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rs104886311

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104886311(G;G)
Make rs104886311(G;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108696354
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886311
ebirs104886311
HLIrs104886311
Exacrs104886311
Varsomers104886311
Maprs104886311
PheGenIrs104886311
hapmaprs104886311
1000 genomesrs104886311
hgdprs104886311
ensemblrs104886311
gopubmedrs104886311
geneviewrs104886311
scholarrs104886311
googlers104886311
pharmgkbrs104886311
gwascentralrs104886311
openSNPrs104886311
23andMers104886311
23andMe allrs104886311
SNP Nexus

SNPshotrs104886311
SNPdbers104886311
MSV3drs104886311
GWAS Ctlgrs104886311
Max Magnitude0
ClinVar
Risk rs104886311(G;G)
Alt rs104886311(G;G)
Reference rs104886311(T;T)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107939584T>G
CLNSRC ARUP COL4A5
CLNACC RCV000021671.1,


OMIM301050
Desc
Variant
Relatedalso

[PMID 10561141] Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing.