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: rs1311814599
rs1311814599
GREB1L ; LOC101927521
1.000 18 21440302 missense variant G/A snv 1.4E-05
CUI: C4540497
Disease: RENAL HYPODYSPLASIA/APLASIA 3
RENAL HYPODYSPLASIA/APLASIA 3 		0.800 0
dbSNP: rs1555654020
rs1555654020
GREB1L
1.000 18 21473099 missense variant C/T snv
CUI: C4540497
Disease: RENAL HYPODYSPLASIA/APLASIA 3
RENAL HYPODYSPLASIA/APLASIA 3 		0.800 1.000 0 2017 2017
dbSNP: rs1555662027
rs1555662027
GREB1L
1.000 18 21508463 missense variant A/G snv
CUI: C4540497
Disease: RENAL HYPODYSPLASIA/APLASIA 3
RENAL HYPODYSPLASIA/APLASIA 3 		0.800 1.000 0 2017 2017
dbSNP: rs1555662061
rs1555662061
GREB1L
1.000 18 21508556 missense variant T/C snv
CUI: C4540497
Disease: RENAL HYPODYSPLASIA/APLASIA 3
RENAL HYPODYSPLASIA/APLASIA 3 		0.800 1.000 0 2017 2017
dbSNP: rs1555663997
rs1555663997
GREB1L
1.000 18 21515583 missense variant G/A snv
CUI: C4540497
Disease: RENAL HYPODYSPLASIA/APLASIA 3
RENAL HYPODYSPLASIA/APLASIA 3 		0.800 1.000 0 2017 2017
dbSNP: rs1555664772
rs1555664772
GREB1L
1.000 18 21518140 missense variant T/G snv
CUI: C4540497
Disease: RENAL HYPODYSPLASIA/APLASIA 3
RENAL HYPODYSPLASIA/APLASIA 3 		0.800 1.000 0 2017 2017
dbSNP: rs1555648043
rs1555648043
GREB1L ; LOC101927521
18 21440301 stop gained C/T snv
CUI: C4231418
Disease: Inner ear malformation
Inner ear malformation 		0.700 0
dbSNP: rs1555649811
rs1555649811
GREB1L ; LOC101927521
1.000 18 21449696 frameshift variant C/- delins
CUI: C4540497
Disease: RENAL HYPODYSPLASIA/APLASIA 3
RENAL HYPODYSPLASIA/APLASIA 3 		0.700 0
dbSNP: rs1555650110
rs1555650110
GREB1L ; LOC101927521
1.000 18 21451082 stop gained G/T snv
CUI: C4540497
Disease: RENAL HYPODYSPLASIA/APLASIA 3
RENAL HYPODYSPLASIA/APLASIA 3 		0.700 0
dbSNP: rs1555659101
rs1555659101
GREB1L
1.000 18 21496602 stop gained C/T snv
CUI: C4540497
Disease: RENAL HYPODYSPLASIA/APLASIA 3
RENAL HYPODYSPLASIA/APLASIA 3 		0.700 0
dbSNP: rs1555660209
rs1555660209
GREB1L
1.000 18 21500568 frameshift variant -/C delins
CUI: C4540497
Disease: RENAL HYPODYSPLASIA/APLASIA 3
RENAL HYPODYSPLASIA/APLASIA 3 		0.700 0
dbSNP: rs1555661490
rs1555661490
GREB1L
18 21505949 missense variant G/T snv
CUI: C4231418
Disease: Inner ear malformation
Inner ear malformation 		0.700 0
dbSNP: rs1555661907
rs1555661907
GREB1L
1.000 18 21508117 splice acceptor variant G/C snv
CUI: C4540497
Disease: RENAL HYPODYSPLASIA/APLASIA 3
RENAL HYPODYSPLASIA/APLASIA 3 		0.700 0
dbSNP: rs1555662052
rs1555662052
GREB1L
1.000 18 21508536 stop gained C/A snv
CUI: C4540497
Disease: RENAL HYPODYSPLASIA/APLASIA 3
RENAL HYPODYSPLASIA/APLASIA 3 		0.700 0
dbSNP: rs1555665627
rs1555665627
GREB1L
1.000 18 21520823 splice donor variant G/- delins
CUI: C4540497
Disease: RENAL HYPODYSPLASIA/APLASIA 3
RENAL HYPODYSPLASIA/APLASIA 3 		0.700 0
dbSNP: rs1567966432
rs1567966432
GREB1L ; LOC101927521
18 21383629 missense variant T/G snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs377314861
rs377314861
GREB1L ; LOC101927521
18 21440307 missense variant C/T snv 6.3E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0