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rs104886383

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104886383(C;G)
Make rs104886383(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108667124
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886383
ebirs104886383
HLIrs104886383
Exacrs104886383
Varsomers104886383
Maprs104886383
PheGenIrs104886383
hapmaprs104886383
1000 genomesrs104886383
hgdprs104886383
ensemblrs104886383
gopubmedrs104886383
geneviewrs104886383
scholarrs104886383
googlers104886383
pharmgkbrs104886383
gwascentralrs104886383
openSNPrs104886383
23andMers104886383
23andMe allrs104886383
SNP Nexus

SNPshotrs104886383
SNPdbers104886383
MSV3drs104886383
GWAS Ctlgrs104886383
Max Magnitude0
ClinVar
Risk rs104886383(G;G)
Alt rs104886383(G;G)
Reference rs104886383(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107910354C>G
CLNSRC ARUP COL4A5
CLNACC RCV000021525.1,


[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