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

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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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

CFH

Type	Transcript	Protein
RefSeq	NM_000186.3:c.2413+1293G>A
Ensemble	ENST00000367429.9:c.2413+1293G>A
	ENST00000695969.1:c.2413+1293G>A
	ENST00000695970.1:c.2413+1293G>A
	ENST00000695971.1:c.2392+1293G>A
	ENST00000695974.1:c.2236+1293G>A
	ENST00000695976.1:c.2224+1293G>A
	ENST00000695981.1:c.2413+1293G>A
	ENST00000695984.1:c.421+1293G>A
	ENST00000696027.1:c.2407+1293G>A
	ENST00000696028.1:c.2413+1293G>A
	ENST00000696029.1:c.2413+1293G>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.]
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Links

CFH

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	tgv243415138	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

Descrption	Source	Links
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: A

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