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rs61750420

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 5 peroxisomal biogenesis disorder (Zellweger) allele
(A;G) 3 carrier of peroxisomal biogenesis disorder (Zellweger) allele
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome7
Position92501562
GenePEX1
is asnp
is mentioned by
dbSNPrs61750420
ebirs61750420
HLIrs61750420
Exacrs61750420
Varsomers61750420
Maprs61750420
PheGenIrs61750420
hapmaprs61750420
1000 genomesrs61750420
hgdprs61750420
ensemblrs61750420
gopubmedrs61750420
geneviewrs61750420
scholarrs61750420
googlers61750420
pharmgkbrs61750420
gwascentralrs61750420
openSNPrs61750420
23andMers61750420
23andMe allrs61750420
SNP Nexus

SNPshotrs61750420
SNPdbers61750420
MSV3drs61750420
GWAS Ctlgrs61750420
Max Magnitude5

rs61750420, also known as G843D or Gly843Asp, is a SNP in the peroxisomal biogenesis factor 1 PEX1 gene.

The risk allele for this SNP, rs61750420(A), is perhaps the most common PEX1 mutation in those of European ancestry, and it is linked to peroxisome biogenesis disorders such as NALD, IRD, and Zellweger syndrome, including peroxisome biogenesis disorders of complementation group 1. Note that the equivalent SNP for 23andMe, i5012688, is on the opposite strand of rs61750420 and so the risk allele for i5012688 is (T).

OMIM602136
Desc
Variant0001
Relatedalso


ClinVar
Risk rs61750420(A;A)
Alt rs61750420(A;A)
Reference rs61750420(G;G)
Significance Pathogenic
Disease Peroxisome biogenesis disorders Leber's amaurosis Zellweger syndrome not provided
Variation info
Gene PEX1
CLNDBN Peroxisome biogenesis disorders, Zellweger syndrome spectrum Leber's amaurosis Zellweger syndrome not provided
Reversed 1
HGVS NC_000007.13:g.92130876C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000007946.5, RCV000022416.1, RCV000032927.6, RCV000078922.5,