Source: ALL

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: rs137854544
rs137854544
CTSA
0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 1.000 3 1996 2014
dbSNP: rs776780438
rs776780438
SLC27A5 ; ZNF446 ; LOC112268251
19 58480401 stop gained G/A snv 8.1E-06 4.9E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs375633720
rs375633720
CPZ ; GPR78
4 8601494 missense variant C/T snv 2.8E-05 4.2E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs782515431
rs782515431
PLXNA3
X 154464026 missense variant G/C snv 1.1E-05 3.8E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs778037798
rs778037798
PDZRN3
3 73388079 non coding transcript exon variant A/G snv 4.9E-05 3.5E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs786205124
rs786205124
ROGDI
0.701 0.400 16 4798593 frameshift variant G/-;GGG delins 3.5E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs773956500
rs773956500
LAMA5
20 62322722 missense variant T/C snv 4.3E-05 2.9E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1230432769
rs1230432769
KCND1 ; OTUD5
X 48962751 missense variant G/A snv 2.9E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs998297769
rs998297769
GABRE
X 151962587 stop gained G/T snv 1.1E-05 2.8E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs765498367
rs765498367
AMMECR1 ; LOC105373312
0.925 X 110317643 stop gained A/G;T snv 1.2E-04 2.8E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs771063992
rs771063992
DNAJC21
0.827 0.240 5 34937431 stop gained C/T snv 2.8E-05 2.8E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs370270828
rs370270828
BRF1
0.882 0.160 14 105241292 missense variant G/A snv 8.0E-06 2.8E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs748323629
rs748323629
UBR4
1 19151825 missense variant T/C snv 8.0E-06 2.8E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs61753219
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs373957300
rs373957300
BRF1
0.882 0.160 14 105228832 missense variant G/A snv 1.6E-05 2.8E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1259852690
rs1259852690
FBRS
16 30669598 missense variant C/G snv 4.2E-06 2.8E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs984649575
rs984649575
CLIP1
12 122377616 stop gained G/A snv 2.1E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs200034765
rs200034765
HKDC1
10 69247416 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs760297650
rs760297650
MED24
17 40022789 missense variant C/T snv 2.0E-05 2.1E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs141322087
rs141322087
ABCC8
0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs531047390
rs531047390
NRXN3
1.000 0.120 14 78968349 splice region variant A/G snv 2.0E-04 2.1E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs782144677
rs782144677
CHD1L ; LINC00624
1 147285398 frameshift variant A/- del 2.8E-05 2.1E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs201805961
rs201805961
PYGB
20 25292483 missense variant A/G snv 2.4E-05 2.1E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs775141057
rs775141057
POLR3B ; LOC100287944
0.882 0.120 12 106496115 missense variant C/A;T snv 4.0E-06 2.1E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs386834061
rs386834061
VPS13B
0.925 0.360 8 99868312 stop gained C/T snv 2.1E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0