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rs104886221

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886221(C;C)
Make rs104886221(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108626300
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886221
ebirs104886221
HLIrs104886221
Exacrs104886221
Varsomers104886221
Maprs104886221
PheGenIrs104886221
hapmaprs104886221
1000 genomesrs104886221
hgdprs104886221
ensemblrs104886221
gopubmedrs104886221
geneviewrs104886221
scholarrs104886221
googlers104886221
pharmgkbrs104886221
gwascentralrs104886221
openSNPrs104886221
23andMers104886221
23andMe allrs104886221
SNP Nexus

SNPshotrs104886221
SNPdbers104886221
MSV3drs104886221
GWAS Ctlgrs104886221
Max Magnitude0
ClinVar
Risk rs104886221(C;C)
Alt rs104886221(C;C)
Reference rs104886221(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107869530G>C
CLNSRC ARUP COL4A5
CLNACC RCV000021483.1,


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

OMIM301050
Desc
Variant
Relatedalso