chr6:31910938:G>T Detail (hg19) (C2)

Information

Genome

Assembly Position
hg19 chr6:31,910,938-31,910,938
hg38 chr6:31,943,161-31,943,161 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000063.5:c.1360+62G>T
NM_001282458.1:c.1360+62G>T
NM_001145903.2:c.964+62G>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.096
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance protective
Review star
Show details
Links
Type Database ID Link
Gene MIM 613927 OMIM
HGNC 1248 HGNC
Ensembl ENSG00000166278 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv24804089 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
protective 2015-05-18 no assertion criteria provided age related macular degeneration 14 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.319 age related macular degeneration Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated ge... BeFree 23582991 Detail
0.480 age related macular degeneration Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated ge... BeFree 23582991 Detail
0.021 age related macular degeneration Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated ge... BeFree 23582991 Detail
0.005 age related macular degeneration Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated ge... BeFree 23582991 Detail
0.319 age related macular degeneration We performed an association analysis between PCV and polymorphisms across the C2... BeFree 19556007 Detail
0.125 age related macular degeneration The SKIV2L SNPs rs429608 and rs453821 were significantly associated with neovasc... BeFree 23260260 Detail
<0.001 macular degeneration The SKIV2L SNPs rs429608 and rs453821 were significantly associated with neovasc... BeFree 23260260 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000063.6(C2):c.1360+62G>T AND Age related macular degeneration 14 ClinVar Detail
Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated genes including CFH (r... DisGeNET Detail
Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated genes including CFH (r... DisGeNET Detail
Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated genes including CFH (r... DisGeNET Detail
Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated genes including CFH (r... DisGeNET Detail
We performed an association analysis between PCV and polymorphisms across the C2-CFB-RDBP-SKIV2L reg... DisGeNET Detail
The SKIV2L SNPs rs429608 and rs453821 were significantly associated with neovascular AMD (P = 7.39 ×... DisGeNET Detail
The SKIV2L SNPs rs429608 and rs453821 were significantly associated with neovascular AMD (P = 7.39 ×... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs547154 dbSNP
Genome
hg19
Position
chr6:31,910,938-31,910,938
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))
rs547154
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0961
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1610
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
Genome browser