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rs104886319

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104886319(A;G)
Make rs104886319(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108591559
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886319
ebirs104886319
HLIrs104886319
Exacrs104886319
Varsomers104886319
Maprs104886319
PheGenIrs104886319
hapmaprs104886319
1000 genomesrs104886319
hgdprs104886319
ensemblrs104886319
gopubmedrs104886319
geneviewrs104886319
scholarrs104886319
googlers104886319
pharmgkbrs104886319
gwascentralrs104886319
openSNPrs104886319
23andMers104886319
23andMe allrs104886319
SNP Nexus

SNPshotrs104886319
SNPdbers104886319
MSV3drs104886319
GWAS Ctlgrs104886319
Max Magnitude0
ClinVar
Risk rs104886319(G;G)
Alt rs104886319(G;G)
Reference rs104886319(A;A)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107834789A>G
CLNSRC ARUP COL4A5
CLNACC RCV000021278.1,


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

OMIM301050
Desc
Variant
Relatedalso