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rs104886370

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886370(A;A)
Make rs104886370(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108622748
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886370
ebirs104886370
HLIrs104886370
Exacrs104886370
Varsomers104886370
Maprs104886370
PheGenIrs104886370
hapmaprs104886370
1000 genomesrs104886370
hgdprs104886370
ensemblrs104886370
gopubmedrs104886370
geneviewrs104886370
scholarrs104886370
googlers104886370
pharmgkbrs104886370
gwascentralrs104886370
openSNPrs104886370
23andMers104886370
23andMe allrs104886370
SNP Nexus

SNPshotrs104886370
SNPdbers104886370
MSV3drs104886370
GWAS Ctlgrs104886370
Max Magnitude0
ClinVar
Risk rs104886370(A;A)
Alt rs104886370(A;A)
Reference rs104886370(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107865978G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021449.1,


[PMID 10561141] Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing.

OMIM301050
Desc
Variant
Relatedalso