SALL2, spalt like transcription factor 2, 6297

N. diseases: 42; N. variants: 1
Source: ALL
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: rs587776429
rs587776429 		1.000 14 21525643 stop gained C/A snv
CUI: C4011974
Disease: COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE
COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE 		0.700 0