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

rs7255721

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs7255721(C;C)
Make rs7255721(C;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position8605046
GeneADAMTS10
is asnp
is mentioned by
dbSNPrs7255721
dbSNP (classic)rs7255721
ClinGenrs7255721
ebirs7255721
HLIrs7255721
Exacrs7255721
Gnomadrs7255721
Varsomers7255721
LitVarrs7255721
Maprs7255721
PheGenIrs7255721
Biobankrs7255721
1000 genomesrs7255721
hgdprs7255721
ensemblrs7255721
geneviewrs7255721
scholarrs7255721
googlers7255721
pharmgkbrs7255721
gwascentralrs7255721
openSNPrs7255721
23andMers7255721
23andMe allrs7255721
SNPshotrs7255721
SNPdbers7255721
MSV3drs7255721
GWAS Ctlgrs7255721
GMAF0.1478
Max Magnitude0
? (C;C) (C;G) (G;G) 28



[PMID 19836009OA-icon.png] Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature.



ClinVar
Risk rs7255721(C;C)
Alt rs7255721(C;C)
Reference Rs7255721(G;G)
Significance Non-pathogenic
Disease Weill-Marchesani syndrome
Variation info
Gene ADAMTS10
CLNDBN Weill-Marchesani syndrome
Reversed 0
HGVS NC_000019.9:g.8669931G>C
CLNSRC
CLNACC RCV000374892.1,