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rs397515620

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515620(C;T)
Make rs397515620(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position153720968
GeneBCAP31
is asnp
is mentioned by
dbSNPrs397515620
ebirs397515620
HLIrs397515620
Exacrs397515620
Varsomers397515620
Maprs397515620
PheGenIrs397515620
hapmaprs397515620
1000 genomesrs397515620
hgdprs397515620
ensemblrs397515620
gopubmedrs397515620
geneviewrs397515620
scholarrs397515620
googlers397515620
pharmgkbrs397515620
gwascentralrs397515620
openSNPrs397515620
23andMers397515620
23andMe allrs397515620
SNP Nexus

SNPshotrs397515620
SNPdbers397515620
MSV3drs397515620
GWAS Ctlgrs397515620
Max Magnitude0
ClinVar
Risk rs397515620(T;T)
Alt rs397515620(T;T)
Reference rs397515620(C;C)
Significance Pathogenic
Disease Chromosome Xq28 deletion syndrome
Variation info
Gene BCAP31
CLNDBN Chromosome Xq28 deletion syndrome
Reversed 1
HGVS NC_000023.10:g.152986423G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000059316.12,