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rs193922098

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922098(C;T)
Make rs193922098(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position153726104
GeneABCD1, BCAP31
is asnp
is mentioned by
dbSNPrs193922098
ebirs193922098
HLIrs193922098
Exacrs193922098
Varsomers193922098
Maprs193922098
PheGenIrs193922098
hapmaprs193922098
1000 genomesrs193922098
hgdprs193922098
ensemblrs193922098
gopubmedrs193922098
geneviewrs193922098
scholarrs193922098
googlers193922098
pharmgkbrs193922098
gwascentralrs193922098
openSNPrs193922098
23andMers193922098
23andMe allrs193922098
SNP Nexus

SNPshotrs193922098
SNPdbers193922098
MSV3drs193922098
GWAS Ctlgrs193922098
Max Magnitude0
ClinVar
Risk rs193922098(A,T;A,T)
Alt rs193922098(A,T;A,T)
Reference rs193922098(C;C)
Significance Probable-Pathogenic
Disease Adrenoleukodystrophy
Variation info
Gene BCAP31 ABCD1
CLNDBN Adrenoleukodystrophy
Reversed 0
HGVS NC_000023.10:g.152991559C>T
CLNSRC ClinVar LabCorp
CLNACC RCV000029290.1,


[PMID 11748843] ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.


[PMID 15811009] X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females.