Have questions? Visit https://www.reddit.com/r/SNPedia

rs148319220

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs148319220(A;A)
Make rs148319220(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position77335884
GeneADAMTS18
is asnp
is mentioned by
dbSNPrs148319220
dbSNP (classic)rs148319220
ClinGenrs148319220
ebirs148319220
HLIrs148319220
Exacrs148319220
Gnomadrs148319220
Varsomers148319220
LitVarrs148319220
Maprs148319220
PheGenIrs148319220
Biobankrs148319220
1000 genomesrs148319220
hgdprs148319220
ensemblrs148319220
geneviewrs148319220
scholarrs148319220
googlers148319220
pharmgkbrs148319220
gwascentralrs148319220
openSNPrs148319220
23andMers148319220
SNPshotrs148319220
SNPdbers148319220
MSV3drs148319220
GWAS Ctlgrs148319220
Max Magnitude0
ClinVar
Risk rs148319220(A;A) rs148319220(C;C)
Alt rs148319220(A;A) rs148319220(C;C)
Reference Rs148319220(G;G)
Significance Pathogenic
Disease Microcornea
Variation info
Gene ADAMTS18
CLNDBN Microcornea, myopic chorioretinal atrophy, and telecanthus
Reversed 0
HGVS NC_000016.9:g.77369781G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000056278.2,