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: rs371271054
rs371271054
1.000 7 144453621 missense variant T/C snv 2.0E-05 1.4E-05
THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE)
0.800 1.000 1 2011 2011
dbSNP: rs387906935
rs387906935
1.000 7 144682946 missense variant T/G snv
THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE)
0.800 1.000 1 2011 2011
dbSNP: rs13230714
rs13230714
1.000 0.080 7 144477198 intron variant T/G snv 0.22
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 1.000 1 2017 2017
dbSNP: rs2371549
rs2371549
7 144475748 intron variant C/T snv 1.3E-02
CUI: C0678232
Disease: Serum chloride level result
Serum chloride level result
0.700 1.000 1 2013 2013
dbSNP: rs2371549
rs2371549
7 144475748 intron variant C/T snv 1.3E-02
CUI: C0036787
Disease: SERUM CHLORIDE ION TESTS
SERUM CHLORIDE ION TESTS
0.700 1.000 1 2013 2013
dbSNP: rs375169579
rs375169579
1.000 7 144591419 splice region variant T/A snv 8.4E-05; 4.0E-06 8.4E-05
THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE)
0.700 1.000 1 2011 2011
dbSNP: rs387906936
rs387906936
1.000 7 144682975 missense variant A/G snv 8.0E-06
THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE)
0.700 1.000 1 2011 2011
dbSNP: rs1417315589
rs1417315589
1.000 7 144591529 missense variant A/G snv
THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE)
0.700 0
dbSNP: rs1554523224
rs1554523224
1.000 7 144548528 missense variant A/C snv
THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE)
0.700 0
dbSNP: rs776874412
rs776874412
1.000 7 144453664 splice acceptor variant C/T snv
THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE)
0.700 0