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rs104886371

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886371(C;C)
Make rs104886371(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108622826
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886371
ebirs104886371
HLIrs104886371
Exacrs104886371
Varsomers104886371
Maprs104886371
PheGenIrs104886371
hapmaprs104886371
1000 genomesrs104886371
hgdprs104886371
ensemblrs104886371
gopubmedrs104886371
geneviewrs104886371
scholarrs104886371
googlers104886371
pharmgkbrs104886371
gwascentralrs104886371
openSNPrs104886371
23andMers104886371
23andMe allrs104886371
SNP Nexus

SNPshotrs104886371
SNPdbers104886371
MSV3drs104886371
GWAS Ctlgrs104886371
Max Magnitude0
ClinVar
Risk rs104886371(C,T;C,T)
Alt rs104886371(C,T;C,T)
Reference rs104886371(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107866056G>C; NC_000023.10:g.107866056G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021453.1, RCV000021454.1,


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

OMIM301050
Desc
Variant
Relatedalso
[PMID 20378821OA-icon.png] Genotype-phenotype correlation in X-linked Alport syndrome.