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: rs121918459
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0206733
Disease: Strawberry nevus of skin
Strawberry nevus of skin 		0.700 0
dbSNP: rs1559759089
rs1559759089
ATP6V1A
0.827 0.200 3 113795101 missense variant C/A snv
CUI: C0206733
Disease: Strawberry nevus of skin
Strawberry nevus of skin 		0.700 0
dbSNP: rs587776935
rs587776935
AKT3
0.827 0.120 1 243505296 missense variant G/A snv
CUI: C0206733
Disease: Strawberry nevus of skin
Strawberry nevus of skin 		0.700 0
dbSNP: rs797045283
rs797045283
ARID1B
0.827 0.320 6 157207109 stop gained C/T snv
CUI: C0206733
Disease: Strawberry nevus of skin
Strawberry nevus of skin 		0.700 0
dbSNP: rs886041065
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C0206733
Disease: Strawberry nevus of skin
Strawberry nevus of skin 		0.700 0