chr10:101139181:G>A Detail (hg19) (CNNM1)

Information

Genome

Assembly Position
hg19 chr10:101,139,181-101,139,181
hg38 chr10:99,379,424-99,379,424 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_020348.2:c.2340+2206G>A
Ensemble ENST00000356713.5:c.2340+2206G>A
ENST00000696687.1:c.2403+2206G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 607802 OMIM
HGNC 102 HGNC
Ensembl ENSG00000119946 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant 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 Diabetes Mellitus, Non-Insulin-Dependent Among women with magnesium intake in the lowest 30% (AA: ≤0.164 g/d; HA: ≤0.185 ... BeFree 25733456 Detail
<0.001 Diabetes Mellitus, Non-Insulin-Dependent Among women with magnesium intake in the lowest 30% (AA: ≤0.164 g/d; HA: ≤0.185 ... BeFree 25733456 Detail
<0.001 Diabetes Mellitus, Non-Insulin-Dependent Among women with magnesium intake in the lowest 30% (AA: ≤0.164 g/d; HA: ≤0.185 ... BeFree 25733456 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent Among women with magnesium intake in the lowest 30% (AA: ≤0.164 g/d; HA: ≤0.185 ... BeFree 25733456 Detail
Annotation

Annotations

DescrptionSourceLinks
Among women with magnesium intake in the lowest 30% (AA: ≤0.164 g/d; HA: ≤0.185 g/d), 4 SNP signals ... DisGeNET Detail
Among women with magnesium intake in the lowest 30% (AA: ≤0.164 g/d; HA: ≤0.185 g/d), 4 SNP signals ... DisGeNET Detail
Among women with magnesium intake in the lowest 30% (AA: ≤0.164 g/d; HA: ≤0.185 g/d), 4 SNP signals ... DisGeNET Detail
Among women with magnesium intake in the lowest 30% (AA: ≤0.164 g/d; HA: ≤0.185 g/d), 4 SNP signals ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs6584273 dbSNP
Genome
hg19
Position
chr10:101,139,181-101,139,181
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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