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rs104886264

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886264(A;A)
Make rs104886264(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108668496
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886264
ebirs104886264
HLIrs104886264
Exacrs104886264
Varsomers104886264
Maprs104886264
PheGenIrs104886264
hapmaprs104886264
1000 genomesrs104886264
hgdprs104886264
ensemblrs104886264
gopubmedrs104886264
geneviewrs104886264
scholarrs104886264
googlers104886264
pharmgkbrs104886264
gwascentralrs104886264
openSNPrs104886264
23andMers104886264
23andMe allrs104886264
SNP Nexus

SNPshotrs104886264
SNPdbers104886264
MSV3drs104886264
GWAS Ctlgrs104886264
Max Magnitude0
ClinVar
Risk rs104886264(A;A)
Alt rs104886264(A;A)
Reference rs104886264(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107911726G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021561.1,


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

OMIM301050
Desc
Variant
Relatedalso