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rs104886074

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886074(G;T)
Make rs104886074(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108578079
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886074
ebirs104886074
HLIrs104886074
Exacrs104886074
Varsomers104886074
Maprs104886074
PheGenIrs104886074
hapmaprs104886074
1000 genomesrs104886074
hgdprs104886074
ensemblrs104886074
gopubmedrs104886074
geneviewrs104886074
scholarrs104886074
googlers104886074
pharmgkbrs104886074
gwascentralrs104886074
openSNPrs104886074
23andMers104886074
23andMe allrs104886074
SNP Nexus

SNPshotrs104886074
SNPdbers104886074
MSV3drs104886074
GWAS Ctlgrs104886074
Max Magnitude0
ClinVar
Risk rs104886074(T;T)
Alt rs104886074(T;T)
Reference rs104886074(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107821309G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021186.1,


[PMID 17660027] Genetic testing for X-linked Alport syndrome by direct sequencing of COL4A5 cDNA from hair root RNA samples.

OMIM301050
Desc
Variant
Relatedalso