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rs104886175

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104886175(-;-)
Make rs104886175(-;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108606845
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886175
ebirs104886175
HLIrs104886175
Exacrs104886175
Varsomers104886175
Maprs104886175
PheGenIrs104886175
hapmaprs104886175
1000 genomesrs104886175
hgdprs104886175
ensemblrs104886175
gopubmedrs104886175
geneviewrs104886175
scholarrs104886175
googlers104886175
pharmgkbrs104886175
gwascentralrs104886175
openSNPrs104886175
23andMers104886175
23andMe allrs104886175
SNP Nexus

SNPshotrs104886175
SNPdbers104886175
MSV3drs104886175
GWAS Ctlgrs104886175
Max Magnitude0
ClinVar
Risk rs104886175(;)
Alt rs104886175(;)
Reference rs104886175(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107850075delC
CLNSRC ClinVar
CLNACC RCV000021389.1,


[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