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rs7252299

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs7252299(A;A)
Make rs7252299(A;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position8580902
GeneADAMTS10
is asnp
is mentioned by
dbSNPrs7252299
ebirs7252299
HLIrs7252299
Exacrs7252299
Varsomers7252299
Maprs7252299
PheGenIrs7252299
hapmaprs7252299
1000 genomesrs7252299
hgdprs7252299
ensemblrs7252299
gopubmedrs7252299
geneviewrs7252299
scholarrs7252299
googlers7252299
pharmgkbrs7252299
gwascentralrs7252299
openSNPrs7252299
23andMers7252299
23andMe allrs7252299
SNP Nexus

SNPshotrs7252299
SNPdbers7252299
MSV3drs7252299
GWAS Ctlgrs7252299
Max Magnitude0
Venter snp
Source plos
Gene ADAMTS10
allele C
frequency
sift
HuRef 1103691086089
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.



GET Evidence
ADAMTS10-H1101Q
aa_change His1101Gln
aa_change_short H1101Q
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.999814
summary