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rs104886398

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs104886398(-;-)
Make rs104886398(-;AACC)
Make rs104886398(AACC;AACC)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108677560
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886398
ebirs104886398
HLIrs104886398
Exacrs104886398
Varsomers104886398
Maprs104886398
PheGenIrs104886398
hapmaprs104886398
1000 genomesrs104886398
hgdprs104886398
ensemblrs104886398
gopubmedrs104886398
geneviewrs104886398
scholarrs104886398
googlers104886398
pharmgkbrs104886398
gwascentralrs104886398
openSNPrs104886398
23andMers104886398
23andMe allrs104886398
SNP Nexus

SNPshotrs104886398
SNPdbers104886398
MSV3drs104886398
GWAS Ctlgrs104886398
Max Magnitude0
ClinVar
Risk rs104886398(AACC;AACC)
Alt rs104886398(AACC;AACC)
Reference rs104886398(;)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.11:g.108677578_108677579insAACC
CLNSRC ClinVar
CLNACC RCV000021566.1,


[PMID 17660027] Genetic testing for X-linked Alport syndrome by direct sequencing of COL4A5 cDNA from hair root RNA samples.

OMIM301050
Desc
Variant
Relatedalso