chr8:49987230:A>G Detail (hg19) (PPDPFL)

Information

Genome

Assembly Position
hg19 chr8:49,987,230-49,987,230
hg38 chr8:49,074,671-49,074,671 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001256598.1:c.*140A>G
NM_001007176.4:c.233+338A>G
NM_001256597.1:c.233+338A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.349
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
Type Database ID Link
Gene MIM
HGNC 31745 HGNC
Ensembl ENSG00000168333 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv33048821 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
0.002 Autoimmune thyroid disease Furthermore, a joint analysis, with the INS and CTLA4 SNPs, revealed that CTLA4 ... BeFree 18940880 Detail
<0.001 Autoimmune thyroid disease Furthermore, a joint analysis, with the INS and CTLA4 SNPs, revealed that CTLA4 ... BeFree 18940880 Detail
0.016 Autoimmune thyroid disease Furthermore, a joint analysis, with the INS and CTLA4 SNPs, revealed that CTLA4 ... BeFree 18940880 Detail
<0.001 Autoimmune thyroid disease Furthermore, a joint analysis, with the INS and CTLA4 SNPs, revealed that CTLA4 ... BeFree 18940880 Detail
Annotation

Annotations

DescrptionSourceLinks
Furthermore, a joint analysis, with the INS and CTLA4 SNPs, revealed that CTLA4 rs3087243, ERBB3 rs2... DisGeNET Detail
Furthermore, a joint analysis, with the INS and CTLA4 SNPs, revealed that CTLA4 rs3087243, ERBB3 rs2... DisGeNET Detail
Furthermore, a joint analysis, with the INS and CTLA4 SNPs, revealed that CTLA4 rs3087243, ERBB3 rs2... DisGeNET Detail
Furthermore, a joint analysis, with the INS and CTLA4 SNPs, revealed that CTLA4 rs3087243, ERBB3 rs2... 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
-
dbSNP
rs2292399 dbSNP
Genome
hg19
Position
chr8:49,987,230-49,987,230
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))
rs2292399
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3487
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5844
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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