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rs104886112

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886112(A;A)
Make rs104886112(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108591178
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886112
ebirs104886112
HLIrs104886112
Exacrs104886112
Varsomers104886112
Maprs104886112
PheGenIrs104886112
hapmaprs104886112
1000 genomesrs104886112
hgdprs104886112
ensemblrs104886112
gopubmedrs104886112
geneviewrs104886112
scholarrs104886112
googlers104886112
pharmgkbrs104886112
gwascentralrs104886112
openSNPrs104886112
23andMers104886112
23andMe allrs104886112
SNP Nexus

SNPshotrs104886112
SNPdbers104886112
MSV3drs104886112
GWAS Ctlgrs104886112
Max Magnitude0
ClinVar
Risk rs104886112(A;A)
Alt rs104886112(A;A)
Reference rs104886112(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107834408G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021274.1,


[PMID 17660027] Genetic testing for X-linked Alport syndrome by direct sequencing of COL4A5 cDNA from hair root RNA samples.

OMIM301050
Desc
Variant
Relatedalso