Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555939456
rs1555939456
RPS6KA3
0.851 0.200 X 20187956 missense variant T/C snv
CUI: C1850601
Disease: Abnormality of brainstem morphology
Abnormality of brainstem morphology 		0.700 0
dbSNP: rs1555939456
rs1555939456
RPS6KA3
0.851 0.200 X 20187956 missense variant T/C snv
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		0.700 0
dbSNP: rs1555939456
rs1555939456
RPS6KA3
0.851 0.200 X 20187956 missense variant T/C snv
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		0.700 0
dbSNP: rs1555939456
rs1555939456
RPS6KA3
0.851 0.200 X 20187956 missense variant T/C snv
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		0.700 0
dbSNP: rs1555939456
rs1555939456
RPS6KA3
0.851 0.200 X 20187956 missense variant T/C snv
CUI: C0028949
Disease: Oligomenorrhea
Oligomenorrhea 		0.700 0
dbSNP: rs1555939456
rs1555939456
RPS6KA3
0.851 0.200 X 20187956 missense variant T/C snv
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		0.700 0
dbSNP: rs1555939456
rs1555939456
RPS6KA3
0.851 0.200 X 20187956 missense variant T/C snv
CUI: C0086437
Disease: Joint laxity
Joint laxity 		0.700 0
dbSNP: rs1555939456
rs1555939456
RPS6KA3
0.851 0.200 X 20187956 missense variant T/C snv
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		0.700 0
dbSNP: rs1555939456
rs1555939456
RPS6KA3
0.851 0.200 X 20187956 missense variant T/C snv
CUI: C4023791
Disease: Abnormality of the clivus
Abnormality of the clivus 		0.700 0
dbSNP: rs1555939456
rs1555939456
RPS6KA3
0.851 0.200 X 20187956 missense variant T/C snv
CUI: C0040147
Disease: Thyroiditis
Thyroiditis 		0.700 0
dbSNP: rs1555939456
rs1555939456
RPS6KA3
0.851 0.200 X 20187956 missense variant T/C snv
CUI: C4022728
Disease: Abnormal upper to lower segment ratio
Abnormal upper to lower segment ratio 		0.700 0
dbSNP: rs1555939456
rs1555939456
RPS6KA3
0.851 0.200 X 20187956 missense variant T/C snv
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.700 0
dbSNP: rs1555939456
rs1555939456
RPS6KA3
0.851 0.200 X 20187956 missense variant T/C snv
CUI: C4083076
Disease: Increased head circumference
Increased head circumference 		0.700 0
dbSNP: rs1555939456
rs1555939456
RPS6KA3
0.851 0.200 X 20187956 missense variant T/C snv
CUI: C4022964
Disease: Abnormality of the occipital bone
Abnormality of the occipital bone 		0.700 0
dbSNP: rs1555939456
rs1555939456
RPS6KA3
0.851 0.200 X 20187956 missense variant T/C snv
CUI: C0392188
Disease: Abnormal rapid eye movement sleep
Abnormal rapid eye movement sleep 		0.700 0
dbSNP: rs1555939456
rs1555939456
RPS6KA3
0.851 0.200 X 20187956 missense variant T/C snv
CUI: C0016202
Disease: Flatfoot
Flatfoot 		0.700 0
dbSNP: rs1555939456
rs1555939456
RPS6KA3
0.851 0.200 X 20187956 missense variant T/C snv
CUI: C1854114
Disease: Short nose
Short nose 		0.700 0
dbSNP: rs1555939456
rs1555939456
RPS6KA3
0.851 0.200 X 20187956 missense variant T/C snv
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency 		0.700 0
dbSNP: rs1555939456
rs1555939456
RPS6KA3
0.851 0.200 X 20187956 missense variant T/C snv
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.700 0
dbSNP: rs1555939456
rs1555939456
RPS6KA3
0.851 0.200 X 20187956 missense variant T/C snv
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		0.700 0
dbSNP: rs1555939456
rs1555939456
RPS6KA3
0.851 0.200 X 20187956 missense variant T/C snv
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		0.700 0