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: rs864309486
rs864309486
GMNN
0.763 0.320 6 24777262 stop gained A/T snv
CUI: C1857641
Disease: Severe postnatal growth retardation
Severe postnatal growth retardation 		0.700 1.000 1 2015 2015
dbSNP: rs864309487
rs864309487
GMNN
0.763 0.280 6 24777279 frameshift variant TCAA/- delins
CUI: C1857641
Disease: Severe postnatal growth retardation
Severe postnatal growth retardation 		0.700 1.000 1 2015 2015
dbSNP: rs864309488
rs864309488
GMNN
0.776 0.440 6 24777296 missense variant A/G snv
CUI: C1857641
Disease: Severe postnatal growth retardation
Severe postnatal growth retardation 		0.700 1.000 1 2015 2015
dbSNP: rs1555524354
rs1555524354
TP53
0.925 0.080 17 7670626 frameshift variant C/- delins
CUI: C1857641
Disease: Severe postnatal growth retardation
Severe postnatal growth retardation 		0.700 0
dbSNP: rs1555524370
rs1555524370
TP53
0.925 0.080 17 7670632 frameshift variant T/- del
CUI: C1857641
Disease: Severe postnatal growth retardation
Severe postnatal growth retardation 		0.700 0