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rs104886117

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886117(A;A)
Make rs104886117(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108595557
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886117
ebirs104886117
HLIrs104886117
Exacrs104886117
Varsomers104886117
Maprs104886117
PheGenIrs104886117
hapmaprs104886117
1000 genomesrs104886117
hgdprs104886117
ensemblrs104886117
gopubmedrs104886117
geneviewrs104886117
scholarrs104886117
googlers104886117
pharmgkbrs104886117
gwascentralrs104886117
openSNPrs104886117
23andMers104886117
23andMe allrs104886117
SNP Nexus

SNPshotrs104886117
SNPdbers104886117
MSV3drs104886117
GWAS Ctlgrs104886117
Max Magnitude0
ClinVar
Risk rs104886117(A;A)
Alt rs104886117(A;A)
Reference rs104886117(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107838787G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021294.1,


[PMID 8940267OA-icon.png] Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso