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rs104886247

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886247(A;A)
Make rs104886247(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108668346
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886247
ebirs104886247
HLIrs104886247
Exacrs104886247
Varsomers104886247
Maprs104886247
PheGenIrs104886247
hapmaprs104886247
1000 genomesrs104886247
hgdprs104886247
ensemblrs104886247
gopubmedrs104886247
geneviewrs104886247
scholarrs104886247
googlers104886247
pharmgkbrs104886247
gwascentralrs104886247
openSNPrs104886247
23andMers104886247
23andMe allrs104886247
SNP Nexus

SNPshotrs104886247
SNPdbers104886247
MSV3drs104886247
GWAS Ctlgrs104886247
Max Magnitude0
ClinVar
Risk rs104886247(A;A)
Alt rs104886247(A;A)
Reference rs104886247(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107911576G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021541.1,


OMIM301050
Desc
Variant
Relatedalso
[PMID 8940267OA-icon.png] Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.