Name: rs16850918
Published: September 21, 2022
License: Open Access

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.

rs16850918

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:74319044 (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: A>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.067260 (17803/264690, TOPMED)
G=0.061016 (8554/140192, GnomAD)
G=0.03074 (1754/57062, ALFA) (+ 17 more)
G=0.05011 (1416/28258, 14KJPN)
G=0.04928 (826/16760, 8.3KJPN)
G=0.0892 (571/6404, 1000G_30x)
G=0.0885 (443/5008, 1000G)
G=0.0105 (47/4480, Estonian)
G=0.0140 (54/3854, ALSPAC)
G=0.0073 (27/3708, TWINSUK)
G=0.0648 (190/2930, KOREAN)
G=0.0729 (152/2084, HGDP_Stanford)
G=0.1110 (210/1892, HapMap)
G=0.0529 (97/1832, Korea1K)
G=0.010 (10/998, GoNL)
G=0.012 (7/600, NorthernSweden)
G=0.042 (9/216, Qatari)
G=0.047 (10/214, Vietnamese)
A=0.46 (42/92, SGDP_PRJ)
G=0.05 (2/38, Ancient Sardinia)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: LOC105377276 : Intron Variant
Publications: 1 citation
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	57062	A=0.96926	G=0.03074	0.941222	0.002699	0.056079	32
European	Sub	44676	A=0.98796	G=0.01204	0.97605	0.000134	0.023816	0
African	Sub	4480	A=0.8368	G=0.1632	0.700446	0.026786	0.272768	0
African Others	Sub	170	A=0.824	G=0.176	0.658824	0.011765	0.329412	1
African American	Sub	4310	A=0.8374	G=0.1626	0.702088	0.027378	0.270534	0
Asian	Sub	178	A=0.944	G=0.056	0.88764	0.0	0.11236	0
East Asian	Sub	140	A=0.950	G=0.050	0.9	0.0	0.1	0
Other Asian	Sub	38	A=0.92	G=0.08	0.842105	0.0	0.157895	0
Latin American 1	Sub	250	A=0.944	G=0.056	0.888	0.0	0.112	0
Latin American 2	Sub	1228	A=0.9503	G=0.0497	0.900651	0.0	0.099349	1
South Asian	Sub	4928	A=0.9314	G=0.0686	0.868101	0.005276	0.126623	0
Other	Sub	1322	A=0.9531	G=0.0469	0.907716	0.001513	0.090772	0

