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rs1057517518

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517518(A;A)
Make rs1057517518(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position92491503
GeneGATAD1, PEX1
is asnp
is mentioned by
dbSNPrs1057517518
dbSNP (old)rs1057517518
ClinGenrs1057517518
ebirs1057517518
HLIrs1057517518
Exacrs1057517518
Gnomadrs1057517518
Varsomers1057517518
LitVarrs1057517518
Maprs1057517518
PheGenIrs1057517518
Biobankrs1057517518
1000 genomesrs1057517518
hgdprs1057517518
ensemblrs1057517518
gopubmedrs1057517518
geneviewrs1057517518
scholarrs1057517518
googlers1057517518
pharmgkbrs1057517518
gwascentralrs1057517518
openSNPrs1057517518
23andMers1057517518
23andMe allrs1057517518
SNPshotrs1057517518
SNPdbers1057517518
MSV3drs1057517518
GWAS Ctlgrs1057517518
Max Magnitude0
ClinVar
Risk rs1057517518(A;A)
Alt rs1057517518(A;A)
Reference Rs1057517518(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.92120817C>T
CLNSRC
CLNACC RCV000409017.1, RCV000411432.1,