chr18:67531642:T>A Detail (hg19) (CD226)

Information

Genome

Assembly Position
hg19 chr18:67,531,642-67,531,642
hg38 chr18:69,864,406-69,864,406 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_006566.3:c.919A>T NP_006557.2:p.Ser307Cys
NM_001303619.1:c.454A>T NP_001290548.1:p.Ser152Cys
NM_001303618.1:c.919A>T NP_001290547.1:p.Ser307Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.002
ToMMo:<0.001
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 605397 OMIM
HGNC 16961 HGNC
Ensembl ENSG00000150637 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv60425421 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
0.019 multiple sclerosis Two of these seven SNPs showed evidence of association with multiple sclerosis; ... BeFree 18987646 Detail
0.282 multiple sclerosis Two of these seven SNPs showed evidence of association with multiple sclerosis; ... BeFree 18987646 Detail
0.128 rheumatoid arthritis We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and ... BeFree 21765104 Detail
0.006 Lupus Erythematosus, Systemic We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and ... BeFree 21765104 Detail
<0.001 Diabetes Mellitus, Insulin-Dependent We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and ... BeFree 21765104 Detail
0.019 multiple sclerosis We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and ... BeFree 21765104 Detail
0.005 rheumatoid arthritis We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and ... BeFree 21765104 Detail
0.019 Lupus Erythematosus, Systemic We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and ... BeFree 21765104 Detail
<0.001 multiple sclerosis We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and ... BeFree 21765104 Detail
0.134 Diabetes Mellitus, Insulin-Dependent We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and ... BeFree 21765104 Detail
<0.001 multiple sclerosis We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and ... BeFree 21765104 Detail
0.003 Diabetes Mellitus, Insulin-Dependent We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and ... BeFree 21765104 Detail
0.273 Lupus Erythematosus, Systemic We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and ... BeFree 21765104 Detail
0.124 rheumatoid arthritis Our meta-analysis demonstrates that the CD226 rs763361 and FASL rs763110 polymor... BeFree 25645050 Detail
0.134 Diabetes Mellitus, Insulin-Dependent [Genome-wide association analysis of autoantibody positivity in type 1 diabetes ... GAD 21829393 Detail
0.019 multiple sclerosis Recently, there has been increasing evidence shown that a non-synonymous exchang... BeFree 23073294 Detail
0.134 Diabetes Mellitus, Insulin-Dependent Robust associations of four new chromosome regions from genome-wide analyses of ... GWASCAT 17554260 Detail
0.011 Autoimmune Diseases A nonsynonymous polymorphism in exon 7 of the gene encoding the lymphocyte cell-... BeFree 21521299 Detail
0.011 Autoimmune Diseases Association between the CD226 rs763361 polymorphism and susceptibility to autoim... BeFree 22941566 Detail
<0.001 Polyendocrinopathies, Autoimmune The role of a nonsynonymous CD226 (DNAX-accessory molecule-1) variant (Gly 307Se... BeFree 21521299 Detail
0.134 Diabetes Mellitus, Insulin-Dependent The Ser(307) allele of rs763361 in exon 7 of CD226 predisposes to T1D, MS, and p... BeFree 18971939 Detail
0.019 multiple sclerosis There has been more evidence that a non-synonymous exchange (rs763361/Gly307Ser)... BeFree 22728856 Detail
0.006 Lupus Erythematosus, Systemic This meta-analysis demonstrates the CD226 rs763361 polymorphism confers suscepti... BeFree 22941566 Detail
0.019 multiple sclerosis Novel association of the CD226 (DNAM-1) Gly307Ser polymorphism in Wegener's gran... BeFree 19536154 Detail
0.134 Diabetes Mellitus, Insulin-Dependent [Robust associations of four new chromosome regions from genome-wide analyses of... GAD 17554260 Detail
0.011 Autoimmune Diseases A novel non-synonymous (Gly307Ser) variant, rs763361, of the CD226 gene on chrom... BeFree 20887380 Detail
0.011 Autoimmune Diseases There has been more evidence that a non-synonymous exchange (rs763361/Gly307Ser)... BeFree 22728856 Detail
0.134 Diabetes Mellitus, Insulin-Dependent This meta-analysis demonstrates the CD226 rs763361 polymorphism confers suscepti... BeFree 22941566 Detail
0.011 Autoimmune Diseases Non-synonymous variant (Gly307Ser) in CD226 is associated with susceptibility to... BeFree 20338887 Detail
<0.001 Granulomatosis Novel association of the CD226 (DNAM-1) Gly307Ser polymorphism in Wegener's gran... BeFree 19536154 Detail
0.011 Autoimmune Diseases CD226 Gly307Ser association with multiple autoimmune diseases. BeFree 18971939 Detail
0.134 Diabetes Mellitus, Insulin-Dependent CD226 rs763361 is associated with the susceptibility to type 1 diabetes and grea... BeFree 24891767 Detail
0.001 systemic scleroderma On the other hand, associations were found between the CD226 rs763361 T allele a... BeFree 22941566 Detail
0.119 Diabetes Mellitus, Insulin-Dependent CD226 rs763361 is associated with the susceptibility to type 1 diabetes and grea... BeFree 24891767 Detail
0.127 rheumatoid arthritis The Ser(307) allele of rs763361 in exon 7 of CD226 predisposes to T1D, MS, and p... BeFree 18971939 Detail
0.002 Polyendocrinopathies, Autoimmune PATIENT AND DESIGN: We genotyped rs763361 in a UK cohort of 326 AAD subjects [18... BeFree 21521299 Detail
0.011 Autoimmune Diseases Recently, there has been increasing evidence that a non-synonymous exchange (Gly... BeFree 19536154 Detail
0.134 Diabetes Mellitus, Insulin-Dependent Recently, there has been increasing evidence shown that a non-synonymous exchang... BeFree 23073294 Detail
0.127 rheumatoid arthritis CD226 rs763361 (Gly307Ser) polymorphism is associated with susceptibility to rhe... BeFree 23999715 Detail
0.011 Autoimmune Diseases CD226 Gly307Ser association with multiple autoimmune diseases: a meta-analysis. BeFree 23073294 Detail
0.127 rheumatoid arthritis Recently, there has been increasing evidence shown that a non-synonymous exchang... BeFree 23073294 Detail
0.134 Diabetes Mellitus, Insulin-Dependent Recently, there has been increasing evidence that a non-synonymous exchange (Gly... BeFree 19536154 Detail
Annotation

