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: rs387907086
rs387907086
SCARF2
1.000 0.120 22 20431099 missense variant C/T snv
CUI: C1833136
Disease: Marden Walker like syndrome
Marden Walker like syndrome 		0.800 1.000 0 2010 2010
dbSNP: rs587776902
rs587776902
SCARF2
1.000 0.120 22 20429631 frameshift variant AC/- delins
CUI: C1833136
Disease: Marden Walker like syndrome
Marden Walker like syndrome 		0.700 0
dbSNP: rs587777657
rs587777657
SCARF2
1.000 0.120 22 20431972 missense variant A/G snv
CUI: C1833136
Disease: Marden Walker like syndrome
Marden Walker like syndrome 		0.700 0
dbSNP: rs587777658
rs587777658
SCARF2
1.000 0.120 22 20425445 frameshift variant T/- del
CUI: C1833136
Disease: Marden Walker like syndrome
Marden Walker like syndrome 		0.700 0
dbSNP: rs786205883
rs786205883
SCARF2
1.000 0.120 22 20431415 frameshift variant AGCGCGCGCCCCAGCGC/- delins
CUI: C1833136
Disease: Marden Walker like syndrome
Marden Walker like syndrome 		0.700 0