Source: CURATED

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: rs1064794050
rs1064794050
IGF2 ; MIR483 ; INS-IGF2
1.000 0.080 11 2135446 stop gained G/A;C snv
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.700 0
dbSNP: rs1114167321
rs1114167321
IGF2 ; MIR483 ; INS-IGF2
1.000 0.080 11 2135365 splice donor variant -/GC delins
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.700 0
dbSNP: rs869320620
rs869320620
IGF2 ; MIR483 ; INS-IGF2
1.000 11 2135501 stop gained G/A;T snv 4.0E-06
CUI: C4225307
Disease: GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES
GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES 		0.700 0