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: rs1131692272
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1064796765
rs1064796765
DYNC1H1
0.763 0.240 14 102002950 missense variant G/A snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1567010427
rs1567010427
DYNC1H1
0.882 14 102010824 missense variant G/A snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs606231450
rs606231450
BRF1
0.882 0.160 14 105226674 missense variant G/C;T snv 4.0E-06; 4.0E-06
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: rs606231416
rs606231416
BRF1
0.882 0.160 14 105241282 missense variant G/A snv 8.1E-06
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: rs138249161
rs138249161
POLR3B
0.827 0.240 12 106432421 missense variant T/A snv 2.7E-04 3.0E-04
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: rs1297383239
rs1297383239
POLR2E
19 1091909 splice acceptor variant T/C snv 4.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs761469100
rs761469100
IFT81
12 110128960 missense variant C/T snv 1.2E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs143130309
rs143130309
IFT81
12 110163027 missense variant C/A;T snv 2.0E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1057519338
rs1057519338
AMMECR1
0.882 X 110264571 stop gained G/A snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1569405174
rs1569405174
AMMECR1 ; LOC105373312
X 110317618 frameshift variant G/- delins
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: rs267607048
rs267607048
SHOC2
0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 1.000 2 2009 2012
dbSNP: rs369634007
rs369634007
TMEM87B
0.882 0.080 2 112098688 missense variant A/G snv 1.6E-05 2.1E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 1.000 1 2016 2016
dbSNP: rs121918461
rs121918461
PTPN11
0.827 0.240 12 112450362 missense variant A/C;G;T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs121918460
rs121918460
PTPN11
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs121918459
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs121918454
rs121918454
PTPN11
0.742 0.280 12 112450395 missense variant C/A;G;T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs397507514
rs397507514
PTPN11
0.790 0.240 12 112450408 missense variant G/C;T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs121918466
rs121918466
PTPN11
0.752 0.280 12 112450416 missense variant A/G snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs397507517
rs397507517
PTPN11
0.827 0.160 12 112450497 missense variant A/C snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs397507520
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 1.000 3 2002 2008