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rs104886162

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886162(-;-)
Make rs104886162(-;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108602964
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886162
ebirs104886162
HLIrs104886162
Exacrs104886162
Varsomers104886162
Maprs104886162
PheGenIrs104886162
hapmaprs104886162
1000 genomesrs104886162
hgdprs104886162
ensemblrs104886162
gopubmedrs104886162
geneviewrs104886162
scholarrs104886162
googlers104886162
pharmgkbrs104886162
gwascentralrs104886162
openSNPrs104886162
23andMers104886162
23andMe allrs104886162
SNP Nexus

SNPshotrs104886162
SNPdbers104886162
MSV3drs104886162
GWAS Ctlgrs104886162
Max Magnitude0
ClinVar
Risk rs104886162(;)
Alt rs104886162(;)
Reference rs104886162(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107846194delG
CLNSRC ClinVar
CLNACC RCV000021370.1,


[PMID 9848783] High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing.

OMIM301050
Desc
Variant
Relatedalso