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rs104886348

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886348(A;A)
Make rs104886348(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108606741
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886348
ebirs104886348
HLIrs104886348
Exacrs104886348
Varsomers104886348
Maprs104886348
PheGenIrs104886348
hapmaprs104886348
1000 genomesrs104886348
hgdprs104886348
ensemblrs104886348
gopubmedrs104886348
geneviewrs104886348
scholarrs104886348
googlers104886348
pharmgkbrs104886348
gwascentralrs104886348
openSNPrs104886348
23andMers104886348
23andMe allrs104886348
SNP Nexus

SNPshotrs104886348
SNPdbers104886348
MSV3drs104886348
GWAS Ctlgrs104886348
Max Magnitude0
ClinVar
Risk rs104886348(A;A)
Alt rs104886348(A;A)
Reference rs104886348(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107849971G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021380.1,


[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