Name: rs61494112
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.

rs61494112

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:20992185 (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>A / C>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.211058 (55865/264690, TOPMED)
T=0.21523 (6082/28258, 14KJPN)
T=0.21480 (3600/16760, 8.3KJPN) (+ 14 more)
T=0.09620 (1387/14418, ALFA)
T=0.2208 (1414/6404, 1000G_30x)
T=0.2161 (1082/5008, 1000G)
T=0.1897 (850/4480, Estonian)
T=0.2224 (857/3854, ALSPAC)
T=0.2211 (820/3708, TWINSUK)
T=0.2721 (795/2922, KOREAN)
T=0.247 (247/998, GoNL)
T=0.242 (145/600, NorthernSweden)
C=0.407 (101/248, SGDP_PRJ)
T=0.306 (66/216, Qatari)
T=0.304 (65/214, Vietnamese)
T=0.25 (10/40, GENOME_DK)
C=0.37 (14/38, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: KCNIP4 : 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	14418	C=0.90380	A=0.00000, T=0.09620
European	Sub	11070	C=0.88040	A=0.00000, T=0.11960
African	Sub	2376	C=0.9941	A=0.0000, T=0.0059
African Others	Sub	102	C=1.000	A=0.000, T=0.000
African American	Sub	2274	C=0.9938	A=0.0000, T=0.0062
Asian	Sub	64	C=0.98	A=0.00, T=0.02
East Asian	Sub	42	C=0.98	A=0.00, T=0.02
Other Asian	Sub	22	C=1.00	A=0.00, T=0.00
Latin American 1	Sub	72	C=1.00	A=0.00, T=0.00
Latin American 2	Sub	266	C=1.000	A=0.000, T=0.000
South Asian	Sub	80	C=0.97	A=0.00, T=0.03
Other	Sub	490	C=0.906	A=0.000, T=0.094

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=0.788942	T=0.211058
14KJPN	JAPANESE	Study-wide	28258	C=0.78477	T=0.21523
8.3KJPN	JAPANESE	Study-wide	16760	C=0.78520	T=0.21480
Allele Frequency Aggregator	Total	Global	14418	C=0.90380	A=0.00000, T=0.09620
Allele Frequency Aggregator	European	Sub	11070	C=0.88040	A=0.00000, T=0.11960
Allele Frequency Aggregator	African	Sub	2376	C=0.9941	A=0.0000, T=0.0059
Allele Frequency Aggregator	Other	Sub	490	C=0.906	A=0.000, T=0.094
Allele Frequency Aggregator	Latin American 2	Sub	266	C=1.000	A=0.000, T=0.000
Allele Frequency Aggregator	South Asian	Sub	80	C=0.97	A=0.00, T=0.03
Allele Frequency Aggregator	Latin American 1	Sub	72	C=1.00	A=0.00, T=0.00
Allele Frequency Aggregator	Asian	Sub	64	C=0.98	A=0.00, T=0.02
1000Genomes_30x	Global	Study-wide	6404	C=0.7792	T=0.2208
1000Genomes_30x	African	Sub	1786	C=0.9082	T=0.0918
1000Genomes_30x	Europe	Sub	1266	C=0.7512	T=0.2488
1000Genomes_30x	South Asian	Sub	1202	C=0.8253	T=0.1747
1000Genomes_30x	East Asian	Sub	1170	C=0.7222	T=0.2778
1000Genomes_30x	American	Sub	980	C=0.592	T=0.408
1000Genomes	Global	Study-wide	5008	C=0.7839	T=0.2161
1000Genomes	African	Sub	1322	C=0.9107	T=0.0893
1000Genomes	East Asian	Sub	1008	C=0.7282	T=0.2718
1000Genomes	Europe	Sub	1006	C=0.7475	T=0.2525
1000Genomes	South Asian	Sub	978	C=0.832	T=0.168
1000Genomes	American	Sub	694	C=0.608	T=0.392
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.8103	T=0.1897
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.7776	T=0.2224
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.7789	T=0.2211
KOREAN population from KRGDB	KOREAN	Study-wide	2922	C=0.7279	G=0.0000, T=0.2721
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.753	T=0.247
Northern Sweden	ACPOP	Study-wide	600	C=0.758	T=0.242
SGDP_PRJ	Global	Study-wide	248	C=0.407	T=0.593
Qatari	Global	Study-wide	216	C=0.694	T=0.306
A Vietnamese Genetic Variation Database	Global	Study-wide	214	C=0.696	T=0.304
The Danish reference pan genome	Danish	Study-wide	40	C=0.75	T=0.25
Siberian	Global	Study-wide	38	C=0.37	T=0.63

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.20992185C>A
GRCh38.p14 chr 4	NC_000004.12:g.20992185C>G
GRCh38.p14 chr 4	NC_000004.12:g.20992185C>T
GRCh37.p13 chr 4	NC_000004.11:g.20993808C>A
GRCh37.p13 chr 4	NC_000004.11:g.20993808C>G
GRCh37.p13 chr 4	NC_000004.11:g.20993808C>T
KCNIP4 RefSeqGene	NG_052969.1:g.961567G>T
KCNIP4 RefSeqGene	NG_052969.1:g.961567G>C
KCNIP4 RefSeqGene	NG_052969.1:g.961567G>A

Gene: KCNIP4, potassium voltage-gated channel interacting protein 4 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
KCNIP4 transcript variant 5	NM_001035003.2:c.89-14151… NM_001035003.2:c.89-141518G>T	N/A	Intron Variant
KCNIP4 transcript variant 6	NM_001035004.2:c.-23-1415… NM_001035004.2:c.-23-141518G>T	N/A	Intron Variant
KCNIP4 transcript variant 1	NM_025221.6:c.62-109476G>T	N/A	Intron Variant
KCNIP4 transcript variant 2	NM_147181.4:c.62-141518G>T	N/A	Intron Variant
KCNIP4 transcript variant 3	NM_147182.4:c.-23-141518G… NM_147182.4:c.-23-141518G>T	N/A	Intron Variant
KCNIP4 transcript variant 4	NM_147183.3:c.101-141518G… NM_147183.3:c.101-141518G>T	N/A	Intron Variant
KCNIP4 transcript variant 7	NM_001363504.2:c.	N/A	Genic Upstream Transcript Variant
KCNIP4 transcript variant X1	XM_011513885.4:c.89-14151… XM_011513885.4:c.89-141518G>T	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	C=	A	G	T
GRCh38.p14 chr 4	NC_000004.12:g.20992185=	NC_000004.12:g.20992185C>A	NC_000004.12:g.20992185C>G	NC_000004.12:g.20992185C>T
GRCh37.p13 chr 4	NC_000004.11:g.20993808=	NC_000004.11:g.20993808C>A	NC_000004.11:g.20993808C>G	NC_000004.11:g.20993808C>T
KCNIP4 RefSeqGene	NG_052969.1:g.961567=	NG_052969.1:g.961567G>T	NG_052969.1:g.961567G>C	NG_052969.1:g.961567G>A
KCNIP4 transcript variant 5	NM_001035003.1:c.89-141518=	NM_001035003.1:c.89-141518G>T	NM_001035003.1:c.89-141518G>C	NM_001035003.1:c.89-141518G>A
KCNIP4 transcript variant 5	NM_001035003.2:c.89-141518=	NM_001035003.2:c.89-141518G>T	NM_001035003.2:c.89-141518G>C	NM_001035003.2:c.89-141518G>A
KCNIP4 transcript variant 6	NM_001035004.1:c.-23-141518=	NM_001035004.1:c.-23-141518G>T	NM_001035004.1:c.-23-141518G>C	NM_001035004.1:c.-23-141518G>A
KCNIP4 transcript variant 6	NM_001035004.2:c.-23-141518=	NM_001035004.2:c.-23-141518G>T	NM_001035004.2:c.-23-141518G>C	NM_001035004.2:c.-23-141518G>A
KCNIP4 transcript variant 1	NM_025221.5:c.62-109476=	NM_025221.5:c.62-109476G>T	NM_025221.5:c.62-109476G>C	NM_025221.5:c.62-109476G>A
KCNIP4 transcript variant 1	NM_025221.6:c.62-109476=	NM_025221.6:c.62-109476G>T	NM_025221.6:c.62-109476G>C	NM_025221.6:c.62-109476G>A
KCNIP4 transcript variant 2	NM_147181.3:c.62-141518=	NM_147181.3:c.62-141518G>T	NM_147181.3:c.62-141518G>C	NM_147181.3:c.62-141518G>A
KCNIP4 transcript variant 2	NM_147181.4:c.62-141518=	NM_147181.4:c.62-141518G>T	NM_147181.4:c.62-141518G>C	NM_147181.4:c.62-141518G>A
KCNIP4 transcript variant 3	NM_147182.3:c.-23-141518=	NM_147182.3:c.-23-141518G>T	NM_147182.3:c.-23-141518G>C	NM_147182.3:c.-23-141518G>A
KCNIP4 transcript variant 3	NM_147182.4:c.-23-141518=	NM_147182.4:c.-23-141518G>T	NM_147182.4:c.-23-141518G>C	NM_147182.4:c.-23-141518G>A
KCNIP4 transcript variant 4	NM_147183.3:c.101-141518=	NM_147183.3:c.101-141518G>T	NM_147183.3:c.101-141518G>C	NM_147183.3:c.101-141518G>A
KCNIP4 transcript variant X2	XM_005248189.1:c.101-141518=	XM_005248189.1:c.101-141518G>T	XM_005248189.1:c.101-141518G>C	XM_005248189.1:c.101-141518G>A
KCNIP4 transcript variant X4	XM_005248191.1:c.62-141518=	XM_005248191.1:c.62-141518G>T	XM_005248191.1:c.62-141518G>C	XM_005248191.1:c.62-141518G>A
KCNIP4 transcript variant X1	XM_011513885.4:c.89-141518=	XM_011513885.4:c.89-141518G>T	XM_011513885.4:c.89-141518G>C	XM_011513885.4:c.89-141518G>A

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#.

59 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss80280461	Dec 16, 2007 (129)
2	BGI	ss104046878	Dec 01, 2009 (131)
3	1000GENOMES	ss112976318	Jan 25, 2009 (130)
4	ILLUMINA-UK	ss116901712	Dec 01, 2009 (131)
5	GMI	ss156951752	Dec 01, 2009 (131)
6	COMPLETE_GENOMICS	ss166265579	Jul 04, 2010 (132)
7	1000GENOMES	ss220785845	Jul 14, 2010 (132)
8	1000GENOMES	ss232291989	Jul 14, 2010 (132)
9	1000GENOMES	ss239605701	Jul 15, 2010 (132)
10	BL	ss252978938	May 09, 2011 (134)
11	GMI	ss277605380	May 04, 2012 (137)
12	TISHKOFF	ss557361626	Apr 25, 2013 (138)
13	SSMP	ss651128913	Apr 25, 2013 (138)
14	EVA-GONL	ss979850760	Aug 21, 2014 (142)
15	JMKIDD_LAB	ss1071337213	Aug 21, 2014 (142)
16	1000GENOMES	ss1308747097	Aug 21, 2014 (142)
17	DDI	ss1429799713	Apr 01, 2015 (144)
18	EVA_GENOME_DK	ss1580448922	Apr 01, 2015 (144)
19	EVA_DECODE	ss1589340830	Apr 01, 2015 (144)
20	EVA_UK10K_ALSPAC	ss1609577249	Apr 01, 2015 (144)
21	EVA_UK10K_TWINSUK	ss1652571282	Apr 01, 2015 (144)
22	HAMMER_LAB	ss1801105364	Sep 08, 2015 (146)
23	WEILL_CORNELL_DGM	ss1923086609	Feb 12, 2016 (147)
24	GENOMED	ss1969678188	Jul 19, 2016 (147)
25	JJLAB	ss2022119208	Sep 14, 2016 (149)
26	USC_VALOUEV	ss2150229154	Dec 20, 2016 (150)
27	HUMAN_LONGEVITY	ss2261050020	Dec 20, 2016 (150)
28	SYSTEMSBIOZJU	ss2625560658	Nov 08, 2017 (151)
29	GRF	ss2705675348	Nov 08, 2017 (151)
30	GNOMAD	ss2806514360	Nov 08, 2017 (151)
31	SWEGEN	ss2994268302	Nov 08, 2017 (151)
32	BIOINF_KMB_FNS_UNIBA	ss3024828798	Nov 08, 2017 (151)
33	CSHL	ss3345583400	Nov 08, 2017 (151)
34	EGCUT_WGS	ss3662179289	Jul 13, 2019 (153)
35	EVA_DECODE	ss3711564508	Jul 13, 2019 (153)
36	ACPOP	ss3730927216	Jul 13, 2019 (153)
37	EVA	ss3761497573	Jul 13, 2019 (153)
38	PACBIO	ss3784641300	Jul 13, 2019 (153)
39	PACBIO	ss3790109105	Jul 13, 2019 (153)
40	PACBIO	ss3794984211	Jul 13, 2019 (153)
41	KHV_HUMAN_GENOMES	ss3804628917	Jul 13, 2019 (153)
42	EVA	ss3828410741	Apr 26, 2020 (154)
43	EVA	ss3837639376	Apr 26, 2020 (154)
44	EVA	ss3843073779	Apr 26, 2020 (154)
45	SGDP_PRJ	ss3858389414	Apr 26, 2020 (154)
46	KRGDB	ss3904545517	Apr 26, 2020 (154)
47	TOPMED	ss4605518318	Apr 26, 2021 (155)
48	TOMMO_GENOMICS	ss5164552856	Apr 26, 2021 (155)
49	1000G_HIGH_COVERAGE	ss5258320900	Oct 17, 2022 (156)
50	EVA	ss5347408508	Oct 17, 2022 (156)
51	HUGCELL_USP	ss5457191971	Oct 17, 2022 (156)
52	1000G_HIGH_COVERAGE	ss5538900252	Oct 17, 2022 (156)
53	SANFORD_IMAGENETICS	ss5634508843	Oct 17, 2022 (156)
54	TOMMO_GENOMICS	ss5698298568	Oct 17, 2022 (156)
55	YY_MCH	ss5804828807	Oct 17, 2022 (156)
56	EVA	ss5843660015	Oct 17, 2022 (156)
57	EVA	ss5854113360	Oct 17, 2022 (156)
58	EVA	ss5862461752	Oct 17, 2022 (156)
59	EVA	ss5962891464	Oct 17, 2022 (156)
60	1000Genomes	NC_000004.11 - 20993808	Oct 12, 2018 (152)
61	1000Genomes_30x	NC_000004.12 - 20992185	Oct 17, 2022 (156)
