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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs780787117

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr16:15034486 (GRCh38.p13) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
C>A / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000004 (1/264690, TOPMED)
T=0.000012 (3/251482, GnomAD_exome)
T=0.000016 (2/121394, ExAC) (+ 2 more)
A=0.00000 (0/14050, ALFA)
T=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PDXDC1 : Synonymous Variant
Publications
0 citations
Genomic View
See rs on genome
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p13 chr 16 NC_000016.10:g.15034486C>A
GRCh38.p13 chr 16 NC_000016.10:g.15034486C>T
GRCh37.p13 chr 16 NC_000016.9:g.15128343C>A
GRCh37.p13 chr 16 NC_000016.9:g.15128343C>T
GRCh38.p13 chr 16 alt locus HSCHR16_1_CTG1 NT_187607.1:g.635203G>T
GRCh38.p13 chr 16 alt locus HSCHR16_1_CTG1 NT_187607.1:g.635203G>A
Gene: PDXDC1, pyridoxal dependent decarboxylase domain containing 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PDXDC1 transcript variant 6 NM_001285449.2:c.1399+443…

NM_001285449.2:c.1399+4430C>A

N/A Intron Variant
PDXDC1 transcript variant 9 NM_001324020.2:c.1396+443…

NM_001324020.2:c.1396+4430C>A

N/A Intron Variant
PDXDC1 transcript variant 10 NM_001324021.2:c.1318+443…

NM_001324021.2:c.1318+4430C>A

N/A Intron Variant
PDXDC1 transcript variant 7 NM_001285450.2:c. N/A Genic Downstream Transcript Variant
PDXDC1 transcript variant 5 NM_001285448.1:c.1662C>A G [GGC] > G [GGA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 5 NP_001272377.1:p.Gly554= G (Gly) > G (Gly) Synonymous Variant
PDXDC1 transcript variant 5 NM_001285448.1:c.1662C>T G [GGC] > G [GGT] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 5 NP_001272377.1:p.Gly554= G (Gly) > G (Gly) Synonymous Variant
PDXDC1 transcript variant 4 NM_001285447.1:c.1890C>A G [GGC] > G [GGA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 4 NP_001272376.1:p.Gly630= G (Gly) > G (Gly) Synonymous Variant
PDXDC1 transcript variant 4 NM_001285447.1:c.1890C>T G [GGC] > G [GGT] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 4 NP_001272376.1:p.Gly630= G (Gly) > G (Gly) Synonymous Variant
PDXDC1 transcript variant 1 NM_015027.4:c.1935C>A G [GGC] > G [GGA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 1 NP_055842.2:p.Gly645= G (Gly) > G (Gly) Synonymous Variant
PDXDC1 transcript variant 1 NM_015027.4:c.1935C>T G [GGC] > G [GGT] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 1 NP_055842.2:p.Gly645= G (Gly) > G (Gly) Synonymous Variant
PDXDC1 transcript variant 3 NM_001285445.2:c.1851C>A G [GGC] > G [GGA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 3 NP_001272374.1:p.Gly617= G (Gly) > G (Gly) Synonymous Variant
PDXDC1 transcript variant 3 NM_001285445.2:c.1851C>T G [GGC] > G [GGT] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 3 NP_001272374.1:p.Gly617= G (Gly) > G (Gly) Synonymous Variant
PDXDC1 transcript variant 2 NM_001285444.2:c.1854C>A G [GGC] > G [GGA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 2 NP_001272373.1:p.Gly618= G (Gly) > G (Gly) Synonymous Variant
PDXDC1 transcript variant 2 NM_001285444.2:c.1854C>T G [GGC] > G [GGT] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 2 NP_001272373.1:p.Gly618= G (Gly) > G (Gly) Synonymous Variant
PDXDC1 transcript variant 8 NM_001324019.2:c.1932C>A G [GGC] > G [GGA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 8 NP_001310948.1:p.Gly644= G (Gly) > G (Gly) Synonymous Variant
PDXDC1 transcript variant 8 NM_001324019.2:c.1932C>T G [GGC] > G [GGT] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 8 NP_001310948.1:p.Gly644= G (Gly) > G (Gly) Synonymous Variant
PDXDC1 transcript variant X10 XM_017023065.1:c.1354+443…

XM_017023065.1:c.1354+4430C>A

N/A Intron Variant
PDXDC1 transcript variant X11 XM_024450194.1:c.1354+443…

XM_024450194.1:c.1354+4430C>A

N/A Intron Variant
PDXDC1 transcript variant X12 XM_024450195.1:c.1453+443…

XM_024450195.1:c.1453+4430C>A

N/A Intron Variant
PDXDC1 transcript variant X13 XM_024450196.1:c.1426+443…

XM_024450196.1:c.1426+4430C>A

N/A Intron Variant
PDXDC1 transcript variant X14 XM_024450197.1:c.1273+443…

XM_024450197.1:c.1273+4430C>A

N/A Intron Variant
PDXDC1 transcript variant X4 XM_006720865.2:c.1809C>A G [GGC] > G [GGA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X4 XP_006720928.2:p.Gly603= G (Gly) > G (Gly) Synonymous Variant
PDXDC1 transcript variant X4 XM_006720865.2:c.1809C>T G [GGC] > G [GGT] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X4 XP_006720928.2:p.Gly603= G (Gly) > G (Gly) Synonymous Variant
PDXDC1 transcript variant X1 XM_017023059.1:c.1890C>A G [GGC] > G [GGA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X1 XP_016878548.1:p.Gly630= G (Gly) > G (Gly) Synonymous Variant
PDXDC1 transcript variant X1 XM_017023059.1:c.1890C>T G [GGC] > G [GGT] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X1 XP_016878548.1:p.Gly630= G (Gly) > G (Gly) Synonymous Variant
PDXDC1 transcript variant X3 XM_017023060.1:c.1962C>A G [GGC] > G [GGA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X3 XP_016878549.1:p.Gly654= G (Gly) > G (Gly) Synonymous Variant
PDXDC1 transcript variant X3 XM_017023060.1:c.1962C>T G [GGC] > G [GGT] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X3 XP_016878549.1:p.Gly654= G (Gly) > G (Gly) Synonymous Variant
PDXDC1 transcript variant X7 XM_017023062.1:c.1890C>A G [GGC] > G [GGA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X1 XP_016878551.1:p.Gly630= G (Gly) > G (Gly) Synonymous Variant
PDXDC1 transcript variant X7 XM_017023062.1:c.1890C>T G [GGC] > G [GGT] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X1 XP_016878551.1:p.Gly630= G (Gly) > G (Gly) Synonymous Variant
PDXDC1 transcript variant X8 XM_017023063.1:c.1890C>A G [GGC] > G [GGA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X5 XP_016878552.1:p.Gly630= G (Gly) > G (Gly) Synonymous Variant
PDXDC1 transcript variant X8 XM_017023063.1:c.1890C>T G [GGC] > G [GGT] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X5 XP_016878552.1:p.Gly630= G (Gly) > G (Gly) Synonymous Variant
PDXDC1 transcript variant X9 XM_017023064.1:c.1809C>A G [GGC] > G [GGA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X4 XP_016878553.1:p.Gly603= G (Gly) > G (Gly) Synonymous Variant
PDXDC1 transcript variant X9 XM_017023064.1:c.1809C>T G [GGC] > G [GGT] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X4 XP_016878553.1:p.Gly603= G (Gly) > G (Gly) Synonymous Variant
PDXDC1 transcript variant X5 XM_005255176.3:c.1890C>A G [GGC] > G [GGA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X1 XP_005255233.1:p.Gly630= G (Gly) > G (Gly) Synonymous Variant
PDXDC1 transcript variant X5 XM_005255176.3:c.1890C>T G [GGC] > G [GGT] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X1 XP_005255233.1:p.Gly630= G (Gly) > G (Gly) Synonymous Variant
PDXDC1 transcript variant X6 XM_017023061.2:c.1890C>A G [GGC] > G [GGA] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X1 XP_016878550.1:p.Gly630= G (Gly) > G (Gly) Synonymous Variant
PDXDC1 transcript variant X6 XM_017023061.2:c.1890C>T G [GGC] > G [GGT] Coding Sequence Variant
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X1 XP_016878550.1:p.Gly630= G (Gly) > G (Gly) Synonymous Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 14050 C=1.00000 A=0.00000, T=0.00000
European Sub 9690 C=1.0000 A=0.0000, T=0.0000
African Sub 2898 C=1.0000 A=0.0000, T=0.0000
African Others Sub 114 C=1.000 A=0.000, T=0.000
African American Sub 2784 C=1.0000 A=0.0000, T=0.0000
Asian Sub 112 C=1.000 A=0.000, T=0.000
East Asian Sub 86 C=1.00 A=0.00, T=0.00
Other Asian Sub 26 C=1.00 A=0.00, T=0.00
Latin American 1 Sub 146 C=1.000 A=0.000, T=0.000
Latin American 2 Sub 610 C=1.000 A=0.000, T=0.000
South Asian Sub 98 C=1.00 A=0.00, T=0.00
Other Sub 496 C=1.000 A=0.000, T=0.000


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 C=0.999996 T=0.000004
gnomAD - Exomes Global Study-wide 251482 C=0.999988 T=0.000012
gnomAD - Exomes European Sub 135408 C=0.999978 T=0.000022
gnomAD - Exomes Asian Sub 49010 C=1.00000 T=0.00000
gnomAD - Exomes American Sub 34590 C=1.00000 T=0.00000
gnomAD - Exomes African Sub 16256 C=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10080 C=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6138 C=1.0000 T=0.0000
ExAC Global Study-wide 121394 C=0.999984 T=0.000016
ExAC Europe Sub 73340 C=0.99997 T=0.00003
ExAC Asian Sub 25166 C=1.00000 T=0.00000
ExAC American Sub 11576 C=1.00000 T=0.00000
ExAC African Sub 10404 C=1.00000 T=0.00000
ExAC Other Sub 908 C=1.000 T=0.000
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement C= A T
GRCh38.p13 chr 16 NC_000016.10:g.15034486= NC_000016.10:g.15034486C>A NC_000016.10:g.15034486C>T
GRCh37.p13 chr 16 NC_000016.9:g.15128343= NC_000016.9:g.15128343C>A NC_000016.9:g.15128343C>T
GRCh38.p13 chr 16 alt locus HSCHR16_1_CTG1 NT_187607.1:g.635203= NT_187607.1:g.635203G>T NT_187607.1:g.635203G>A
PDXDC1 transcript variant 1 NM_015027.4:c.1935= NM_015027.4:c.1935C>A NM_015027.4:c.1935C>T
PDXDC1 transcript variant 1 NM_015027.3:c.1935= NM_015027.3:c.1935C>A NM_015027.3:c.1935C>T
PDXDC1 transcript NM_015027.2:c.1935= NM_015027.2:c.1935C>A NM_015027.2:c.1935C>T
PDXDC1 transcript variant X5 XM_005255176.3:c.1890= XM_005255176.3:c.1890C>A XM_005255176.3:c.1890C>T
PDXDC1 transcript variant X4 XM_005255176.1:c.1890= XM_005255176.1:c.1890C>A XM_005255176.1:c.1890C>T
PDXDC1 transcript variant 8 NM_001324019.2:c.1932= NM_001324019.2:c.1932C>A NM_001324019.2:c.1932C>T
PDXDC1 transcript variant 8 NM_001324019.1:c.1932= NM_001324019.1:c.1932C>A NM_001324019.1:c.1932C>T
PDXDC1 transcript variant 2 NM_001285444.2:c.1854= NM_001285444.2:c.1854C>A NM_001285444.2:c.1854C>T
PDXDC1 transcript variant 2 NM_001285444.1:c.1854= NM_001285444.1:c.1854C>A NM_001285444.1:c.1854C>T
PDXDC1 transcript variant 3 NM_001285445.2:c.1851= NM_001285445.2:c.1851C>A NM_001285445.2:c.1851C>T
PDXDC1 transcript variant 3 NM_001285445.1:c.1851= NM_001285445.1:c.1851C>A NM_001285445.1:c.1851C>T
PDXDC1 transcript variant X6 XM_017023061.2:c.1890= XM_017023061.2:c.1890C>A XM_017023061.2:c.1890C>T
PDXDC1 transcript variant X4 XM_006720865.2:c.1809= XM_006720865.2:c.1809C>A XM_006720865.2:c.1809C>T
PDXDC1 transcript variant 5 NM_001285448.1:c.1662= NM_001285448.1:c.1662C>A NM_001285448.1:c.1662C>T
PDXDC1 transcript variant 4 NM_001285447.1:c.1890= NM_001285447.1:c.1890C>A NM_001285447.1:c.1890C>T
PDXDC1 transcript variant X3 XM_017023060.1:c.1962= XM_017023060.1:c.1962C>A XM_017023060.1:c.1962C>T
PDXDC1 transcript variant X7 XM_017023062.1:c.1890= XM_017023062.1:c.1890C>A XM_017023062.1:c.1890C>T
PDXDC1 transcript variant X1 XM_017023059.1:c.1890= XM_017023059.1:c.1890C>A XM_017023059.1:c.1890C>T
PDXDC1 transcript variant X9 XM_017023064.1:c.1809= XM_017023064.1:c.1809C>A XM_017023064.1:c.1809C>T
PDXDC1 transcript variant X8 XM_017023063.1:c.1890= XM_017023063.1:c.1890C>A XM_017023063.1:c.1890C>T
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 1 NP_055842.2:p.Gly645= NP_055842.2:p.Gly645= NP_055842.2:p.Gly645=
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X1 XP_005255233.1:p.Gly630= XP_005255233.1:p.Gly630= XP_005255233.1:p.Gly630=
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 8 NP_001310948.1:p.Gly644= NP_001310948.1:p.Gly644= NP_001310948.1:p.Gly644=
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 2 NP_001272373.1:p.Gly618= NP_001272373.1:p.Gly618= NP_001272373.1:p.Gly618=
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 3 NP_001272374.1:p.Gly617= NP_001272374.1:p.Gly617= NP_001272374.1:p.Gly617=
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X1 XP_016878550.1:p.Gly630= XP_016878550.1:p.Gly630= XP_016878550.1:p.Gly630=
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X4 XP_006720928.2:p.Gly603= XP_006720928.2:p.Gly603= XP_006720928.2:p.Gly603=
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 5 NP_001272377.1:p.Gly554= NP_001272377.1:p.Gly554= NP_001272377.1:p.Gly554=
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 4 NP_001272376.1:p.Gly630= NP_001272376.1:p.Gly630= NP_001272376.1:p.Gly630=
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X3 XP_016878549.1:p.Gly654= XP_016878549.1:p.Gly654= XP_016878549.1:p.Gly654=
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X1 XP_016878551.1:p.Gly630= XP_016878551.1:p.Gly630= XP_016878551.1:p.Gly630=
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X1 XP_016878548.1:p.Gly630= XP_016878548.1:p.Gly630= XP_016878548.1:p.Gly630=
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X4 XP_016878553.1:p.Gly603= XP_016878553.1:p.Gly603= XP_016878553.1:p.Gly603=
pyridoxal-dependent decarboxylase domain-containing protein 1 isoform X5 XP_016878552.1:p.Gly630= XP_016878552.1:p.Gly630= XP_016878552.1:p.Gly630=
PDXDC1 transcript variant 6 NM_001285449.2:c.1399+4430= NM_001285449.2:c.1399+4430C>A NM_001285449.2:c.1399+4430C>T
PDXDC1 transcript variant 9 NM_001324020.2:c.1396+4430= NM_001324020.2:c.1396+4430C>A NM_001324020.2:c.1396+4430C>T
PDXDC1 transcript variant 10 NM_001324021.2:c.1318+4430= NM_001324021.2:c.1318+4430C>A NM_001324021.2:c.1318+4430C>T
PDXDC1 transcript variant X10 XM_017023065.1:c.1354+4430= XM_017023065.1:c.1354+4430C>A XM_017023065.1:c.1354+4430C>T
PDXDC1 transcript variant X11 XM_024450194.1:c.1354+4430= XM_024450194.1:c.1354+4430C>A XM_024450194.1:c.1354+4430C>T
PDXDC1 transcript variant X12 XM_024450195.1:c.1453+4430= XM_024450195.1:c.1453+4430C>A XM_024450195.1:c.1453+4430C>T
PDXDC1 transcript variant X13 XM_024450196.1:c.1426+4430= XM_024450196.1:c.1426+4430C>A XM_024450196.1:c.1426+4430C>T
PDXDC1 transcript variant X14 XM_024450197.1:c.1273+4430= XM_024450197.1:c.1273+4430C>A XM_024450197.1:c.1273+4430C>T
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

