chr1:192812042:C>G Detail (hg38) (RGS2)

Information

Genome

Assembly Position
hg19 chr1:192,781,172-192,781,172 View the variant detail on this assembly version.
hg38 chr1:192,812,042-192,812,042

HGVS

Type Transcript Protein
RefSeq NM_002923.3:c.*446C>G
Ensemble ENST00000235382.7:c.*446C>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.477
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 600861 OMIM
HGNC 9998 HGNC
Ensembl ENSG00000116741 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv4227362 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 Social fear In independent samples, RGS2 markers, including rs4606, which has previously bee... BeFree 18316676 Detail
0.359 Hypertensive disease We assessed whether distributions of 3 single nucleotide polymorphisms in genes ... BeFree 23339167 Detail
0.004 Hypertensive disease Hypertension after preeclampsia and relation to the C1114G polymorphism (rs4606)... BeFree 24593135 Detail
0.008 schizophrenia In this study, we investigated whether the rs4606 SNP in RGS2 alone also showed ... BeFree 19931593 Detail
<0.001 Phobia, Social In independent samples, RGS2 markers, including rs4606, which has previously bee... BeFree 18316676 Detail
<0.001 Parkinsonian Disorders Association analysis between functional polymorphism of the rs4606 SNP in the RG... BeFree 19931593 Detail
0.239 Hypertensive disease We assessed whether distributions of 3 single nucleotide polymorphisms in genes ... BeFree 23339167 Detail
<0.001 schizophrenia Association analysis between functional polymorphism of the rs4606 SNP in the RG... BeFree 19931593 Detail
0.008 schizophrenia [Association analysis between functional polymorphism of the rs4606 SNP in the R... GAD 19931593 Detail
Annotation

Annotations

DescrptionSourceLinks
In independent samples, RGS2 markers, including rs4606, which has previously been associated with RG... DisGeNET Detail
We assessed whether distributions of 3 single nucleotide polymorphisms in genes coding for component... DisGeNET Detail
Hypertension after preeclampsia and relation to the C1114G polymorphism (rs4606) in RGS2: data from ... DisGeNET Detail
In this study, we investigated whether the rs4606 SNP in RGS2 alone also showed an effect on AIEPSs ... DisGeNET Detail
In independent samples, RGS2 markers, including rs4606, which has previously been associated with RG... DisGeNET Detail
Association analysis between functional polymorphism of the rs4606 SNP in the RGS2 gene and antipsyc... DisGeNET Detail
We assessed whether distributions of 3 single nucleotide polymorphisms in genes coding for component... DisGeNET Detail
Association analysis between functional polymorphism of the rs4606 SNP in the RGS2 gene and antipsyc... DisGeNET Detail
[Association analysis between functional polymorphism of the rs4606 SNP in the RGS2 gene and antipsy... 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
rs4606 dbSNP
Genome
hg38
Position
chr1:192,812,042-192,812,042
Variant Type
snv
Reference Allele
C
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))
rs4606
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.477
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7994
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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