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rs104886447

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886447(G;T)
Make rs104886447(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108580706
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886447
ebirs104886447
HLIrs104886447
Exacrs104886447
Varsomers104886447
Maprs104886447
PheGenIrs104886447
hapmaprs104886447
1000 genomesrs104886447
hgdprs104886447
ensemblrs104886447
gopubmedrs104886447
geneviewrs104886447
scholarrs104886447
googlers104886447
pharmgkbrs104886447
gwascentralrs104886447
openSNPrs104886447
23andMers104886447
23andMe allrs104886447
SNP Nexus

SNPshotrs104886447
SNPdbers104886447
MSV3drs104886447
GWAS Ctlgrs104886447
Max Magnitude0
ClinVar
Risk rs104886447(T;T)
Alt rs104886447(T;T)
Reference rs104886447(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107823936G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021207.1,


[PMID 9195222] The clinical spectrum of type IV collagen mutations.

OMIM301050
Desc
Variant
Relatedalso