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rs104886446

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886446(A;A)
Make rs104886446(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108580587
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886446
ebirs104886446
HLIrs104886446
Exacrs104886446
Varsomers104886446
Maprs104886446
PheGenIrs104886446
hapmaprs104886446
1000 genomesrs104886446
hgdprs104886446
ensemblrs104886446
gopubmedrs104886446
geneviewrs104886446
scholarrs104886446
googlers104886446
pharmgkbrs104886446
gwascentralrs104886446
openSNPrs104886446
23andMers104886446
23andMe allrs104886446
SNP Nexus

SNPshotrs104886446
SNPdbers104886446
MSV3drs104886446
GWAS Ctlgrs104886446
Max Magnitude0
ClinVar
Risk rs104886446(A;A)
Alt rs104886446(A;A)
Reference rs104886446(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107823817G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021205.1,


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

OMIM301050
Desc
Variant
Relatedalso