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rs104886360

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104886360(G;G)
Make rs104886360(G;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108621793
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886360
ebirs104886360
HLIrs104886360
Exacrs104886360
Varsomers104886360
Maprs104886360
PheGenIrs104886360
hapmaprs104886360
1000 genomesrs104886360
hgdprs104886360
ensemblrs104886360
gopubmedrs104886360
geneviewrs104886360
scholarrs104886360
googlers104886360
pharmgkbrs104886360
gwascentralrs104886360
openSNPrs104886360
23andMers104886360
23andMe allrs104886360
SNP Nexus

SNPshotrs104886360
SNPdbers104886360
MSV3drs104886360
GWAS Ctlgrs104886360
Max Magnitude0
ClinVar
Risk rs104886360(G;G)
Alt rs104886360(G;G)
Reference rs104886360(T;T)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107865023T>G
CLNSRC ARUP COL4A5
CLNACC RCV000021429.1,


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

OMIM301050
Desc
Variant
Relatedalso