Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057519426

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(GCT;GCT) 0 common in clinvar
Make rs1057519426(CGAA;CGAA)
Make rs1057519426(CGAA;GCT)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position10794978
GenePIEZO2
is asnp
is mentioned by
dbSNPrs1057519426
dbSNP (old)rs1057519426
ClinGenrs1057519426
ebirs1057519426
HLIrs1057519426
Exacrs1057519426
Gnomadrs1057519426
Varsomers1057519426
Maprs1057519426
PheGenIrs1057519426
Biobankrs1057519426
1000 genomesrs1057519426
hgdprs1057519426
ensemblrs1057519426
gopubmedrs1057519426
geneviewrs1057519426
scholarrs1057519426
googlers1057519426
pharmgkbrs1057519426
gwascentralrs1057519426
openSNPrs1057519426
23andMers1057519426
23andMe allrs1057519426
SNPshotrs1057519426
SNPdbers1057519426
MSV3drs1057519426
GWAS Ctlgrs1057519426
Max Magnitude0
ClinVar
Risk rs1057519426(CGAA;CGAA)
Alt rs1057519426(CGAA;CGAA)
Reference Rs1057519426(GCT;GCT)
Significance Pathogenic
Disease Arthrogryposis
Variation info
Gene PIEZO2
CLNDBN Arthrogryposis, distal, with impaired proprioception and touch
Reversed 1
HGVS NC_000018.9:g.10794976_10794978delAGCinsTTCG
CLNSRC OMIM Allelic Variant
CLNACC RCV000415610.1,