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rs104886314

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAGT;AAGT) 0 common in clinvar
(GTAA;GTAA) 0 common in clinvar
Make rs104886314(-;-)
Make rs104886314(-;AAGT)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108584528
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886314
ebirs104886314
HLIrs104886314
Exacrs104886314
Varsomers104886314
Maprs104886314
PheGenIrs104886314
hapmaprs104886314
1000 genomesrs104886314
hgdprs104886314
ensemblrs104886314
gopubmedrs104886314
geneviewrs104886314
scholarrs104886314
googlers104886314
pharmgkbrs104886314
gwascentralrs104886314
openSNPrs104886314
23andMers104886314
23andMe allrs104886314
SNP Nexus

SNPshotrs104886314
SNPdbers104886314
MSV3drs104886314
GWAS Ctlgrs104886314
Max Magnitude0
ClinVar
Risk rs104886314(;)
Alt rs104886314(;)
Reference rs104886314(GTAA;GTAA)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107827758_107827761delAAGT
CLNSRC ARUP COL4A5
CLNACC RCV000021235.1,


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

OMIM301050
Desc
Variant
Relatedalso