Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs312262830
rs312262830
0.882 0.160 X 13739017 frameshift variant GAAA/- delins
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2008 2008
dbSNP: rs312262890
rs312262890
0.882 0.200 X 13760583 frameshift variant AAAG/-;AAAGAAAG delins
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0