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
0.732 0.320 20 58891811 stop gained C/G;T snv
Acth-Independent Macronodular Adrenal Hyperplasia
0.700 0
dbSNP: rs1057518907
rs1057518907
0.732 0.320 20 58891811 stop gained C/G;T snv
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
0.700 0
dbSNP: rs1057518907
rs1057518907
0.732 0.320 20 58891811 stop gained C/G;T snv
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia
0.700 0
dbSNP: rs1057518907
rs1057518907
0.732 0.320 20 58891811 stop gained C/G;T snv
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.700 0
dbSNP: rs1057518907
rs1057518907
0.732 0.320 20 58891811 stop gained C/G;T snv
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome
0.700 0
dbSNP: rs1057518907
rs1057518907
0.732 0.320 20 58891811 stop gained C/G;T snv
CUI: C0028754
Disease: Obesity
Obesity
0.700 0
dbSNP: rs1057518907
rs1057518907
0.732 0.320 20 58891811 stop gained C/G;T snv
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis
0.700 0
dbSNP: rs1057518907
rs1057518907
0.732 0.320 20 58891811 stop gained C/G;T snv
CUI: C4540135
Disease: PITUITARY ADENOMA 3, MULTIPLE TYPES
PITUITARY ADENOMA 3, MULTIPLE TYPES
0.700 0
dbSNP: rs1057518907
rs1057518907
0.732 0.320 20 58891811 stop gained C/G;T snv
CUI: C2932716
Disease: Pseudohypoparathyroidism Type 1C
Pseudohypoparathyroidism Type 1C
0.700 0
dbSNP: rs1057518907
rs1057518907
0.732 0.320 20 58891811 stop gained C/G;T snv
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia
0.700 0
dbSNP: rs1057518907
rs1057518907
0.732 0.320 20 58891811 stop gained C/G;T snv
CUI: C1864100
Disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB
PSEUDOHYPOPARATHYROIDISM, TYPE IB
0.700 0
dbSNP: rs1057518907
rs1057518907
0.732 0.320 20 58891811 stop gained C/G;T snv
CUI: C0033835
Disease: Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism
0.700 0
dbSNP: rs1057518907
rs1057518907
0.732 0.320 20 58891811 stop gained C/G;T snv
CUI: C0239479
Disease: Round face
Round face
0.700 0
dbSNP: rs1057518907
rs1057518907
0.732 0.320 20 58891811 stop gained C/G;T snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1057518907
rs1057518907
0.732 0.320 20 58891811 stop gained C/G;T snv
CUI: C0151811
Disease: Subcutaneous nodule
Subcutaneous nodule
0.700 0
dbSNP: rs1057518907
rs1057518907
0.732 0.320 20 58891811 stop gained C/G;T snv
CUI: C0039621
Disease: Tetany
Tetany
0.700 0