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rs1057519626

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CTGAGAACTTC;CTGAGAACTTC) 0 common in clinvar
Make rs1057519626(-;-)
Make rs1057519626(-;CTGAGAACTTC)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position10762940
GenePIEZO2
is asnp
is mentioned by
dbSNPrs1057519626
dbSNP (classic)rs1057519626
ClinGenrs1057519626
ebirs1057519626
HLIrs1057519626
Exacrs1057519626
Gnomadrs1057519626
Varsomers1057519626
LitVarrs1057519626
Maprs1057519626
PheGenIrs1057519626
Biobankrs1057519626
1000 genomesrs1057519626
hgdprs1057519626
ensemblrs1057519626
geneviewrs1057519626
scholarrs1057519626
googlers1057519626
pharmgkbrs1057519626
gwascentralrs1057519626
openSNPrs1057519626
23andMers1057519626
23andMe allrs1057519626
SNPshotrs1057519626
SNPdbers1057519626
MSV3drs1057519626
GWAS Ctlgrs1057519626
Max Magnitude0
ClinVar
Risk rs1057519626(-;-)
Alt rs1057519626(-;-)
Reference Rs1057519626(CTGAGAACTTC;CTGAGAACTTC)
Significance Pathogenic
Disease Arthrogryposis
Variation info
Gene PIEZO2
CLNDBN Arthrogryposis, distal, with impaired proprioception and touch
Reversed 1
HGVS NC_000018.9:g.10762938_10762948delGAAGTTCTCAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000415541.1,