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rs62653604

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs62653604(C;T)
Make rs62653604(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position136826464
GenePEX7
is asnp
is mentioned by
dbSNPrs62653604
dbSNP (classic)rs62653604
ClinGenrs62653604
ebirs62653604
HLIrs62653604
Exacrs62653604
Gnomadrs62653604
Varsomers62653604
LitVarrs62653604
Maprs62653604
PheGenIrs62653604
Biobankrs62653604
1000 genomesrs62653604
hgdprs62653604
ensemblrs62653604
geneviewrs62653604
scholarrs62653604
googlers62653604
pharmgkbrs62653604
gwascentralrs62653604
openSNPrs62653604
23andMers62653604
23andMe allrs62653604
SNPshotrs62653604
SNPdbers62653604
MSV3drs62653604
GWAS Ctlgrs62653604
Max Magnitude0
ClinVar
Risk rs62653604(T;T)
Alt rs62653604(T;T)
Reference Rs62653604(C;C)
Significance Probable-Pathogenic
Disease Rhizomelic chondrodysplasia punctata type 1
Variation info
Gene PEX7
CLNDBN Rhizomelic chondrodysplasia punctata type 1
Reversed 0
HGVS NC_000006.11:g.137147602C>T
CLNSRC
CLNACC RCV000411360.1,