chr10:68232096:A>G Detail (hg38) (ATOH7)

Information

Genome

Assembly Position
hg19 chr10:69,991,853-69,991,853 View the variant detail on this assembly version.
hg38 chr10:68,232,096-68,232,096

HGVS

Type Transcript Protein
RefSeq NM_145178.3:c.-419T>C
Ensemble ENST00000373673.5:c.-419T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.663
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 609875 OMIM
HGNC 13907 HGNC
Ensembl ENSG00000179774 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv39626568 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
<0.001 Glaucoma, Primary Open Angle The minor allele of rs1063192 interacts with that of rs7916697 (ATOH7)) to reduc... BeFree 22761751 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_145178.4(ATOH7):c.-419T>C AND not provided ClinVar Detail
The minor allele of rs1063192 interacts with that of rs7916697 (ATOH7)) to reduce POAG risk. 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
rs7916697 dbSNP
Genome
hg38
Position
chr10:68,232,096-68,232,096
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))
rs7916697
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6626
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
11105
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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