Annotations

DescrptionSourceLinks
Two of these seven SNPs showed evidence of association with multiple sclerosis; that is rs12708716 f... DisGeNET Detail
Two of these seven SNPs showed evidence of association with multiple sclerosis; that is rs12708716 f... DisGeNET Detail
We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.000... DisGeNET Detail
We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.000... DisGeNET Detail
We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.000... DisGeNET Detail
We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.000... DisGeNET Detail
We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.000... DisGeNET Detail
We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.000... DisGeNET Detail
We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.000... DisGeNET Detail
We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.000... DisGeNET Detail
We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.000... DisGeNET Detail
We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.000... DisGeNET Detail
We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.000... DisGeNET Detail
Our meta-analysis demonstrates that the CD226 rs763361 and FASL rs763110 polymorphisms are associate... DisGeNET Detail
[Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.] DisGeNET Detail
Recently, there has been increasing evidence shown that a non-synonymous exchange (Gly307Ser/rs76336... DisGeNET Detail
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. DisGeNET Detail
A nonsynonymous polymorphism in exon 7 of the gene encoding the lymphocyte cell-surface CD226 (DNAM1... DisGeNET Detail
Association between the CD226 rs763361 polymorphism and susceptibility to autoimmune diseases: a met... DisGeNET Detail
The role of a nonsynonymous CD226 (DNAX-accessory molecule-1) variant (Gly 307Ser) in isolated Addis... DisGeNET Detail
The Ser(307) allele of rs763361 in exon 7 of CD226 predisposes to T1D, MS, and possibly AITD and RA,... DisGeNET Detail
There has been more evidence that a non-synonymous exchange (rs763361/Gly307Ser) in the gene for CD2... DisGeNET Detail
This meta-analysis demonstrates the CD226 rs763361 polymorphism confers susceptibility to autoimmune... DisGeNET Detail
Novel association of the CD226 (DNAM-1) Gly307Ser polymorphism in Wegener's granulomatosis and confi... DisGeNET Detail
[Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.] DisGeNET Detail
A novel non-synonymous (Gly307Ser) variant, rs763361, of the CD226 gene on chromosome 18q22 was rece... DisGeNET Detail
There has been more evidence that a non-synonymous exchange (rs763361/Gly307Ser) in the gene for CD2... DisGeNET Detail
This meta-analysis demonstrates the CD226 rs763361 polymorphism confers susceptibility to autoimmune... DisGeNET Detail
Non-synonymous variant (Gly307Ser) in CD226 is associated with susceptibility to multiple autoimmune... DisGeNET Detail
Novel association of the CD226 (DNAM-1) Gly307Ser polymorphism in Wegener's granulomatosis and confi... DisGeNET Detail
CD226 Gly307Ser association with multiple autoimmune diseases. DisGeNET Detail
CD226 rs763361 is associated with the susceptibility to type 1 diabetes and greater frequency of GAD... DisGeNET Detail
On the other hand, associations were found between the CD226 rs763361 T allele and systemic sclerosi... DisGeNET Detail
CD226 rs763361 is associated with the susceptibility to type 1 diabetes and greater frequency of GAD... DisGeNET Detail
The Ser(307) allele of rs763361 in exon 7 of CD226 predisposes to T1D, MS, and possibly AITD and RA,... DisGeNET Detail
PATIENT AND DESIGN: We genotyped rs763361 in a UK cohort of 326 AAD subjects [183 with associated au... DisGeNET Detail
Recently, there has been increasing evidence that a non-synonymous exchange (Gly307Ser) in the gene ... DisGeNET Detail
Recently, there has been increasing evidence shown that a non-synonymous exchange (Gly307Ser/rs76336... DisGeNET Detail
CD226 rs763361 (Gly307Ser) polymorphism is associated with susceptibility to rheumatoid arthritis in... DisGeNET Detail
CD226 Gly307Ser association with multiple autoimmune diseases: a meta-analysis. DisGeNET Detail
Recently, there has been increasing evidence shown that a non-synonymous exchange (Gly307Ser/rs76336... DisGeNET Detail
Recently, there has been increasing evidence that a non-synonymous exchange (Gly307Ser) in the gene ... 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
hg19
Position
chr18:67,531,642-67,531,642
Variant Type
snv
Reference Allele
T
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1207
Mean of sample read depth (HGVD)
77.91
Standard deviation of sample read depth (HGVD)
33.98
Number of reference allele (HGVD)
1042
Number of alternative allele (HGVD)
2
Allele Frequency (HGVD)
0.0019157088122605363
Gene Symbol (HGVD)
CD226
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))
rs763361
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8640
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1574074074074075E-4
Chromosome Counts in All Race (ExAC)
121364
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
0
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.239675686364985E-6
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