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rs1135640

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1135640(C;G)
Make rs1135640(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position75953459
GeneACOX1
is asnp
is mentioned by
dbSNPrs1135640
dbSNP (old)rs1135640
ClinGenrs1135640
ebirs1135640
HLIrs1135640
Exacrs1135640
Gnomadrs1135640
Varsomers1135640
Maprs1135640
PheGenIrs1135640
Biobankrs1135640
1000 genomesrs1135640
hgdprs1135640
ensemblrs1135640
gopubmedrs1135640
geneviewrs1135640
scholarrs1135640
googlers1135640
pharmgkbrs1135640
gwascentralrs1135640
openSNPrs1135640
23andMers1135640
23andMe allrs1135640
SNP Nexus

SNPshotrs1135640
SNPdbers1135640
MSV3drs1135640
GWAS Ctlgrs1135640
Merged fromRs1137582
GMAF0.427
Max Magnitude0
? (C;C) (C;G) (G;G) 28
GET Evidence
ACOX1-I312M
aa_change Ile312Met
aa_change_short I312M
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.504648
summary


ClinVar
Risk rs1135640(G;G)
Alt rs1135640(G;G)
Reference Rs1135640(C;C)
Significance Non-pathogenic
Disease not specified Pseudoneonatal adrenoleukodystrophy
Variation info
Gene ACOX1
CLNDBN not specified Pseudoneonatal adrenoleukodystrophy
Reversed 1
HGVS NC_000017.10:g.73949540G>C
CLNSRC
CLNACC RCV000253358.1, RCV000405630.1,