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rs104886276

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886276(C;C)
Make rs104886276(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108687508
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886276
ebirs104886276
HLIrs104886276
Exacrs104886276
Varsomers104886276
Maprs104886276
PheGenIrs104886276
hapmaprs104886276
1000 genomesrs104886276
hgdprs104886276
ensemblrs104886276
gopubmedrs104886276
geneviewrs104886276
scholarrs104886276
googlers104886276
pharmgkbrs104886276
gwascentralrs104886276
openSNPrs104886276
23andMers104886276
23andMe allrs104886276
SNP Nexus

SNPshotrs104886276
SNPdbers104886276
MSV3drs104886276
GWAS Ctlgrs104886276
Max Magnitude0
ClinVar
Risk rs104886276(C;C)
Alt rs104886276(C;C)
Reference rs104886276(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107930738G>C
CLNSRC ARUP COL4A5
CLNACC RCV000021608.1,


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

OMIM301050
Desc
Variant
Relatedalso