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rs724160001

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs724160001(A;A)
Make rs724160001(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position2405815
GeneRER1, PEX10
is asnp
is mentioned by
dbSNPrs724160001
dbSNP (classic)rs724160001
ClinGenrs724160001
ebirs724160001
HLIrs724160001
Exacrs724160001
Gnomadrs724160001
Varsomers724160001
LitVarrs724160001
Maprs724160001
PheGenIrs724160001
Biobankrs724160001
1000 genomesrs724160001
hgdprs724160001
ensemblrs724160001
geneviewrs724160001
scholarrs724160001
googlers724160001
pharmgkbrs724160001
gwascentralrs724160001
openSNPrs724160001
23andMers724160001
SNPshotrs724160001
SNPdbers724160001
MSV3drs724160001
GWAS Ctlgrs724160001
Max Magnitude0
ClinVar
Risk rs724160001(A;A) rs724160001(T;T)
Alt rs724160001(A;A) rs724160001(T;T)
Reference Rs724160001(G;G)
Significance Pathogenic
Disease Peroxisome biogenesis disorder 6B
Variation info
Gene RER1 PEX10
CLNDBN Peroxisome biogenesis disorder 6B
Reversed 1
HGVS NC_000001.10:g.2337254C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000149811.4,