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rs7255721

From SNPedia

Orientationplus
Stabilizedplus
Make rs7255721(C;C)
Make rs7255721(C;G)
Make rs7255721(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position8605046
GeneADAMTS10
is asnp
is mentioned by
dbSNPrs7255721
ebirs7255721
HLIrs7255721
Exacrs7255721
Varsomers7255721
Maprs7255721
PheGenIrs7255721
hapmaprs7255721
1000 genomesrs7255721
hgdprs7255721
ensemblrs7255721
gopubmedrs7255721
geneviewrs7255721
scholarrs7255721
googlers7255721
pharmgkbrs7255721
gwascentralrs7255721
openSNPrs7255721
23andMers7255721
23andMe allrs7255721
SNP Nexus

SNPshotrs7255721
SNPdbers7255721
MSV3drs7255721
GWAS Ctlgrs7255721
GMAF0.1478
Max Magnitude
? (C;C) (C;G) (G;G) 28
Venter snp
Source plos
Gene ADAMTS10
allele C
frequency
sift TOLERATED
HuRef 1103691086115
Disease Association Defects in ADAMTS10 are a cause of the autosomal recessive form of Weill-Marchesani syndrome (WMS) (MIM:277600). WMS is characterized by the association of short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma; and, occasionally, heart defects.



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


GET Evidence
ADAMTS10-T134S
aa_change Thr134Ser
aa_change_short T134S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.786762
summary