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rs886039821

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs886039821(C;T)
Make rs886039821(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome18
Position10715679
GenePIEZO2
is asnp
is mentioned by
dbSNPrs886039821
dbSNP (classic)rs886039821
ClinGenrs886039821
ebirs886039821
HLIrs886039821
Exacrs886039821
Gnomadrs886039821
Varsomers886039821
LitVarrs886039821
Maprs886039821
PheGenIrs886039821
Biobankrs886039821
1000 genomesrs886039821
hgdprs886039821
ensemblrs886039821
geneviewrs886039821
scholarrs886039821
googlers886039821
pharmgkbrs886039821
gwascentralrs886039821
openSNPrs886039821
23andMers886039821
SNPshotrs886039821
SNPdbers886039821
MSV3drs886039821
GWAS Ctlgrs886039821
Max Magnitude0
ClinVar
Risk rs886039821(T;T)
Alt rs886039821(T;T)
Reference Rs886039821(C;C)
Significance Pathogenic
Disease Arthrogryposis
Variation info
Gene PIEZO2
CLNDBN Arthrogryposis, distal, with impaired proprioception and touch
Reversed 1
HGVS NC_000018.9:g.10715677G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000256348.2,