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rs104886206

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886206(-;-)
Make rs104886206(-;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108624283
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886206
ebirs104886206
HLIrs104886206
Exacrs104886206
Varsomers104886206
Maprs104886206
PheGenIrs104886206
hapmaprs104886206
1000 genomesrs104886206
hgdprs104886206
ensemblrs104886206
gopubmedrs104886206
geneviewrs104886206
scholarrs104886206
googlers104886206
pharmgkbrs104886206
gwascentralrs104886206
openSNPrs104886206
23andMers104886206
23andMe allrs104886206
SNP Nexus

SNPshotrs104886206
SNPdbers104886206
MSV3drs104886206
GWAS Ctlgrs104886206
Max Magnitude0
ClinVar
Risk rs104886206(;)
Alt rs104886206(;)
Reference rs104886206(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107867513delG
CLNSRC ClinVar
CLNACC RCV000021460.1,


[PMID 9195222] The clinical spectrum of type IV collagen mutations.

OMIM301050
Desc
Variant
Relatedalso