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rs104886408

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs104886408(-;-)
Make rs104886408(-;TCTT)
Make rs104886408(TCTT;TCTT)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108440166
GeneCOL4A5, COL4A6
is asnp
is mentioned by
dbSNPrs104886408
ebirs104886408
HLIrs104886408
Exacrs104886408
Varsomers104886408
Maprs104886408
PheGenIrs104886408
hapmaprs104886408
1000 genomesrs104886408
hgdprs104886408
ensemblrs104886408
gopubmedrs104886408
geneviewrs104886408
scholarrs104886408
googlers104886408
pharmgkbrs104886408
gwascentralrs104886408
openSNPrs104886408
23andMers104886408
23andMe allrs104886408
SNP Nexus

SNPshotrs104886408
SNPdbers104886408
MSV3drs104886408
GWAS Ctlgrs104886408
Max Magnitude0
ClinVar
Risk rs104886408(TTCT;TTCT)
Alt rs104886408(TTCT;TTCT)
Reference rs104886408(;)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5 COL4A6
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107683393_107683396dupTCTT
CLNSRC ClinVar
CLNACC RCV000021105.1,


[PMID 18616531] MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso