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rs104886142

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886142(A;A)
Make rs104886142(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108598793
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886142
ebirs104886142
HLIrs104886142
Exacrs104886142
Varsomers104886142
Maprs104886142
PheGenIrs104886142
hapmaprs104886142
1000 genomesrs104886142
hgdprs104886142
ensemblrs104886142
gopubmedrs104886142
geneviewrs104886142
scholarrs104886142
googlers104886142
pharmgkbrs104886142
gwascentralrs104886142
openSNPrs104886142
23andMers104886142
23andMe allrs104886142
SNP Nexus

SNPshotrs104886142
SNPdbers104886142
MSV3drs104886142
GWAS Ctlgrs104886142
Max Magnitude0
ClinVar
Risk rs104886142(A;A)
Alt rs104886142(A;A)
Reference rs104886142(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107842023G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021334.2,


[PMID 17396119] Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria.

OMIM301050
Desc
Variant
Relatedalso