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rs104886312

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886312(A;A)
Make rs104886312(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108591645
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886312
ebirs104886312
HLIrs104886312
Exacrs104886312
Varsomers104886312
Maprs104886312
PheGenIrs104886312
hapmaprs104886312
1000 genomesrs104886312
hgdprs104886312
ensemblrs104886312
gopubmedrs104886312
geneviewrs104886312
scholarrs104886312
googlers104886312
pharmgkbrs104886312
gwascentralrs104886312
openSNPrs104886312
23andMers104886312
23andMe allrs104886312
SNP Nexus

SNPshotrs104886312
SNPdbers104886312
MSV3drs104886312
GWAS Ctlgrs104886312
Max Magnitude0
ClinVar
Risk rs104886312(A;A)
Alt rs104886312(A;A)
Reference rs104886312(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107834875G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021289.1,


[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