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rs104886129

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886129(C;C)
Make rs104886129(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108597461
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886129
ebirs104886129
HLIrs104886129
Exacrs104886129
Varsomers104886129
Maprs104886129
PheGenIrs104886129
hapmaprs104886129
1000 genomesrs104886129
hgdprs104886129
ensemblrs104886129
gopubmedrs104886129
geneviewrs104886129
scholarrs104886129
googlers104886129
pharmgkbrs104886129
gwascentralrs104886129
openSNPrs104886129
23andMers104886129
23andMe allrs104886129
SNP Nexus

SNPshotrs104886129
SNPdbers104886129
MSV3drs104886129
GWAS Ctlgrs104886129
Max Magnitude0
ClinVar
Risk rs104886129(C;C)
Alt rs104886129(C;C)
Reference rs104886129(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107840691G>C
CLNSRC ARUP COL4A5
CLNACC RCV000021313.1,


[PMID 11223851] Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP.

OMIM301050
Desc
Variant
Relatedalso