Source: ALL

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: rs373730800
rs373730800
SBDS ; TYW1
0.925 7 66995320 missense variant T/C;G snv 6.0E-05
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		0.800 1.000 4 2003 2014
dbSNP: rs28942099
rs28942099
SBDS ; TYW1
1.000 7 66995394 missense variant G/T snv 8.0E-06
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		0.700 1.000 4 2003 2014
dbSNP: rs6974485
rs6974485
TYW1
7 67149319 intron variant A/G;T snv
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2012 2012
dbSNP: rs113993990
rs113993990
SBDS ; TYW1
1.000 7 66995298 frameshift variant C/- delins
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		0.700 0
dbSNP: rs373730800
rs373730800
SBDS ; TYW1
0.925 7 66995320 missense variant T/C;G snv 6.0E-05
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		0.700 0
dbSNP: rs373730800
rs373730800
SBDS ; TYW1
0.925 7 66995320 missense variant T/C;G snv 6.0E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs373730800
rs373730800
SBDS ; TYW1
0.925 7 66995320 missense variant T/C;G snv 6.0E-05
CUI: C0239998
Disease: Recurrent infections
Recurrent infections 		0.700 0
dbSNP: rs2690164
rs2690164
TYW1
1.000 0.080 7 67168677 intron variant G/A;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2013 2013