chr19:35281996:A>G Detail (hg38) (HAMP)

Information

Genome

Assembly Position
hg19 chr19:35,772,899-35,772,899 View the variant detail on this assembly version.
hg38 chr19:35,281,996-35,281,996

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000598398.5:c.-84-498A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.048
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 606464 OMIM
HGNC 15598 HGNC
Ensembl ENSG00000105697 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv61901685 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-01-18 criteria provided, single submitter Hereditary hemochromatosis germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 Hereditary hemochromatosis Our results make it likely the role of rs10421768, rs235756, rs2230267 and rs143... BeFree 25976471 Detail
<0.001 Hereditary hemochromatosis We investigated 6 polymorphisms (rs10421768 in HAMP gene, rs235756 in BMP2 gene,... BeFree 25976471 Detail
0.125 Hereditary hemochromatosis We investigated 6 polymorphisms (rs10421768 in HAMP gene, rs235756 in BMP2 gene,... BeFree 25976471 Detail
Annotation

Annotations

DescrptionSourceLinks
NC_000019.10:g.35281996A>G AND Hereditary hemochromatosis ClinVar Detail
Our results make it likely the role of rs10421768, rs235756, rs2230267 and rs1439816 polymorphisms, ... DisGeNET Detail
We investigated 6 polymorphisms (rs10421768 in HAMP gene, rs235756 in BMP2 gene, rs2230267 in FTL ge... DisGeNET Detail
We investigated 6 polymorphisms (rs10421768 in HAMP gene, rs235756 in BMP2 gene, rs2230267 in FTL ge... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs10421768 dbSNP
Genome
hg38
Position
chr19:35,281,996-35,281,996
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))
rs10421768
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.048
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
805
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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