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rs104886127

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886127(G;T)
Make rs104886127(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108597423
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886127
ebirs104886127
HLIrs104886127
Exacrs104886127
Varsomers104886127
Maprs104886127
PheGenIrs104886127
hapmaprs104886127
1000 genomesrs104886127
hgdprs104886127
ensemblrs104886127
gopubmedrs104886127
geneviewrs104886127
scholarrs104886127
googlers104886127
pharmgkbrs104886127
gwascentralrs104886127
openSNPrs104886127
23andMers104886127
23andMe allrs104886127
SNP Nexus

SNPshotrs104886127
SNPdbers104886127
MSV3drs104886127
GWAS Ctlgrs104886127
Max Magnitude0
ClinVar
Risk rs104886127(T;T)
Alt rs104886127(T;T)
Reference rs104886127(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107840653G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021310.1,


[PMID 10094548] Detection of mutations in COL4A5 in patients with Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso