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rs61750415

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 3 Carrier of a peroxisome biogenesis disorder 1A (Zellweger) mutation
Make rs61750415(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position92503169
GenePEX1
is asnp
is mentioned by
dbSNPrs61750415
dbSNP (classic)rs61750415
ClinGenrs61750415
ebirs61750415
HLIrs61750415
Exacrs61750415
Gnomadrs61750415
Varsomers61750415
LitVarrs61750415
Maprs61750415
PheGenIrs61750415
Biobankrs61750415
1000 genomesrs61750415
hgdprs61750415
ensemblrs61750415
geneviewrs61750415
scholarrs61750415
googlers61750415
pharmgkbrs61750415
gwascentralrs61750415
openSNPrs61750415
23andMers61750415
SNPshotrs61750415
SNPdbers61750415
MSV3drs61750415
GWAS Ctlgrs61750415
Max Magnitude3

aka c.2097dupT (p.Ile700Tyrfs)


ClinVar
Risk rs61750415(T;T)
Alt rs61750415(T;T)
Reference Rs61750415(-;-)
Significance Pathogenic
Disease Zellweger syndrome not provided Deafness enamel hypoplasia nail defects
Variation info
Gene PEX1
CLNDBN Zellweger syndrome not provided Deafness enamel hypoplasia nail defects
Reversed 1
HGVS NC_000007.13:g.92132484dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000007953.3, RCV000078918.4, RCV000201307.1,