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rs587777077

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GAAG;GAAG) 0 common in clinvar
(TCT;TCT) 0 common in clinvar
Make rs587777077(-;-)
Make rs587777077(-;TTC)
Make rs587777077(TTC;TTC)
ReferenceGRCh38 38.1/142
Chromosome18
Position10671605
GenePIEZO2
is asnp
is mentioned by
dbSNPrs587777077
ebirs587777077
HLIrs587777077
Exacrs587777077
Varsomers587777077
Maprs587777077
PheGenIrs587777077
hapmaprs587777077
1000 genomesrs587777077
hgdprs587777077
ensemblrs587777077
gopubmedrs587777077
geneviewrs587777077
scholarrs587777077
googlers587777077
pharmgkbrs587777077
gwascentralrs587777077
openSNPrs587777077
23andMers587777077
23andMe allrs587777077
SNP Nexus

SNPshotrs587777077
SNPdbers587777077
MSV3drs587777077
GWAS Ctlgrs587777077
Max Magnitude0
ClinVar
Risk rs587777077(TTCG,G;TTCG,G)
Alt rs587777077(TTCG,G;TTCG,G)
Reference rs587777077(GAAG;GAAG)
Significance Pathogenic
Disease Oculomelic amyoplasia
Variation info
Gene PIEZO2
CLNDBN Oculomelic amyoplasia
Reversed 1
HGVS NC_000018.9:g.10671600_10671602delTCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000224433.2,