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rs104886157

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886157(A;A)
Make rs104886157(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108601467
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886157
ebirs104886157
HLIrs104886157
Exacrs104886157
Varsomers104886157
Maprs104886157
PheGenIrs104886157
hapmaprs104886157
1000 genomesrs104886157
hgdprs104886157
ensemblrs104886157
gopubmedrs104886157
geneviewrs104886157
scholarrs104886157
googlers104886157
pharmgkbrs104886157
gwascentralrs104886157
openSNPrs104886157
23andMers104886157
23andMe allrs104886157
SNP Nexus

SNPshotrs104886157
SNPdbers104886157
MSV3drs104886157
GWAS Ctlgrs104886157
Max Magnitude0
ClinVar
Risk rs104886157(A;A)
Alt rs104886157(A;A)
Reference rs104886157(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107844697G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021353.1,


[PMID 15954103] Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso