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rs104886274

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886274(G;T)
Make rs104886274(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108686112
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886274
ebirs104886274
HLIrs104886274
Exacrs104886274
Varsomers104886274
Maprs104886274
PheGenIrs104886274
hapmaprs104886274
1000 genomesrs104886274
hgdprs104886274
ensemblrs104886274
gopubmedrs104886274
geneviewrs104886274
scholarrs104886274
googlers104886274
pharmgkbrs104886274
gwascentralrs104886274
openSNPrs104886274
23andMers104886274
23andMe allrs104886274
SNP Nexus

SNPshotrs104886274
SNPdbers104886274
MSV3drs104886274
GWAS Ctlgrs104886274
Max Magnitude0
ClinVar
Risk rs104886274(A,C,T;A,C,T)
Alt rs104886274(A,C,T;A,C,T)
Reference rs104886274(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107929342G>C; NC_000023.10:g.107929342G>T
CLNSRC ARUP COL4A5
CLNACC RCV000032085.1, RCV000021603.1,


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


[PMID 15780079] Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts.

OMIM301050
Desc
Variant
Relatedalso

[PMID 21505094] Twenty-one novel mutations identified in the COL4A5 gene in Chinese patients with X-linked Alport's syndrome confirmed by skin biopsy.