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rs104886244

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886244(A;A)
Make rs104886244(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108667165
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886244
ebirs104886244
HLIrs104886244
Exacrs104886244
Varsomers104886244
Maprs104886244
PheGenIrs104886244
hapmaprs104886244
1000 genomesrs104886244
hgdprs104886244
ensemblrs104886244
gopubmedrs104886244
geneviewrs104886244
scholarrs104886244
googlers104886244
pharmgkbrs104886244
gwascentralrs104886244
openSNPrs104886244
23andMers104886244
23andMe allrs104886244
SNP Nexus

SNPshotrs104886244
SNPdbers104886244
MSV3drs104886244
GWAS Ctlgrs104886244
Max Magnitude0
ClinVar
Risk rs104886244(A;A)
Alt rs104886244(A;A)
Reference rs104886244(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107910395G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021530.1,


[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