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rs104886049

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886049(G;T)
Make rs104886049(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108440138
GeneCOL4A5, COL4A6
is asnp
is mentioned by
dbSNPrs104886049
ebirs104886049
HLIrs104886049
Exacrs104886049
Varsomers104886049
Maprs104886049
PheGenIrs104886049
hapmaprs104886049
1000 genomesrs104886049
hgdprs104886049
ensemblrs104886049
gopubmedrs104886049
geneviewrs104886049
scholarrs104886049
googlers104886049
pharmgkbrs104886049
gwascentralrs104886049
openSNPrs104886049
23andMers104886049
23andMe allrs104886049
SNP Nexus

SNPshotrs104886049
SNPdbers104886049
MSV3drs104886049
GWAS Ctlgrs104886049
Max Magnitude0
ClinVar
Risk rs104886049(T;T)
Alt rs104886049(T;T)
Reference rs104886049(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5 COL4A6
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107683368G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021104.1,


[PMID 10563487] Three novel mutations in the COL4A5 gene in Mexican Alport syndrome patients.

OMIM301050
Desc
Variant
Relatedalso