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rs200857997

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs200857997(G;G)
Make rs200857997(G;T)
ReferenceGRCh38 38.1/142
Chromosome4
Position184659424
GenePRIMPOL
is asnp
is mentioned by
dbSNPrs200857997
ebirs200857997
HLIrs200857997
Exacrs200857997
Varsomers200857997
Maprs200857997
PheGenIrs200857997
hapmaprs200857997
1000 genomesrs200857997
hgdprs200857997
ensemblrs200857997
gopubmedrs200857997
geneviewrs200857997
scholarrs200857997
googlers200857997
pharmgkbrs200857997
gwascentralrs200857997
openSNPrs200857997
23andMers200857997
23andMe allrs200857997
SNP Nexus

SNPshotrs200857997
SNPdbers200857997
MSV3drs200857997
GWAS Ctlgrs200857997
Max Magnitude0
ClinVar
Risk rs200857997(C,G;C,G)
Alt rs200857997(C,G;C,G)
Reference rs200857997(T;T)
Significance Pathogenic
Disease Myopia 22
Variation info
Gene PRIMPOL CCDC111
CLNDBN Myopia 22, autosomal dominant
Reversed 0
HGVS NC_000004.11:g.185580578T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000055646.2,