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rs1057518914

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518914(C;G)
Make rs1057518914(G;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position20193547
GeneRPS6KA3
is asnp
is mentioned by
dbSNPrs1057518914
dbSNP (old)rs1057518914
ClinGenrs1057518914
ebirs1057518914
HLIrs1057518914
Exacrs1057518914
Gnomadrs1057518914
Varsomers1057518914
Maprs1057518914
PheGenIrs1057518914
Biobankrs1057518914
1000 genomesrs1057518914
hgdprs1057518914
ensemblrs1057518914
gopubmedrs1057518914
geneviewrs1057518914
scholarrs1057518914
googlers1057518914
pharmgkbrs1057518914
gwascentralrs1057518914
openSNPrs1057518914
23andMers1057518914
23andMe allrs1057518914
SNPshotrs1057518914
SNPdbers1057518914
MSV3drs1057518914
GWAS Ctlgrs1057518914
Max Magnitude0
ClinVar
Risk rs1057518914(G;G)
Alt rs1057518914(G;G)
Reference Rs1057518914(C;C)
Significance Probable-Pathogenic
Disease Abnormality of the lower limb Clinodactyly Deep philtrum Gastroesophageal reflux Hypertelorism Low anterior hairline Low posterior hairline Low-set ears Micrognathia Mitral valve prolapse Specific learning disability Thoracolumbar scoliosis Triangular face Ventricular septal defect
Variation info
Gene RPS6KA3
CLNDBN Abnormality of the lower limb Clinodactyly Deep philtrum Gastroesophageal reflux Hypertelorism Low anterior hairline Low posterior hairline Low-set ears Micrognathia Mitral valve prolapse Specific learning disability Thoracolumbar scoliosis Triangular face Ventricular septal defect
Reversed 1
HGVS NC_000023.10:g.20211665G>C
CLNSRC
CLNACC RCV000415122.1,