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rs104886102

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886102(G;T)
Make rs104886102(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108591127
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886102
ebirs104886102
HLIrs104886102
Exacrs104886102
Varsomers104886102
Maprs104886102
PheGenIrs104886102
hapmaprs104886102
1000 genomesrs104886102
hgdprs104886102
ensemblrs104886102
gopubmedrs104886102
geneviewrs104886102
scholarrs104886102
googlers104886102
pharmgkbrs104886102
gwascentralrs104886102
openSNPrs104886102
23andMers104886102
23andMe allrs104886102
SNP Nexus

SNPshotrs104886102
SNPdbers104886102
MSV3drs104886102
GWAS Ctlgrs104886102
Max Magnitude0
ClinVar
Risk rs104886102(T;T)
Alt rs104886102(T;T)
Reference rs104886102(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107834357G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021266.1,


OMIM301050
Desc
Variant
Relatedalso
[PMID 8940267OA-icon.png] Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.