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rs104886173

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886173(A;A)
Make rs104886173(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108606812
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886173
ebirs104886173
HLIrs104886173
Exacrs104886173
Varsomers104886173
Maprs104886173
PheGenIrs104886173
hapmaprs104886173
1000 genomesrs104886173
hgdprs104886173
ensemblrs104886173
gopubmedrs104886173
geneviewrs104886173
scholarrs104886173
googlers104886173
pharmgkbrs104886173
gwascentralrs104886173
openSNPrs104886173
23andMers104886173
23andMe allrs104886173
SNP Nexus

SNPshotrs104886173
SNPdbers104886173
MSV3drs104886173
GWAS Ctlgrs104886173
Max Magnitude0
ClinVar
Risk rs104886173(A,C;A,C)
Alt rs104886173(A,C;A,C)
Reference rs104886173(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107850042G>A; NC_000023.10:g.107850042G>C
CLNSRC ARUP COL4A5
CLNACC RCV000021385.1, RCV000021386.1,


[PMID 8648925] The COL4A5 gene in Japanese Alport syndrome patients: spectrum of mutations of all exons. The Japanese Alport Network.

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