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rs104886297

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886297(A;A)
Make rs104886297(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108694905
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886297
ebirs104886297
HLIrs104886297
Exacrs104886297
Varsomers104886297
Maprs104886297
PheGenIrs104886297
hapmaprs104886297
1000 genomesrs104886297
hgdprs104886297
ensemblrs104886297
gopubmedrs104886297
geneviewrs104886297
scholarrs104886297
googlers104886297
pharmgkbrs104886297
gwascentralrs104886297
openSNPrs104886297
23andMers104886297
23andMe allrs104886297
SNP Nexus

SNPshotrs104886297
SNPdbers104886297
MSV3drs104886297
GWAS Ctlgrs104886297
Max Magnitude0
ClinVar
Risk rs104886297(A;A)
Alt rs104886297(A;A)
Reference rs104886297(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107938135G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021649.1,


OMIM301050
Desc
Variant
Relatedalso
[PMID 8651296OA-icon.png] X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.