Have questions? Visit https://www.reddit.com/r/SNPedia

rs104886080

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886080(A;A)
Make rs104886080(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108580983
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886080
ebirs104886080
HLIrs104886080
Exacrs104886080
Varsomers104886080
Maprs104886080
PheGenIrs104886080
hapmaprs104886080
1000 genomesrs104886080
hgdprs104886080
ensemblrs104886080
gopubmedrs104886080
geneviewrs104886080
scholarrs104886080
googlers104886080
pharmgkbrs104886080
gwascentralrs104886080
openSNPrs104886080
23andMers104886080
23andMe allrs104886080
SNP Nexus

SNPshotrs104886080
SNPdbers104886080
MSV3drs104886080
GWAS Ctlgrs104886080
Max Magnitude0
ClinVar
Risk rs104886080(A;A)
Alt rs104886080(A;A)
Reference rs104886080(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107824213G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021218.1,


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

OMIM301050
Desc
Variant
Relatedalso