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: rs1568718508
rs1568718508
RIN2
1.000 0.200 20 19992201 frameshift variant -/C delins
CUI: C1832446
Disease: Sparse eyebrow
Sparse eyebrow 		0.700 0
dbSNP: rs1568718508
rs1568718508
RIN2
1.000 0.200 20 19992201 frameshift variant -/C delins
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia 		0.700 0
dbSNP: rs1568718508
rs1568718508
RIN2
1.000 0.200 20 19992201 frameshift variant -/C delins
CUI: C2751321
Disease: Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 		0.700 0
dbSNP: rs1568718508
rs1568718508
RIN2
1.000 0.200 20 19992201 frameshift variant -/C delins
CUI: C0162285
Disease: Edema of eyelid
Edema of eyelid 		0.700 0
dbSNP: rs1568718508
rs1568718508
RIN2
1.000 0.200 20 19992201 frameshift variant -/C delins
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1568718508
rs1568718508
RIN2
1.000 0.200 20 19992201 frameshift variant -/C delins
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 0