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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.

rs1483227705

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:112582398 (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=0.000004 (1/250094, GnomAD_exome)
T=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ST7L : 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 30012 C=0.99997 T=0.00003 0.999933 0.0 6.7e-05 0
European Sub 19506 C=1.00000 T=0.00000 1.0 0.0 0.0 N/A
African Sub 7656 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
African Others Sub 296 C=1.000 T=0.000 1.0 0.0 0.0 N/A
African American Sub 7360 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 1884 C=0.9995 T=0.0005 0.998938 0.0 0.001062 0


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 250094 C=0.999996 T=0.000004
gnomAD - Exomes European Sub 134316 C=0.999993 T=0.000007
gnomAD - Exomes Asian Sub 48938 C=1.00000 T=0.00000
gnomAD - Exomes American Sub 34494 C=1.00000 T=0.00000
gnomAD - Exomes African Sub 16174 C=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10066 C=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6106 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.112582398C>T
GRCh37.p13 chr 1 NC_000001.10:g.113125020C>T
Gene: ST7L, suppression of tumorigenicity 7 like (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ST7L transcript variant 1 NM_017744.5:c.931G>A E [GAA] > K [AAA] Coding Sequence Variant
suppressor of tumorigenicity 7 protein-like isoform 1 NP_060214.2:p.Glu311Lys E (Glu) > K (Lys) Missense Variant
ST7L transcript variant 2 NM_138727.4:c.880G>A E [GAA] > K [AAA] Coding Sequence Variant
suppressor of tumorigenicity 7 protein-like isoform 2 NP_620055.1:p.Glu294Lys E (Glu) > K (Lys) Missense Variant
ST7L transcript variant 3 NM_138728.3:c.931G>A E [GAA] > K [AAA] Coding Sequence Variant
suppressor of tumorigenicity 7 protein-like isoform 3 NP_620056.1:p.Glu311Lys E (Glu) > K (Lys) Missense Variant
ST7L transcript variant 7 NM_001308264.2:c.382G>A E [GAA] > K [AAA] Coding Sequence Variant
suppressor of tumorigenicity 7 protein-like isoform 7 NP_001295193.1:p.Glu128Lys E (Glu) > K (Lys) Missense Variant
ST7L transcript variant 4 NM_138729.4:c.931G>A E [GAA] > K [AAA] Coding Sequence Variant
suppressor of tumorigenicity 7 protein-like isoform 4 NP_620057.1:p.Glu311Lys E (Glu) > K (Lys) Missense Variant
ST7L transcript variant X1 XM_047423341.1:c.931G>A E [GAA] > K [AAA] Coding Sequence Variant
suppressor of tumorigenicity 7 protein-like isoform X1 XP_047279297.1:p.Glu311Lys E (Glu) > K (Lys) Missense Variant
ST7L transcript variant X3 XM_011541628.3:c.931G>A E [GAA] > K [AAA] Coding Sequence Variant
suppressor of tumorigenicity 7 protein-like isoform X2 XP_011539930.1:p.Glu311Lys E (Glu) > K (Lys) Missense Variant
ST7L transcript variant X5 XM_011541629.3:c.763G>A E [GAA] > K [AAA] Coding Sequence Variant
suppressor of tumorigenicity 7 protein-like isoform X3 XP_011539931.1:p.Glu255Lys E (Glu) > K (Lys) Missense Variant
ST7L transcript variant X6 XM_047423350.1:c.760G>A E [GAA] > K [AAA] Coding Sequence Variant
suppressor of tumorigenicity 7 protein-like isoform X4 XP_047279306.1:p.Glu254Lys E (Glu) > K (Lys) Missense Variant
ST7L transcript variant X7 XM_047423351.1:c.760G>A E [GAA] > K [AAA] Coding Sequence Variant
suppressor of tumorigenicity 7 protein-like isoform X5 XP_047279307.1:p.Glu254Lys E (Glu) > K (Lys) Missense Variant
ST7L transcript variant X8 XM_047423352.1:c.565G>A E [GAA] > K [AAA] Coding Sequence Variant
suppressor of tumorigenicity 7 protein-like isoform X6 XP_047279308.1:p.Glu189Lys E (Glu) > K (Lys) Missense Variant
ST7L transcript variant X9 XM_011541631.4:c.565G>A E [GAA] > K [AAA] Coding Sequence Variant
suppressor of tumorigenicity 7 protein-like isoform X6 XP_011539933.1:p.Glu189Lys E (Glu) > K (Lys) Missense Variant
ST7L transcript variant X10 XM_047423358.1:c.565G>A E [GAA] > K [AAA] Coding Sequence Variant
suppressor of tumorigenicity 7 protein-like isoform X6 XP_047279314.1:p.Glu189Lys E (Glu) > K (Lys) Missense Variant
ST7L transcript variant X11 XM_047423363.1:c.931G>A E [GAA] > K [AAA] Coding Sequence Variant
suppressor of tumorigenicity 7 protein-like isoform X7 XP_047279319.1:p.Glu311Lys E (Glu) > K (Lys) Missense Variant
ST7L transcript variant X12 XM_017001535.2:c.931G>A E [GAA] > K [AAA] Coding Sequence Variant
suppressor of tumorigenicity 7 protein-like isoform X8 XP_016857024.1:p.Glu311Lys E (Glu) > K (Lys) Missense Variant
ST7L transcript variant X15 XM_047423368.1:c.565G>A E [GAA] > K [AAA] Coding Sequence Variant
suppressor of tumorigenicity 7 protein-like isoform X9 XP_047279324.1:p.Glu189Lys E (Glu) > K (Lys) Missense Variant
ST7L transcript variant X20 XM_047423369.1:c.931G>A E [GAA] > K [AAA] Coding Sequence Variant
suppressor of tumorigenicity 7 protein-like isoform X10 XP_047279325.1:p.Glu311Lys E (Glu) > K (Lys) Missense Variant
ST7L transcript variant X21 XM_047423372.1:c.565G>A E [GAA] > K [AAA] Coding Sequence Variant
suppressor of tumorigenicity 7 protein-like isoform X6 XP_047279328.1:p.Glu189Lys E (Glu) > K (Lys) Missense Variant
ST7L transcript variant X23 XM_047423373.1:c.79G>A E [GAA] > K [AAA] Coding Sequence Variant
suppressor of tumorigenicity 7 protein-like isoform X11 XP_047279329.1:p.Glu27Lys E (Glu) > K (Lys) Missense Variant
ST7L transcript variant X24 XM_047423374.1:c.382G>A E [GAA] > K [AAA] Coding Sequence Variant
suppressor of tumorigenicity 7 protein-like isoform X12 XP_047279330.1:p.Glu128Lys E (Glu) > K (Lys) Missense Variant
ST7L transcript variant X2 XR_007061291.1:n.959G>A N/A Non Coding Transcript Variant
ST7L transcript variant X4 XR_007061292.1:n.959G>A N/A Non Coding Transcript Variant
ST7L transcript variant X13 XR_007061293.1:n.959G>A N/A Non Coding Transcript Variant
ST7L transcript variant X14 XR_946675.3:n.959G>A N/A Non Coding Transcript Variant
ST7L transcript variant X16 XR_007061294.1:n.959G>A N/A Non Coding Transcript Variant
ST7L transcript variant X17 XR_007061295.1:n.959G>A N/A Non Coding Transcript Variant
ST7L transcript variant X18 XR_007061296.1:n.959G>A N/A Non Coding Transcript Variant
ST7L transcript variant X19 XR_007061297.1:n.959G>A N/A Non Coding Transcript Variant
ST7L transcript variant X22 XR_007061298.1:n.959G>A N/A Non Coding Transcript 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.112582398= NC_000001.11:g.112582398C>T
