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rs104886299

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104886299(A;A)
Make rs104886299(A;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108694909
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886299
ebirs104886299
HLIrs104886299
Exacrs104886299
Varsomers104886299
Maprs104886299
PheGenIrs104886299
hapmaprs104886299
1000 genomesrs104886299
hgdprs104886299
ensemblrs104886299
gopubmedrs104886299
geneviewrs104886299
scholarrs104886299
googlers104886299
pharmgkbrs104886299
gwascentralrs104886299
openSNPrs104886299
23andMers104886299
23andMe allrs104886299
SNP Nexus

SNPshotrs104886299
SNPdbers104886299
MSV3drs104886299
GWAS Ctlgrs104886299
Max Magnitude0
ClinVar
Risk rs104886299(A;A)
Alt rs104886299(A;A)
Reference rs104886299(T;T)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107938139T>A
CLNSRC ARUP COL4A5
CLNACC RCV000021651.1,


[PMID 9848783] High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing.

OMIM301050
Desc
Variant
Relatedalso