Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1131692245
rs1131692245
NPHS1
0.925 0.160 19 35844109 missense variant C/T snv
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.700 0
dbSNP: rs1163944538
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.700 0
dbSNP: rs1352010373
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.700 0
dbSNP: rs138504221
rs138504221
SGSH
0.807 0.280 17 80212128 missense variant A/G snv 9.6E-05 1.5E-04
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.700 0
dbSNP: rs142110773
rs142110773
DDC ; FIGNL1
0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.700 0
dbSNP: rs150726175
rs150726175
NMNAT1
0.776 0.200 1 9982630 missense variant G/A snv 7.0E-04 8.5E-04
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.700 0
dbSNP: rs1555206402
rs1555206402
HMBS
0.790 0.320 11 119093274 stop lost GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- delins
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.700 0
dbSNP: rs1555909961
rs1555909961
TMPRSS15
1.000 0.080 21 18398320 frameshift variant AGTGC/- del
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.700 0
dbSNP: rs370244148
rs370244148
WNT2B
0.882 0.160 1 112514896 stop gained C/A;T snv 1.6E-05; 1.2E-05
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.700 0
dbSNP: rs529855742
rs529855742
SGSH
0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.700 0
dbSNP: rs752914124
rs752914124
SGSH
0.827 0.280 17 80210679 stop gained GGAGGTCCTTG/- del
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.700 0