TMEM231, transmembrane protein 231, 79583

N. diseases: 132; N. variants: 10
Disease: MECKEL SYNDROME, TYPE 11 ×
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: rs397514754
rs397514754 		1.000 16 75540130 missense variant T/G snv
CUI: C3809352
Disease: MECKEL SYNDROME, TYPE 11
MECKEL SYNDROME, TYPE 11 		0.800 1.000 1 2013 2013
dbSNP: rs200799769
rs200799769 		0.925 16 75542641 missense variant C/T snv 6.8E-05 3.5E-05
CUI: C3809352
Disease: MECKEL SYNDROME, TYPE 11
MECKEL SYNDROME, TYPE 11 		0.700 1.000 2 2012 2016
dbSNP: rs760426025
rs760426025 		0.925 16 75542598 splice region variant T/C snv 6.8E-05 5.6E-05
CUI: C3809352
Disease: MECKEL SYNDROME, TYPE 11
MECKEL SYNDROME, TYPE 11 		0.700 1.000 1 2015 2015
dbSNP: rs1415483600
rs1415483600 		1.000 16 75545825 splice donor variant C/T snv 3.0E-05
CUI: C3809352
Disease: MECKEL SYNDROME, TYPE 11
MECKEL SYNDROME, TYPE 11 		0.700 0
dbSNP: rs200063331
rs200063331 		0.925 16 75556024 stop gained G/T snv 2.3E-04 2.8E-04
CUI: C3809352
Disease: MECKEL SYNDROME, TYPE 11
MECKEL SYNDROME, TYPE 11 		0.700 0
dbSNP: rs397514753
rs397514753 		0.925 0.040 16 75542602 missense variant C/T snv 4.0E-06 4.9E-05
CUI: C3809352
Disease: MECKEL SYNDROME, TYPE 11
MECKEL SYNDROME, TYPE 11 		0.700 0