chr17:42362183:A>G Detail (hg38) (STAT3)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr17:40,514,201-40,514,201 View the variant detail on this assembly version.
hg38	chr17:42,362,183-42,362,183

HGVS

STAT3

Type	Transcript	Protein
RefSeq	NM_003150.3:c.-23-13644T>C
	NM_139276.2:c.-23-13644T>C
	NM_213662.1:c.-4-13663T>C
Ensemble	ENST00000264657.10:c.-23-13644T>C
	ENST00000389272.7:c.-166-15470T>C
	ENST00000404395.3:c.0-13666T>C
	ENST00000585517.5:c.-4-13663T>C
	ENST00000588969.5:c.0-13666T>C
	ENST00000677030.1:c.-23-13644T>C
	ENST00000677152.1:c.0-13666T>C
	ENST00000677421.1:c.-23-13644T>C
	ENST00000677442.1:c.-23-13644T>C
	ENST00000677479.1:c.0-13666T>C
	ENST00000677603.1:c.0-13666T>C
	ENST00000677723.1:c.-4-13663T>C
	ENST00000678043.1:c.-23-13644T>C
	ENST00000678044.1:c.-4-13663T>C
	ENST00000678048.1:c.-23-13644T>C
	ENST00000678535.1:c.-23-13644T>C
	ENST00000678572.1:c.-23-13644T>C
	ENST00000678674.1:c.0-13666T>C
	ENST00000678792.1:c.0-13666T>C
	ENST00000678827.1:c.0-13666T>C
	ENST00000678905.1:c.-23-13644T>C
	ENST00000678906.1:c.-2+11876T>C
	ENST00000678913.1:c.-23-13644T>C
	ENST00000678960.1:c.-24+11876T>C
	ENST00000679014.1:c.-23-13644T>C
	ENST00000679166.1:c.0-13666T>C
	ENST00000679185.1:c.-23-13644T>C
	ENST00000715205.1:c.-4-13663T>C

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:0.428
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

STAT3

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	tgv57810210	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
<0.001	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
0.128	multiple sclerosis	[Genome-wide association study in a high-risk isolate for multiple sclerosis rev...	GAD	20159113	Detail
0.146	Crohn Disease	Genome-wide association defines more than 30 distinct susceptibility loci for Cr...	GWASCAT	18587394	Detail
0.146	Crohn Disease	Associations between STAT3 rs744166 polymorphisms and susceptibility to ulcerati...	BeFree	25286337	Detail
0.059	Malignant tumor of colon	We found that rs744166 in STAT3 was associated with colon cancer risk in two stu...	BeFree	25132422	Detail
0.011	Malignant neoplasm of stomach	rs744166 polymorphism of the STAT3 gene is associated with risk of gastric cance...	BeFree	24864251	Detail
0.067	colon carcinoma	We found that rs744166 in STAT3 was associated with colon cancer risk in two stu...	BeFree	25132422	Detail
0.005	Malignant tumor of colon	We found that rs744166 in STAT3 was associated with colon cancer risk in two stu...	BeFree	25132422	Detail
0.135	ulcerative colitis	Associations between STAT3 rs744166 polymorphisms and susceptibility to ulcerati...	BeFree	25286337	Detail
0.011	stomach carcinoma	rs744166 polymorphism of the STAT3 gene is associated with risk of gastric cance...	BeFree	24864251	Detail
0.146	Crohn Disease	[Genome-wide association defines more than 30 distinct susceptibility loci for C...	GAD	18587394	Detail
0.128	multiple sclerosis	Genome-wide association study in a high-risk isolate for multiple sclerosis reve...	GWASCAT	20159113	Detail
0.007	colon carcinoma	We found that rs744166 in STAT3 was associated with colon cancer risk in two stu...	BeFree	25132422	Detail
0.135	ulcerative colitis	Our data confirm the association between JAK2 rs10758669 (p = 0.026, OR = 1.25, ...	BeFree	22065112	Detail
0.001	ulcerative colitis	Here, we studied the susceptibility nature of three components of IL23 signallin...	BeFree	22269120	Detail
0.133	Inflammatory Bowel Diseases	We analysed five variants (rs10758669 within JAK2, rs744166 within STAT3, rs4958...	BeFree	22065112	Detail
0.131	ulcerative colitis	Our data confirm the association between JAK2 rs10758669 (p = 0.026, OR = 1.25, ...	BeFree	22065112	Detail

Annotation

Annotations

Descrption	Source	Links
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
[Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated vari...	DisGeNET	Detail
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.	DisGeNET	Detail
Associations between STAT3 rs744166 polymorphisms and susceptibility to ulcerative colitis and Crohn...	DisGeNET	Detail
We found that rs744166 in STAT3 was associated with colon cancer risk in two studies; however, the d...	DisGeNET	Detail
rs744166 polymorphism of the STAT3 gene is associated with risk of gastric cancer in a Chinese popul...	DisGeNET	Detail
We found that rs744166 in STAT3 was associated with colon cancer risk in two studies; however, the d...	DisGeNET	Detail
We found that rs744166 in STAT3 was associated with colon cancer risk in two studies; however, the d...	DisGeNET	Detail
Associations between STAT3 rs744166 polymorphisms and susceptibility to ulcerative colitis and Crohn...	DisGeNET	Detail
rs744166 polymorphism of the STAT3 gene is associated with risk of gastric cancer in a Chinese popul...	DisGeNET	Detail
[Genome-wide association defines more than 30 distinct susceptibility loci for Crohn\'s disease.]	DisGeNET	Detail
Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated varia...	DisGeNET	Detail
We found that rs744166 in STAT3 was associated with colon cancer risk in two studies; however, the d...	DisGeNET	Detail
Our data confirm the association between JAK2 rs10758669 (p = 0.026, OR = 1.25, 95% CI = 1.04-1.50) ...	DisGeNET	Detail
Here, we studied the susceptibility nature of three components of IL23 signalling and Th17 cell diff...	DisGeNET	Detail
We analysed five variants (rs10758669 within JAK2, rs744166 within STAT3, rs4958847, rs11747270 and ...	DisGeNET	Detail
Our data confirm the association between JAK2 rs10758669 (p = 0.026, OR = 1.25, 95% CI = 1.04-1.50) ...	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs744166 dbSNP
Genome: hg38
Position: chr17:42,362,183-42,362,183
Variant Type: snv
Reference Allele: A
Alternative Allele: G
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): rs744166
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.428
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 7173
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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