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rs104886385

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104886385(A;G)
Make rs104886385(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108668317
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886385
ebirs104886385
HLIrs104886385
Exacrs104886385
Varsomers104886385
Maprs104886385
PheGenIrs104886385
hapmaprs104886385
1000 genomesrs104886385
hgdprs104886385
ensemblrs104886385
gopubmedrs104886385
geneviewrs104886385
scholarrs104886385
googlers104886385
pharmgkbrs104886385
gwascentralrs104886385
openSNPrs104886385
23andMers104886385
23andMe allrs104886385
SNP Nexus

SNPshotrs104886385
SNPdbers104886385
MSV3drs104886385
GWAS Ctlgrs104886385
Max Magnitude0
ClinVar
Risk rs104886385(G;G)
Alt rs104886385(G;G)
Reference rs104886385(A;A)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107911547A>G
CLNSRC ARUP COL4A5
CLNACC RCV000021534.1,


[PMID 12105244] Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling.

OMIM301050
Desc
Variant
Relatedalso