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rs104886448

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886448(A;A)
Make rs104886448(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108582883
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886448
ebirs104886448
HLIrs104886448
Exacrs104886448
Varsomers104886448
Maprs104886448
PheGenIrs104886448
hapmaprs104886448
1000 genomesrs104886448
hgdprs104886448
ensemblrs104886448
gopubmedrs104886448
geneviewrs104886448
scholarrs104886448
googlers104886448
pharmgkbrs104886448
gwascentralrs104886448
openSNPrs104886448
23andMers104886448
23andMe allrs104886448
SNP Nexus

SNPshotrs104886448
SNPdbers104886448
MSV3drs104886448
GWAS Ctlgrs104886448
Max Magnitude0
ClinVar
Risk rs104886448(A;A)
Alt rs104886448(A;A)
Reference rs104886448(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107826113G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021222.1,


[PMID 15954103] Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso