Name: rs74704193
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.

rs74704193

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr5:141967670 (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=0.001764 (467/264690, TOPMED)
T=0.002011 (282/140206, GnomAD)
T=0.00265 (80/30218, ALFA) (+ 7 more)
T=0.0012 (8/6404, 1000G_30x)
T=0.0010 (5/5008, 1000G)
T=0.0018 (8/4480, Estonian)
T=0.0036 (14/3854, ALSPAC)
T=0.0027 (10/3708, TWINSUK)
T=0.006 (6/998, GoNL)
T=0.003 (2/600, NorthernSweden)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: RNF14 : Intron Variant
LOC124901095 : 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	30218	C=0.99735	T=0.00265
European	Sub	24734	C=0.99705	T=0.00295
African	Sub	3168	C=0.9987	T=0.0013
African Others	Sub	124	C=1.000	T=0.000
African American	Sub	3044	C=0.9987	T=0.0013
Asian	Sub	128	C=1.000	T=0.000
East Asian	Sub	100	C=1.00	T=0.00
Other Asian	Sub	28	C=1.00	T=0.00
Latin American 1	Sub	168	C=1.000	T=0.000
Latin American 2	Sub	700	C=1.000	T=0.000
South Asian	Sub	114	C=1.000	T=0.000
Other	Sub	1206	C=0.9975	T=0.0025

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	C=0.998236	T=0.001764
gnomAD - Genomes	Global	Study-wide	140206	C=0.997989	T=0.002011
gnomAD - Genomes	European	Sub	75942	C=0.99702	T=0.00298
gnomAD - Genomes	African	Sub	42014	C=0.99924	T=0.00076
gnomAD - Genomes	American	Sub	13650	C=0.99883	T=0.00117
gnomAD - Genomes	Ashkenazi Jewish	Sub	3316	C=0.9982	T=0.0018
gnomAD - Genomes	East Asian	Sub	3130	C=1.0000	T=0.0000
gnomAD - Genomes	Other	Sub	2154	C=0.9991	T=0.0009
Allele Frequency Aggregator	Total	Global	30218	C=0.99735	T=0.00265
Allele Frequency Aggregator	European	Sub	24734	C=0.99705	T=0.00295
Allele Frequency Aggregator	African	Sub	3168	C=0.9987	T=0.0013
Allele Frequency Aggregator	Other	Sub	1206	C=0.9975	T=0.0025
Allele Frequency Aggregator	Latin American 2	Sub	700	C=1.000	T=0.000
Allele Frequency Aggregator	Latin American 1	Sub	168	C=1.000	T=0.000
Allele Frequency Aggregator	Asian	Sub	128	C=1.000	T=0.000
Allele Frequency Aggregator	South Asian	Sub	114	C=1.000	T=0.000
1000Genomes_30x	Global	Study-wide	6404	C=0.9988	T=0.0012
1000Genomes_30x	African	Sub	1786	C=1.0000	T=0.0000
1000Genomes_30x	Europe	Sub	1266	C=0.9953	T=0.0047
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=0.998	T=0.002
1000Genomes	Global	Study-wide	5008	C=0.9990	T=0.0010
1000Genomes	African	Sub	1322	C=1.0000	T=0.0000
1000Genomes	East Asian	Sub	1008	C=1.0000	T=0.0000
1000Genomes	Europe	Sub	1006	C=0.9960	T=0.0040
1000Genomes	South Asian	Sub	978	C=1.000	T=0.000
1000Genomes	American	Sub	694	C=0.999	T=0.001
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.9982	T=0.0018
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.9964	T=0.0036
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.9973	T=0.0027
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.994	T=0.006
Northern Sweden	ACPOP	Study-wide	600	C=0.997	T=0.003

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 5	NC_000005.10:g.141967670C>T
GRCh37.p13 chr 5	NC_000005.9:g.141347235C>T

Gene: RNF14, ring finger protein 14 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RNF14 transcript variant 6	NM_001201365.2:c.-181+766… NM_001201365.2:c.-181+766C>T	N/A	Intron Variant
RNF14 transcript variant 3	NM_183399.3:c.-7+766C>T	N/A	Intron Variant
RNF14 transcript variant 1	NM_004290.5:c.	N/A	Genic Upstream Transcript Variant
RNF14 transcript variant 2	NM_183398.3:c.	N/A	Genic Upstream Transcript Variant
RNF14 transcript variant 4	NM_183400.3:c.	N/A	Genic Upstream Transcript Variant
RNF14 transcript variant 5	NM_183401.3:c.	N/A	Genic Upstream Transcript Variant
RNF14 transcript variant X13	XM_024446265.2:c.-181+766… XM_024446265.2:c.-181+766C>T	N/A	Intron Variant
RNF14 transcript variant X1	XM_047417898.1:c.-435+766… XM_047417898.1:c.-435+766C>T	N/A	Intron Variant
RNF14 transcript variant X2	XM_047417899.1:c.-502+766… XM_047417899.1:c.-502+766C>T	N/A	Intron Variant
RNF14 transcript variant X6	XM_047417903.1:c.-180-303… XM_047417903.1:c.-180-3034C>T	N/A	Intron Variant
RNF14 transcript variant X7	XM_047417904.1:c.-180-303… XM_047417904.1:c.-180-3034C>T	N/A	Intron Variant
RNF14 transcript variant X8	XM_047417905.1:c.-261+766… XM_047417905.1:c.-261+766C>T	N/A	Intron Variant
RNF14 transcript variant X10	XM_047417906.1:c.-435+766… XM_047417906.1:c.-435+766C>T	N/A	Intron Variant
RNF14 transcript variant X11	XM_047417907.1:c.-502+766… XM_047417907.1:c.-502+766C>T	N/A	Intron Variant
RNF14 transcript variant X14	XM_047417908.1:c.-180-303… XM_047417908.1:c.-180-3034C>T	N/A	Intron Variant
RNF14 transcript variant X16	XM_047417909.1:c.-261+766… XM_047417909.1:c.-261+766C>T	N/A	Intron Variant
RNF14 transcript variant X9	XM_011537714.4:c.	N/A	Genic Upstream Transcript Variant
RNF14 transcript variant X12	XM_017010074.3:c.	N/A	Genic Upstream Transcript Variant
RNF14 transcript variant X15	XM_017010075.3:c.	N/A	Genic Upstream Transcript Variant
RNF14 transcript variant X3	XM_047417900.1:c.	N/A	Genic Upstream Transcript Variant
RNF14 transcript variant X4	XM_047417901.1:c.	N/A	Genic Upstream Transcript Variant
RNF14 transcript variant X5	XM_047417902.1:c.	N/A	Genic Upstream Transcript Variant
RNF14 transcript variant X17	XM_047417910.1:c.	N/A	Genic Upstream Transcript Variant

Gene: LOC124901095, uncharacterized LOC124901095 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC124901095 transcript variant X2	XR_007058977.1:n.	N/A	Intron Variant
LOC124901095 transcript variant X1	XR_007058976.1:n.	N/A	Genic Upstream Transcript 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	C=	T
GRCh38.p14 chr 5	NC_000005.10:g.141967670=	NC_000005.10:g.141967670C>T
GRCh37.p13 chr 5	NC_000005.9:g.141347235=	NC_000005.9:g.141347235C>T
RNF14 transcript variant 6	NM_001201365.1:c.-181+766=	NM_001201365.1:c.-181+766C>T
RNF14 transcript variant 6	NM_001201365.2:c.-181+766=	NM_001201365.2:c.-181+766C>T
RNF14 transcript variant 3	NM_183399.2:c.-7+766=	NM_183399.2:c.-7+766C>T
RNF14 transcript variant 3	NM_183399.3:c.-7+766=	NM_183399.3:c.-7+766C>T
RNF14 transcript variant X13	XM_024446265.2:c.-181+766=	XM_024446265.2:c.-181+766C>T
RNF14 transcript variant X1	XM_047417898.1:c.-435+766=	XM_047417898.1:c.-435+766C>T
RNF14 transcript variant X2	XM_047417899.1:c.-502+766=	XM_047417899.1:c.-502+766C>T
RNF14 transcript variant X6	XM_047417903.1:c.-180-3034=	XM_047417903.1:c.-180-3034C>T
RNF14 transcript variant X7	XM_047417904.1:c.-180-3034=	XM_047417904.1:c.-180-3034C>T
RNF14 transcript variant X8	XM_047417905.1:c.-261+766=	XM_047417905.1:c.-261+766C>T
RNF14 transcript variant X10	XM_047417906.1:c.-435+766=	XM_047417906.1:c.-435+766C>T
RNF14 transcript variant X11	XM_047417907.1:c.-502+766=	XM_047417907.1:c.-502+766C>T
RNF14 transcript variant X14	XM_047417908.1:c.-180-3034=	XM_047417908.1:c.-180-3034C>T
RNF14 transcript variant X16	XM_047417909.1:c.-261+766=	XM_047417909.1:c.-261+766C>T

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, 10 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	1000GENOMES	ss233174168	Jul 14, 2010 (132)
2	ILLUMINA	ss483230615	May 04, 2012 (137)
3	ILLUMINA	ss484948302	May 04, 2012 (137)
4	ILLUMINA	ss535449597	Sep 08, 2015 (146)
5	ILLUMINA	ss780199823	Sep 08, 2015 (146)
6	ILLUMINA	ss782058770	Sep 08, 2015 (146)
7	ILLUMINA	ss835684388	Sep 08, 2015 (146)
8	EVA-GONL	ss982195338	Aug 21, 2014 (142)
9	1000GENOMES	ss1317499575	Aug 21, 2014 (142)
10	EVA_DECODE	ss1591724925	Apr 01, 2015 (144)
11	EVA_UK10K_ALSPAC	ss1614162996	Apr 01, 2015 (144)
12	EVA_UK10K_TWINSUK	ss1657157029	Apr 01, 2015 (144)
13	HUMAN_LONGEVITY	ss2278750597	Dec 20, 2016 (150)
14	ILLUMINA	ss2634348312	Nov 08, 2017 (151)
15	GNOMAD	ss2831596911	Nov 08, 2017 (151)
16	SWEGEN	ss2997905703	Nov 08, 2017 (151)
17	ILLUMINA	ss3629357288	Oct 12, 2018 (152)
18	ILLUMINA	ss3632271866	Oct 12, 2018 (152)
19	ILLUMINA	ss3642449032	Oct 12, 2018 (152)
20	EGCUT_WGS	ss3665821797	Jul 13, 2019 (153)
21	EVA_DECODE	ss3715837171	Jul 13, 2019 (153)
22	ACPOP	ss3732875473	Jul 13, 2019 (153)
23	EVA	ss3829536954	Apr 26, 2020 (154)
24	TOPMED	ss4681230201	Apr 26, 2021 (155)
25	1000G_HIGH_COVERAGE	ss5266090265	Oct 13, 2022 (156)
26	EVA	ss5361419838	Oct 13, 2022 (156)
27	HUGCELL_USP	ss5464030904	Oct 13, 2022 (156)
28	1000G_HIGH_COVERAGE	ss5550867782	Oct 13, 2022 (156)
29	EVA	ss5896608921	Oct 13, 2022 (156)
30	EVA	ss5967494167	Oct 13, 2022 (156)
31	1000Genomes	NC_000005.9 - 141347235	Oct 12, 2018 (152)
32	1000Genomes_30x	NC_000005.10 - 141967670	Oct 13, 2022 (156)
33	The Avon Longitudinal Study of Parents and Children	NC_000005.9 - 141347235	Oct 12, 2018 (152)
34	Genetic variation in the Estonian population	NC_000005.9 - 141347235	Oct 12, 2018 (152)
35	gnomAD - Genomes	NC_000005.10 - 141967670	Apr 26, 2021 (155)
36	Genome of the Netherlands Release 5	NC_000005.9 - 141347235	Apr 26, 2020 (154)
37	Northern Sweden	NC_000005.9 - 141347235	Jul 13, 2019 (153)
38	TopMed	NC_000005.10 - 141967670	Apr 26, 2021 (155)
39	UK 10K study - Twins	NC_000005.9 - 141347235	Oct 12, 2018 (152)
40	ALFA	NC_000005.10 - 141967670	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss484948302, ss1591724925	NC_000005.8:141327418:C:T	NC_000005.10:141967669:C:T	(self)
29188097, 16237148, 11560045, 7212216, 6160338, 16237148, ss233174168, ss483230615, ss535449597, ss780199823, ss782058770, ss835684388, ss982195338, ss1317499575, ss1614162996, ss1657157029, ss2634348312, ss2831596911, ss2997905703, ss3629357288, ss3632271866, ss3642449032, ss3665821797, ss3732875473, ss3829536954, ss5361419838, ss5967494167	NC_000005.9:141347234:C:T	NC_000005.10:141967669:C:T	(self)
38393717, 206484866, 518607758, 11994484478, ss2278750597, ss3715837171, ss4681230201, ss5266090265, ss5464030904, ss5550867782, ss5896608921	NC_000005.10:141967669:C:T	NC_000005.10:141967669:C:T	(self)

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

No publications for rs74704193

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

rs74704193