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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.

rs140751899

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:930282 (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
G>A / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000960 (254/264690, TOPMED)
A=0.000257 (61/237158, GnomAD_exome)
A=0.000063 (7/111378, ALFA) (+ 3 more)
A=0.00064 (44/68874, ExAC)
A=0.00146 (19/12984, GO-ESP)
A=0.0008 (4/5008, 1000G)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SAMD11 : Missense 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 1 NC_000001.11:g.930282G>A
GRCh38.p13 chr 1 NC_000001.11:g.930282G>T
GRCh37.p13 chr 1 NC_000001.10:g.865662G>A
GRCh37.p13 chr 1 NC_000001.10:g.865662G>T
Gene: SAMD11, sterile alpha motif domain containing 11 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
SAMD11 transcript variant 3 NM_152486.4:c.200G>A R [CGG] > Q [CAG] Coding Sequence Variant
sterile alpha motif domain-containing protein 11 isoform 3 NP_689699.3:p.Arg67Gln R (Arg) > Q (Gln) Missense Variant
SAMD11 transcript variant 3 NM_152486.4:c.200G>T R [CGG] > L [CTG] Coding Sequence Variant
sterile alpha motif domain-containing protein 11 isoform 3 NP_689699.3:p.Arg67Leu R (Arg) > L (Leu) Missense Variant
SAMD11 transcript variant 1 NM_001385641.1:c.737G>A R [CGG] > Q [CAG] Coding Sequence Variant
sterile alpha motif domain-containing protein 11 isoform 1 NP_001372570.1:p.Arg246Gln R (Arg) > Q (Gln) Missense Variant
SAMD11 transcript variant 1 NM_001385641.1:c.737G>T R [CGG] > L [CTG] Coding Sequence Variant
sterile alpha motif domain-containing protein 11 isoform 1 NP_001372570.1:p.Arg246Leu R (Arg) > L (Leu) Missense Variant
SAMD11 transcript variant 2 NM_001385640.1:c.737G>A R [CGG] > Q [CAG] Coding Sequence Variant
sterile alpha motif domain-containing protein 11 isoform 2 NP_001372569.1:p.Arg246Gln R (Arg) > Q (Gln) Missense Variant
SAMD11 transcript variant 2 NM_001385640.1:c.737G>T R [CGG] > L [CTG] Coding Sequence Variant
sterile alpha motif domain-containing protein 11 isoform 2 NP_001372569.1:p.Arg246Leu R (Arg) > L (Leu) 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

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 111378 G=0.999937 A=0.000063, T=0.000000
European Sub 94892 G=0.99999 A=0.00001, T=0.00000
African Sub 4022 G=0.9990 A=0.0010, T=0.0000
African Others Sub 124 G=1.000 A=0.000, T=0.000
African American Sub 3898 G=0.9990 A=0.0010, T=0.0000
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 648 G=1.000 A=0.000, T=0.000
South Asian Sub 98 G=1.00 A=0.00, T=0.00
Other Sub 11050 G=0.99982 A=0.00018, T=0.00000


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=0.999040 A=0.000960
gnomAD - Exomes Global Study-wide 237158 G=0.999743 A=0.000257
gnomAD - Exomes European Sub 126258 G=0.999984 A=0.000016
gnomAD - Exomes Asian Sub 46970 G=0.99998 A=0.00002
gnomAD - Exomes American Sub 33550 G=0.99994 A=0.00006
gnomAD - Exomes African Sub 14826 G=0.99629 A=0.00371
gnomAD - Exomes Ashkenazi Jewish Sub 9786 G=1.0000 A=0.0000
gnomAD - Exomes Other Sub 5768 G=0.9998 A=0.0002
Allele Frequency Aggregator Total Global 111378 G=0.999937 A=0.000063, T=0.000000
Allele Frequency Aggregator European Sub 94892 G=0.99999 A=0.00001, T=0.00000
Allele Frequency Aggregator Other Sub 11050 G=0.99982 A=0.00018, T=0.00000
Allele Frequency Aggregator African Sub 4022 G=0.9990 A=0.0010, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 648 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
ExAC Global Study-wide 68874 G=0.99936 A=0.00064
ExAC Europe Sub 40256 G=0.99998 A=0.00002
ExAC Asian Sub 16340 G=0.99994 A=0.00006
ExAC African Sub 6002 G=0.9932 A=0.0068
ExAC American Sub 5798 G=0.9998 A=0.0002
ExAC Other Sub 478 G=1.000 A=0.000
GO Exome Sequencing Project Global Study-wide 12984 G=0.99854 A=0.00146
GO Exome Sequencing Project European American Sub 8596 G=1.0000 A=0.0000
GO Exome Sequencing Project African American Sub 4388 G=0.9957 A=0.0043
1000Genomes Global Study-wide 5008 G=0.9992 A=0.0008
1000Genomes African Sub 1322 G=0.9977 A=0.0023
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=1.0000 A=0.0000
1000Genomes South Asian Sub 978 G=1.000 A=0.000
1000Genomes American Sub 694 G=0.999 A=0.001
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.p13 chr 1 NC_000001.11:g.930282= NC_000001.11:g.930282G>A NC_000001.11:g.930282G>T
GRCh37.p13 chr 1 NC_000001.10:g.865662= NC_000001.10:g.865662G>A NC_000001.10:g.865662G>T
SAMD11 transcript variant 3 NM_152486.4:c.200= NM_152486.4:c.200G>A NM_152486.4:c.200G>T
SAMD11 transcript NM_152486.3:c.200= NM_152486.3:c.200G>A NM_152486.3:c.200G>T
SAMD11 transcript NM_152486.2:c.200= NM_152486.2:c.200G>A NM_152486.2:c.200G>T
SAMD11 transcript variant 2 NM_001385640.1:c.737= NM_001385640.1:c.737G>A NM_001385640.1:c.737G>T
SAMD11 transcript variant 1 NM_001385641.1:c.737= NM_001385641.1:c.737G>A NM_001385641.1:c.737G>T
sterile alpha motif domain-containing protein 11 isoform 3 NP_689699.3:p.Arg67= NP_689699.3:p.Arg67Gln NP_689699.3:p.Arg67Leu
sterile alpha motif domain-containing protein 11 isoform 2 NP_001372569.1:p.Arg246= NP_001372569.1:p.Arg246Gln NP_001372569.1:p.Arg246Leu
sterile alpha motif domain-containing protein 11 isoform 1 NP_001372570.1:p.Arg246= NP_001372570.1:p.Arg246Gln NP_001372570.1:p.Arg246Leu
sterile alpha motif domain-containing protein 11 NP_689699.2:p.Arg67= NP_689699.2:p.Arg67Gln NP_689699.2:p.Arg67Leu
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#.

30 SubSNP, 8 Frequency submissions
No Submitter Submission ID Date (Build)
1 NHLBI-ESP ss341923303 May 09, 2011 (134)
2 1000GENOMES ss487561403 May 04, 2012 (137)
3 EXOME_CHIP ss491283787 May 04, 2012 (137)
4 ILLUMINA ss780844724 Sep 08, 2015 (146)
5 ILLUMINA ss783528208 Sep 08, 2015 (146)
6 1000GENOMES ss1289342538 Aug 21, 2014 (142)
7 EVA_EXAC ss1685217303 Apr 01, 2015 (144)
8 ILLUMINA ss1751936477 Sep 08, 2015 (146)
9 ILLUMINA ss1917720780 Feb 12, 2016 (147)
10 ILLUMINA ss1945981599 Feb 12, 2016 (147)
11 ILLUMINA ss1958230150 Feb 12, 2016 (147)
12 HUMAN_LONGEVITY ss2159370737 Dec 20, 2016 (150)
13 TOPMED ss2321509487 Dec 20, 2016 (150)
14 GNOMAD ss2730986911 Nov 08, 2017 (151)
15 GNOMAD ss2746169451 Nov 08, 2017 (151)
16 GNOMAD ss2750649381 Nov 08, 2017 (151)
17 ILLUMINA ss3021043170 Nov 08, 2017 (151)
18 TOPMED ss3066421322 Nov 08, 2017 (151)
19 ILLUMINA ss3626006646 Oct 11, 2018 (152)
20 ILLUMINA ss3634301827 Oct 11, 2018 (152)
21 ILLUMINA ss3640009193 Oct 11, 2018 (152)
22 ILLUMINA ss3644477470 Oct 11, 2018 (152)
23 ILLUMINA ss3651365222 Oct 11, 2018 (152)
24 ILLUMINA ss3724988113 Jul 12, 2019 (153)
25 ILLUMINA ss3744337206 Jul 12, 2019 (153)
26 ILLUMINA ss3744602759 Jul 12, 2019 (153)
27 ILLUMINA ss3772104524 Jul 12, 2019 (153)
28 EVA ss3823541291 Apr 25, 2020 (154)
29 FSA-LAB ss3983910222 Apr 25, 2021 (155)
30 TOPMED ss4436458163 Apr 25, 2021 (155)
31 1000Genomes NC_000001.10 - 865662 Oct 11, 2018 (152)
32 ExAC NC_000001.10 - 865662 Oct 11, 2018 (152)
33 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 87238 (NC_000001.11:930281:G:A 131/140266)
Row 87239 (NC_000001.11:930281:G:T 1/140266)

- Apr 25, 2021 (155)
34 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 87238 (NC_000001.11:930281:G:A 131/140266)
Row 87239 (NC_000001.11:930281:G:T 1/140266)

- Apr 25, 2021 (155)
35 gnomAD - Exomes NC_000001.10 - 865662 Jul 12, 2019 (153)
36 GO Exome Sequencing Project NC_000001.10 - 865662 Oct 11, 2018 (152)
37 TopMed NC_000001.11 - 930282 Apr 25, 2021 (155)
38 ALFA NC_000001.11 - 930282 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
7397, 4390404, 1247, 28, ss341923303, ss487561403, ss491283787, ss780844724, ss783528208, ss1289342538, ss1685217303, ss1751936477, ss1917720780, ss1945981599, ss1958230150, ss2321509487, ss2730986911, ss2746169451, ss2750649381, ss3021043170, ss3626006646, ss3634301827, ss3640009193, ss3644477470, ss3651365222, ss3744337206, ss3744602759, ss3772104524, ss3823541291, ss3983910222 NC_000001.10:865661:G:A NC_000001.11:930281:G:A (self)
32446, 64498, 1609461637, ss2159370737, ss3066421322, ss3724988113, ss4436458163 NC_000001.11:930281:G:A NC_000001.11:930281:G:A (self)
ss2746169451, ss2750649381 NC_000001.10:865661:G:T NC_000001.11:930281:G:T (self)
1609461637 NC_000001.11:930281:G:T NC_000001.11:930281:G:T
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 rs140751899

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