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rs104886315

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886315(G;T)
Make rs104886315(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108584530
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886315
dbSNP (old)rs104886315
ClinGenrs104886315
ebirs104886315
HLIrs104886315
Exacrs104886315
Gnomadrs104886315
Varsomers104886315
Maprs104886315
PheGenIrs104886315
Biobankrs104886315
1000 genomesrs104886315
hgdprs104886315
ensemblrs104886315
gopubmedrs104886315
geneviewrs104886315
scholarrs104886315
googlers104886315
pharmgkbrs104886315
gwascentralrs104886315
openSNPrs104886315
23andMers104886315
23andMe allrs104886315
SNP Nexus

SNPshotrs104886315
SNPdbers104886315
MSV3drs104886315
GWAS Ctlgrs104886315
Max Magnitude0
ClinVar
Risk rs104886315(T;T)
Alt rs104886315(T;T)
Reference Rs104886315(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107827760G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021236.1,


[PMID 17396119] Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria.

OMIM301050
Desc
Variant
Relatedalso