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rs1057519425

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057519425(-;-)
Make rs1057519425(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position10705375
GenePIEZO2
is asnp
is mentioned by
dbSNPrs1057519425
dbSNP (old)rs1057519425
ClinGenrs1057519425
ebirs1057519425
HLIrs1057519425
Exacrs1057519425
Gnomadrs1057519425
Varsomers1057519425
Maprs1057519425
PheGenIrs1057519425
Biobankrs1057519425
1000 genomesrs1057519425
hgdprs1057519425
ensemblrs1057519425
gopubmedrs1057519425
geneviewrs1057519425
scholarrs1057519425
googlers1057519425
pharmgkbrs1057519425
gwascentralrs1057519425
openSNPrs1057519425
23andMers1057519425
23andMe allrs1057519425
SNPshotrs1057519425
SNPdbers1057519425
MSV3drs1057519425
GWAS Ctlgrs1057519425
Max Magnitude0
ClinVar
Risk rs1057519425(-;-)
Alt rs1057519425(-;-)
Reference Rs1057519425(T;T)
Significance Pathogenic
Disease Arthrogryposis
Variation info
Gene PIEZO2
CLNDBN Arthrogryposis, distal, with impaired proprioception and touch
Reversed 1
HGVS NC_000018.9:g.10705373delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000415567.1,