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rs104886048

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104886048(A;A)
Make rs104886048(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108539751
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886048
ebirs104886048
HLIrs104886048
Exacrs104886048
Varsomers104886048
Maprs104886048
PheGenIrs104886048
hapmaprs104886048
1000 genomesrs104886048
hgdprs104886048
ensemblrs104886048
gopubmedrs104886048
geneviewrs104886048
scholarrs104886048
googlers104886048
pharmgkbrs104886048
gwascentralrs104886048
openSNPrs104886048
23andMers104886048
23andMe allrs104886048
SNP Nexus

SNPshotrs104886048
SNPdbers104886048
MSV3drs104886048
GWAS Ctlgrs104886048
Max Magnitude0
ClinVar
Risk rs104886048(A;A)
Alt rs104886048(A;A)
Reference rs104886048(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107782981C>A
CLNSRC ARUP COL4A5
CLNACC RCV000021116.1,


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

OMIM301050
Desc
Variant
Relatedalso