chr1:172627498:C>T Detail (hg19) (FASLG)

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Information

Genome

Assembly	Position
hg19	chr1:172,627,498-172,627,498
hg38	chr1:172,658,358-172,658,358 View the variant detail on this assembly version.

[No Data.]

Summary

Links

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Benign	2024-01-19	criteria provided, single submitter	Autoimmune lymphoproliferative syndrome type 1	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	Squamous cell carcinoma of oropharynx	Thus, we determined the associations between four FAS and FASLG promoter variant...	BeFree	25976983	Detail
<0.001	Squamous cell carcinoma of oropharynx	Thus, we determined the associations between four FAS and FASLG promoter variant...	BeFree	25976983	Detail
<0.001	Squamous cell carcinoma of esophagus	The relationship between the FasL gene -844T/C SNP and ESCC was studied using PC...	BeFree	24473454	Detail
0.003	Esophageal Neoplasms	FasL gene -844T/C mutation of esophageal cancer in South China and its clinical ...	BeFree	24473454	Detail
0.121	Non-small cell lung carcinoma	A polymorphic -844T/C in FasL promoter predicts survival and relapse in non-smal...	BeFree	21807637	Detail
0.124	rheumatoid arthritis	Our meta-analysis demonstrates that the CD226 rs763361 and FASL rs763110 polymor...	BeFree	25645050	Detail
0.138	Lupus Erythematosus, Systemic	The -844C/T polymorphism in the Fas ligand promoter associates with Taiwanese SL...	BeFree	15674374	Detail
0.020	Malignant neoplasm of lung	[When numeric scores were assigned to both the SNP and demographic data, and seq...	GAD	19789190	Detail
0.006	Malignant neoplasm of esophagus	FasL gene -844T/C mutation of esophageal cancer in South China and its clinical ...	BeFree	24473454	Detail
<0.001	esophageal carcinoma	FasL gene -844T/C mutation of esophageal cancer in South China and its clinical ...	BeFree	24473454	Detail

Annotation

Descrption	Source	Links
NC_000001.11:g.172658358C>T AND Autoimmune lymphoproliferative syndrome type 1	ClinVar	Detail
Thus, we determined the associations between four FAS and FASLG promoter variants (FAS1377G>A, rs...	DisGeNET	Detail
Thus, we determined the associations between four FAS and FASLG promoter variants (FAS1377G>A, rs...	DisGeNET	Detail
The relationship between the FasL gene -844T/C SNP and ESCC was studied using PCR-RFLP and immunohis...	DisGeNET	Detail
FasL gene -844T/C mutation of esophageal cancer in South China and its clinical significance.	DisGeNET	Detail
A polymorphic -844T/C in FasL promoter predicts survival and relapse in non-small cell lung cancer.	DisGeNET	Detail
Our meta-analysis demonstrates that the CD226 rs763361 and FASL rs763110 polymorphisms are associate...	DisGeNET	Detail
The -844C/T polymorphism in the Fas ligand promoter associates with Taiwanese SLE.	DisGeNET	Detail
[When numeric scores were assigned to both the SNP and demographic data, and sequentially combined b...	DisGeNET	Detail
FasL gene -844T/C mutation of esophageal cancer in South China and its clinical significance.	DisGeNET	Detail
FasL gene -844T/C mutation of esophageal cancer in South China and its clinical significance.	DisGeNET	Detail

Gene: -
dbSNP: rs763110 dbSNP
Genome: hg19
Position: chr1:172,627,498-172,627,498
Variant Type: snv
Reference Allele: C
Alternative Allele: T
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)): rs763110
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.2464
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 4129
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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