Name: rs36210417
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.

rs36210417

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:113358472 (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: T>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.009109 (2411/264690, TOPMED)
C=0.008722 (2184/250414, GnomAD_exome)
C=0.011866 (2270/191300, ALFA) (+ 16 more)
C=0.008216 (1152/140210, GnomAD)
C=0.008228 (996/121056, ExAC)
C=0.00623 (490/78700, PAGE_STUDY)
C=0.00684 (89/13006, GO-ESP)
C=0.0041 (26/6404, 1000G_30x)
C=0.0040 (20/5008, 1000G)
C=0.0154 (69/4480, Estonian)
C=0.0075 (29/3854, ALSPAC)
C=0.0081 (30/3708, TWINSUK)
C=0.005 (5/998, GoNL)
C=0.017 (9/534, MGP)
C=0.010 (3/304, FINRISK)
C=0.019 (4/216, Qatari)
C=0.03 (1/40, GENOME_DK)
T=0.5 (4/8, SGDP_PRJ)
C=0.5 (4/8, SGDP_PRJ)

Clinical Significance: Reported in ClinVar
Gene : Consequence: ANK2 : Missense 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: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	207764	T=0.988468	C=0.011532
European	Sub	172030	T=0.987398	C=0.012602
African	Sub	9796	T=0.9969	C=0.0031
African Others	Sub	360	T=0.997	C=0.003
African American	Sub	9436	T=0.9969	C=0.0031
Asian	Sub	6394	T=1.0000	C=0.0000
East Asian	Sub	4544	T=1.0000	C=0.0000
Other Asian	Sub	1850	T=1.0000	C=0.0000
Latin American 1	Sub	798	T=0.987	C=0.013
Latin American 2	Sub	952	T=0.989	C=0.011
South Asian	Sub	280	T=0.996	C=0.004
Other	Sub	17514	T=0.98989	C=0.01011

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	T=0.990891	C=0.009109
gnomAD - Exomes	Global	Study-wide	250414	T=0.991278	C=0.008722
gnomAD - Exomes	European	Sub	134462	T=0.989945	C=0.010055
gnomAD - Exomes	Asian	Sub	48982	T=0.99704	C=0.00296
gnomAD - Exomes	American	Sub	34568	T=0.99126	C=0.00874
gnomAD - Exomes	African	Sub	16240	T=0.99858	C=0.00142
gnomAD - Exomes	Ashkenazi Jewish	Sub	10046	T=0.97243	C=0.02757
gnomAD - Exomes	Other	Sub	6116	T=0.9861	C=0.0139
Allele Frequency Aggregator	Total	Global	191300	T=0.988134	C=0.011866
Allele Frequency Aggregator	European	Sub	161854	T=0.987272	C=0.012728
Allele Frequency Aggregator	Other	Sub	16064	T=0.98960	C=0.01040
Allele Frequency Aggregator	Asian	Sub	6394	T=1.0000	C=0.0000
Allele Frequency Aggregator	African	Sub	4958	T=0.9956	C=0.0044
Allele Frequency Aggregator	Latin American 2	Sub	952	T=0.989	C=0.011
Allele Frequency Aggregator	Latin American 1	Sub	798	T=0.987	C=0.013
Allele Frequency Aggregator	South Asian	Sub	280	T=0.996	C=0.004
gnomAD - Genomes	Global	Study-wide	140210	T=0.991784	C=0.008216
gnomAD - Genomes	European	Sub	75934	T=0.98999	C=0.01001
gnomAD - Genomes	African	Sub	42034	T=0.99841	C=0.00159
gnomAD - Genomes	American	Sub	13642	T=0.98387	C=0.01613
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	T=0.9762	C=0.0238
gnomAD - Genomes	East Asian	Sub	3130	T=1.0000	C=0.0000
gnomAD - Genomes	Other	Sub	2148	T=0.9879	C=0.0121
ExAC	Global	Study-wide	121056	T=0.991772	C=0.008228
ExAC	Europe	Sub	73160	T=0.98909	C=0.01091
ExAC	Asian	Sub	25114	T=0.99689	C=0.00311
ExAC	American	Sub	11544	T=0.99255	C=0.00745
ExAC	African	Sub	10332	T=0.99874	C=0.00126
ExAC	Other	Sub	906	T=0.977	C=0.023
The PAGE Study	Global	Study-wide	78700	T=0.99377	C=0.00623
The PAGE Study	AfricanAmerican	Sub	32516	T=0.99806	C=0.00194
The PAGE Study	Mexican	Sub	10808	T=0.99204	C=0.00796
The PAGE Study	Asian	Sub	8318	T=0.9999	C=0.0001
The PAGE Study	PuertoRican	Sub	7918	T=0.9770	C=0.0230
The PAGE Study	NativeHawaiian	Sub	4534	T=0.9963	C=0.0037
The PAGE Study	Cuban	Sub	4230	T=0.9830	C=0.0170
The PAGE Study	Dominican	Sub	3828	T=0.9901	C=0.0099
The PAGE Study	CentralAmerican	Sub	2450	T=0.9943	C=0.0057
The PAGE Study	SouthAmerican	Sub	1982	T=0.9960	C=0.0040
The PAGE Study	NativeAmerican	Sub	1260	T=0.9960	C=0.0040
The PAGE Study	SouthAsian	Sub	856	T=0.995	C=0.005
GO Exome Sequencing Project	Global	Study-wide	13006	T=0.99316	C=0.00684
GO Exome Sequencing Project	European American	Sub	8600	T=0.9910	C=0.0090
GO Exome Sequencing Project	African American	Sub	4406	T=0.9973	C=0.0027
1000Genomes_30x	Global	Study-wide	6404	T=0.9959	C=0.0041
1000Genomes_30x	African	Sub	1786	T=1.0000	C=0.0000
1000Genomes_30x	Europe	Sub	1266	T=0.9921	C=0.0079
1000Genomes_30x	South Asian	Sub	1202	T=0.9967	C=0.0033
1000Genomes_30x	East Asian	Sub	1170	T=1.0000	C=0.0000
1000Genomes_30x	American	Sub	980	T=0.988	C=0.012
1000Genomes	Global	Study-wide	5008	T=0.9960	C=0.0040
1000Genomes	African	Sub	1322	T=1.0000	C=0.0000
1000Genomes	East Asian	Sub	1008	T=1.0000	C=0.0000
1000Genomes	Europe	Sub	1006	T=0.9920	C=0.0080
1000Genomes	South Asian	Sub	978	T=0.997	C=0.003
1000Genomes	American	Sub	694	T=0.987	C=0.013
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.9846	C=0.0154
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.9925	C=0.0075
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.9919	C=0.0081
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.995	C=0.005
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	T=0.983	C=0.017
FINRISK	Finnish from FINRISK project	Study-wide	304	T=0.990	C=0.010
Qatari	Global	Study-wide	216	T=0.981	C=0.019
The Danish reference pan genome	Danish	Study-wide	40	T=0.97	C=0.03
SGDP_PRJ	Global	Study-wide	8	T=0.5	C=0.5

