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rs386834149

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386834149(-;-)
Make rs386834149(-;A)
ReferenceGRCh38 38.1/141
Chromosome12
Position88120185
GeneCEP290
is asnp
is mentioned by
dbSNPrs386834149
ebirs386834149
HLIrs386834149
Exacrs386834149
Varsomers386834149
Maprs386834149
PheGenIrs386834149
hapmaprs386834149
1000 genomesrs386834149
hgdprs386834149
ensemblrs386834149
gopubmedrs386834149
geneviewrs386834149
scholarrs386834149
googlers386834149
pharmgkbrs386834149
gwascentralrs386834149
openSNPrs386834149
23andMers386834149
23andMe allrs386834149
SNP Nexus

SNPshotrs386834149
SNPdbers386834149
MSV3drs386834149
GWAS Ctlgrs386834149
Max Magnitude0
ClinVar
Risk rs386834149(;)
Alt rs386834149(;)
Reference rs386834149(A;A)
Significance Pathogenic
Disease Meckel syndrome type 4 Familial aplasia of the vermis
Variation info
Gene CEP290
CLNDBN Meckel syndrome type 4 Familial aplasia of the vermis
Reversed 1
HGVS NC_000012.11:g.88513962delT
CLNSRC ClinVar
CLNACC RCV000050143.1, RCV000200294.1,


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