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rs104886214

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886214(A;A)
Make rs104886214(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108626218
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886214
ebirs104886214
HLIrs104886214
Exacrs104886214
Varsomers104886214
Maprs104886214
PheGenIrs104886214
hapmaprs104886214
1000 genomesrs104886214
hgdprs104886214
ensemblrs104886214
gopubmedrs104886214
geneviewrs104886214
scholarrs104886214
googlers104886214
pharmgkbrs104886214
gwascentralrs104886214
openSNPrs104886214
23andMers104886214
23andMe allrs104886214
SNP Nexus

SNPshotrs104886214
SNPdbers104886214
MSV3drs104886214
GWAS Ctlgrs104886214
Max Magnitude0
ClinVar
Risk rs104886214(A;A)
Alt rs104886214(A;A)
Reference rs104886214(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107869448G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021474.1,


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

OMIM301050
Desc
Variant
Relatedalso