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rs104886256

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886256(-;-)
Make rs104886256(-;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108668505
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886256
ebirs104886256
HLIrs104886256
Exacrs104886256
Varsomers104886256
Maprs104886256
PheGenIrs104886256
hapmaprs104886256
1000 genomesrs104886256
hgdprs104886256
ensemblrs104886256
gopubmedrs104886256
geneviewrs104886256
scholarrs104886256
googlers104886256
pharmgkbrs104886256
gwascentralrs104886256
openSNPrs104886256
23andMers104886256
23andMe allrs104886256
SNP Nexus

SNPshotrs104886256
SNPdbers104886256
MSV3drs104886256
GWAS Ctlgrs104886256
Max Magnitude0
ClinVar
Risk rs104886256(;)
Alt rs104886256(;)
Reference rs104886256(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107911735delG
CLNSRC ARUP COL4A5
CLNACC RCV000021562.1,


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

OMIM301050
Desc
Variant
Relatedalso