Have questions? Visit https://www.reddit.com/r/SNPedia

rs104886219

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886219(A;A)
Make rs104886219(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108626299
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886219
ebirs104886219
HLIrs104886219
Exacrs104886219
Varsomers104886219
Maprs104886219
PheGenIrs104886219
hapmaprs104886219
1000 genomesrs104886219
hgdprs104886219
ensemblrs104886219
gopubmedrs104886219
geneviewrs104886219
scholarrs104886219
googlers104886219
pharmgkbrs104886219
gwascentralrs104886219
openSNPrs104886219
23andMers104886219
23andMe allrs104886219
SNP Nexus

SNPshotrs104886219
SNPdbers104886219
MSV3drs104886219
GWAS Ctlgrs104886219
Max Magnitude0
ClinVar
Risk rs104886219(A,C,T;A,C,T)
Alt rs104886219(A,C,T;A,C,T)
Reference rs104886219(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107869529G>A; NC_000023.10:g.107869529G>C
CLNSRC ARUP COL4A5
CLNACC RCV000021482.1, RCV000021481.1,


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


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

OMIM301050
Desc
Variant
Relatedalso