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rs104886210

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886210(A;A)
Make rs104886210(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108625776
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886210
ebirs104886210
HLIrs104886210
Exacrs104886210
Varsomers104886210
Maprs104886210
PheGenIrs104886210
hapmaprs104886210
1000 genomesrs104886210
hgdprs104886210
ensemblrs104886210
gopubmedrs104886210
geneviewrs104886210
scholarrs104886210
googlers104886210
pharmgkbrs104886210
gwascentralrs104886210
openSNPrs104886210
23andMers104886210
23andMe allrs104886210
SNP Nexus

SNPshotrs104886210
SNPdbers104886210
MSV3drs104886210
GWAS Ctlgrs104886210
Max Magnitude0
ClinVar
Risk rs104886210(A;A)
Alt rs104886210(A;A)
Reference rs104886210(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107869006G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021470.1,


[PMID 9848783] High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing.

OMIM301050
Desc
Variant
Relatedalso