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rs104886332

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886332(G;T)
Make rs104886332(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108596997
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886332
ebirs104886332
HLIrs104886332
Exacrs104886332
Varsomers104886332
Maprs104886332
PheGenIrs104886332
hapmaprs104886332
1000 genomesrs104886332
hgdprs104886332
ensemblrs104886332
gopubmedrs104886332
geneviewrs104886332
scholarrs104886332
googlers104886332
pharmgkbrs104886332
gwascentralrs104886332
openSNPrs104886332
23andMers104886332
23andMe allrs104886332
SNP Nexus

SNPshotrs104886332
SNPdbers104886332
MSV3drs104886332
GWAS Ctlgrs104886332
Max Magnitude0
ClinVar
Risk rs104886332(T;T)
Alt rs104886332(T;T)
Reference rs104886332(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107840227G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021300.1,


[PMID 19065523] [A novel COL4A5 splicing mutation causing Alport syndrome in a Chinese family].

OMIM301050
Desc
Variant
Relatedalso