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rs104886308

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886308(A;A)
Make rs104886308(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108696350
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886308
ebirs104886308
HLIrs104886308
Exacrs104886308
Varsomers104886308
Maprs104886308
PheGenIrs104886308
hapmaprs104886308
1000 genomesrs104886308
hgdprs104886308
ensemblrs104886308
gopubmedrs104886308
geneviewrs104886308
scholarrs104886308
googlers104886308
pharmgkbrs104886308
gwascentralrs104886308
openSNPrs104886308
23andMers104886308
23andMe allrs104886308
SNP Nexus

SNPshotrs104886308
SNPdbers104886308
MSV3drs104886308
GWAS Ctlgrs104886308
Max Magnitude0
OMIM303630
Desc
Variant0015
Relatedalso
ClinVar
Risk rs104886308(A,C,T;A,C,T)
Alt rs104886308(A,C,T;A,C,T)
Reference rs104886308(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107939580G>A; NC_000023.10:g.107939580G>C; NC_000023.10:g.107939580G>T
CLNSRC ARUP COL4A5 OMIM Allelic Variant
CLNACC RCV000011213.3, RCV000021668.1, RCV000032091.1,


[PMID 9150741] Common ancestry of three Ashkenazi-American families with Alport syndrome and COL4A5 R1677Q.


[PMID 11223851] Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP. [PMID 21505094] Twenty-one novel mutations identified in the COL4A5 gene in Chinese patients with X-linked Alport's syndrome confirmed by skin biopsy.