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: 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: rs1057518944
rs1057518944
NIPBL
0.807 0.280 5 36984990 frameshift variant CT/- delins
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: rs1553655558
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins
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: rs1555564126
rs1555564126
EFTUD2
0.882 0.320 17 44853306 frameshift variant C/- delins
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
dbSNP: rs1559470315
rs1559470315
CTNNB1
0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 0
dbSNP: rs1559931177
rs1559931177
QRICH1
0.827 0.120 3 49047207 stop gained G/A snv
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 0
dbSNP: rs1562203136
rs1562203136
PHIP
0.882 0.120 6 79042902 frameshift variant -/T ins
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 0
dbSNP: rs1564062144
rs1564062144
HNRNPK
1.000 9 83972190 splice acceptor variant C/T snv
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 0
dbSNP: rs1567690011
rs1567690011
PRMT7
0.882 0.080 16 68337496 frameshift variant AG/- delins
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 0
dbSNP: rs1567721991
rs1567721991
PRMT7
0.882 0.080 16 68347257 frameshift variant -/GCTCTCCG delins
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 0
dbSNP: rs1569355102
rs1569355102
DYRK1A
0.695 0.360 21 37472869 frameshift variant TAAC/- delins
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 0
dbSNP: rs369160589
rs369160589
ALG1
0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 0