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rs104886384

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886384(A;A)
Make rs104886384(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108668318
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886384
ebirs104886384
HLIrs104886384
Exacrs104886384
Varsomers104886384
Maprs104886384
PheGenIrs104886384
hapmaprs104886384
1000 genomesrs104886384
hgdprs104886384
ensemblrs104886384
gopubmedrs104886384
geneviewrs104886384
scholarrs104886384
googlers104886384
pharmgkbrs104886384
gwascentralrs104886384
openSNPrs104886384
23andMers104886384
23andMe allrs104886384
SNP Nexus

SNPshotrs104886384
SNPdbers104886384
MSV3drs104886384
GWAS Ctlgrs104886384
Max Magnitude0
ClinVar
Risk rs104886384(A;A)
Alt rs104886384(A;A)
Reference rs104886384(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107911548G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021535.1,


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

OMIM301050
Desc
Variant
Relatedalso