chr1:196854483:A>G Detail (hg38)

Information

Genome

Assembly Position
hg19 chr1:196,823,613-196,823,613 View the variant detail on this assembly version.
hg38 chr1:196,854,483-196,854,483

HGVS

[No Data.]
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
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.021 age related macular degeneration We genotyped three SNPs in the CFH gene cluster that are closely linked to age-r... BeFree 22848687 Detail
0.480 age related macular degeneration We genotyped three SNPs in the CFH gene cluster that are closely linked to age-r... BeFree 22848687 Detail
Annotation

Annotations

DescrptionSourceLinks
We genotyped three SNPs in the CFH gene cluster that are closely linked to age-related macular degen... DisGeNET Detail
We genotyped three SNPs in the CFH gene cluster that are closely linked to age-related macular degen... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs7542235 dbSNP
Genome
hg38
Position
chr1:196,854,483-196,854,483
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs7542235
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0486
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
815
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16754
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