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rs104886179

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886179(A;A)
Make rs104886179(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108614919
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886179
ebirs104886179
HLIrs104886179
Exacrs104886179
Varsomers104886179
Maprs104886179
PheGenIrs104886179
hapmaprs104886179
1000 genomesrs104886179
hgdprs104886179
ensemblrs104886179
gopubmedrs104886179
geneviewrs104886179
scholarrs104886179
googlers104886179
pharmgkbrs104886179
gwascentralrs104886179
openSNPrs104886179
23andMers104886179
23andMe allrs104886179
SNP Nexus

SNPshotrs104886179
SNPdbers104886179
MSV3drs104886179
GWAS Ctlgrs104886179
Max Magnitude0
ClinVar
Risk rs104886179(A;A)
Alt rs104886179(A;A)
Reference rs104886179(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107858149G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021397.1,


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

OMIM301050
Desc
Variant
Relatedalso