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
0.851 0.040 7 66994210 splice donor variant A/C;G snv 4.0E-06; 3.9E-03
CUI: C0457756
Disease: Tooth absent
Tooth absent
0.700 0
dbSNP: rs113993993
rs113993993
0.851 0.040 7 66994210 splice donor variant A/C;G snv 4.0E-06; 3.9E-03
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
0.700 0
dbSNP: rs113993993
rs113993993
0.851 0.040 7 66994210 splice donor variant A/C;G snv 4.0E-06; 3.9E-03
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs113993993
rs113993993
0.851 0.040 7 66994210 splice donor variant A/C;G snv 4.0E-06; 3.9E-03
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia
0.700 0
dbSNP: rs113993993
rs113993993
0.851 0.040 7 66994210 splice donor variant A/C;G snv 4.0E-06; 3.9E-03
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
0.700 0
dbSNP: rs113993993
rs113993993
0.851 0.040 7 66994210 splice donor variant A/C;G snv 4.0E-06; 3.9E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.700 0
dbSNP: rs113993993
rs113993993
0.851 0.040 7 66994210 splice donor variant A/C;G snv 4.0E-06; 3.9E-03
APLASTIC ANEMIA, SUSCEPTIBILITY TO (finding)
0.700 0
dbSNP: rs113993993
rs113993993
0.851 0.040 7 66994210 splice donor variant A/C;G snv 4.0E-06; 3.9E-03
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome
0.700 1.000 4 2003 2013
dbSNP: rs113993993
rs113993993
0.851 0.040 7 66994210 splice donor variant A/C;G snv 4.0E-06; 3.9E-03
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1
0.700 1.000 10 2003 2015