RYR1, ryanodine receptor 1, 6261

N. diseases: 320; N. variants: 248
Disease: Early severe fetal akinesia sequence ×
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: rs200546266
rs200546266 		1.000 0.080 19 38477821 missense variant C/A;T snv 4.0E-06; 1.4E-04
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		0.700 1.000 1 2020 2020
dbSNP: rs587784379
rs587784379 		1.000 0.080 19 38516111 missense variant C/G snv 2.8E-05
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		0.700 1.000 1 2020 2020