View genomic variant #0000001661

Chromosome 1
Allele Unknown
Affects function (reported) Effect unknown
Affects function (concluded) Effect unknown
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.16299312C>T
Published as -
GERP -0.257
Segregation -
DB-ID ZBTB17_000001
dbSNP ID rs10927875
Frequency -
Sources ;
Reference -
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
ZBTB17 NM_003443.2 ?/? c.-3+222G>A p.(=) - - - - r.(=) -


MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

variation_namechromseq_region_startseq_region_endallele_stringminor_alleleminor_allele_freqvariation_setPhenotype_description
rs1092787511629931216299312C/TT0.2166NHGRI catalog phenotype variantsDilated cardiomyopathy
rs1092787511629931216299312C/TT0.2166NHGRI catalog phenotype variantsBODY MASS INDEX
rs1092787511629931216299312C/TT0.2166NHGRI catalog phenotype variantsHeight
rs1092787511629931216299312C/TT0.2166NHGRI catalog phenotype variantsTwo-hour glucose (BMI adjusted)
rs1092787511629931216299312C/TT0.2166NHGRI catalog phenotype variantsFasting plasma glucose
rs1092787511629931216299312C/TT0.2166NHGRI catalog phenotype variantsFasting insulin
rs1092787511629931216299312C/TT0.2166NHGRI catalog phenotype variantsFasting proinsulin
rs1092787511629931216299312C/TT0.2166NHGRI catalog phenotype variantsBeta-cell function (HOMA-B)
rs1092787511629931216299312C/TT0.2166NHGRI catalog phenotype variantsInsulin resistance (HOMA-IR)
rs1092787511629931216299312C/TT0.2166NHGRI catalog phenotype variantsHbA1c