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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.

rs11663216

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr18:13743213 (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=0.001983 (525/264690, TOPMED)
T=0.001796 (250/139228, GnomAD)
T=0.00222 (37/16700, ALFA) (+ 3 more)
T=0.0017 (11/6404, 1000G_30x)
T=0.0010 (5/5008, 1000G)
T=0.0025 (11/4478, Estonian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RNMT : Intron 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 16700 C=0.99778 T=0.00222
European Sub 12212 C=0.99722 T=0.00278
African Sub 2864 C=0.9993 T=0.0007
African Others Sub 108 C=1.000 T=0.000
African American Sub 2756 C=0.9993 T=0.0007
Asian Sub 108 C=1.000 T=0.000
East Asian Sub 84 C=1.00 T=0.00
Other Asian Sub 24 C=1.00 T=0.00
Latin American 1 Sub 146 C=1.000 T=0.000
Latin American 2 Sub 610 C=0.998 T=0.002
South Asian Sub 94 C=1.00 T=0.00
Other Sub 666 C=1.000 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=0.998017 T=0.001983
gnomAD - Genomes Global Study-wide 139228 C=0.998204 T=0.001796
gnomAD - Genomes European Sub 75286 C=0.99776 T=0.00224
gnomAD - Genomes African Sub 41786 C=0.99943 T=0.00057
gnomAD - Genomes American Sub 13586 C=0.99639 T=0.00361
gnomAD - Genomes Ashkenazi Jewish Sub 3308 C=0.9985 T=0.0015
gnomAD - Genomes East Asian Sub 3130 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2132 C=0.9986 T=0.0014
Allele Frequency Aggregator Total Global 16700 C=0.99778 T=0.00222
Allele Frequency Aggregator European Sub 12212 C=0.99722 T=0.00278
Allele Frequency Aggregator African Sub 2864 C=0.9993 T=0.0007
Allele Frequency Aggregator Other Sub 666 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 2 Sub 610 C=0.998 T=0.002
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 T=0.000
Allele Frequency Aggregator Asian Sub 108 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 94 C=1.00 T=0.00
1000Genomes_30x Global Study-wide 6404 C=0.9983 T=0.0017
1000Genomes_30x African Sub 1786 C=0.9978 T=0.0022
1000Genomes_30x Europe Sub 1266 C=1.0000 T=0.0000
1000Genomes_30x South Asian Sub 1202 C=1.0000 T=0.0000
1000Genomes_30x East Asian Sub 1170 C=1.0000 T=0.0000
1000Genomes_30x American Sub 980 C=0.993 T=0.007
1000Genomes Global Study-wide 5008 C=0.9990 T=0.0010
1000Genomes African Sub 1322 C=0.9992 T=0.0008
1000Genomes East Asian Sub 1008 C=1.0000 T=0.0000
1000Genomes Europe Sub 1006 C=1.0000 T=0.0000
1000Genomes South Asian Sub 978 C=1.000 T=0.000
1000Genomes American Sub 694 C=0.994 T=0.006
Genetic variation in the Estonian population Estonian Study-wide 4478 C=0.9975 T=0.0025
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 18 NC_000018.10:g.13743213C>T
GRCh37.p13 chr 18 NC_000018.9:g.13743212C>T
Gene: RNMT, RNA guanine-7 methyltransferase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
RNMT transcript variant 1 NM_001308263.2:c.1139+561…

NM_001308263.2:c.1139+561C>T

N/A Intron Variant
RNMT transcript variant 3 NM_001378132.1:c.605+561C…

NM_001378132.1:c.605+561C>T

N/A Intron Variant
RNMT transcript variant 4 NM_001378134.1:c.1139+561…

NM_001378134.1:c.1139+561C>T

N/A Intron Variant
RNMT transcript variant 5 NM_001378135.1:c.1139+561…

NM_001378135.1:c.1139+561C>T

N/A Intron Variant
RNMT transcript variant 2 NM_003799.3:c.1139+561C>T N/A Intron Variant
RNMT transcript variant 6 NR_165427.1:n. N/A Intron Variant
RNMT transcript variant X1 XM_011525749.3:c.1139+561…

