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: rs121908557
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 1.000 2 2004 2008
dbSNP: rs1060499548
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 1.000 1 2017 2017
dbSNP: rs1334099693
rs1334099693
SOX4
0.882 0.080 6 21594732 missense variant C/A;T snv 4.6E-06
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 1.000 1 2019 2019
dbSNP: rs1559810905
rs1559810905
IFIH1
0.827 0.240 2 162273810 missense variant T/A snv
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 1.000 1 2020 2020
dbSNP: rs1561875767
rs1561875767
CUL7 ; KLC4
1.000 0.200 6 43041036 stop gained G/A snv
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 1.000 1 2019 2019
dbSNP: rs1561892336
rs1561892336
CUL7 ; KLC4
0.807 0.200 6 43050050 stop gained C/T snv
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 1.000 1 2019 2019
dbSNP: rs724159949
rs724159949
DYRK1A ; LOC105372797
0.827 0.240 21 37486563 stop gained C/T snv
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 1.000 1 2015 2015
dbSNP: rs797044519
rs797044519
DYRK1A
0.925 21 37478285 stop gained C/A;G;T snv
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 1.000 1 2015 2015
dbSNP: rs797044524
rs797044524
DYRK1A ; LOC105372797
0.925 21 37486513 missense variant A/T snv
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 1.000 1 2015 2015
dbSNP: rs797044525
rs797044525
DYRK1A ; LOC105372797
0.925 21 37490244 missense variant T/G snv
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 1.000 1 2015 2015
dbSNP: rs864309486
rs864309486
GMNN
0.763 0.320 6 24777262 stop gained A/T snv
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 1.000 1 2015 2015
dbSNP: rs1009298200
rs1009298200
ALG1
0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 0
dbSNP: rs1032242817
rs1032242817
DHCR7
0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 0
dbSNP: rs1057518843
rs1057518843
GALC
0.790 0.240 14 87988523 missense variant C/T snv
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 0
dbSNP: rs1057518898
rs1057518898
DYNC2H1
11 103256241 splice donor variant G/A;C snv 4.4E-06
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 0
dbSNP: rs137853027
rs137853027
DYNC2H1
0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 0
dbSNP: rs137854539
rs137854539
GNAS
0.716 0.520 20 58903703 missense variant C/T snv
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 0
dbSNP: rs138659167
rs138659167
DHCR7
0.807 0.320 11 71435840 splice acceptor variant C/A;G snv 5.6E-05; 3.9E-03
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 0
dbSNP: rs1554603293
rs1554603293
CHD7
0.752 0.320 8 60849154 missense variant G/A snv
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 0
dbSNP: rs1555038111
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 0
dbSNP: rs1555103652
rs1555103652
GRIN2B
0.882 0.240 12 13569973 missense variant A/C snv
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 0
dbSNP: rs1555452127
rs1555452127
ALG1
0.742 0.400 16 5079078 missense variant T/C snv
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 0
dbSNP: rs1555493029
rs1555493029
COG7
0.851 0.240 16 23406263 splice acceptor variant C/A snv
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 0
dbSNP: rs1555497604
rs1555497604
COG7
0.851 0.240 16 23452993 start lost A/G snv
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 0
dbSNP: rs1555575860
rs1555575860
COG4
0.732 0.240 16 70496367 missense variant C/G;T snv
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 0