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rs193922097

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922097(A;A)
Make rs193922097(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position153725687
GeneABCD1, BCAP31
is asnp
is mentioned by
dbSNPrs193922097
ebirs193922097
HLIrs193922097
Exacrs193922097
Varsomers193922097
Maprs193922097
PheGenIrs193922097
hapmaprs193922097
1000 genomesrs193922097
hgdprs193922097
ensemblrs193922097
gopubmedrs193922097
geneviewrs193922097
scholarrs193922097
googlers193922097
pharmgkbrs193922097
gwascentralrs193922097
openSNPrs193922097
23andMers193922097
23andMe allrs193922097
SNP Nexus

SNPshotrs193922097
SNPdbers193922097
MSV3drs193922097
GWAS Ctlgrs193922097
Max Magnitude0
ClinVar
Risk rs193922097(A;A)
Alt rs193922097(A;A)
Reference rs193922097(G;G)
Significance Pathogenic
Disease Adrenoleukodystrophy
Variation info
Gene BCAP31 ABCD1
CLNDBN Adrenoleukodystrophy
Reversed 0
HGVS NC_000023.10:g.152991142G>A
CLNSRC HGMD
CLNACC RCV000029289.4,


[PMID 7581394] Mutational analysis of patients with X-linked adrenoleukodystrophy.


[PMID 17504626] [Clinical features and genotype-phenotype studies of 89 Chinese patients with X-linked adrenoleukodystrophy].


[PMID 21068741] X-linked adrenoleukodystrophy: diagnostic and follow-up system in Japan.


[PMID 21300044] Molecular diagnosis of X-linked adrenoleukodystrophy: experience from a clinical genetic laboratory in mainland China with report of 13 novel mutations.