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rs104886345

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104886345(C;G)
Make rs104886345(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108602961
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886345
ebirs104886345
HLIrs104886345
Exacrs104886345
Varsomers104886345
Maprs104886345
PheGenIrs104886345
hapmaprs104886345
1000 genomesrs104886345
hgdprs104886345
ensemblrs104886345
gopubmedrs104886345
geneviewrs104886345
scholarrs104886345
googlers104886345
pharmgkbrs104886345
gwascentralrs104886345
openSNPrs104886345
23andMers104886345
23andMe allrs104886345
SNP Nexus

SNPshotrs104886345
SNPdbers104886345
MSV3drs104886345
GWAS Ctlgrs104886345
Max Magnitude0
ClinVar
Risk rs104886345(G;G)
Alt rs104886345(G;G)
Reference rs104886345(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107846191C>G
CLNSRC ARUP COL4A5
CLNACC RCV000021368.1,


[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