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rs104886152

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886152(-;-)
Make rs104886152(-;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108601404
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886152
ebirs104886152
HLIrs104886152
Exacrs104886152
Varsomers104886152
Maprs104886152
PheGenIrs104886152
hapmaprs104886152
1000 genomesrs104886152
hgdprs104886152
ensemblrs104886152
gopubmedrs104886152
geneviewrs104886152
scholarrs104886152
googlers104886152
pharmgkbrs104886152
gwascentralrs104886152
openSNPrs104886152
23andMers104886152
23andMe allrs104886152
SNP Nexus

SNPshotrs104886152
SNPdbers104886152
MSV3drs104886152
GWAS Ctlgrs104886152
Max Magnitude0
ClinVar
Risk rs104886152(;)
Alt rs104886152(;)
Reference rs104886152(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107844634delG
CLNSRC ClinVar
CLNACC RCV000021347.1,


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

OMIM301050
Desc
Variant
Relatedalso