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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs1483027506

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:31744306 (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
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000004 (1/264690, TOPMED)
T=0.000007 (1/140226, GnomAD)
T=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ADGRB2 : Missense 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 14050 C=1.00000 T=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 C=1.000 T=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 C=1.000 T=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 C=1.000 T=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 C=1.000 T=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Other Sub 496 C=1.000 T=0.000 1.0 0.0 0.0 N/A


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 - Genomes Global Study-wide 140226 C=0.999993 T=0.000007
gnomAD - Genomes European Sub 75942 C=0.99999 T=0.00001
gnomAD - Genomes African Sub 42016 C=1.00000 T=0.00000
gnomAD - Genomes American Sub 13658 C=1.00000 T=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3134 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2154 C=1.0000 T=0.0000
Allele Frequency Aggregator Total Global 14050 C=1.00000 T=0.00000
Allele Frequency Aggregator European Sub 9690 C=1.0000 T=0.0000
Allele Frequency Aggregator African Sub 2898 C=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 T=0.000
Allele Frequency Aggregator Other Sub 496 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 T=0.000
Allele Frequency Aggregator Asian Sub 112 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 T=0.00
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 1 NC_000001.11:g.31744306C>T
GRCh37.p13 chr 1 NC_000001.10:g.32209907C>T
Gene: ADGRB2, adhesion G protein-coupled receptor B2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ADGRB2 transcript variant 1 NM_001294335.2:c.974G>A C [TGT] > Y [TAT] Coding Sequence Variant
adhesion G protein-coupled receptor B2 isoform 1 preproprotein NP_001281264.1:p.Cys325Tyr C (Cys) > Y (Tyr) Missense Variant
ADGRB2 transcript variant 2 NM_001294336.2:c.974G>A C [TGT] > Y [TAT] Coding Sequence Variant
adhesion G protein-coupled receptor B2 isoform 2 preproprotein NP_001281265.1:p.Cys325Tyr C (Cys) > Y (Tyr) Missense Variant
ADGRB2 transcript variant 3 NM_001364857.2:c.974G>A C [TGT] > Y [TAT] Coding Sequence Variant
adhesion G protein-coupled receptor B2 isoform 3 preproprotein NP_001351786.1:p.Cys325Tyr C (Cys) > Y (Tyr) Missense Variant
ADGRB2 transcript variant X14 XM_017001908.2:c.922+342G…

