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rs104886245

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886245(G;T)
Make rs104886245(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108668327
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886245
ebirs104886245
HLIrs104886245
Exacrs104886245
Varsomers104886245
Maprs104886245
PheGenIrs104886245
hapmaprs104886245
1000 genomesrs104886245
hgdprs104886245
ensemblrs104886245
gopubmedrs104886245
geneviewrs104886245
scholarrs104886245
googlers104886245
pharmgkbrs104886245
gwascentralrs104886245
openSNPrs104886245
23andMers104886245
23andMe allrs104886245
SNP Nexus

SNPshotrs104886245
SNPdbers104886245
MSV3drs104886245
GWAS Ctlgrs104886245
Max Magnitude0
ClinVar
Risk rs104886245(A,T;A,T)
Alt rs104886245(A,T;A,T)
Reference rs104886245(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107911557G>A; NC_000023.10:g.107911557G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021538.1, RCV000021537.1,


OMIM301050
Desc
Variant
Relatedalso
[PMID 8940267OA-icon.png] Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.


[PMID 20378821OA-icon.png] Genotype-phenotype correlation in X-linked Alport syndrome.