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rs104886340

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886340(G;T)
Make rs104886340(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108601486
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886340
ebirs104886340
HLIrs104886340
Exacrs104886340
Varsomers104886340
Maprs104886340
PheGenIrs104886340
hapmaprs104886340
1000 genomesrs104886340
hgdprs104886340
ensemblrs104886340
gopubmedrs104886340
geneviewrs104886340
scholarrs104886340
googlers104886340
pharmgkbrs104886340
gwascentralrs104886340
openSNPrs104886340
23andMers104886340
23andMe allrs104886340
SNP Nexus

SNPshotrs104886340
SNPdbers104886340
MSV3drs104886340
GWAS Ctlgrs104886340
Max Magnitude0
ClinVar
Risk rs104886340(T;T)
Alt rs104886340(T;T)
Reference rs104886340(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107844716G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021354.1,


[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