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rs886039822

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs886039822(C;T)
Make rs886039822(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome18
Position10736621
GenePIEZO2
is asnp
is mentioned by
dbSNPrs886039822
dbSNP (classic)rs886039822
ClinGenrs886039822
ebirs886039822
HLIrs886039822
Exacrs886039822
Gnomadrs886039822
Varsomers886039822
LitVarrs886039822
Maprs886039822
PheGenIrs886039822
Biobankrs886039822
1000 genomesrs886039822
hgdprs886039822
ensemblrs886039822
geneviewrs886039822
scholarrs886039822
googlers886039822
pharmgkbrs886039822
gwascentralrs886039822
openSNPrs886039822
23andMers886039822
SNPshotrs886039822
SNPdbers886039822
MSV3drs886039822
GWAS Ctlgrs886039822
Max Magnitude0
ClinVar
Risk rs886039822(G;G) rs886039822(T;T)
Alt rs886039822(G;G) rs886039822(T;T)
Reference Rs886039822(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.10736619G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000256261.1,