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rs886039823

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs886039823(C;C)
Make rs886039823(C;G)
ReferenceGRCh38.p7 38.3/149
Chromosome18
Position10715678
GenePIEZO2
is asnp
is mentioned by
dbSNPrs886039823
dbSNP (classic)rs886039823
ClinGenrs886039823
ebirs886039823
HLIrs886039823
Exacrs886039823
Gnomadrs886039823
Varsomers886039823
LitVarrs886039823
Maprs886039823
PheGenIrs886039823
Biobankrs886039823
1000 genomesrs886039823
hgdprs886039823
ensemblrs886039823
geneviewrs886039823
scholarrs886039823
googlers886039823
pharmgkbrs886039823
gwascentralrs886039823
openSNPrs886039823
23andMers886039823
SNPshotrs886039823
SNPdbers886039823
MSV3drs886039823
GWAS Ctlgrs886039823
Max Magnitude0
ClinVar
Risk rs886039823(C;C)
Alt rs886039823(C;C)
Reference Rs886039823(G;G)
Significance Pathogenic
Disease Arthrogryposis
Variation info
Gene PIEZO2
CLNDBN Arthrogryposis, distal, with impaired proprioception and touch
Reversed 1
HGVS NC_000018.9:g.10715676C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000256311.1,