chr10:52771925:G>C Detail (hg38) (MBL2)

Information

Genome

Assembly Position
hg19 chr10:54,531,685-54,531,685 View the variant detail on this assembly version.
hg38 chr10:52,771,925-52,771,925

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000674931.1:c.-9-281C>G
ENST00000675947.1:c.-24-266C>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.882
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 154545 OMIM
HGNC 6922 HGNC
Ensembl ENSG00000165471 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv39300778 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 vascular disease occlusive All subjects were genotyped for 13 polymorphic variants in the genes of xenobiot... BeFree 23107763 Detail
0.337 hyperhomocysteinemia All subjects were genotyped for 13 polymorphic variants in the genes of xenobiot... BeFree 23107763 Detail
<0.001 hyperhomocysteinemia All subjects were genotyped for 13 polymorphic variants in the genes of xenobiot... BeFree 23107763 Detail
0.146 Homocysteinemia All subjects were genotyped for 13 polymorphic variants in the genes of xenobiot... BeFree 23107763 Detail
<0.001 Homocysteinemia All subjects were genotyped for 13 polymorphic variants in the genes of xenobiot... BeFree 23107763 Detail
<0.001 peritonitis We genotyped and analyzed 4 important MBL2 single nucleotide polymorphisms (SNPs... BeFree 25969530 Detail
0.001 Community acquired pneumonia We genotyped and analyzed 4 important MBL2 single nucleotide polymorphisms (SNPs... BeFree 25969530 Detail
Annotation

Annotations

DescrptionSourceLinks
All subjects were genotyped for 13 polymorphic variants in the genes of xenobiotics detoxification C... DisGeNET Detail
All subjects were genotyped for 13 polymorphic variants in the genes of xenobiotics detoxification C... DisGeNET Detail
All subjects were genotyped for 13 polymorphic variants in the genes of xenobiotics detoxification C... DisGeNET Detail
All subjects were genotyped for 13 polymorphic variants in the genes of xenobiotics detoxification C... DisGeNET Detail
All subjects were genotyped for 13 polymorphic variants in the genes of xenobiotics detoxification C... DisGeNET Detail
We genotyped and analyzed 4 important MBL2 single nucleotide polymorphisms (SNPs; rs5030737, rs18004... DisGeNET Detail
We genotyped and analyzed 4 important MBL2 single nucleotide polymorphisms (SNPs; rs5030737, rs18004... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs7096206 dbSNP
Genome
hg38
Position
chr10:52,771,925-52,771,925
Variant Type
snv
Reference Allele
G
Alternative Allele
C
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))
rs7096206
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.8823
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
14787
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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