XM_011525749.3:c.1139+561C>T

N/A Intron Variant
RNMT transcript variant X2 XM_011525750.3:c.1139+561…

XM_011525750.3:c.1139+561C>T

N/A Intron Variant
RNMT transcript variant X3 XM_011525751.2:c.1139+561…

XM_011525751.2:c.1139+561C>T

N/A Intron Variant
RNMT transcript variant X6 XM_011525753.3:c.605+561C…

XM_011525753.3:c.605+561C>T

N/A Intron Variant
RNMT transcript variant X4 XM_047437907.1:c.1139+561…

XM_047437907.1:c.1139+561C>T

N/A Intron Variant
RNMT transcript variant X5 XM_047437908.1:c.1139+561…

XM_047437908.1:c.1139+561C>T

N/A Intron 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 18 NC_000018.10:g.13743213= NC_000018.10:g.13743213C>T
GRCh37.p13 chr 18 NC_000018.9:g.13743212= NC_000018.9:g.13743212C>T
RNMT transcript variant 1 NM_001308263.2:c.1139+561= NM_001308263.2:c.1139+561C>T
RNMT transcript variant 3 NM_001378132.1:c.605+561= NM_001378132.1:c.605+561C>T
RNMT transcript variant 4 NM_001378134.1:c.1139+561= NM_001378134.1:c.1139+561C>T
RNMT transcript variant 5 NM_001378135.1:c.1139+561= NM_001378135.1:c.1139+561C>T
RNMT transcript NM_003799.1:c.1139+561= NM_003799.1:c.1139+561C>T
RNMT transcript variant 2 NM_003799.3:c.1139+561= NM_003799.3:c.1139+561C>T
RNMT transcript variant X1 XM_005258160.1:c.1139+561= XM_005258160.1:c.1139+561C>T
RNMT transcript variant X2 XM_005258161.1:c.1139+561= XM_005258161.1:c.1139+561C>T
RNMT transcript variant X5 XM_005258162.1:c.1139+561= XM_005258162.1:c.1139+561C>T
RNMT transcript variant X4 XM_005258163.1:c.605+561= XM_005258163.1:c.605+561C>T
RNMT transcript variant X1 XM_011525749.3:c.1139+561= XM_011525749.3:c.1139+561C>T
RNMT transcript variant X2 XM_011525750.3:c.1139+561= XM_011525750.3:c.1139+561C>T
RNMT transcript variant X3 XM_011525751.2:c.1139+561= XM_011525751.2:c.1139+561C>T
RNMT transcript variant X6 XM_011525753.3:c.605+561= XM_011525753.3:c.605+561C>T
RNMT transcript variant X4 XM_047437907.1:c.1139+561= XM_047437907.1:c.1139+561C>T
RNMT transcript variant X5 XM_047437908.1:c.1139+561= XM_047437908.1:c.1139+561C>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#.

19 SubSNP, 6 Frequency submissions
No Submitter Submission ID Date (Build)
1 CSHL-HAPMAP ss16776703 Feb 28, 2004 (120)
2 ABI ss40946980 Mar 14, 2006 (126)
3 ENSEMBL ss161845771 Dec 01, 2009 (131)
4 1000GENOMES ss465151551 Sep 17, 2011 (135)
5 1000GENOMES ss1360227658 Aug 21, 2014 (142)
6 GNOMAD ss2954375989 Nov 08, 2017 (151)
7 SWEGEN ss3016197208 Nov 08, 2017 (151)
8 CSHL ss3351931392 Nov 08, 2017 (151)
9 EGCUT_WGS ss3683053191 Jul 13, 2019 (153)
10 EVA ss3755150832 Jul 13, 2019 (153)
11 TOPMED ss5049516000 Apr 27, 2021 (155)
12 1000G_HIGH_COVERAGE ss5304558604 Oct 16, 2022 (156)
13 EVA ss5430137675 Oct 16, 2022 (156)
14 HUGCELL_USP ss5497450720 Oct 16, 2022 (156)
15 1000G_HIGH_COVERAGE ss5608932656 Oct 16, 2022 (156)
16 SANFORD_IMAGENETICS ss5660898889 Oct 16, 2022 (156)
17 EVA ss5827274783 Oct 16, 2022 (156)
18 EVA ss5873294904 Oct 16, 2022 (156)
19 EVA ss5952301795 Oct 16, 2022 (156)
20 1000Genomes NC_000018.9 - 13743212 Oct 12, 2018 (152)
21 1000Genomes_30x NC_000018.10 - 13743213 Oct 16, 2022 (156)
22 Genetic variation in the Estonian population NC_000018.9 - 13743212 Oct 12, 2018 (152)
23 gnomAD - Genomes NC_000018.10 - 13743213 Apr 27, 2021 (155)
24 TopMed NC_000018.10 - 13743213 Apr 27, 2021 (155)
25 ALFA NC_000018.10 - 13743213 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
73529013, 28791439, ss465151551, ss1360227658, ss2954375989, ss3016197208, ss3351931392, ss3683053191, ss3755150832, ss5430137675, ss5660898889, ss5827274783, ss5952301795 NC_000018.9:13743211:C:T NC_000018.10:13743212:C:T (self)
96458591, 518674262, 265061663, 11702611410, ss5049516000, ss5304558604, ss5497450720, ss5608932656, ss5873294904 NC_000018.10:13743212:C:T NC_000018.10:13743212:C:T (self)
ss16776703 NT_010859.13:13733211:C:T NC_000018.10:13743212:C:T (self)
ss40946980, ss161845771 NT_010859.14:13733211:C:T NC_000018.10:13743212: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 rs11663216

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