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rs1057517501

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517501(A;T)
Make rs1057517501(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position92528435
GenePEX1, RBM48
is asnp
is mentioned by
dbSNPrs1057517501
dbSNP (old)rs1057517501
ClinGenrs1057517501
ebirs1057517501
HLIrs1057517501
Exacrs1057517501
Gnomadrs1057517501
Varsomers1057517501
LitVarrs1057517501
Maprs1057517501
PheGenIrs1057517501
Biobankrs1057517501
1000 genomesrs1057517501
hgdprs1057517501
ensemblrs1057517501
gopubmedrs1057517501
geneviewrs1057517501
scholarrs1057517501
googlers1057517501
pharmgkbrs1057517501
gwascentralrs1057517501
openSNPrs1057517501
23andMers1057517501
23andMe allrs1057517501
SNPshotrs1057517501
SNPdbers1057517501
MSV3drs1057517501
GWAS Ctlgrs1057517501
Max Magnitude0
ClinVar
Risk rs1057517501(T;T)
Alt rs1057517501(T;T)
Reference Rs1057517501(A;A)
Significance Probable-Pathogenic
Disease Peroxisome biogenesis disorder 1B Zellweger syndrome
Variation info
Gene PEX1 RBM48
CLNDBN Peroxisome biogenesis disorder 1B Zellweger syndrome
Reversed 1
HGVS NC_000007.13:g.92157749T>A
CLNSRC
CLNACC RCV000409502.1, RCV000411873.1,