Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs756522817

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:42472169 (GRCh38.p14) 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
G>A / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000023 (6/264690, TOPMED)
T=0.000024 (6/251488, GnomAD_exome)
T=0.000029 (4/140238, GnomAD) (+ 4 more)
T=0.000008 (1/121412, ExAC)
T=0.00005 (2/44420, ALFA)
T=0.0003 (1/3854, ALSPAC)
T=0.0003 (1/3708, TWINSUK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SLC20A2 : Synonymous Variant
Publications
0 citations
Genomic View
See rs on genome

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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 60782 G=0.99993 A=0.00000, T=0.00007
European Sub 42740 G=0.99995 A=0.00000, T=0.00005
African Sub 8350 G=0.9998 A=0.0000, T=0.0002
African Others Sub 306 G=1.000 A=0.000, T=0.000
African American Sub 8044 G=0.9998 A=0.0000, T=0.0002
Asian Sub 168 G=1.000 A=0.000, T=0.000
East Asian Sub 112 G=1.000 A=0.000, T=0.000
Other Asian Sub 56 G=1.00 A=0.00, T=0.00
Latin American 1 Sub 500 G=1.000 A=0.000, T=0.000
Latin American 2 Sub 628 G=1.000 A=0.000, T=0.000
South Asian Sub 98 G=1.00 A=0.00, T=0.00
Other Sub 8298 G=1.0000 A=0.0000, T=0.0000


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 G=0.999977 T=0.000023
gnomAD - Exomes Global Study-wide 251488 G=0.999976 T=0.000024
gnomAD - Exomes European Sub 135412 G=0.999963 T=0.000037
gnomAD - Exomes Asian Sub 49010 G=1.00000 T=0.00000
gnomAD - Exomes American Sub 34592 G=1.00000 T=0.00000
gnomAD - Exomes African Sub 16256 G=0.99994 T=0.00006
gnomAD - Exomes Ashkenazi Jewish Sub 10080 G=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6138 G=1.0000 T=0.0000
gnomAD - Genomes Global Study-wide 140238 G=0.999971 T=0.000029
gnomAD - Genomes European Sub 75944 G=0.99999 T=0.00001
gnomAD - Genomes African Sub 42044 G=0.99995 T=0.00005
gnomAD - Genomes American Sub 13644 G=1.00000 T=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3134 G=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2150 G=0.9995 T=0.0005
ExAC Global Study-wide 121412 G=0.999992 T=0.000008
ExAC Europe Sub 73354 G=0.99999 T=0.00001
ExAC Asian Sub 25166 G=1.00000 T=0.00000
ExAC American Sub 11578 G=1.00000 T=0.00000
ExAC African Sub 10406 G=1.00000 T=0.00000
ExAC Other Sub 908 G=1.000 T=0.000
Allele Frequency Aggregator Total Global 44420 G=0.99995 A=0.00000, T=0.00005
Allele Frequency Aggregator European Sub 32650 G=0.99994 A=0.00000, T=0.00006
Allele Frequency Aggregator Other Sub 6864 G=1.0000 A=0.0000, T=0.0000
Allele Frequency Aggregator African Sub 3512 G=1.0000 A=0.0000, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 628 G=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 500 G=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 168 G=1.000 A=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 98 G=1.00 A=0.00, T=0.00
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9997 T=0.0003
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9997 T=0.0003
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.p14 chr 8 NC_000008.11:g.42472169G>A
GRCh38.p14 chr 8 NC_000008.11:g.42472169G>T
GRCh37.p13 chr 8 NC_000008.10:g.42329687G>A
GRCh37.p13 chr 8 NC_000008.10:g.42329687G>T
SLC20A2 RefSeqGene NG_032161.1:g.72670C>T
SLC20A2 RefSeqGene NG_032161.1:g.72670C>A
