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rs144282156

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs144282156(C;T)
Make rs144282156(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108686096
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs144282156
ebirs144282156
HLIrs144282156
Exacrs144282156
Varsomers144282156
Maprs144282156
PheGenIrs144282156
hapmaprs144282156
1000 genomesrs144282156
hgdprs144282156
ensemblrs144282156
gopubmedrs144282156
geneviewrs144282156
scholarrs144282156
googlers144282156
pharmgkbrs144282156
gwascentralrs144282156
openSNPrs144282156
23andMers144282156
23andMe allrs144282156
SNP Nexus

SNPshotrs144282156
SNPdbers144282156
MSV3drs144282156
GWAS Ctlgrs144282156
Max Magnitude0
ClinVar
Risk rs144282156(T;T)
Alt rs144282156(T;T)
Reference rs144282156(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107929326C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011210.4,