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rs104886153

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886153(A;A)
Make rs104886153(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108601441
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886153
ebirs104886153
HLIrs104886153
Exacrs104886153
Varsomers104886153
Maprs104886153
PheGenIrs104886153
hapmaprs104886153
1000 genomesrs104886153
hgdprs104886153
ensemblrs104886153
gopubmedrs104886153
geneviewrs104886153
scholarrs104886153
googlers104886153
pharmgkbrs104886153
gwascentralrs104886153
openSNPrs104886153
23andMers104886153
23andMe allrs104886153
SNP Nexus

SNPshotrs104886153
SNPdbers104886153
MSV3drs104886153
GWAS Ctlgrs104886153
Max Magnitude0
ClinVar
Risk rs104886153(A,T;A,T)
Alt rs104886153(A,T;A,T)
Reference rs104886153(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107844671G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021349.1,


[PMID 17396119] Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria.

OMIM301050
Desc
Variant
Relatedalso