Gene: SLC20A2, solute carrier family 20 member 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
SLC20A2 transcript variant 1 NM_001257180.2:c.222C>T I [ATC] > I [ATT] Coding Sequence Variant
sodium-dependent phosphate transporter 2 NP_001244109.1:p.Ile74= I (Ile) > I (Ile) Synonymous Variant
SLC20A2 transcript variant 1 NM_001257180.2:c.222C>A I [ATC] > I [ATA] Coding Sequence Variant
sodium-dependent phosphate transporter 2 NP_001244109.1:p.Ile74= I (Ile) > I (Ile) Synonymous Variant
SLC20A2 transcript variant 2 NM_006749.5:c.222C>T I [ATC] > I [ATT] Coding Sequence Variant
sodium-dependent phosphate transporter 2 NP_006740.1:p.Ile74= I (Ile) > I (Ile) Synonymous Variant
SLC20A2 transcript variant 2 NM_006749.5:c.222C>A I [ATC] > I [ATA] Coding Sequence Variant
sodium-dependent phosphate transporter 2 NP_006740.1:p.Ile74= I (Ile) > I (Ile) Synonymous Variant
SLC20A2 transcript variant 3 NM_001257181.2:c.222C>T I [ATC] > I [ATT] Coding Sequence Variant
sodium-dependent phosphate transporter 2 NP_001244110.1:p.Ile74= I (Ile) > I (Ile) Synonymous Variant
SLC20A2 transcript variant 3 NM_001257181.2:c.222C>A I [ATC] > I [ATA] Coding Sequence Variant
sodium-dependent phosphate transporter 2 NP_001244110.1:p.Ile74= I (Ile) > I (Ile) Synonymous Variant
SLC20A2 transcript variant X13 XM_017013752.3:c.-325= N/A 5 Prime UTR Variant
SLC20A2 transcript variant X1 XM_005273613.4:c.222C>T I [ATC] > I [ATT] Coding Sequence Variant
sodium-dependent phosphate transporter 2 isoform X1 XP_005273670.1:p.Ile74= I (Ile) > I (Ile) Synonymous Variant
SLC20A2 transcript variant X1 XM_005273613.4:c.222C>A I [ATC] > I [ATA] Coding Sequence Variant
sodium-dependent phosphate transporter 2 isoform X1 XP_005273670.1:p.Ile74= I (Ile) > I (Ile) Synonymous Variant
SLC20A2 transcript variant X2 XM_017013748.2:c.222C>T I [ATC] > I [ATT] Coding Sequence Variant
sodium-dependent phosphate transporter 2 isoform X1 XP_016869237.1:p.Ile74= I (Ile) > I (Ile) Synonymous Variant
SLC20A2 transcript variant X2 XM_017013748.2:c.222C>A I [ATC] > I [ATA] Coding Sequence Variant
sodium-dependent phosphate transporter 2 isoform X1 XP_016869237.1:p.Ile74= I (Ile) > I (Ile) Synonymous Variant
SLC20A2 transcript variant X3 XM_024447235.2:c.222C>T I [ATC] > I [ATT] Coding Sequence Variant
sodium-dependent phosphate transporter 2 isoform X1 XP_024303003.1:p.Ile74= I (Ile) > I (Ile) Synonymous Variant
SLC20A2 transcript variant X3 XM_024447235.2:c.222C>A I [ATC] > I [ATA] Coding Sequence Variant
sodium-dependent phosphate transporter 2 isoform X1 XP_024303003.1:p.Ile74= I (Ile) > I (Ile) Synonymous Variant
SLC20A2 transcript variant X4 XM_024447236.2:c.222C>T I [ATC] > I [ATT] Coding Sequence Variant
sodium-dependent phosphate transporter 2 isoform X1 XP_024303004.1:p.Ile74= I (Ile) > I (Ile) Synonymous Variant
SLC20A2 transcript variant X4 XM_024447236.2:c.222C>A I [ATC] > I [ATA] Coding Sequence Variant
sodium-dependent phosphate transporter 2 isoform X1 XP_024303004.1:p.Ile74= I (Ile) > I (Ile) Synonymous Variant
SLC20A2 transcript variant X5 XM_047422120.1:c.222C>T I [ATC] > I [ATT] Coding Sequence Variant
sodium-dependent phosphate transporter 2 isoform X1 XP_047278076.1:p.Ile74= I (Ile) > I (Ile) Synonymous Variant
SLC20A2 transcript variant X5 XM_047422120.1:c.222C>A I [ATC] > I [ATA] Coding Sequence Variant
