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rs104886350

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886350(G;T)
Make rs104886350(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108563881
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886350
ebirs104886350
HLIrs104886350
Exacrs104886350
Varsomers104886350
Maprs104886350
PheGenIrs104886350
hapmaprs104886350
1000 genomesrs104886350
hgdprs104886350
ensemblrs104886350
gopubmedrs104886350
geneviewrs104886350
scholarrs104886350
googlers104886350
pharmgkbrs104886350
gwascentralrs104886350
openSNPrs104886350
23andMers104886350
23andMe allrs104886350
SNP Nexus

SNPshotrs104886350
SNPdbers104886350
MSV3drs104886350
GWAS Ctlgrs104886350
Max Magnitude0
ClinVar
Risk rs104886350(A,T;A,T)
Alt rs104886350(A,T;A,T)
Reference rs104886350(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107807111G>A; NC_000023.10:g.107807111G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021128.1, RCV000021127.1,


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

OMIM301050
Desc
Variant
Relatedalso
[PMID 20378821OA-icon.png] Genotype-phenotype correlation in X-linked Alport syndrome.