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rs61752116

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61752116(C;T)
Make rs61752116(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position10624405
GenePEX14
is asnp
is mentioned by
dbSNPrs61752116
dbSNP (classic)rs61752116
ClinGenrs61752116
ebirs61752116
HLIrs61752116
Exacrs61752116
Gnomadrs61752116
Varsomers61752116
LitVarrs61752116
Maprs61752116
PheGenIrs61752116
Biobankrs61752116
1000 genomesrs61752116
hgdprs61752116
ensemblrs61752116
geneviewrs61752116
scholarrs61752116
googlers61752116
pharmgkbrs61752116
gwascentralrs61752116
openSNPrs61752116
23andMers61752116
SNPshotrs61752116
SNPdbers61752116
MSV3drs61752116
GWAS Ctlgrs61752116
Max Magnitude0
OMIM601791
Desc
Variant0001
Relatedalso


ClinVar
Risk rs61752116(T;T)
Alt rs61752116(T;T)
Reference Rs61752116(C;C)
Significance Pathogenic
Disease Peroxisome biogenesis disorder 13A
Variation info
Gene PEX14
CLNDBN Peroxisome biogenesis disorder 13A
Reversed 0
HGVS NC_000001.10:g.10684462C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008140.3,