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	A=0.932740	G=0.067260
gnomAD - Genomes	Global	Study-wide	140192	A=0.938984	G=0.061016
gnomAD - Genomes	European	Sub	75952	A=0.98819	G=0.01181
gnomAD - Genomes	African	Sub	41980	A=0.84111	G=0.15889
gnomAD - Genomes	American	Sub	13658	A=0.94992	G=0.05008
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	A=0.9964	G=0.0036
gnomAD - Genomes	East Asian	Sub	3134	A=0.9486	G=0.0514
gnomAD - Genomes	Other	Sub	2146	A=0.9394	G=0.0606
Allele Frequency Aggregator	Total	Global	57062	A=0.96926	G=0.03074
Allele Frequency Aggregator	European	Sub	44676	A=0.98796	G=0.01204
Allele Frequency Aggregator	South Asian	Sub	4928	A=0.9314	G=0.0686
Allele Frequency Aggregator	African	Sub	4480	A=0.8368	G=0.1632
Allele Frequency Aggregator	Other	Sub	1322	A=0.9531	G=0.0469
Allele Frequency Aggregator	Latin American 2	Sub	1228	A=0.9503	G=0.0497
Allele Frequency Aggregator	Latin American 1	Sub	250	A=0.944	G=0.056
Allele Frequency Aggregator	Asian	Sub	178	A=0.944	G=0.056
14KJPN	JAPANESE	Study-wide	28258	A=0.94989	G=0.05011
8.3KJPN	JAPANESE	Study-wide	16760	A=0.95072	G=0.04928
1000Genomes_30x	Global	Study-wide	6404	A=0.9108	G=0.0892
1000Genomes_30x	African	Sub	1786	A=0.8219	G=0.1781
1000Genomes_30x	Europe	Sub	1266	A=0.9834	G=0.0166
1000Genomes_30x	South Asian	Sub	1202	A=0.9085	G=0.0915
1000Genomes_30x	East Asian	Sub	1170	A=0.9419	G=0.0581
1000Genomes_30x	American	Sub	980	A=0.945	G=0.055
1000Genomes	Global	Study-wide	5008	A=0.9115	G=0.0885
1000Genomes	African	Sub	1322	A=0.8200	G=0.1800
1000Genomes	East Asian	Sub	1008	A=0.9375	G=0.0625
1000Genomes	Europe	Sub	1006	A=0.9851	G=0.0149
1000Genomes	South Asian	Sub	978	A=0.908	G=0.092
1000Genomes	American	Sub	694	A=0.947	G=0.053
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.9895	G=0.0105
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.9860	G=0.0140
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.9927	G=0.0073
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.9352	G=0.0648
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	A=0.9271	G=0.0729
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	A=0.960	G=0.040
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	A=0.949	G=0.051
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	A=0.954	G=0.046
HGDP-CEPH-db Supplement 1	Europe	Sub	320	A=0.997	G=0.003
HGDP-CEPH-db Supplement 1	Africa	Sub	242	A=0.785	G=0.215
HGDP-CEPH-db Supplement 1	America	Sub	216	A=0.852	G=0.148
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	A=0.85	G=0.15
HapMap	Global	Study-wide	1892	A=0.8890	G=0.1110
HapMap	American	Sub	770	A=0.930	G=0.070
HapMap	African	Sub	692	A=0.809	G=0.191
HapMap	Asian	Sub	254	A=0.913	G=0.087
HapMap	Europe	Sub	176	A=0.989	G=0.011
Korean Genome Project	KOREAN	Study-wide	1832	A=0.9471	G=0.0529
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.990	G=0.010
Northern Sweden	ACPOP	Study-wide	600	A=0.988	G=0.012
Qatari	Global	Study-wide	216	A=0.958	G=0.042
A Vietnamese Genetic Variation Database	Global	Study-wide	214	A=0.953	G=0.047
SGDP_PRJ	Global	Study-wide	92	A=0.46	G=0.54
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	38	A=0.95	G=0.05

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 4	NC_000004.12:g.74319044A>G
GRCh37.p13 chr 4	NC_000004.11:g.75184761A>G

Gene: LOC105377276, uncharacterized LOC105377276 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105377276 transcript variant X1	XR_938877.3:n.	N/A	Intron Variant

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

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	A=	G
GRCh38.p14 chr 4	NC_000004.12:g.74319044=	NC_000004.12:g.74319044A>G
GRCh37.p13 chr 4	NC_000004.11:g.75184761=	NC_000004.11:g.75184761A>G

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#.

