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: rs1057518786
rs1057518786
SYNGAP1
1.000 6 33441374 splice region variant G/A snv
CUI: C1860816
Disease: Preauricular skin tag
Preauricular skin tag 		0.700 0
dbSNP: rs1555564126
rs1555564126
EFTUD2
0.882 0.320 17 44853306 frameshift variant C/- delins
CUI: C1860816
Disease: Preauricular skin tag
Preauricular skin tag 		0.700 0
dbSNP: rs1567690011
rs1567690011
PRMT7
0.882 0.080 16 68337496 frameshift variant AG/- delins
CUI: C1860816
Disease: Preauricular skin tag
Preauricular skin tag 		0.700 0
dbSNP: rs1567721991
rs1567721991
PRMT7
0.882 0.080 16 68347257 frameshift variant -/GCTCTCCG delins
CUI: C1860816
Disease: Preauricular skin tag
Preauricular skin tag 		0.700 0