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rs104886187

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886187(A;A)
Make rs104886187(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108620304
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886187
ebirs104886187
HLIrs104886187
Exacrs104886187
Varsomers104886187
Maprs104886187
PheGenIrs104886187
hapmaprs104886187
1000 genomesrs104886187
hgdprs104886187
ensemblrs104886187
gopubmedrs104886187
geneviewrs104886187
scholarrs104886187
googlers104886187
pharmgkbrs104886187
gwascentralrs104886187
openSNPrs104886187
23andMers104886187
23andMe allrs104886187
SNP Nexus

SNPshotrs104886187
SNPdbers104886187
MSV3drs104886187
GWAS Ctlgrs104886187
Max Magnitude0
ClinVar
Risk rs104886187(A;A)
Alt rs104886187(A;A)
Reference rs104886187(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107863534G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021416.1,


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

OMIM301050
Desc
Variant
Relatedalso