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rs104886134

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886134(A;A)
Make rs104886134(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108598835
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886134
ebirs104886134
HLIrs104886134
Exacrs104886134
Varsomers104886134
Maprs104886134
PheGenIrs104886134
hapmaprs104886134
1000 genomesrs104886134
hgdprs104886134
ensemblrs104886134
gopubmedrs104886134
geneviewrs104886134
scholarrs104886134
googlers104886134
pharmgkbrs104886134
gwascentralrs104886134
openSNPrs104886134
23andMers104886134
23andMe allrs104886134
SNP Nexus

SNPshotrs104886134
SNPdbers104886134
MSV3drs104886134
GWAS Ctlgrs104886134
Max Magnitude0
ClinVar
Risk rs104886134(A,C,T;A,C,T)
Alt rs104886134(A,C,T;A,C,T)
Reference rs104886134(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107842065G>C; NC_000023.10:g.107842065G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021341.1, RCV000021342.1,


[PMID 9848783] High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing.


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

OMIM301050
Desc
Variant
Relatedalso