XM_017001908.2:c.922+342G>A

 		N/A Intron Variant
ADGRB2 transcript variant X16 XM_017001909.2:c.922+342G…

XM_017001909.2:c.922+342G>A

 		N/A Intron Variant
ADGRB2 transcript variant X21 XM_017001910.2:c.922+342G…

XM_017001910.2:c.922+342G>A

 		N/A Intron Variant
ADGRB2 transcript variant X23 XM_017001911.2:c.922+342G…

XM_017001911.2:c.922+342G>A

 		N/A Intron Variant
ADGRB2 transcript variant X24 XM_017001912.2:c.922+342G…

XM_017001912.2:c.922+342G>A

 		N/A Intron Variant
ADGRB2 transcript variant X1 XM_047426173.1:c.974G>A C [TGT] > Y [TAT] Coding Sequence Variant
adhesion G protein-coupled receptor B2 isoform X1 XP_047282129.1:p.Cys325Tyr C (Cys) > Y (Tyr) Missense Variant
ADGRB2 transcript variant X2 XM_017001899.2:c.974G>A C [TGT] > Y [TAT] Coding Sequence Variant
adhesion G protein-coupled receptor B2 isoform X1 XP_016857388.1:p.Cys325Tyr C (Cys) > Y (Tyr) Missense Variant
ADGRB2 transcript variant X3 XM_017001900.2:c.974G>A C [TGT] > Y [TAT] Coding Sequence Variant
adhesion G protein-coupled receptor B2 isoform X2 XP_016857389.1:p.Cys325Tyr C (Cys) > Y (Tyr) Missense Variant
ADGRB2 transcript variant X4 XM_024448673.2:c.938G>A C [TGT] > Y [TAT] Coding Sequence Variant
adhesion G protein-coupled receptor B2 isoform X3 XP_024304441.1:p.Cys313Tyr C (Cys) > Y (Tyr) Missense Variant
ADGRB2 transcript variant X5 XM_017001901.2:c.974G>A C [TGT] > Y [TAT] Coding Sequence Variant
adhesion G protein-coupled receptor B2 isoform X4 XP_016857390.1:p.Cys325Tyr C (Cys) > Y (Tyr) Missense Variant
ADGRB2 transcript variant X6 XM_017001902.2:c.974G>A C [TGT] > Y [TAT] Coding Sequence Variant
adhesion G protein-coupled receptor B2 isoform X5 XP_016857391.1:p.Cys325Tyr C (Cys) > Y (Tyr) Missense Variant
ADGRB2 transcript variant X7 XM_017001903.2:c.974G>A C [TGT] > Y [TAT] Coding Sequence Variant
adhesion G protein-coupled receptor B2 isoform X6 XP_016857392.1:p.Cys325Tyr C (Cys) > Y (Tyr) Missense Variant
ADGRB2 transcript variant X8 XM_047426178.1:c.974G>A C [TGT] > Y [TAT] Coding Sequence Variant
adhesion G protein-coupled receptor B2 isoform X7 XP_047282134.1:p.Cys325Tyr C (Cys) > Y (Tyr) Missense Variant
ADGRB2 transcript variant X9 XM_017001905.2:c.974G>A C [TGT] > Y [TAT] Coding Sequence Variant
adhesion G protein-coupled receptor B2 isoform X8 XP_016857394.1:p.Cys325Tyr C (Cys) > Y (Tyr) Missense Variant
ADGRB2 transcript variant X10 XM_017001906.2:c.974G>A C [TGT] > Y [TAT] Coding Sequence Variant
adhesion G protein-coupled receptor B2 isoform X9 XP_016857395.1:p.Cys325Tyr C (Cys) > Y (Tyr) Missense Variant
ADGRB2 transcript variant X11 XM_047426179.1:c.974G>A C [TGT] > Y [TAT] Coding Sequence Variant
adhesion G protein-coupled receptor B2 isoform X10 XP_047282135.1:p.Cys325Tyr C (Cys) > Y (Tyr) Missense Variant
ADGRB2 transcript variant X12 XM_047426180.1:c.974G>A C [TGT] > Y [TAT] Coding Sequence Variant
adhesion G protein-coupled receptor B2 isoform X11 XP_047282136.1:p.Cys325Tyr C (Cys) > Y (Tyr) Missense Variant
ADGRB2 transcript variant X13 XM_047426181.1:c.974G>A C [TGT] > Y [TAT] Coding Sequence Variant
adhesion G protein-coupled receptor B2 isoform X11 XP_047282137.1:p.Cys325Tyr C (Cys) > Y (Tyr) Missense Variant
ADGRB2 transcript variant X15 XM_047426182.1:c.974G>A C [TGT] > Y [TAT] Coding Sequence Variant
adhesion G protein-coupled receptor B2 isoform X13 XP_047282138.1:p.Cys325Tyr C (Cys) > Y (Tyr) Missense Variant
ADGRB2 transcript variant X17 XM_047426183.1:c.974G>A C [TGT] > Y [TAT] Coding Sequence Variant
adhesion G protein-coupled receptor B2 isoform X15 XP_047282139.1:p.Cys325Tyr C (Cys) > Y (Tyr) Missense Variant
ADGRB2 transcript variant X18 XM_047426184.1:c.974G>A C [TGT] > Y [TAT] Coding Sequence Variant
adhesion G protein-coupled receptor B2 isoform X16 XP_047282140.1:p.Cys325Tyr C (Cys) > Y (Tyr) Missense Variant
ADGRB2 transcript variant X19 XM_047426185.1:c.974G>A C [TGT] > Y [TAT] Coding Sequence Variant
adhesion G protein-coupled receptor B2 isoform X17 XP_047282141.1:p.Cys325Tyr C (Cys) > Y (Tyr) Missense Variant
ADGRB2 transcript variant X20 XM_047426186.1:c.974G>A C [TGT] > Y [TAT] Coding Sequence Variant
adhesion G protein-coupled receptor B2 isoform X18 XP_047282142.1:p.Cys325Tyr C (Cys) > Y (Tyr) Missense Variant
ADGRB2 transcript variant X22 XM_047426187.1:c.938G>A C [TGT] > Y [TAT] Coding Sequence Variant
adhesion G protein-coupled receptor B2 isoform X20 XP_047282143.1:p.Cys313Tyr C (Cys) > Y (Tyr) Missense Variant
ADGRB2 transcript variant X25 XM_047426188.1:c.938G>A C [TGT] > Y [TAT] Coding Sequence Variant
adhesion G protein-coupled receptor B2 isoform X23 XP_047282144.1:p.Cys313Tyr C (Cys) > Y (Tyr) Missense Variant
ADGRB2 transcript variant X26 XM_047426189.1:c.974G>A C [TGT] > Y [TAT] Coding Sequence Variant
adhesion G protein-coupled receptor B2 isoform X24 XP_047282145.1:p.Cys325Tyr C (Cys) > Y (Tyr) Missense Variant
ADGRB2 transcript variant X27 XM_047426190.1:c.974G>A C [TGT] > Y [TAT] Coding Sequence Variant
adhesion G protein-coupled receptor B2 isoform X25 XP_047282146.1:p.Cys325Tyr C (Cys) > Y (Tyr) Missense Variant
ADGRB2 transcript variant X28 XM_011541858.3:c.65G>A C [TGT] > Y [TAT] Coding Sequence Variant
adhesion G protein-coupled receptor B2 isoform X26 XP_011540160.1:p.Cys22Tyr C (Cys) > Y (Tyr) Missense Variant
ADGRB2 transcript variant X29 XM_047426191.1:c.974G>A C [TGT] > Y [TAT] Coding Sequence Variant
adhesion G protein-coupled receptor B2 isoform X27 XP_047282147.1:p.Cys325Tyr C (Cys) > Y (Tyr) Missense 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 C= T
GRCh38.p14 chr 1 NC_000001.11:g.31744306= NC_000001.11:g.31744306C>T
GRCh37.p13 chr 1 NC_000001.10:g.32209907= NC_000001.10:g.32209907C>T
ADGRB2 transcript variant X28 XM_011541858.3:c.65= XM_011541858.3:c.65G>A
ADGRB2 transcript variant X18 XM_011541858.2:c.65= XM_011541858.2:c.65G>A
ADGRB2 transcript variant X11 XM_011541858.1:c.65= XM_011541858.1:c.65G>A
ADGRB2 transcript variant X2 XM_017001899.2:c.974= XM_017001899.2:c.974G>A
ADGRB2 transcript variant X1 XM_017001899.1:c.974= XM_017001899.1:c.974G>A
ADGRB2 transcript variant 3 NM_001364857.2:c.974= NM_001364857.2:c.974G>A
ADGRB2 transcript variant 3 NM_001364857.1:c.974= NM_001364857.1:c.974G>A
ADGRB2 transcript variant 1 NM_001294335.2:c.974= NM_001294335.2:c.974G>A
ADGRB2 transcript variant 1 NM_001294335.1:c.974= NM_001294335.1:c.974G>A
ADGRB2 transcript variant 2 NM_001294336.2:c.974= NM_001294336.2:c.974G>A
ADGRB2 transcript variant 2 NM_001294336.1:c.974= NM_001294336.1:c.974G>A
ADGRB2 transcript variant X3 XM_017001900.2:c.974= XM_017001900.2:c.974G>A
ADGRB2 transcript variant X3 XM_017001900.1:c.974= XM_017001900.1:c.974G>A
