Variome
Kuwait Genetic Variant Database
Search
Example: Gene
HNF1B
, Rsid
rs41290504
, Variant
10:101639877-A-C
, Phenotype
BMI and SMYD4
Variant
10:101639877-A-C
Frequency of variant in various dataset
Gen Kuwaiti population
AC = -
AN = -
Alt.AF = 0.270
GWAS-Imputed
Cardio-Metabo
Gen Kuwaiti population
AC = -
AN = -
Alt.AF = 0.288
GWAS-Imputed
OmniExpress
Gen. Kuwaiti population
AC = 277
AN = 934
Alt.AF = 0.297
Exome
-
Type 2 diabetes
AC = 76
AN = 228
Alt.AF = 0.333
Exome
-
Type 1 diabetes
AC = 40
AN = 126
Alt.AF = 0.318
Exome
-
MODY
AC = 27
AN = 94
Alt.AF = 0.287
Exome
-
Kuwait sub population frequency
Sub Population
Allele Count
Allele Number
Allele Frequency
Saudi
56
218
0.2570
Persian
85
252
0.3370
Bedouin
14
68
0.2060
rs11190305
Summary
Chromosome :
10
Position :
101639877
Reference Allele :
A
Alternative Allele :
C
Clinical Significance :
p.C1413W
RS ID :
rs11190305
Gene Info
Gene Name :
DNMBP
Ensemble ID :
-
Gene Region :
Exonic
Exonic Function :
-
Consequence :
nonsynonymous SNV
Prediction
Sift :
T
LRT :
N
Mutation Taster :
P
Mutation Assessor :
L
FATHMM :
T
FATHMM-MKL:
N
FATHMM XF Coding :
N
Global Frequency
gnomAD :
0.3106
EXAC :
0.3442
GME AF :
0.2850
GME NWA :
0.2778
GME NEA :
0.2255
GME AP :
0.2251
GME Israel :
0.4000
GME SD :
0.2500
GME TP :
0.3841
GME CA :
0.3258
Associated Traits
External links
Ensembl :
Click here to search the variant in Ensembl
dbSNP :
Click here to search the variant in dbSNP
UCSC :
Click here to search the variant in UCSC
ClinVar :
Click here to search the variant in ClinVar
