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rs713993050

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs713993050(-;-)
Make rs713993050(-;C)
Make rs713993050(C;C)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position153725519
GeneABCD1, BCAP31
is asnp
is mentioned by
dbSNPrs713993050
ebirs713993050
HLIrs713993050
Exacrs713993050
Varsomers713993050
Maprs713993050
PheGenIrs713993050
hapmaprs713993050
1000 genomesrs713993050
hgdprs713993050
ensemblrs713993050
gopubmedrs713993050
geneviewrs713993050
scholarrs713993050
googlers713993050
pharmgkbrs713993050
gwascentralrs713993050
openSNPrs713993050
23andMers713993050
23andMe allrs713993050
SNP Nexus

SNPshotrs713993050
SNPdbers713993050
MSV3drs713993050
GWAS Ctlgrs713993050
Max Magnitude0
ClinVar
Risk rs713993050(C;C)
Alt rs713993050(C;C)
Reference rs713993050(;)
Significance Pathogenic
Disease Adrenoleukodystrophy
Variation info
Gene BCAP31 ABCD1
CLNDBN Adrenoleukodystrophy
Reversed 0
HGVS NC_000023.10:g.152990974dupC
CLNSRC
CLNACC RCV000149556.1,