chr10:81701722:T>C Detail (hg19) (SFTPD)

Information

Genome

Assembly Position
hg19 chr10:81,701,722-81,701,722
hg38 chr10:79,941,966-79,941,966 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_003019.4:c.538A>G NP_003010.4:p.Thr180Ala
Ensemble ENST00000372292.8:c.538A>G ENST00000372292.8:p.Thr180Ala
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.716
ToMMo:0.716
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.804

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 178635 OMIM
HGNC 10803 HGNC
Ensembl ENSG00000133661 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv39923104 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2015-05-08 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign 2018-11-12 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.014 Chronic Obstructive Airway Disease Genetic polymorphisms of surfactant protein D rs2243639, Interleukin (IL)-1β rs1... BeFree 24504887 Detail
0.021 Chronic Obstructive Airway Disease The primary aim of this study was to investigate the association between surfact... BeFree 24504887 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_003019.5(SFTPD):c.538A>G (p.Thr180Ala) AND not specified ClinVar Detail
NM_003019.5(SFTPD):c.538A>G (p.Thr180Ala) AND not provided ClinVar Detail
Genetic polymorphisms of surfactant protein D rs2243639, Interleukin (IL)-1β rs16944 and IL-1RN rs22... DisGeNET Detail
The primary aim of this study was to investigate the association between surfactant protein D (SFTPD... 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
rs2243639 dbSNP
Genome
hg19
Position
chr10:81,701,722-81,701,722
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1207
Mean of sample read depth (HGVD)
43.91
Standard deviation of sample read depth (HGVD)
20.06
Number of reference allele (HGVD)
685
Number of alternative allele (HGVD)
1728
Allele Frequency (HGVD)
0.7161210111893908
Gene Symbol (HGVD)
SFTPD
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))
rs2243639
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.7158
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
11996
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Homozygous Counts (ExAC)
2774
East Asian Chromosome Counts (ExAC)
8646
East Asian Allele Counts (ExAC)
6953
East Asian Heterozygous Counts (ExAC)
1405
East Asian Allele Frequency (ExAC)
0.8041869072403424
Chromosome Counts in All Race (ExAC)
121258
Allele Counts in All Race (ExAC)
80455
Heterozygous Counts in All Race (ExAC)
25801
Homozygous Counts in All Race (ExAC)
27327
Allele Frequency in All Race (ExAC)
0.6635026142605024
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