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rs104886169

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886169(G;T)
Make rs104886169(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108601941
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886169
ebirs104886169
HLIrs104886169
Exacrs104886169
Varsomers104886169
Maprs104886169
PheGenIrs104886169
hapmaprs104886169
1000 genomesrs104886169
hgdprs104886169
ensemblrs104886169
gopubmedrs104886169
geneviewrs104886169
scholarrs104886169
googlers104886169
pharmgkbrs104886169
gwascentralrs104886169
openSNPrs104886169
23andMers104886169
23andMe allrs104886169
SNP Nexus

SNPshotrs104886169
SNPdbers104886169
MSV3drs104886169
GWAS Ctlgrs104886169
Max Magnitude0
ClinVar
Risk rs104886169(T;T)
Alt rs104886169(T;T)
Reference rs104886169(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107845171G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021364.1,


[PMID 18616531] MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso