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rs386834150

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386834150(A;A)
Make rs386834150(A;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position88140954
GeneCEP290, TMTC3
is asnp
is mentioned by
dbSNPrs386834150
ebirs386834150
HLIrs386834150
Exacrs386834150
Varsomers386834150
Maprs386834150
PheGenIrs386834150
hapmaprs386834150
1000 genomesrs386834150
hgdprs386834150
ensemblrs386834150
gopubmedrs386834150
geneviewrs386834150
scholarrs386834150
googlers386834150
pharmgkbrs386834150
gwascentralrs386834150
openSNPrs386834150
23andMers386834150
23andMe allrs386834150
SNP Nexus

SNPshotrs386834150
SNPdbers386834150
MSV3drs386834150
GWAS Ctlgrs386834150
Max Magnitude0
ClinVar
Risk rs386834150(A;A)
Alt rs386834150(A;A)
Reference rs386834150(T;T)
Significance Probable-Pathogenic
Disease Meckel syndrome type 4
Variation info
Gene CEP290 TMTC3
CLNDBN Meckel syndrome type 4
Reversed 1
HGVS NC_000012.11:g.88534731A>T
CLNSRC ClinVar
CLNACC RCV000050144.1,


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