chr1:163076561:G>T Detail (hg38) (RGS4)

Information

Genome

Assembly Position
hg19 chr1:163,046,351-163,046,351 View the variant detail on this assembly version.
hg38 chr1:163,076,561-163,076,561

HGVS

Type Transcript Protein
RefSeq NM_001113381.1:c.*2170G>T
NM_005613.5:c.*2001G>T
NM_001102445.2:c.*2001G>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.364
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 602516 OMIM
HGNC 10000 HGNC
Ensembl ENSG00000117152 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv3566294 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 Malignant neoplasm of urinary bladder Reference SNP 10759 (rs10759) on the RGS4 gene demonstrated the greatest associa... BeFree 23529717 Detail
0.123 schizophrenia Our results suggest that rs3219151 of GABRA6 was associated significantly to dec... BeFree 23332465 Detail
0.217 schizophrenia Our results suggest that rs3219151 of GABRA6 was associated significantly to dec... BeFree 23332465 Detail
<0.001 Carcinoma of bladder Reference SNP 10759 (rs10759) on the RGS4 gene demonstrated the greatest associa... BeFree 23529717 Detail
Annotation

Annotations

DescrptionSourceLinks
Reference SNP 10759 (rs10759) on the RGS4 gene demonstrated the greatest association with overall bl... DisGeNET Detail
Our results suggest that rs3219151 of GABRA6 was associated significantly to decrease the risk of sc... DisGeNET Detail
Our results suggest that rs3219151 of GABRA6 was associated significantly to decrease the risk of sc... DisGeNET Detail
Reference SNP 10759 (rs10759) on the RGS4 gene demonstrated the greatest association with overall bl... 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
rs10759 dbSNP
Genome
hg38
Position
chr1:163,076,561-163,076,561
Variant Type
snv
Reference Allele
G
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))
rs10759
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3641
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6103
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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