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rs104886202

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886202(G;T)
Make rs104886202(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108625705
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886202
ebirs104886202
HLIrs104886202
Exacrs104886202
Varsomers104886202
Maprs104886202
PheGenIrs104886202
hapmaprs104886202
1000 genomesrs104886202
hgdprs104886202
ensemblrs104886202
gopubmedrs104886202
geneviewrs104886202
scholarrs104886202
googlers104886202
pharmgkbrs104886202
gwascentralrs104886202
openSNPrs104886202
23andMers104886202
23andMe allrs104886202
SNP Nexus

SNPshotrs104886202
SNPdbers104886202
MSV3drs104886202
GWAS Ctlgrs104886202
Max Magnitude0
ClinVar
Risk rs104886202(T;T)
Alt rs104886202(T;T)
Reference rs104886202(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107868935G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021464.1,


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

OMIM301050
Desc
Variant
Relatedalso