chr17:42329511:G>T Detail (hg38) (STAT3)

Information

Genome

Assembly Position
hg19 chr17:40,481,529-40,481,529 View the variant detail on this assembly version.
hg38 chr17:42,329,511-42,329,511

HGVS

Type Transcript Protein
RefSeq NM_003150.3:c.1233+43C>A
NM_139276.2:c.1233+43C>A
NM_213662.1:c.1233+43C>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 102582 OMIM
HGNC 11364 HGNC
Ensembl ENSG00000168610 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv399058277 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.128 multiple sclerosis Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loc... GWASCAT 22190364 Detail
0.128 multiple sclerosis [We have performed a meta-analysis of GWAS in MS that more than doubles the size... GAD 22190364 Detail
<0.001 thyroiditis We genotyped six single-nucleotide polymorphisms (SNPs) rs1053005, rs2293152, rs... BeFree 24081513 Detail
<0.001 Graves Disease We genotyped six single-nucleotide polymorphisms (SNPs) rs1053005, rs2293152, rs... BeFree 24081513 Detail
Annotation

Annotations

DescrptionSourceLinks
Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. DisGeNET Detail
[We have performed a meta-analysis of GWAS in MS that more than doubles the size of previous gene di... DisGeNET Detail
We genotyped six single-nucleotide polymorphisms (SNPs) rs1053005, rs2293152, rs744166, rs17593222, ... DisGeNET Detail
We genotyped six single-nucleotide polymorphisms (SNPs) rs1053005, rs2293152, rs744166, rs17593222, ... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg38
Position
chr17:42,329,511-42,329,511
Variant Type
snv
Reference Allele
G
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8646
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121380
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.4715768660405338E-5
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