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rs104886416

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104886416(A;G)
Make rs104886416(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108573572
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886416
ebirs104886416
HLIrs104886416
Exacrs104886416
Varsomers104886416
Maprs104886416
PheGenIrs104886416
hapmaprs104886416
1000 genomesrs104886416
hgdprs104886416
ensemblrs104886416
gopubmedrs104886416
geneviewrs104886416
scholarrs104886416
googlers104886416
pharmgkbrs104886416
gwascentralrs104886416
openSNPrs104886416
23andMers104886416
23andMe allrs104886416
SNP Nexus

SNPshotrs104886416
SNPdbers104886416
MSV3drs104886416
GWAS Ctlgrs104886416
Max Magnitude0
ClinVar
Risk rs104886416(G;G)
Alt rs104886416(G;G)
Reference rs104886416(A;A)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107816802A>G
CLNSRC ARUP COL4A5
CLNACC RCV000021155.1,


OMIM301050
Desc
Variant
Relatedalso

[PMID 11462238] Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.