67 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	PERLEGEN	ss23258708	Sep 20, 2004 (123)
2	ILLUMINA	ss67149773	Nov 29, 2006 (127)
3	ILLUMINA	ss67493177	Nov 29, 2006 (127)
4	ILLUMINA	ss68162458	Dec 12, 2006 (127)
5	ILLUMINA	ss70640864	May 26, 2008 (130)
6	ILLUMINA	ss71192707	May 16, 2007 (127)
7	ILLUMINA	ss75845404	Dec 07, 2007 (129)
8	KRIBB_YJKIM	ss85326878	Dec 15, 2007 (130)
9	ILLUMINA	ss153558943	Dec 01, 2009 (131)
10	GMI	ss157455712	Dec 01, 2009 (131)
11	ILLUMINA	ss159293673	Dec 01, 2009 (131)
12	ILLUMINA	ss172630301	Jul 04, 2010 (132)
13	BUSHMAN	ss198700374	Jul 04, 2010 (132)
14	1000GENOMES	ss221001859	Jul 14, 2010 (132)
15	1000GENOMES	ss239728916	Jul 15, 2010 (132)
16	GMI	ss277778407	May 04, 2012 (137)
17	ILLUMINA	ss536910117	Sep 08, 2015 (146)
18	TISHKOFF	ss557603939	Apr 25, 2013 (138)
19	SSMP	ss651413359	Apr 25, 2013 (138)
20	ILLUMINA	ss832805777	Jul 13, 2019 (153)
21	EVA-GONL	ss980260740	Aug 21, 2014 (142)
22	JMKIDD_LAB	ss1071648545	Aug 21, 2014 (142)
23	1000GENOMES	ss1310288206	Aug 21, 2014 (142)
24	EVA_DECODE	ss1589759639	Apr 01, 2015 (144)
25	EVA_UK10K_ALSPAC	ss1610364527	Apr 01, 2015 (144)
26	EVA_UK10K_TWINSUK	ss1653358560	Apr 01, 2015 (144)
27	EVA_SVP	ss1712681269	Apr 01, 2015 (144)
28	HAMMER_LAB	ss1801657379	Sep 08, 2015 (146)
29	WEILL_CORNELL_DGM	ss1923503310	Feb 12, 2016 (147)
30	GENOMED	ss1969776207	Jul 19, 2016 (147)
31	JJLAB	ss2022337331	Sep 14, 2016 (149)
32	HUMAN_LONGEVITY	ss2263967469	Dec 20, 2016 (150)
33	SYSTEMSBIOZJU	ss2625668465	Nov 08, 2017 (151)
34	GRF	ss2705938428	Nov 08, 2017 (151)
35	GNOMAD	ss2810866048	Nov 08, 2017 (151)
36	SWEGEN	ss2994924862	Nov 08, 2017 (151)
37	ILLUMINA	ss3628990951	Oct 12, 2018 (152)
38	ILLUMINA	ss3638492803	Oct 12, 2018 (152)
39	ILLUMINA	ss3639249037	Oct 12, 2018 (152)
40	ILLUMINA	ss3639923332	Oct 12, 2018 (152)
41	ILLUMINA	ss3643443639	Oct 12, 2018 (152)
42	ILLUMINA	ss3643969508	Oct 12, 2018 (152)
43	EGCUT_WGS	ss3662808182	Jul 13, 2019 (153)
44	EVA_DECODE	ss3712316050	Jul 13, 2019 (153)
45	ACPOP	ss3731270864	Jul 13, 2019 (153)
46	EVA	ss3761962692	Jul 13, 2019 (153)
47	KHV_HUMAN_GENOMES	ss3805104400	Jul 13, 2019 (153)
48	EVA	ss3828612924	Apr 26, 2020 (154)
49	HGDP	ss3847753848	Apr 26, 2020 (154)
50	SGDP_PRJ	ss3859244887	Apr 26, 2020 (154)
51	KRGDB	ss3905500319	Apr 26, 2020 (154)
52	KOGIC	ss3954427230	Apr 26, 2020 (154)
53	EVA	ss3985075915	Apr 26, 2021 (155)
54	EVA	ss4017151481	Apr 26, 2021 (155)
55	TOPMED	ss4618546138	Apr 26, 2021 (155)
56	TOMMO_GENOMICS	ss5166317793	Apr 26, 2021 (155)
57	1000G_HIGH_COVERAGE	ss5259681213	Oct 13, 2022 (156)
58	EVA	ss5349872392	Oct 13, 2022 (156)
59	HUGCELL_USP	ss5458387961	Oct 13, 2022 (156)
60	EVA	ss5507571069	Oct 13, 2022 (156)
61	1000G_HIGH_COVERAGE	ss5541024437	Oct 13, 2022 (156)
62	SANFORD_IMAGENETICS	ss5635314593	Oct 13, 2022 (156)
63	TOMMO_GENOMICS	ss5700830002	Oct 13, 2022 (156)
64	YY_MCH	ss5805205864	Oct 13, 2022 (156)
65	EVA	ss5844183491	Oct 13, 2022 (156)
66	EVA	ss5863984804	Oct 13, 2022 (156)
67	EVA	ss5963691442	Oct 13, 2022 (156)
68	1000Genomes	NC_000004.11 - 75184761	Oct 12, 2018 (152)
69	1000Genomes_30x	NC_000004.12 - 74319044	Oct 13, 2022 (156)
70	The Avon Longitudinal Study of Parents and Children	NC_000004.11 - 75184761	Oct 12, 2018 (152)
71	Genetic variation in the Estonian population	NC_000004.11 - 75184761	Oct 12, 2018 (152)
72	gnomAD - Genomes	NC_000004.12 - 74319044	Apr 26, 2021 (155)
73	Genome of the Netherlands Release 5	NC_000004.11 - 75184761	Apr 26, 2020 (154)
74	HGDP-CEPH-db Supplement 1	NC_000004.10 - 75403625	Apr 26, 2020 (154)
75	HapMap	NC_000004.12 - 74319044	Apr 26, 2020 (154)
76	KOREAN population from KRGDB	NC_000004.11 - 75184761	Apr 26, 2020 (154)
77	Korean Genome Project	NC_000004.12 - 74319044	Apr 26, 2020 (154)
78	Northern Sweden	NC_000004.11 - 75184761	Jul 13, 2019 (153)
79	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000004.11 - 75184761	Apr 26, 2021 (155)
80	Qatari	NC_000004.11 - 75184761	Apr 26, 2020 (154)
81	SGDP_PRJ	NC_000004.11 - 75184761	Apr 26, 2020 (154)
82	8.3KJPN	NC_000004.11 - 75184761	Apr 26, 2021 (155)
83	14KJPN	NC_000004.12 - 74319044	Oct 13, 2022 (156)
84	TopMed	NC_000004.12 - 74319044	Apr 26, 2021 (155)
85	UK 10K study - Twins	NC_000004.11 - 75184761	Oct 12, 2018 (152)
86	A Vietnamese Genetic Variation Database	NC_000004.11 - 75184761	Jul 13, 2019 (153)
87	ALFA	NC_000004.12 - 74319044	Apr 26, 2021 (155)

