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rs104886138

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886138(A;A)
Make rs104886138(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108597507
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886138
ClinGenrs104886138
ebirs104886138
HLIrs104886138
Exacrs104886138
Varsomers104886138
Maprs104886138
PheGenIrs104886138
hapmaprs104886138
1000 genomesrs104886138
hgdprs104886138
ensemblrs104886138
gopubmedrs104886138
geneviewrs104886138
scholarrs104886138
googlers104886138
pharmgkbrs104886138
gwascentralrs104886138
openSNPrs104886138
23andMers104886138
23andMe allrs104886138
SNP Nexus

SNPshotrs104886138
SNPdbers104886138
MSV3drs104886138
GWAS Ctlgrs104886138
Max Magnitude0
ClinVar
Risk rs104886138(A;A)
Alt rs104886138(A;A)
Reference Rs104886138(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107840737G>A
CLNSRC ARUP COL4A5 UniProtKB (protein)
CLNACC RCV000021317.1,


[PMID 11462238] Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso