Gene: EHBP1L1 ×
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: rs11227229
rs11227229
EHBP1L1
2 11 65586679 intron variant G/A snv 0.45 0.700 1.000 1 2016 2016
dbSNP: rs11606601
rs11606601
EHBP1L1
2 11 65586968 intron variant C/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs3741380
rs3741380
EHBP1L1
3 1.000 0.040 11 65581592 missense variant G/A snv 0.48 0.48 0.700 1.000 1 2019 2019