View genomic variant #0000001661

Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.16299312C>T
Published as -
GERP -0.257
Segregation -
DB-ID ZBTB17_000001
MSCV MSCV_0001661
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

1 entry on 1 page. Showing entry 1.
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Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
ZBTB17 00003253 NM_003443.2 0000001661 ?/? c.-3+222G>A p.(=) - - - - r.(=) -
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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