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).

Associated ID	History Updated (Build)
rs60576418	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3639249037, ss3639923332, ss3643969508	NC_000004.9:75549795:A:G	NC_000004.12:74319043:A:G	(self)
431740, ss198700374, ss277778407, ss1589759639, ss1712681269, ss3643443639, ss3847753848	NC_000004.10:75403624:A:G	NC_000004.12:74319043:A:G	(self)
21703398, 12064304, 8546430, 5328780, 12677713, 4555729, 301842, 5545240, 11261867, 24287100, 12064304, 2656696, ss221001859, ss239728916, ss536910117, ss557603939, ss651413359, ss832805777, ss980260740, ss1071648545, ss1310288206, ss1610364527, ss1653358560, ss1801657379, ss1923503310, ss1969776207, ss2022337331, ss2625668465, ss2705938428, ss2810866048, ss2994924862, ss3628990951, ss3638492803, ss3662808182, ss3731270864, ss3761962692, ss3828612924, ss3859244887, ss3905500319, ss3985075915, ss4017151481, ss5166317793, ss5349872392, ss5507571069, ss5635314593, ss5844183491, ss5963691442	NC_000004.11:75184760:A:G	NC_000004.12:74319043:A:G	(self)
28550372, 153743440, 2638683, 10805231, 34667106, 455923694, 9746770342, ss2263967469, ss3712316050, ss3805104400, ss3954427230, ss4618546138, ss5259681213, ss5458387961, ss5541024437, ss5700830002, ss5805205864, ss5863984804	NC_000004.12:74319043:A:G	NC_000004.12:74319043:A:G	(self)
ss23258708, ss67149773, ss67493177, ss68162458, ss70640864, ss71192707, ss75845404, ss85326878, ss153558943, ss157455712, ss159293673, ss172630301	NT_022778.16:15395427:A:G	NC_000004.12:74319043:A:G	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

1 citation for rs16850918

PMID	Title	Author	Year	Journal
22610502	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Kennedy RB et al.	2012	Human genetics

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs16850918