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rs104886277

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886277(A;A)
Make rs104886277(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108687509
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886277
ebirs104886277
HLIrs104886277
Exacrs104886277
Varsomers104886277
Maprs104886277
PheGenIrs104886277
hapmaprs104886277
1000 genomesrs104886277
hgdprs104886277
ensemblrs104886277
gopubmedrs104886277
geneviewrs104886277
scholarrs104886277
googlers104886277
pharmgkbrs104886277
gwascentralrs104886277
openSNPrs104886277
23andMers104886277
23andMe allrs104886277
SNP Nexus

SNPshotrs104886277
SNPdbers104886277
MSV3drs104886277
GWAS Ctlgrs104886277
Max Magnitude0
ClinVar
Risk rs104886277(A,C;A,C)
Alt rs104886277(A,C;A,C)
Reference rs104886277(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107930739G>A; NC_000023.10:g.107930739G>C
CLNSRC ARUP COL4A5
CLNACC RCV000021612.1, RCV000021611.1,


[PMID 10094548] Detection of mutations in COL4A5 in patients with Alport syndrome.


[PMID 19281745] Atypical Alport syndrome associated with a novel COL4A5 mutation.

OMIM301050
Desc
Variant
Relatedalso