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rs763514968

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs763514968(C;T)
Make rs763514968(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position136826407
GenePEX7
is asnp
is mentioned by
dbSNPrs763514968
dbSNP (classic)rs763514968
ClinGenrs763514968
ebirs763514968
HLIrs763514968
Exacrs763514968
Gnomadrs763514968
Varsomers763514968
LitVarrs763514968
Maprs763514968
PheGenIrs763514968
Biobankrs763514968
1000 genomesrs763514968
hgdprs763514968
ensemblrs763514968
geneviewrs763514968
scholarrs763514968
googlers763514968
pharmgkbrs763514968
gwascentralrs763514968
openSNPrs763514968
23andMers763514968
23andMe allrs763514968
SNPshotrs763514968
SNPdbers763514968
MSV3drs763514968
GWAS Ctlgrs763514968
Max Magnitude0
ClinVar
Risk rs763514968(T;T)
Alt rs763514968(T;T)
Reference Rs763514968(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.137147545C>T
CLNSRC
CLNACC RCV000409536.1,