sodium-dependent phosphate transporter 2 isoform X1 XP_047278076.1:p.Ile74= I (Ile) > I (Ile) Synonymous Variant
SLC20A2 transcript variant X6 XM_047422121.1:c.222C>T I [ATC] > I [ATT] Coding Sequence Variant
sodium-dependent phosphate transporter 2 isoform X1 XP_047278077.1:p.Ile74= I (Ile) > I (Ile) Synonymous Variant
SLC20A2 transcript variant X6 XM_047422121.1:c.222C>A I [ATC] > I [ATA] Coding Sequence Variant
sodium-dependent phosphate transporter 2 isoform X1 XP_047278077.1:p.Ile74= I (Ile) > I (Ile) Synonymous Variant
SLC20A2 transcript variant X7 XM_047422122.1:c.222C>T I [ATC] > I [ATT] Coding Sequence Variant
sodium-dependent phosphate transporter 2 isoform X1 XP_047278078.1:p.Ile74= I (Ile) > I (Ile) Synonymous Variant
SLC20A2 transcript variant X7 XM_047422122.1:c.222C>A I [ATC] > I [ATA] Coding Sequence Variant
sodium-dependent phosphate transporter 2 isoform X1 XP_047278078.1:p.Ile74= I (Ile) > I (Ile) Synonymous Variant
SLC20A2 transcript variant X8 XM_006716390.5:c.222C>T I [ATC] > I [ATT] Coding Sequence Variant
sodium-dependent phosphate transporter 2 isoform X2 XP_006716453.1:p.Ile74= I (Ile) > I (Ile) Synonymous Variant
SLC20A2 transcript variant X8 XM_006716390.5:c.222C>A I [ATC] > I [ATA] Coding Sequence Variant
sodium-dependent phosphate transporter 2 isoform X2 XP_006716453.1:p.Ile74= I (Ile) > I (Ile) Synonymous Variant
SLC20A2 transcript variant X9 XM_017013749.3:c.222C>T I [ATC] > I [ATT] Coding Sequence Variant
sodium-dependent phosphate transporter 2 isoform X2 XP_016869238.1:p.Ile74= I (Ile) > I (Ile) Synonymous Variant
SLC20A2 transcript variant X9 XM_017013749.3:c.222C>A I [ATC] > I [ATA] Coding Sequence Variant
sodium-dependent phosphate transporter 2 isoform X2 XP_016869238.1:p.Ile74= I (Ile) > I (Ile) Synonymous Variant
SLC20A2 transcript variant X10 XM_047422123.1:c.222C>T I [ATC] > I [ATT] Coding Sequence Variant
sodium-dependent phosphate transporter 2 isoform X2 XP_047278079.1:p.Ile74= I (Ile) > I (Ile) Synonymous Variant
SLC20A2 transcript variant X10 XM_047422123.1:c.222C>A I [ATC] > I [ATA] Coding Sequence Variant
sodium-dependent phosphate transporter 2 isoform X2 XP_047278079.1:p.Ile74= I (Ile) > I (Ile) Synonymous Variant
SLC20A2 transcript variant X11 XM_047422124.1:c.222C>T I [ATC] > I [ATT] Coding Sequence Variant
sodium-dependent phosphate transporter 2 isoform X2 XP_047278080.1:p.Ile74= I (Ile) > I (Ile) Synonymous Variant
SLC20A2 transcript variant X11 XM_047422124.1:c.222C>A I [ATC] > I [ATA] Coding Sequence Variant
sodium-dependent phosphate transporter 2 isoform X2 XP_047278080.1:p.Ile74= I (Ile) > I (Ile) Synonymous Variant
SLC20A2 transcript variant X12 XM_024447237.2:c.222C>T I [ATC] > I [ATT] Coding Sequence Variant
sodium-dependent phosphate transporter 2 isoform X2 XP_024303005.1:p.Ile74= I (Ile) > I (Ile) Synonymous Variant
SLC20A2 transcript variant X12 XM_024447237.2:c.222C>A I [ATC] > I [ATA] Coding Sequence Variant
sodium-dependent phosphate transporter 2 isoform X2 XP_024303005.1:p.Ile74= I (Ile) > I (Ile) 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
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 G= A T
GRCh38.p14 chr 8 NC_000008.11:g.42472169= NC_000008.11:g.42472169G>A NC_000008.11:g.42472169G>T
GRCh37.p13 chr 8 NC_000008.10:g.42329687= NC_000008.10:g.42329687G>A NC_000008.10:g.42329687G>T
