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rs104886341

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104886341(A;G)
Make rs104886341(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108601867
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886341
ebirs104886341
HLIrs104886341
Exacrs104886341
Varsomers104886341
Maprs104886341
PheGenIrs104886341
hapmaprs104886341
1000 genomesrs104886341
hgdprs104886341
ensemblrs104886341
gopubmedrs104886341
geneviewrs104886341
scholarrs104886341
googlers104886341
pharmgkbrs104886341
gwascentralrs104886341
openSNPrs104886341
23andMers104886341
23andMe allrs104886341
SNP Nexus

SNPshotrs104886341
SNPdbers104886341
MSV3drs104886341
GWAS Ctlgrs104886341
Max Magnitude0
ClinVar
Risk rs104886341(G;G)
Alt rs104886341(G;G)
Reference rs104886341(A;A)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107845097A>G
CLNSRC ARUP COL4A5
CLNACC RCV000021356.1,


[PMID 18846626] Gene symbol: COL4A5. Disease: Alport Syndrome.

OMIM301050
Desc
Variant
Relatedalso