Gene: RSPH4A ×
Source: CLINVAR ×
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: rs768986129
rs768986129
RSPH4A
1 6 116628368 splice donor variant TAGG/- delins 1.2E-05 2.8E-05 0.700 1.000 3 2009 2013
dbSNP: rs118204043
rs118204043
RSPH4A
2 1.000 0.120 6 116628175 stop gained C/T snv 8.0E-06 2.1E-05 0.700 1.000 2 2009 2012
dbSNP: rs1444391928
rs1444391928
RSPH4A
1 6 116617143 frameshift variant A/-;AA delins 0.700 1.000 1 2009 2009
dbSNP: rs371374918
rs371374918
RSPH4A
1 6 116627775 stop gained G/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs750528020
rs750528020
RSPH4A
1 6 116628058 stop gained C/T snv 2.8E-05 4.9E-05 0.700 1.000 1 2013 2013
dbSNP: rs755782051
rs755782051
RSPH4A
1 6 116628100 stop gained C/T snv 2.4E-05 2.1E-05 0.700 1.000 1 2015 2015
dbSNP: rs756868889
rs756868889
RSPH4A
1 6 116617053 stop gained C/T snv 1.2E-05 7.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs869320683
rs869320683
RSPH4A
3 0.925 0.160 6 116623002 splice region variant AAGT/- delins 2.7E-04 0.700 1.000 1 2013 2013
dbSNP: rs1034327724
rs1034327724
RSPH4A
1 6 116628160 stop gained C/T snv 8.0E-06 2.1E-05 0.700 0
dbSNP: rs118204041
rs118204041
RSPH4A
2 1.000 0.120 6 116617083 stop gained C/T snv 2.0E-05 0.700 0
dbSNP: rs118204042
rs118204042
RSPH4A
2 1.000 0.120 6 116616948 stop gained C/T snv 8.0E-06 1.4E-05 0.700 0
dbSNP: rs1554247978
rs1554247978
RSPH4A
1 6 116616634 stop gained C/G snv 0.700 0
dbSNP: rs1554248617
rs1554248617
RSPH4A
1 6 116622771 stop gained T/G snv 0.700 0
dbSNP: rs1554249521
rs1554249521
RSPH4A
1 6 116629594 stop gained C/T snv 0.700 0
dbSNP: rs902750903
rs902750903
RSPH4A
1 6 116629610 frameshift variant A/- delins 4.2E-05 0.700 0