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rs143149764

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs143149764(A;G)
Make rs143149764(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position19347782
GeneB9D1
is asnp
is mentioned by
dbSNPrs143149764
ebirs143149764
HLIrs143149764
Exacrs143149764
Varsomers143149764
Maprs143149764
PheGenIrs143149764
hapmaprs143149764
1000 genomesrs143149764
hgdprs143149764
ensemblrs143149764
gopubmedrs143149764
geneviewrs143149764
scholarrs143149764
googlers143149764
pharmgkbrs143149764
gwascentralrs143149764
openSNPrs143149764
23andMers143149764
23andMe allrs143149764
SNP Nexus

SNPshotrs143149764
SNPdbers143149764
MSV3drs143149764
GWAS Ctlgrs143149764
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs143149764(G;G)
Alt rs143149764(G;G)
Reference rs143149764(A;A)
Significance Pathogenic
Disease Meckel syndrome not provided
Variation info
Gene B9D1
CLNDBN Meckel syndrome, type 9 not provided
Reversed 0
HGVS NC_000017.10:g.19251095A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000024098.4, RCV000049798.1,


[PMID 21493627OA-icon.png] B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.