chr7:74037810:G>A Detail (hg38) (ELN)

Information

Genome

Assembly Position
hg19 chr7:73,452,140-73,452,140 View the variant detail on this assembly version.
hg38 chr7:74,037,810-74,037,810

HGVS

Type Transcript Protein
RefSeq NM_000501.3:c.196+71G>A
NM_001081755.2:c.196+71G>A
NM_001278913.1:c.196+71G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.214
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
Type Database ID Link
Gene MIM 130160 OMIM
HGNC 3327 HGNC
Ensembl ENSG00000049540 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv29712759 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2015-03-03 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 macular degeneration In contrast, there were significant differences in the genotype distribution bet... BeFree 22065928 Detail
0.006 age related macular degeneration In contrast, there were significant differences in the genotype distribution bet... BeFree 22065928 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000501.4(ELN):c.196+71G>A AND not provided ClinVar Detail
In contrast, there were significant differences in the genotype distribution between the controls an... DisGeNET Detail
In contrast, there were significant differences in the genotype distribution between the controls an... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2301995 dbSNP
Genome
hg38
Position
chr7:74,037,810-74,037,810
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs2301995
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2143
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3591
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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