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rs1057518802

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518802(C;T)
Make rs1057518802(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position45509554
GeneCOL18A1, SLC19A1
is asnp
is mentioned by
dbSNPrs1057518802
dbSNP (old)rs1057518802
ClinGenrs1057518802
ebirs1057518802
HLIrs1057518802
Exacrs1057518802
Gnomadrs1057518802
Varsomers1057518802
LitVarrs1057518802
Maprs1057518802
PheGenIrs1057518802
Biobankrs1057518802
1000 genomesrs1057518802
hgdprs1057518802
ensemblrs1057518802
gopubmedrs1057518802
geneviewrs1057518802
scholarrs1057518802
googlers1057518802
pharmgkbrs1057518802
gwascentralrs1057518802
openSNPrs1057518802
23andMers1057518802
23andMe allrs1057518802
SNPshotrs1057518802
SNPdbers1057518802
MSV3drs1057518802
GWAS Ctlgrs1057518802
Max Magnitude0
ClinVar
Risk rs1057518802(T;T)
Alt rs1057518802(T;T)
Reference Rs1057518802(C;C)
Significance Probable-Pathogenic
Disease Cataract Nystagmus Retinal dystrophy Severe Myopia
Variation info
Gene COL18A1
CLNDBN Cataract Nystagmus Retinal dystrophy Severe Myopia
Reversed 0
HGVS NC_000021.8:g.46929468C>T
CLNSRC
CLNACC RCV000415261.1,