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rs104886305

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886305(A;A)
Make rs104886305(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108695439
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886305
ebirs104886305
HLIrs104886305
Exacrs104886305
Varsomers104886305
Maprs104886305
PheGenIrs104886305
hapmaprs104886305
1000 genomesrs104886305
hgdprs104886305
ensemblrs104886305
gopubmedrs104886305
geneviewrs104886305
scholarrs104886305
googlers104886305
pharmgkbrs104886305
gwascentralrs104886305
openSNPrs104886305
23andMers104886305
23andMe allrs104886305
SNP Nexus

SNPshotrs104886305
SNPdbers104886305
MSV3drs104886305
GWAS Ctlgrs104886305
Max Magnitude0
ClinVar
Risk rs104886305(A;A)
Alt rs104886305(A;A)
Reference rs104886305(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107938669G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021662.1,


[PMID 8940267OA-icon.png] Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso