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rs104886195

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886195(A;A)
Make rs104886195(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108622712
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886195
ebirs104886195
HLIrs104886195
Exacrs104886195
Varsomers104886195
Maprs104886195
PheGenIrs104886195
hapmaprs104886195
1000 genomesrs104886195
hgdprs104886195
ensemblrs104886195
gopubmedrs104886195
geneviewrs104886195
scholarrs104886195
googlers104886195
pharmgkbrs104886195
gwascentralrs104886195
openSNPrs104886195
23andMers104886195
23andMe allrs104886195
SNP Nexus

SNPshotrs104886195
SNPdbers104886195
MSV3drs104886195
GWAS Ctlgrs104886195
Max Magnitude0
ClinVar
Risk rs104886195(A;A)
Alt rs104886195(A;A)
Reference rs104886195(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107865942G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021446.1,


[PMID 15954103] Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso