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rs104886207

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104886207(C;T)
Make rs104886207(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108625734
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886207
ebirs104886207
HLIrs104886207
Exacrs104886207
Varsomers104886207
Maprs104886207
PheGenIrs104886207
hapmaprs104886207
1000 genomesrs104886207
hgdprs104886207
ensemblrs104886207
gopubmedrs104886207
geneviewrs104886207
scholarrs104886207
googlers104886207
pharmgkbrs104886207
gwascentralrs104886207
openSNPrs104886207
23andMers104886207
23andMe allrs104886207
SNP Nexus

SNPshotrs104886207
SNPdbers104886207
MSV3drs104886207
GWAS Ctlgrs104886207
Max Magnitude0
ClinVar
Risk rs104886207(T;T)
Alt rs104886207(T;T)
Reference rs104886207(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107868964C>T
CLNSRC ARUP COL4A5
CLNACC RCV000021467.1,


[PMID 8940267OA-icon.png] Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso