chr6:31952179:T>C Detail (hg38) (CFB, NELFE)

Information

Genome

Assembly Position
hg19 chr6:31,919,956-31,919,956 View the variant detail on this assembly version.
hg38 chr6:31,952,179-31,952,179

HGVS

Type Transcript Protein
RefSeq NM_002904.5:c.*122A>G
Ensemble ENST00000375429.8:c.*122A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.097
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 154040 OMIM
HGNC 13974 HGNC
Ensembl ENSG00000204356 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv24805130 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-11-10 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
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_002904.6(NELFE):c.*122A>G AND not provided ClinVar 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 Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs760070 dbSNP
Genome
hg38
Position
chr6:31,952,179-31,952,179
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs760070
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0966
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1619
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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