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rs148591292

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome6
Position136898242
GenePEX7
is asnp
is mentioned by
dbSNPrs148591292
ebirs148591292
HLIrs148591292
Exacrs148591292
Varsomers148591292
Maprs148591292
PheGenIrs148591292
hapmaprs148591292
1000 genomesrs148591292
hgdprs148591292
ensemblrs148591292
gopubmedrs148591292
geneviewrs148591292
scholarrs148591292
googlers148591292
pharmgkbrs148591292
gwascentralrs148591292
openSNPrs148591292
23andMers148591292
23andMe allrs148591292
SNP Nexus

SNPshotrs148591292
SNPdbers148591292
MSV3drs148591292
GWAS Ctlgrs148591292
Max Magnitude0

PEX7 IVS9, G-C, +1

Rhizomelic chondrodysplasia punctata type 1

This SNP is called i5006214 and i6055954 by 23andMe.


ClinVar
Risk rs148591292(C;C)
Alt rs148591292(C;C)
Reference rs148591292(G;G)
Significance Pathogenic
Disease Rhizomelic chondrodysplasia punctata type 1
Variation info
Gene PEX7
CLNDBN Rhizomelic chondrodysplasia punctata type 1
Reversed 0
HGVS NC_000006.11:g.137219380G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008227.6,