rs1057519426

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(GCT;GCT)	0	common in clinvar

Make rs1057519426(CGAA;CGAA)

Make rs1057519426(CGAA;GCT)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

10794978

Gene

PIEZO2

is a	snp
is	mentioned by
dbSNP	rs1057519426
dbSNP (classic)	rs1057519426
ClinGen	rs1057519426
ebi	rs1057519426
HLI	rs1057519426
Exac	rs1057519426
Gnomad	rs1057519426
Varsome	rs1057519426
LitVar	rs1057519426
Map	rs1057519426
PheGenI	rs1057519426
Biobank	rs1057519426
1000 genomes	rs1057519426
hgdp	rs1057519426
ensembl	rs1057519426
geneview	rs1057519426
scholar	rs1057519426
google	rs1057519426
pharmgkb	rs1057519426
gwascentral	rs1057519426
openSNP	rs1057519426
23andMe	rs1057519426
SNPshot	rs1057519426
SNPdbe	rs1057519426
MSV3d	rs1057519426
GWAS Ctlg	rs1057519426

Max Magnitude

0

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,