chr1:113812320:T>C Detail (hg38) (RSBN1)

Information

Genome

Assembly Position
hg19 chr1:114,354,942-114,354,942 View the variant detail on this assembly version.
hg38 chr1:113,812,320-113,812,320

HGVS

Type Transcript Protein
RefSeq NM_018364.4:c.93A>G NP_060834.2:p.Arg31=
Ensemble ENST00000261441.9:c.93A>G ENST00000261441.9:p.Arg31=
ENST00000612242.4:c.93A>G ENST00000612242.4:p.Arg31=
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 615858 OMIM
HGNC 25642 HGNC
Ensembl ENSG00000081019 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant 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
0.145 Graves Disease We genotyped the five SNPs (rs12760457, rs2797415, rs1310182, rs2476599, and rs3... BeFree 20615141 Detail
0.001 Autoimmune thyroid disease We genotyped the five SNPs (rs12760457, rs2797415, rs1310182, rs2476599, and rs3... BeFree 20615141 Detail
<0.001 thyroiditis We genotyped the five SNPs (rs12760457, rs2797415, rs1310182, rs2476599, and rs3... BeFree 20615141 Detail
0.001 thyroiditis We genotyped the five SNPs (rs12760457, rs2797415, rs1310182, rs2476599, and rs3... BeFree 20615141 Detail
0.524 rheumatoid arthritis We compared the allele frequencies of five haplotype-tagging SNPs in the PTPN22 ... BeFree 20510318 Detail
0.145 Graves Disease The AA genotype of PTPN22 rs3789604 and AA genotype of FCRL3 rs7528684 were corr... BeFree 19438904 Detail
0.228 Graves Disease These preliminary results demonstrate that the immune-regulatory gene CTLA-4 and... BeFree 19438904 Detail
Annotation

Annotations

DescrptionSourceLinks
We genotyped the five SNPs (rs12760457, rs2797415, rs1310182, rs2476599, and rs3789604) of the PTPN2... DisGeNET Detail
We genotyped the five SNPs (rs12760457, rs2797415, rs1310182, rs2476599, and rs3789604) of the PTPN2... DisGeNET Detail
We genotyped the five SNPs (rs12760457, rs2797415, rs1310182, rs2476599, and rs3789604) of the PTPN2... DisGeNET Detail
We genotyped the five SNPs (rs12760457, rs2797415, rs1310182, rs2476599, and rs3789604) of the PTPN2... DisGeNET Detail
We compared the allele frequencies of five haplotype-tagging SNPs in the PTPN22 gene, 2 of which are... DisGeNET Detail
The AA genotype of PTPN22 rs3789604 and AA genotype of FCRL3 rs7528684 were correlated with a reduce... DisGeNET Detail
These preliminary results demonstrate that the immune-regulatory gene CTLA-4 and the thyroid-specifi... 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
chr1:113,812,320-113,812,320
Variant Type
snv
Reference Allele
T
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8240
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)
113252
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.765973227845866E-5
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