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: rs113993993
rs113993993
0.923 0.179 7 66994210 splice donor variant A/C,G snp 4.0E-06; 3.9E-03 3.9E-03
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome
0.700 17 1993 2016
dbSNP: rs113993993
rs113993993
0.923 0.179 7 66994210 splice donor variant A/C,G snp 4.0E-06; 3.9E-03 3.9E-03
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 12 1999 2014
dbSNP: rs113993993
rs113993993
0.923 0.179 7 66994210 splice donor variant A/C,G snp 4.0E-06; 3.9E-03 3.9E-03
APLASTIC ANEMIA, SUSCEPTIBILITY TO (finding)
0.700 4 2003 2007
dbSNP: rs113993993
rs113993993
0.923 0.179 7 66994210 splice donor variant A/C,G snp 4.0E-06; 3.9E-03 3.9E-03
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs113993993
rs113993993
0.923 0.179 7 66994210 splice donor variant A/C,G snp 4.0E-06; 3.9E-03 3.9E-03
CUI: C0014306
Disease: Enophthalmos
Enophthalmos
0.700 1 2015 2015
dbSNP: rs113993993
rs113993993
0.923 0.179 7 66994210 splice donor variant A/C,G snp 4.0E-06; 3.9E-03 3.9E-03
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
0.700 1 2015 2015
dbSNP: rs113993993
rs113993993
0.923 0.179 7 66994210 splice donor variant A/C,G snp 4.0E-06; 3.9E-03 3.9E-03
CUI: C0457756
Disease: Tooth absent
Tooth absent
0.700 1 2015 2015
dbSNP: rs113993993
rs113993993
0.923 0.179 7 66994210 splice donor variant A/C,G snp 4.0E-06; 3.9E-03 3.9E-03
CUI: C0424688
Disease: Small head
Small head
0.700 1 2015 2015