Disease: RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) ×
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: rs1555877286
rs1555877286 		1.000 0.160 22 23803395 stop gained C/T snv
CUI: C1836327
Disease: RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder)
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases 0.700 1.000 6 1999 2015
dbSNP: rs1568937197
rs1568937197 		1.000 0.160 22 23793689 splice donor variant G/A snv
CUI: C1836327
Disease: RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder)
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases 0.700 1.000 3 1999 2011
dbSNP: rs875989800
rs875989800 		0.732 0.480 22 23833670 inframe deletion AGA/- delins
CUI: C1836327
Disease: RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder)
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases 0.700 1.000 3 2012 2014
dbSNP: rs1555877276
rs1555877276 		1.000 0.160 22 23803294 splice acceptor variant G/C snv
CUI: C1836327
Disease: RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder)
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases 0.700 1.000 2 1999 2011
dbSNP: rs1568937087
rs1568937087 		1.000 0.160 22 23793557 splice acceptor variant A/G snv
CUI: C1836327
Disease: RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder)
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases 0.700 1.000 2 1999 2011
dbSNP: rs1060503015
rs1060503015 		1.000 0.160 22 23791780 stop gained C/T snv
CUI: C1836327
Disease: RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder)
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1060503016
rs1060503016 		0.925 0.240 22 23791814 stop gained G/A snv
CUI: C1836327
Disease: RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder)
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1060503017
rs1060503017 		0.925 0.240 22 23825398 frameshift variant GAAGACCT/- del
CUI: C1836327
Disease: RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder)
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555875892
rs1555875892 		1.000 0.160 22 23791797 stop gained -/GATA delins
CUI: C1836327
Disease: RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder)
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555875917
rs1555875917 		1.000 0.160 22 23791846 stop gained A/T snv
CUI: C1836327
Disease: RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder)
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555881567
rs1555881567 		0.925 0.160 22 23833655 missense variant C/G;T snv
CUI: C1836327
Disease: RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder)
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555881586
rs1555881586 		1.000 0.160 22 23833704 splice donor variant G/A snv
CUI: C1836327
Disease: RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder)
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587776678
rs587776678 		1.000 0.160 22 23803383 frameshift variant G/- delins
CUI: C1836327
Disease: RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder)
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs878854600
rs878854600 		0.851 0.240 22 23834262 3 prime UTR variant C/T snv
CUI: C1836327
Disease: RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder)
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases 0.700 0