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rs386834157

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TAGA;TAGA) 0 common in clinvar
Make rs386834157(-;-)
Make rs386834157(-;TAGA)
ReferenceGRCh38 38.1/141
Chromosome12
Position88136697
GeneCEP290
is asnp
is mentioned by
dbSNPrs386834157
ebirs386834157
HLIrs386834157
Exacrs386834157
Varsomers386834157
Maprs386834157
PheGenIrs386834157
hapmaprs386834157
1000 genomesrs386834157
hgdprs386834157
ensemblrs386834157
gopubmedrs386834157
geneviewrs386834157
scholarrs386834157
googlers386834157
pharmgkbrs386834157
gwascentralrs386834157
openSNPrs386834157
23andMers386834157
23andMe allrs386834157
SNP Nexus

SNPshotrs386834157
SNPdbers386834157
MSV3drs386834157
GWAS Ctlgrs386834157
Max Magnitude0
ClinVar
Risk rs386834157(;)
Alt rs386834157(;)
Reference rs386834157(TAGA;TAGA)
Significance Probable-Pathogenic
Disease Meckel syndrome type 4
Variation info
Gene CEP290
CLNDBN Meckel syndrome type 4
Reversed 1
HGVS NC_000012.11:g.88530474_88530477delTCTA
CLNSRC ClinVar
CLNACC RCV000050151.1,


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