62	The Avon Longitudinal Study of Parents and Children	NC_000004.11 - 20993808	Oct 12, 2018 (152)
63	Genetic variation in the Estonian population	NC_000004.11 - 20993808	Oct 12, 2018 (152)
64	The Danish reference pan genome	NC_000004.11 - 20993808	Apr 26, 2020 (154)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 142487782 (NC_000004.12:20992184:C:A 11/140184) Row 142487783 (NC_000004.12:20992184:C:T 27858/140144)	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 142487782 (NC_000004.12:20992184:C:A 11/140184) Row 142487783 (NC_000004.12:20992184:C:T 27858/140144)	-	Apr 26, 2021 (155)
67	Genome of the Netherlands Release 5	NC_000004.11 - 20993808	Apr 26, 2020 (154)
68	KOREAN population from KRGDB	NC_000004.11 - 20993808	Apr 26, 2020 (154)
69	Northern Sweden	NC_000004.11 - 20993808	Jul 13, 2019 (153)
70	Qatari	NC_000004.11 - 20993808	Apr 26, 2020 (154)
71	SGDP_PRJ	NC_000004.11 - 20993808	Apr 26, 2020 (154)
72	Siberian	NC_000004.11 - 20993808	Apr 26, 2020 (154)
73	8.3KJPN	NC_000004.11 - 20993808	Apr 26, 2021 (155)
74	14KJPN	NC_000004.12 - 20992185	Oct 17, 2022 (156)
75	TopMed	NC_000004.12 - 20992185	Apr 26, 2021 (155)
76	UK 10K study - Twins	NC_000004.11 - 20993808	Oct 12, 2018 (152)
77	A Vietnamese Genetic Variation Database	NC_000004.11 - 20993808	Jul 13, 2019 (153)
78	ALFA	NC_000004.12 - 20992185	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
14113790847	NC_000004.12:20992184:C:A	NC_000004.12:20992184:C:A	(self)
11722911, ss3904545517	NC_000004.11:20993807:C:G	NC_000004.12:20992184:C:G	(self)
ss80280461	NC_000004.9:20670076:C:T	NC_000004.12:20992184:C:T	(self)
ss112976318, ss116901712, ss166265579, ss252978938, ss277605380, ss1589340830	NC_000004.10:20602905:C:T	NC_000004.12:20992184:C:T	(self)
20105735, 11200165, 7917537, 6613861, 4929664, 11722911, 4212081, 5128539, 10406394, 2745508, 22522163, 11200165, 2449257, ss220785845, ss232291989, ss239605701, ss557361626, ss651128913, ss979850760, ss1071337213, ss1308747097, ss1429799713, ss1580448922, ss1609577249, ss1652571282, ss1801105364, ss1923086609, ss1969678188, ss2022119208, ss2150229154, ss2625560658, ss2705675348, ss2806514360, ss2994268302, ss3345583400, ss3662179289, ss3730927216, ss3761497573, ss3784641300, ss3790109105, ss3794984211, ss3828410741, ss3837639376, ss3858389414, ss3904545517, ss5164552856, ss5347408508, ss5634508843, ss5843660015, ss5962891464	NC_000004.11:20993807:C:T	NC_000004.12:20992184:C:T	(self)
26426187, 32135672, 442895874, 14113790847, ss2261050020, ss3024828798, ss3711564508, ss3804628917, ss3843073779, ss4605518318, ss5258320900, ss5457191971, ss5538900252, ss5698298568, ss5804828807, ss5854113360, ss5862461752	NC_000004.12:20992184:C:T	NC_000004.12:20992184:C:T	(self)
ss104046878, ss156951752	NT_006316.16:12175604:C:T	NC_000004.12:20992184: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 rs61494112

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs61494112