Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057517480

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517480(G;T)
Make rs1057517480(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position92489803
GeneGATAD1, PEX1
is asnp
is mentioned by
dbSNPrs1057517480
dbSNP (old)rs1057517480
ClinGenrs1057517480
ebirs1057517480
HLIrs1057517480
Exacrs1057517480
Gnomadrs1057517480
Varsomers1057517480
Maprs1057517480
PheGenIrs1057517480
Biobankrs1057517480
1000 genomesrs1057517480
hgdprs1057517480
ensemblrs1057517480
gopubmedrs1057517480
geneviewrs1057517480
scholarrs1057517480
googlers1057517480
pharmgkbrs1057517480
gwascentralrs1057517480
openSNPrs1057517480
23andMers1057517480
23andMe allrs1057517480
SNPshotrs1057517480
SNPdbers1057517480
MSV3drs1057517480
GWAS Ctlgrs1057517480
Max Magnitude0
ClinVar
Risk rs1057517480(T;T)
Alt rs1057517480(T;T)
Reference Rs1057517480(G;G)
Significance Probable-Pathogenic
Disease Peroxisome biogenesis disorder 1B Zellweger syndrome
Variation info
Gene PEX1
CLNDBN Peroxisome biogenesis disorder 1B Zellweger syndrome
Reversed 1
HGVS NC_000007.13:g.92119117C>A
CLNSRC
CLNACC RCV000409825.1, RCV000411784.1,