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rs104886423

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104886423(C;C)
Make rs104886423(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108695042
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886423
ebirs104886423
HLIrs104886423
Exacrs104886423
Varsomers104886423
Maprs104886423
PheGenIrs104886423
hapmaprs104886423
1000 genomesrs104886423
hgdprs104886423
ensemblrs104886423
gopubmedrs104886423
geneviewrs104886423
scholarrs104886423
googlers104886423
pharmgkbrs104886423
gwascentralrs104886423
openSNPrs104886423
23andMers104886423
23andMe allrs104886423
SNP Nexus

SNPshotrs104886423
SNPdbers104886423
MSV3drs104886423
GWAS Ctlgrs104886423
Max Magnitude0
ClinVar
Risk rs104886423(C;C)
Alt rs104886423(C;C)
Reference rs104886423(T;T)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107938272T>C
CLNSRC ARUP COL4A5
CLNACC RCV000021655.1,


[PMID 16517570] Tissue-specific distribution of an alternatively spliced COL4A5 isoform and non-random X chromosome inactivation reflect phenotypic variation in heterozygous X-linked Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso