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rs587776750

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs587776750(-;-)
Make rs587776750(-;AT)
ReferenceGRCh38 38.1/142
ChromosomeX
Position13716614
GeneOFD1, TRAPPC2
is asnp
is mentioned by
dbSNPrs587776750
ebirs587776750
HLIrs587776750
Exacrs587776750
Varsomers587776750
Maprs587776750
PheGenIrs587776750
hapmaprs587776750
1000 genomesrs587776750
hgdprs587776750
ensemblrs587776750
gopubmedrs587776750
geneviewrs587776750
scholarrs587776750
googlers587776750
pharmgkbrs587776750
gwascentralrs587776750
openSNPrs587776750
23andMers587776750
23andMe allrs587776750
SNP Nexus

SNPshotrs587776750
SNPdbers587776750
MSV3drs587776750
GWAS Ctlgrs587776750
Max Magnitude0
ClinVar
Risk rs587776750(;)
Alt rs587776750(;)
Reference rs587776750(AT;AT)
Significance Pathogenic
Disease Spondyloepiphyseal dysplasia tarda
Variation info
Gene TRAPPC2 OFD1
CLNDBN Spondyloepiphyseal dysplasia tarda
Reversed 1
HGVS NC_000023.10:g.13734733_13734734delAT
CLNSRC OMIM Allelic Variant
CLNACC RCV000012265.13,