chr12:6125723:C>T Detail (hg38) (VWF)

Information

Genome

Assembly Position
hg19 chr12:6,234,889-6,234,889 View the variant detail on this assembly version.
hg38 chr12:6,125,723-6,125,723

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.440
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
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-04-12 criteria provided, single submitter not provided germline Detail
Benign 2019-03-05 criteria provided, single submitter VWF-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.171 Metabolic syndrome X Of these SNPs, five SNPs were significantly associated with MetS (P < 0.05): ... BeFree 25646961 Detail
<0.001 Metabolic syndrome X Of these SNPs, five SNPs were significantly associated with MetS (P &lt; 0.05): ... BeFree 25646961 Detail
0.004 Metabolic syndrome X Of these SNPs, five SNPs were significantly associated with MetS (P &lt; 0.05): ... BeFree 25646961 Detail
<0.001 Metabolic syndrome X Of these SNPs, five SNPs were significantly associated with MetS (P &lt; 0.05): ... BeFree 25646961 Detail
<0.001 Metabolic syndrome X Of these SNPs, five SNPs were significantly associated with MetS (P &lt; 0.05): ... BeFree 25646961 Detail
0.004 Metabolic syndrome X Of these SNPs, five SNPs were significantly associated with MetS (P &lt; 0.05): ... BeFree 25646961 Detail
<0.001 Metabolic syndrome X Identification of an interaction between VWF rs7965413 and platelet count as a n... BeFree 25646961 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000552.3(VWF):c.-1303G>A AND not provided ClinVar Detail
NM_000552.3(VWF):c.-1303G>A AND VWF-related disorder ClinVar Detail
Of these SNPs, five SNPs were significantly associated with MetS (P &lt; 0.05): LRP2 rs2544390, rs18... DisGeNET Detail
Of these SNPs, five SNPs were significantly associated with MetS (P &lt; 0.05): LRP2 rs2544390, rs18... DisGeNET Detail
Of these SNPs, five SNPs were significantly associated with MetS (P &lt; 0.05): LRP2 rs2544390, rs18... DisGeNET Detail
Of these SNPs, five SNPs were significantly associated with MetS (P &lt; 0.05): LRP2 rs2544390, rs18... DisGeNET Detail
Of these SNPs, five SNPs were significantly associated with MetS (P &lt; 0.05): LRP2 rs2544390, rs18... DisGeNET Detail
Of these SNPs, five SNPs were significantly associated with MetS (P &lt; 0.05): LRP2 rs2544390, rs18... DisGeNET Detail
Identification of an interaction between VWF rs7965413 and platelet count as a novel risk marker for... DisGeNET Detail
Gene
-
dbSNP
rs7965413 dbSNP
Genome
hg38
Position
chr12:6,125,723-6,125,723
Variant Type
snv
Reference Allele
C
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))
rs7965413
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4401
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7376
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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