ADGRB2 transcript variant X4 XM_024448673.2:c.938= XM_024448673.2:c.938G>A
ADGRB2 transcript variant X5 XM_024448673.1:c.938= XM_024448673.1:c.938G>A
ADGRB2 transcript variant X5 XM_017001901.2:c.974= XM_017001901.2:c.974G>A
ADGRB2 transcript variant X6 XM_017001901.1:c.974= XM_017001901.1:c.974G>A
ADGRB2 transcript variant X6 XM_017001902.2:c.974= XM_017001902.2:c.974G>A
ADGRB2 transcript variant X7 XM_017001902.1:c.974= XM_017001902.1:c.974G>A
ADGRB2 transcript variant X7 XM_017001903.2:c.974= XM_017001903.2:c.974G>A
ADGRB2 transcript variant X8 XM_017001903.1:c.974= XM_017001903.1:c.974G>A
BAI2 transcript NM_001703.2:c.974= NM_001703.2:c.974G>A
ADGRB2 transcript variant X9 XM_017001905.2:c.974= XM_017001905.2:c.974G>A
ADGRB2 transcript variant X10 XM_017001905.1:c.974= XM_017001905.1:c.974G>A
ADGRB2 transcript variant X10 XM_017001906.2:c.974= XM_017001906.2:c.974G>A
ADGRB2 transcript variant X11 XM_017001906.1:c.974= XM_017001906.1:c.974G>A
ADGRB2 transcript variant X25 XM_047426188.1:c.938= XM_047426188.1:c.938G>A
ADGRB2 transcript variant X8 XM_047426178.1:c.974= XM_047426178.1:c.974G>A
ADGRB2 transcript variant X1 XM_047426173.1:c.974= XM_047426173.1:c.974G>A
ADGRB2 transcript variant X12 XM_047426180.1:c.974= XM_047426180.1:c.974G>A
ADGRB2 transcript variant X20 XM_047426186.1:c.974= XM_047426186.1:c.974G>A
ADGRB2 transcript variant X13 XM_047426181.1:c.974= XM_047426181.1:c.974G>A
ADGRB2 transcript variant X11 XM_047426179.1:c.974= XM_047426179.1:c.974G>A
ADGRB2 transcript variant X15 XM_047426182.1:c.974= XM_047426182.1:c.974G>A
ADGRB2 transcript variant X18 XM_047426184.1:c.974= XM_047426184.1:c.974G>A
ADGRB2 transcript variant X17 XM_047426183.1:c.974= XM_047426183.1:c.974G>A
ADGRB2 transcript variant X19 XM_047426185.1:c.974= XM_047426185.1:c.974G>A
ADGRB2 transcript variant X22 XM_047426187.1:c.938= XM_047426187.1:c.938G>A
ADGRB2 transcript variant X26 XM_047426189.1:c.974= XM_047426189.1:c.974G>A
ADGRB2 transcript variant X27 XM_047426190.1:c.974= XM_047426190.1:c.974G>A
ADGRB2 transcript variant X29 XM_047426191.1:c.974= XM_047426191.1:c.974G>A
adhesion G protein-coupled receptor B2 isoform X26 XP_011540160.1:p.Cys22= XP_011540160.1:p.Cys22Tyr
adhesion G protein-coupled receptor B2 isoform X1 XP_016857388.1:p.Cys325= XP_016857388.1:p.Cys325Tyr
adhesion G protein-coupled receptor B2 isoform 3 preproprotein NP_001351786.1:p.Cys325= NP_001351786.1:p.Cys325Tyr
adhesion G protein-coupled receptor B2 isoform 1 preproprotein NP_001281264.1:p.Cys325= NP_001281264.1:p.Cys325Tyr
adhesion G protein-coupled receptor B2 isoform 2 preproprotein NP_001281265.1:p.Cys325= NP_001281265.1:p.Cys325Tyr
adhesion G protein-coupled receptor B2 isoform X2 XP_016857389.1:p.Cys325= XP_016857389.1:p.Cys325Tyr
adhesion G protein-coupled receptor B2 isoform X3 XP_024304441.1:p.Cys313= XP_024304441.1:p.Cys313Tyr
adhesion G protein-coupled receptor B2 isoform X4 XP_016857390.1:p.Cys325= XP_016857390.1:p.Cys325Tyr
adhesion G protein-coupled receptor B2 isoform X5 XP_016857391.1:p.Cys325= XP_016857391.1:p.Cys325Tyr
adhesion G protein-coupled receptor B2 isoform X6 XP_016857392.1:p.Cys325= XP_016857392.1:p.Cys325Tyr
adhesion G protein-coupled receptor B2 isoform X8 XP_016857394.1:p.Cys325= XP_016857394.1:p.Cys325Tyr
adhesion G protein-coupled receptor B2 isoform X9 XP_016857395.1:p.Cys325= XP_016857395.1:p.Cys325Tyr
