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: rs1057518907
rs1057518907
0.878 0.179 20 58891811 stop gained C/T snp
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
0.700 1 2015 2015
dbSNP: rs1057518907
rs1057518907
0.878 0.179 20 58891811 stop gained C/T snp
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs1057518907
rs1057518907
0.878 0.179 20 58891811 stop gained C/T snp
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia
0.700 1 2015 2015
dbSNP: rs1057518907
rs1057518907
0.878 0.179 20 58891811 stop gained C/T snp
CUI: C1856468
Disease: Round, full face
Round, full face
0.700 1 2015 2015
dbSNP: rs1057518907
rs1057518907
0.878 0.179 20 58891811 stop gained C/T snp
CUI: C0039621
Disease: Tetany
Tetany
0.700 1 2015 2015
dbSNP: rs1057518907
rs1057518907
0.878 0.179 20 58891811 stop gained C/T snp
CUI: C0683322
Disease: Mental impairment
Mental impairment
0.700 1 2015 2015
dbSNP: rs1057518907
rs1057518907
0.878 0.179 20 58891811 stop gained C/T snp
CUI: C0151811
Disease: Subcutaneous nodule
Subcutaneous nodule
0.700 1 2015 2015
dbSNP: rs1057518907
rs1057518907
0.878 0.179 20 58891811 stop gained C/T snp
CUI: C1963185
Disease: Obesity Adverse Event
Obesity Adverse Event
0.700 1 2015 2015