chrX:136644791:A>G Detail (hg38)

Information

Genome

Assembly Position
hg19 chrX:135,726,950-135,726,950 View the variant detail on this assembly version.
hg38 chrX:136,644,791-136,644,791

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.117
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2022-09-13 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.006 rheumatoid arthritis One thousand five hundred and seventy-five patients fulfilling the 1987 ACR clas... BeFree 23166616 Detail
Annotation

Annotations

DescrptionSourceLinks
NC_000023.11:g.136644791A>G AND not provided ClinVar Detail
One thousand five hundred and seventy-five patients fulfilling the 1987 ACR classification criteria ... DisGeNET Detail
Gene
-
dbSNP
rs3092952 dbSNP
Genome
hg38
Position
chrX:136,644,791-136,644,791
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))
rs3092952
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1174
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1508
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
12843
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