7 SubSNP, 6 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1692168596 Apr 01, 2015 (144)
2 HUMAN_LONGEVITY ss2210985399 Dec 20, 2016 (150)
3 GNOMAD ss2741772469 Nov 08, 2017 (151)
4 TOPMED ss3241249700 Nov 08, 2017 (151)
5 GNOMAD ss4297646128 Apr 27, 2021 (155)
6 GNOMAD ss4297646129 Apr 27, 2021 (155)
7 TOPMED ss5009302498 Apr 27, 2021 (155)
8 ExAC NC_000016.9 - 15128343 Oct 12, 2018 (152)
9 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 484139783 (NC_000016.10:15034485:C:A 1/140268)
Row 484139784 (NC_000016.10:15034485:C:T 1/140268)

- Apr 27, 2021 (155)
10 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 484139783 (NC_000016.10:15034485:C:A 1/140268)
Row 484139784 (NC_000016.10:15034485:C:T 1/140268)

- Apr 27, 2021 (155)
11 gnomAD - Exomes NC_000016.9 - 15128343 Jul 13, 2019 (153)
12 TopMed NC_000016.10 - 15034486 Apr 27, 2021 (155)
13 ALFA NC_000016.10 - 15034486 Apr 27, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
7784172642, ss2210985399, ss4297646128 NC_000016.10:15034485:C:A NC_000016.10:15034485:C:A (self)
2566235, 11049723, ss1692168596, ss2741772469 NC_000016.9:15128342:C:T NC_000016.10:15034485:C:T (self)
140536762, 224848159, 7784172642, ss3241249700, ss4297646129, ss5009302498 NC_000016.10:15034485:C:T NC_000016.10:15034485:C:T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs780787117

Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post596+ae089ad