SLC20A2 RefSeqGene NG_032161.1:g.72670= NG_032161.1:g.72670C>T NG_032161.1:g.72670C>A
SLC20A2 transcript variant 2 NM_006749.5:c.222= NM_006749.5:c.222C>T NM_006749.5:c.222C>A
SLC20A2 transcript variant 2 NM_006749.4:c.222= NM_006749.4:c.222C>T NM_006749.4:c.222C>A
SLC20A2 transcript variant 1 NM_001257180.2:c.222= NM_001257180.2:c.222C>T NM_001257180.2:c.222C>A
SLC20A2 transcript variant 1 NM_001257180.1:c.222= NM_001257180.1:c.222C>T NM_001257180.1:c.222C>A
SLC20A2 transcript variant 3 NM_001257181.2:c.222= NM_001257181.2:c.222C>T NM_001257181.2:c.222C>A
SLC20A2 transcript variant 3 NM_001257181.1:c.222= NM_001257181.1:c.222C>T NM_001257181.1:c.222C>A
SLC20A2 transcript variant X8 XM_006716390.5:c.222= XM_006716390.5:c.222C>T XM_006716390.5:c.222C>A
SLC20A2 transcript variant X7 XM_006716390.4:c.222= XM_006716390.4:c.222C>T XM_006716390.4:c.222C>A
SLC20A2 transcript variant X5 XM_006716390.3:c.222= XM_006716390.3:c.222C>T XM_006716390.3:c.222C>A
SLC20A2 transcript variant X3 XM_006716390.2:c.222= XM_006716390.2:c.222C>T XM_006716390.2:c.222C>A
SLC20A2 transcript variant X4 XM_006716390.1:c.222= XM_006716390.1:c.222C>T XM_006716390.1:c.222C>A
SLC20A2 transcript variant X1 XM_005273613.4:c.222= XM_005273613.4:c.222C>T XM_005273613.4:c.222C>A
SLC20A2 transcript variant X1 XM_005273613.3:c.222= XM_005273613.3:c.222C>T XM_005273613.3:c.222C>A
SLC20A2 transcript variant X1 XM_005273613.2:c.222= XM_005273613.2:c.222C>T XM_005273613.2:c.222C>A
SLC20A2 transcript variant X1 XM_005273613.1:c.222= XM_005273613.1:c.222C>T XM_005273613.1:c.222C>A
SLC20A2 transcript variant X13 XM_017013752.3:c.-325= XM_017013752.3:c.-325C>T XM_017013752.3:c.-325C>A
SLC20A2 transcript variant X12 XM_017013752.2:c.-325= XM_017013752.2:c.-325C>T XM_017013752.2:c.-325C>A
SLC20A2 transcript variant X9 XM_017013752.1:c.-325= XM_017013752.1:c.-325C>T XM_017013752.1:c.-325C>A
SLC20A2 transcript variant X9 XM_017013749.3:c.222= XM_017013749.3:c.222C>T XM_017013749.3:c.222C>A
SLC20A2 transcript variant X6 XM_017013749.2:c.222= XM_017013749.2:c.222C>T XM_017013749.2:c.222C>A
SLC20A2 transcript variant X4 XM_017013749.1:c.222= XM_017013749.1:c.222C>T XM_017013749.1:c.222C>A
SLC20A2 transcript variant X3 XM_024447235.2:c.222= XM_024447235.2:c.222C>T XM_024447235.2:c.222C>A
SLC20A2 transcript variant X2 XM_024447235.1:c.222= XM_024447235.1:c.222C>T XM_024447235.1:c.222C>A
SLC20A2 transcript variant X4 XM_024447236.2:c.222= XM_024447236.2:c.222C>T XM_024447236.2:c.222C>A
SLC20A2 transcript variant X4 XM_024447236.1:c.222= XM_024447236.1:c.222C>T XM_024447236.1:c.222C>A
SLC20A2 transcript variant X2 XM_017013748.2:c.222= XM_017013748.2:c.222C>T XM_017013748.2:c.222C>A
SLC20A2 transcript variant X3 XM_017013748.1:c.222= XM_017013748.1:c.222C>T XM_017013748.1:c.222C>A
SLC20A2 transcript variant X12 XM_024447237.2:c.222= XM_024447237.2:c.222C>T XM_024447237.2:c.222C>A
SLC20A2 transcript variant X8 XM_024447237.1:c.222= XM_024447237.1:c.222C>T XM_024447237.1:c.222C>A
SLC20A2 transcript variant X10 XM_047422123.1:c.222= XM_047422123.1:c.222C>T XM_047422123.1:c.222C>A
SLC20A2 transcript variant X6 XM_047422121.1:c.222= XM_047422121.1:c.222C>T XM_047422121.1:c.222C>A
SLC20A2 transcript variant X5 XM_047422120.1:c.222= XM_047422120.1:c.222C>T XM_047422120.1:c.222C>A
SLC20A2 transcript variant X7 XM_047422122.1:c.222= XM_047422122.1:c.222C>T XM_047422122.1:c.222C>A
