Gene: BLOC1S5-TXNDC5 ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs111331197
rs111331197
TXNDC5 ; BLOC1S5-TXNDC5
1 6 7883235 missense variant C/G;T snv 7.0E-03 6.8E-03 0.700 1.000 1 2018 2018
dbSNP: rs182714900
rs182714900
TXNDC5 ; BLOC1S5-TXNDC5
1 6 7899503 intron variant C/T snv 4.4E-03 0.700 1.000 1 2018 2018