GRCh37.p13 chr 1 NC_000001.10:g.113125020= NC_000001.10:g.113125020C>T
ST7L transcript variant 1 NM_017744.5:c.931= NM_017744.5:c.931G>A
ST7L transcript variant 1 NM_017744.4:c.931= NM_017744.4:c.931G>A
ST7L transcript variant 2 NM_138727.4:c.880= NM_138727.4:c.880G>A
ST7L transcript variant 2 NM_138727.3:c.880= NM_138727.3:c.880G>A
ST7L transcript variant X9 XM_011541631.4:c.565= XM_011541631.4:c.565G>A
ST7L transcript variant X7 XM_011541631.3:c.565= XM_011541631.3:c.565G>A
ST7L transcript variant X8 XM_011541631.2:c.565= XM_011541631.2:c.565G>A
ST7L transcript variant X8 XM_011541631.1:c.565= XM_011541631.1:c.565G>A
ST7L transcript variant 4 NM_138729.4:c.931= NM_138729.4:c.931G>A
ST7L transcript variant 4 NM_138729.3:c.931= NM_138729.3:c.931G>A
ST7L transcript variant X5 XM_011541629.3:c.763= XM_011541629.3:c.763G>A
ST7L transcript variant X5 XM_011541629.2:c.763= XM_011541629.2:c.763G>A
ST7L transcript variant X5 XM_011541629.1:c.763= XM_011541629.1:c.763G>A
ST7L transcript variant 3 NM_138728.3:c.931= NM_138728.3:c.931G>A
ST7L transcript variant 3 NM_138728.2:c.931= NM_138728.2:c.931G>A
ST7L transcript variant X3 XM_011541628.3:c.931= XM_011541628.3:c.931G>A
ST7L transcript variant X3 XM_011541628.2:c.931= XM_011541628.2:c.931G>A
ST7L transcript variant X4 XM_011541628.1:c.931= XM_011541628.1:c.931G>A
ST7L transcript variant X14 XR_946675.3:n.959= XR_946675.3:n.959G>A
ST7L transcript variant X11 XR_946675.2:n.945= XR_946675.2:n.945G>A
ST7L transcript variant X12 XR_946675.1:n.951= XR_946675.1:n.951G>A
ST7L transcript variant 7 NM_001308264.2:c.382= NM_001308264.2:c.382G>A
ST7L transcript variant 7 NM_001308264.1:c.382= NM_001308264.1:c.382G>A
ST7L transcript variant X12 XM_017001535.2:c.931= XM_017001535.2:c.931G>A
ST7L transcript variant X9 XM_017001535.1:c.931= XM_017001535.1:c.931G>A
ST7L transcript variant 6 NM_198328.1:c.931= NM_198328.1:c.931G>A
ST7L transcript variant 5 NM_198327.1:c.931= NM_198327.1:c.931G>A
ST7L transcript variant X15 XM_047423368.1:c.565= XM_047423368.1:c.565G>A
ST7L transcript variant X1 XM_047423341.1:c.931= XM_047423341.1:c.931G>A
ST7L transcript variant X21 XM_047423372.1:c.565= XM_047423372.1:c.565G>A
ST7L transcript variant X10 XM_047423358.1:c.565= XM_047423358.1:c.565G>A
ST7L transcript variant X8 XM_047423352.1:c.565= XM_047423352.1:c.565G>A
ST7L transcript variant X6 XM_047423350.1:c.760= XM_047423350.1:c.760G>A
ST7L transcript variant X7 XM_047423351.1:c.760= XM_047423351.1:c.760G>A
ST7L transcript variant X24 XM_047423374.1:c.382= XM_047423374.1:c.382G>A
ST7L transcript variant X23 XM_047423373.1:c.79= XM_047423373.1:c.79G>A
ST7L transcript variant X2 XR_007061291.1:n.959= XR_007061291.1:n.959G>A
ST7L transcript variant X4 XR_007061292.1:n.959= XR_007061292.1:n.959G>A
ST7L transcript variant X13 XR_007061293.1:n.959= XR_007061293.1:n.959G>A
ST7L transcript variant X11 XM_047423363.1:c.931= XM_047423363.1:c.931G>A
ST7L transcript variant 5 NM_139195.1:c.*635= NM_139195.1:c.*635G>A
ST7L transcript variant X19 XR_007061297.1:n.959= XR_007061297.1:n.959G>A
ST7L transcript variant X17 XR_007061295.1:n.959= XR_007061295.1:n.959G>A
ST7L transcript variant X16 XR_007061294.1:n.959= XR_007061294.1:n.959G>A
ST7L transcript variant X18 XR_007061296.1:n.959= XR_007061296.1:n.959G>A
ST7L transcript variant X20 XM_047423369.1:c.931= XM_047423369.1:c.931G>A
ST7L transcript variant X22 XR_007061298.1:n.959= XR_007061298.1:n.959G>A
suppressor of tumorigenicity 7 protein-like isoform 1 NP_060214.2:p.Glu311= NP_060214.2:p.Glu311Lys
suppressor of tumorigenicity 7 protein-like isoform 2 NP_620055.1:p.Glu294= NP_620055.1:p.Glu294Lys
suppressor of tumorigenicity 7 protein-like isoform X6 XP_011539933.1:p.Glu189= XP_011539933.1:p.Glu189Lys
suppressor of tumorigenicity 7 protein-like isoform 4 NP_620057.1:p.Glu311= NP_620057.1:p.Glu311Lys
suppressor of tumorigenicity 7 protein-like isoform X3 XP_011539931.1:p.Glu255= XP_011539931.1:p.Glu255Lys
suppressor of tumorigenicity 7 protein-like isoform 3 NP_620056.1:p.Glu311= NP_620056.1:p.Glu311Lys
suppressor of tumorigenicity 7 protein-like isoform X2 XP_011539930.1:p.Glu311= XP_011539930.1:p.Glu311Lys
suppressor of tumorigenicity 7 protein-like isoform 7 NP_001295193.1:p.Glu128= NP_001295193.1:p.Glu128Lys
suppressor of tumorigenicity 7 protein-like isoform X8 XP_016857024.1:p.Glu311= XP_016857024.1:p.Glu311Lys
suppressor of tumorigenicity 7 protein-like isoform X9 XP_047279324.1:p.Glu189= XP_047279324.1:p.Glu189Lys
suppressor of tumorigenicity 7 protein-like isoform X1 XP_047279297.1:p.Glu311= XP_047279297.1:p.Glu311Lys
suppressor of tumorigenicity 7 protein-like isoform X6 XP_047279328.1:p.Glu189= XP_047279328.1:p.Glu189Lys
suppressor of tumorigenicity 7 protein-like isoform X6 XP_047279314.1:p.Glu189= XP_047279314.1:p.Glu189Lys
suppressor of tumorigenicity 7 protein-like isoform X6 XP_047279308.1:p.Glu189= XP_047279308.1:p.Glu189Lys
suppressor of tumorigenicity 7 protein-like isoform X4 XP_047279306.1:p.Glu254= XP_047279306.1:p.Glu254Lys
suppressor of tumorigenicity 7 protein-like isoform X5 XP_047279307.1:p.Glu254= XP_047279307.1:p.Glu254Lys
suppressor of tumorigenicity 7 protein-like isoform X12 XP_047279330.1:p.Glu128= XP_047279330.1:p.Glu128Lys
suppressor of tumorigenicity 7 protein-like isoform X11 XP_047279329.1:p.Glu27= XP_047279329.1:p.Glu27Lys
suppressor of tumorigenicity 7 protein-like isoform X7 XP_047279319.1:p.Glu311= XP_047279319.1:p.Glu311Lys
suppressor of tumorigenicity 7 protein-like isoform X10 XP_047279325.1:p.Glu311= XP_047279325.1:p.Glu311Lys
ST7L transcript variant X9 XM_005270969.1:c.452-3981= XM_005270969.1:c.452-3981G>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 ss2731721162 Nov 08, 2017 (151)
2 TOPMED ss4463933652 Apr 25, 2021 (155)
3 gnomAD - Exomes NC_000001.10 - 113125020 Jul 12, 2019 (153)
4 TopMed NC_000001.11 - 112582398 Apr 25, 2021 (155)
5 ALFA NC_000001.11 - 112582398 Apr 25, 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
744898, ss2731721162 NC_000001.10:113125019:C:T NC_000001.11:112582397:C:T (self)
27539987, 9939555673, ss4463933652 NC_000001.11:112582397:C:T NC_000001.11:112582397: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 rs1483227705

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.post820+afb47a3d