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rs1057518791

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518791(A;A)
Make rs1057518791(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position115604739
GeneTRPS1
is asnp
is mentioned by
dbSNPrs1057518791
dbSNP (old)rs1057518791
ClinGenrs1057518791
ebirs1057518791
HLIrs1057518791
Exacrs1057518791
Gnomadrs1057518791
Varsomers1057518791
Maprs1057518791
PheGenIrs1057518791
Biobankrs1057518791
1000 genomesrs1057518791
hgdprs1057518791
ensemblrs1057518791
gopubmedrs1057518791
geneviewrs1057518791
scholarrs1057518791
googlers1057518791
pharmgkbrs1057518791
gwascentralrs1057518791
openSNPrs1057518791
23andMers1057518791
23andMe allrs1057518791
SNPshotrs1057518791
SNPdbers1057518791
MSV3drs1057518791
GWAS Ctlgrs1057518791
Max Magnitude0
ClinVar
Risk rs1057518791(A;A)
Alt rs1057518791(A;A)
Reference Rs1057518791(G;G)
Significance Probable-Pathogenic
Disease Craniosynostosis High pitched voice Hyperextensible skin Mitral valve prolapse Short stature Sparse and thin eyebrow Sparse hair
Variation info
Gene TRPS1
CLNDBN Craniosynostosis High pitched voice Hyperextensible skin Mitral valve prolapse Short stature Sparse and thin eyebrow Sparse hair
Reversed 1
HGVS NC_000008.10:g.116616966C>T
CLNSRC
CLNACC RCV000414836.1,