SLC20A2 transcript variant X11 XM_047422124.1:c.222= XM_047422124.1:c.222C>T XM_047422124.1:c.222C>A
sodium-dependent phosphate transporter 2 NP_006740.1:p.Ile74= NP_006740.1:p.Ile74= NP_006740.1:p.Ile74=
sodium-dependent phosphate transporter 2 NP_001244109.1:p.Ile74= NP_001244109.1:p.Ile74= NP_001244109.1:p.Ile74=
sodium-dependent phosphate transporter 2 NP_001244110.1:p.Ile74= NP_001244110.1:p.Ile74= NP_001244110.1:p.Ile74=
sodium-dependent phosphate transporter 2 isoform X2 XP_006716453.1:p.Ile74= XP_006716453.1:p.Ile74= XP_006716453.1:p.Ile74=
sodium-dependent phosphate transporter 2 isoform X1 XP_005273670.1:p.Ile74= XP_005273670.1:p.Ile74= XP_005273670.1:p.Ile74=
sodium-dependent phosphate transporter 2 isoform X2 XP_016869238.1:p.Ile74= XP_016869238.1:p.Ile74= XP_016869238.1:p.Ile74=
sodium-dependent phosphate transporter 2 isoform X1 XP_024303003.1:p.Ile74= XP_024303003.1:p.Ile74= XP_024303003.1:p.Ile74=
sodium-dependent phosphate transporter 2 isoform X1 XP_024303004.1:p.Ile74= XP_024303004.1:p.Ile74= XP_024303004.1:p.Ile74=
sodium-dependent phosphate transporter 2 isoform X1 XP_016869237.1:p.Ile74= XP_016869237.1:p.Ile74= XP_016869237.1:p.Ile74=
sodium-dependent phosphate transporter 2 isoform X2 XP_024303005.1:p.Ile74= XP_024303005.1:p.Ile74= XP_024303005.1:p.Ile74=
sodium-dependent phosphate transporter 2 isoform X2 XP_047278079.1:p.Ile74= XP_047278079.1:p.Ile74= XP_047278079.1:p.Ile74=
sodium-dependent phosphate transporter 2 isoform X1 XP_047278077.1:p.Ile74= XP_047278077.1:p.Ile74= XP_047278077.1:p.Ile74=
sodium-dependent phosphate transporter 2 isoform X1 XP_047278076.1:p.Ile74= XP_047278076.1:p.Ile74= XP_047278076.1:p.Ile74=
sodium-dependent phosphate transporter 2 isoform X1 XP_047278078.1:p.Ile74= XP_047278078.1:p.Ile74= XP_047278078.1:p.Ile74=
sodium-dependent phosphate transporter 2 isoform X2 XP_047278080.1:p.Ile74= XP_047278080.1:p.Ile74= XP_047278080.1:p.Ile74=
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#.

8 SubSNP, 7 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_UK10K_ALSPAC ss1620491021 Apr 01, 2015 (144)
2 EVA_UK10K_TWINSUK ss1663485054 Apr 01, 2015 (144)
3 EVA_EXAC ss1689184357 Apr 01, 2015 (144)
4 GNOMAD ss2737135971 Nov 08, 2017 (151)
5 GNOMAD ss2748042354 Nov 08, 2017 (151)
6 GNOMAD ss2865967388 Nov 08, 2017 (151)
7 TOPMED ss4783737212 Apr 26, 2021 (155)
8 EVA ss5974450270 Oct 16, 2022 (156)
9 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 42329687 Oct 12, 2018 (152)
10 ExAC NC_000008.10 - 42329687 Oct 12, 2018 (152)
11 gnomAD - Genomes NC_000008.11 - 42472169 Apr 26, 2021 (155)
12 gnomAD - Exomes NC_000008.10 - 42329687 Jul 13, 2019 (153)
13 TopMed NC_000008.11 - 42472169 Apr 26, 2021 (155)
14 UK 10K study - Twins NC_000008.10 - 42329687 Oct 12, 2018 (152)
15 ALFA NC_000008.11 - 42472169 Apr 26, 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
9332085873 NC_000008.11:42472168:G:A NC_000008.11:42472168:G:A (self)
23188252, 9283409, 6307445, 23188252, ss1620491021, ss1663485054, ss1689184357, ss2737135971, ss2748042354, ss2865967388, ss5974450270 NC_000008.10:42329686:G:T NC_000008.11:42472168:G:T (self)
293990224, 621114772, 9332085873, ss4783737212 NC_000008.11:42472168:G:T NC_000008.11:42472168:G: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 rs756522817

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.post761+d5e8e07