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rs104886125

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886125(A;A)
Make rs104886125(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108597396
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886125
ebirs104886125
HLIrs104886125
Exacrs104886125
Varsomers104886125
Maprs104886125
PheGenIrs104886125
hapmaprs104886125
1000 genomesrs104886125
hgdprs104886125
ensemblrs104886125
gopubmedrs104886125
geneviewrs104886125
scholarrs104886125
googlers104886125
pharmgkbrs104886125
gwascentralrs104886125
openSNPrs104886125
23andMers104886125
23andMe allrs104886125
SNP Nexus

SNPshotrs104886125
SNPdbers104886125
MSV3drs104886125
GWAS Ctlgrs104886125
Max Magnitude0
ClinVar
Risk rs104886125(A;A)
Alt rs104886125(A;A)
Reference rs104886125(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107840626G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021308.1,


[PMID 17660027] Genetic testing for X-linked Alport syndrome by direct sequencing of COL4A5 cDNA from hair root RNA samples.

OMIM301050
Desc
Variant
Relatedalso