chr1:196729815:G>T Detail (hg38) (CFH)

Information

Genome

Assembly Position
hg19 chr1:196,698,945-196,698,945 View the variant detail on this assembly version.
hg38 chr1:196,729,815-196,729,815

HGVS

Type Transcript Protein
RefSeq NM_000186.3:c.2413+1293G>T
Ensemble ENST00000367429.9:c.2413+1293G>T
ENST00000695969.1:c.2413+1293G>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.049
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 134370 OMIM
HGNC 4883 HGNC
Ensembl ENSG00000000971 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv4308292 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 Lower C3d/C3 ratios were found for diabetes (p = 2.87 × 10(-6)), higher body mas... BeFree 24675670 Detail
<0.001 Diabetes Lower C3d/C3 ratios were found for diabetes (p = 2.87 × 10(-6)), higher body mas... BeFree 24675670 Detail
<0.001 diabetes mellitus Lower C3d/C3 ratios were found for diabetes (p = 2.87 × 10(-6)), higher body mas... BeFree 24675670 Detail
<0.001 Diabetes Lower C3d/C3 ratios were found for diabetes (p = 2.87 × 10(-6)), higher body mas... BeFree 24675670 Detail
Annotation

Annotations

DescrptionSourceLinks
Lower C3d/C3 ratios were found for diabetes (p = 2.87 × 10(-6)), higher body mass index (p = 1.00 × ... DisGeNET Detail
Lower C3d/C3 ratios were found for diabetes (p = 2.87 × 10(-6)), higher body mass index (p = 1.00 × ... DisGeNET Detail
Lower C3d/C3 ratios were found for diabetes (p = 2.87 × 10(-6)), higher body mass index (p = 1.00 × ... DisGeNET Detail
Lower C3d/C3 ratios were found for diabetes (p = 2.87 × 10(-6)), higher body mass index (p = 1.00 × ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs12144939 dbSNP
Genome
hg38
Position
chr1:196,729,815-196,729,815
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))
rs12144939
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0485
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
813
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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