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rs104886376

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs104886376(-;-)
Make rs104886376(-;TG)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108440127
GeneCOL4A5, COL4A6
is asnp
is mentioned by
dbSNPrs104886376
ebirs104886376
HLIrs104886376
Exacrs104886376
Varsomers104886376
Maprs104886376
PheGenIrs104886376
hapmaprs104886376
1000 genomesrs104886376
hgdprs104886376
ensemblrs104886376
gopubmedrs104886376
geneviewrs104886376
scholarrs104886376
googlers104886376
pharmgkbrs104886376
gwascentralrs104886376
openSNPrs104886376
23andMers104886376
23andMe allrs104886376
SNP Nexus

SNPshotrs104886376
SNPdbers104886376
MSV3drs104886376
GWAS Ctlgrs104886376
Max Magnitude0
ClinVar
Risk rs104886376(;)
Alt rs104886376(;)
Reference rs104886376(TG;TG)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5 COL4A6
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107683357_107683358delTG
CLNSRC ClinVar
CLNACC RCV000021103.1,


[PMID 16941480] A two-tier approach to mutation detection in the COL4A5 gene for Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso