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rs886039824

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs886039824(C;G)
Make rs886039824(G;G)
ReferenceGRCh38.p7 38.3/149
Chromosome18
Position10773414
GenePIEZO2
is asnp
is mentioned by
dbSNPrs886039824
dbSNP (classic)rs886039824
ClinGenrs886039824
ebirs886039824
HLIrs886039824
Exacrs886039824
Gnomadrs886039824
Varsomers886039824
LitVarrs886039824
Maprs886039824
PheGenIrs886039824
Biobankrs886039824
1000 genomesrs886039824
hgdprs886039824
ensemblrs886039824
geneviewrs886039824
scholarrs886039824
googlers886039824
pharmgkbrs886039824
gwascentralrs886039824
openSNPrs886039824
23andMers886039824
SNPshotrs886039824
SNPdbers886039824
MSV3drs886039824
GWAS Ctlgrs886039824
Max Magnitude0
ClinVar
Risk rs886039824(G;G)
Alt rs886039824(G;G)
Reference Rs886039824(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.10773412G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000256344.2,