HLIrs386833757
Exacrs386833757
Varsomers386833757
Maprs386833757
PheGenIrs386833757
hapmaprs386833757
1000 genomesrs386833757
hgdprs386833757
ensemblrs386833757
gopubmedrs386833757
geneviewrs386833757
scholarrs386833757
googlers386833757
pharmgkbrs386833757
gwascentralrs386833757
openSNPrs386833757
23andMers386833757
23andMe allrs386833757
SNP Nexus

SNPshotrs386833757
SNPdbers386833757
MSV3drs386833757
GWAS Ctlgrs386833757
Max Magnitude0
ClinVar
Risk rs386833757(T;T)
Alt rs386833757(T;T)
Reference rs386833757(;)
Significance Pathogenic
Disease Meckel syndrome type 6 Joubert syndrome 9
Variation info
Gene CC2D2A
CLNDBN Meckel syndrome type 6 Joubert syndrome 9
Reversed 0
HGVS NC_000004.11:g.15581593dupT
CLNSRC ClinVar
CLNACC RCV000049721.1, RCV000201709.1,


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