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rs104886252

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886252(G;T)
Make rs104886252(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108668382
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886252
ebirs104886252
HLIrs104886252
Exacrs104886252
Varsomers104886252
Maprs104886252
PheGenIrs104886252
hapmaprs104886252
1000 genomesrs104886252
hgdprs104886252
ensemblrs104886252
gopubmedrs104886252
geneviewrs104886252
scholarrs104886252
googlers104886252
pharmgkbrs104886252
gwascentralrs104886252
openSNPrs104886252
23andMers104886252
23andMe allrs104886252
SNP Nexus

SNPshotrs104886252
SNPdbers104886252
MSV3drs104886252
GWAS Ctlgrs104886252
Max Magnitude0
ClinVar
Risk rs104886252(T;T)
Alt rs104886252(T;T)
Reference rs104886252(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107911612G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021546.1,


[PMID 15954103] Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso