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rs386834156

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs386834156(AG;T)
Make rs386834156(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position88136702
GeneCEP290
is asnp
is mentioned by
dbSNPrs386834156
ebirs386834156
HLIrs386834156
Exacrs386834156
Varsomers386834156
Maprs386834156
PheGenIrs386834156
hapmaprs386834156
1000 genomesrs386834156
hgdprs386834156
ensemblrs386834156
gopubmedrs386834156
geneviewrs386834156
scholarrs386834156
googlers386834156
pharmgkbrs386834156
gwascentralrs386834156
openSNPrs386834156
23andMers386834156
23andMe allrs386834156
SNP Nexus

SNPshotrs386834156
SNPdbers386834156
MSV3drs386834156
GWAS Ctlgrs386834156
Max Magnitude0
ClinVar
Risk rs386834156(T;T)
Alt rs386834156(T;T)
Reference rs386834156(AG;AG)
Significance Probable-Pathogenic
Disease Meckel syndrome type 4
Variation info
Gene CEP290
CLNDBN Meckel syndrome type 4
Reversed 1
HGVS NC_000012.11:g.88530479_88530480delCTinsA
CLNSRC ClinVar
CLNACC RCV000050150.1,


[PMID 17564974OA-icon.png] Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.