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rs104886325

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs104886325(-;-)
Make rs104886325(-;A)
Make rs104886325(A;A)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108591106
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886325
ebirs104886325
HLIrs104886325
Exacrs104886325
Varsomers104886325
Maprs104886325
PheGenIrs104886325
hapmaprs104886325
1000 genomesrs104886325
hgdprs104886325
ensemblrs104886325
gopubmedrs104886325
geneviewrs104886325
scholarrs104886325
googlers104886325
pharmgkbrs104886325
gwascentralrs104886325
openSNPrs104886325
23andMers104886325
23andMe allrs104886325
SNP Nexus

SNPshotrs104886325
SNPdbers104886325
MSV3drs104886325
GWAS Ctlgrs104886325
Max Magnitude0
ClinVar
Risk rs104886325(A;A)
Alt rs104886325(A;A)
Reference rs104886325(;)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107834336_107834337insA
CLNSRC ClinVar
CLNACC RCV000021260.1,


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

OMIM301050
Desc
Variant
Relatedalso