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rs104886107

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886107(A;A)
Make rs104886107(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108591091
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886107
ebirs104886107
HLIrs104886107
Exacrs104886107
Varsomers104886107
Maprs104886107
PheGenIrs104886107
hapmaprs104886107
1000 genomesrs104886107
hgdprs104886107
ensemblrs104886107
gopubmedrs104886107
geneviewrs104886107
scholarrs104886107
googlers104886107
pharmgkbrs104886107
gwascentralrs104886107
openSNPrs104886107
23andMers104886107
23andMe allrs104886107
SNP Nexus

SNPshotrs104886107
SNPdbers104886107
MSV3drs104886107
GWAS Ctlgrs104886107
Max Magnitude0
ClinVar
Risk rs104886107(A;A)
Alt rs104886107(A;A)
Reference rs104886107(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107834321G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021257.1,


OMIM301050
Desc
Variant
Relatedalso

[PMID 10094548] Detection of mutations in COL4A5 in patients with Alport syndrome.