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rs104886132

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886132(A;A)
Make rs104886132(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108598705
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886132
ebirs104886132
HLIrs104886132
Exacrs104886132
Varsomers104886132
Maprs104886132
PheGenIrs104886132
hapmaprs104886132
1000 genomesrs104886132
hgdprs104886132
ensemblrs104886132
gopubmedrs104886132
geneviewrs104886132
scholarrs104886132
googlers104886132
pharmgkbrs104886132
gwascentralrs104886132
openSNPrs104886132
23andMers104886132
23andMe allrs104886132
SNP Nexus

SNPshotrs104886132
SNPdbers104886132
MSV3drs104886132
GWAS Ctlgrs104886132
Max Magnitude0
ClinVar
Risk rs104886132(A;A)
Alt rs104886132(A;A)
Reference rs104886132(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107841935G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021328.1,


[PMID 11462238] Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso