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rs104886306

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104886306(C;T)
Make rs104886306(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108696349
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886306
ClinGenrs104886306
ebirs104886306
HLIrs104886306
Exacrs104886306
Varsomers104886306
Maprs104886306
PheGenIrs104886306
hapmaprs104886306
1000 genomesrs104886306
hgdprs104886306
ensemblrs104886306
gopubmedrs104886306
geneviewrs104886306
scholarrs104886306
googlers104886306
pharmgkbrs104886306
gwascentralrs104886306
openSNPrs104886306
23andMers104886306
23andMe allrs104886306
SNP Nexus

SNPshotrs104886306
SNPdbers104886306
MSV3drs104886306
GWAS Ctlgrs104886306
Max Magnitude0
ClinVar
Risk rs104886306(T;T)
Alt rs104886306(T;T)
Reference Rs104886306(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107939579C>T
CLNSRC ARUP COL4A5
CLNACC RCV000021666.1,


[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