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rs78972735

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs78972735(G;T)
Make rs78972735(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108622766
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs78972735
ebirs78972735
HLIrs78972735
Exacrs78972735
Varsomers78972735
Maprs78972735
PheGenIrs78972735
hapmaprs78972735
1000 genomesrs78972735
hgdprs78972735
ensemblrs78972735
gopubmedrs78972735
geneviewrs78972735
scholarrs78972735
googlers78972735
pharmgkbrs78972735
gwascentralrs78972735
openSNPrs78972735
23andMers78972735
23andMe allrs78972735
SNP Nexus

SNPshotrs78972735
SNPdbers78972735
MSV3drs78972735
GWAS Ctlgrs78972735
GMAF0.003023
Max Magnitude0
ClinVar
Risk rs78972735(T;T)
Alt rs78972735(T;T)
Reference rs78972735(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107865996G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021452.1,


[PMID 8940267OA-icon.png] Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.