adhesion G protein-coupled receptor B2 isoform X23 XP_047282144.1:p.Cys313= XP_047282144.1:p.Cys313Tyr
adhesion G protein-coupled receptor B2 isoform X7 XP_047282134.1:p.Cys325= XP_047282134.1:p.Cys325Tyr
adhesion G protein-coupled receptor B2 isoform X1 XP_047282129.1:p.Cys325= XP_047282129.1:p.Cys325Tyr
adhesion G protein-coupled receptor B2 isoform X11 XP_047282136.1:p.Cys325= XP_047282136.1:p.Cys325Tyr
adhesion G protein-coupled receptor B2 isoform X18 XP_047282142.1:p.Cys325= XP_047282142.1:p.Cys325Tyr
adhesion G protein-coupled receptor B2 isoform X11 XP_047282137.1:p.Cys325= XP_047282137.1:p.Cys325Tyr
adhesion G protein-coupled receptor B2 isoform X10 XP_047282135.1:p.Cys325= XP_047282135.1:p.Cys325Tyr
adhesion G protein-coupled receptor B2 isoform X13 XP_047282138.1:p.Cys325= XP_047282138.1:p.Cys325Tyr
adhesion G protein-coupled receptor B2 isoform X16 XP_047282140.1:p.Cys325= XP_047282140.1:p.Cys325Tyr
adhesion G protein-coupled receptor B2 isoform X15 XP_047282139.1:p.Cys325= XP_047282139.1:p.Cys325Tyr
adhesion G protein-coupled receptor B2 isoform X17 XP_047282141.1:p.Cys325= XP_047282141.1:p.Cys325Tyr
adhesion G protein-coupled receptor B2 isoform X20 XP_047282143.1:p.Cys313= XP_047282143.1:p.Cys313Tyr
adhesion G protein-coupled receptor B2 isoform X24 XP_047282145.1:p.Cys325= XP_047282145.1:p.Cys325Tyr
adhesion G protein-coupled receptor B2 isoform X25 XP_047282146.1:p.Cys325= XP_047282146.1:p.Cys325Tyr
adhesion G protein-coupled receptor B2 isoform X27 XP_047282147.1:p.Cys325= XP_047282147.1:p.Cys325Tyr
brain-specific angiogenesis inhibitor 2 precursor NP_001694.2:p.Cys325= NP_001694.2:p.Cys325Tyr
BAI2 transcript variant X6 XM_005271066.1:c.1024+342= XM_005271066.1:c.1024+342G>A
BAI2 transcript variant X8 XM_005271068.1:c.1024+342= XM_005271068.1:c.1024+342G>A
BAI2 transcript variant X9 XM_005271069.1:c.1024+342= XM_005271069.1:c.1024+342G>A
BAI2 transcript variant X10 XM_005271070.1:c.1024+342= XM_005271070.1:c.1024+342G>A
BAI2 transcript variant X11 XM_005271071.1:c.1024+342= XM_005271071.1:c.1024+342G>A
ADGRB2 transcript variant X14 XM_017001908.2:c.922+342= XM_017001908.2:c.922+342G>A
ADGRB2 transcript variant X16 XM_017001909.2:c.922+342= XM_017001909.2:c.922+342G>A
ADGRB2 transcript variant X21 XM_017001910.2:c.922+342= XM_017001910.2:c.922+342G>A
ADGRB2 transcript variant X23 XM_017001911.2:c.922+342= XM_017001911.2:c.922+342G>A
ADGRB2 transcript variant X24 XM_017001912.2:c.922+342= XM_017001912.2:c.922+342G>A
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#.

2 SubSNP, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss3990884938 Apr 25, 2021 (155)
2 TOPMED ss4444164900 Apr 25, 2021 (155)
3 gnomAD - Genomes NC_000001.11 - 31744306 Apr 25, 2021 (155)
4 TopMed NC_000001.11 - 31744306 Apr 25, 2021 (155)
5 ALFA NC_000001.11 - 31744306 Apr 25, 2021 (155)
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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
6776766, 7771235, 5511579661, ss3990884938, ss4444164900 NC_000001.11:31744305:C:T NC_000001.11:31744305:C:T (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1483027506

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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
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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.post820+afb47a3d