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.113358472T>C
GRCh37.p13 chr 4	NC_000004.11:g.114279628T>C
ANK2 RefSeqGene (LRG_327)	NG_009006.2:g.545390T>C

Gene: ANK2, ankyrin 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ANK2 transcript variant 3	NM_001127493.3:c.4400-235… NM_001127493.3:c.4400-2351T>C	N/A	Intron Variant
ANK2 transcript variant 4	NM_001354225.2:c.4439-235… NM_001354225.2:c.4439-2351T>C	N/A	Intron Variant
ANK2 transcript variant 5	NM_001354228.2:c.4328-235… NM_001354228.2:c.4328-2351T>C	N/A	Intron Variant
ANK2 transcript variant 6	NM_001354230.2:c.4406-235… NM_001354230.2:c.4406-2351T>C	N/A	Intron Variant
ANK2 transcript variant 7	NM_001354231.2:c.4469-235… NM_001354231.2:c.4469-2351T>C	N/A	Intron Variant
ANK2 transcript variant 8	NM_001354232.2:c.4463-235… NM_001354232.2:c.4463-2351T>C	N/A	Intron Variant
ANK2 transcript variant 9	NM_001354235.2:c.4424-235… NM_001354235.2:c.4424-2351T>C	N/A	Intron Variant
ANK2 transcript variant 10	NM_001354236.2:c.4325-235… NM_001354236.2:c.4325-2351T>C	N/A	Intron Variant
ANK2 transcript variant 11	NM_001354237.2:c.4505-235… NM_001354237.2:c.4505-2351T>C	N/A	Intron Variant
ANK2 transcript variant 12	NM_001354239.2:c.4397-235… NM_001354239.2:c.4397-2351T>C	N/A	Intron Variant
ANK2 transcript variant 13	NM_001354240.2:c.4472-235… NM_001354240.2:c.4472-2351T>C	N/A	Intron Variant
ANK2 transcript variant 14	NM_001354241.2:c.4472-235… NM_001354241.2:c.4472-2351T>C	N/A	Intron Variant
ANK2 transcript variant 15	NM_001354242.2:c.4469-235… NM_001354242.2:c.4469-2351T>C	N/A	Intron Variant
ANK2 transcript variant 16	NM_001354243.2:c.4364-235… NM_001354243.2:c.4364-2351T>C	N/A	Intron Variant
ANK2 transcript variant 17	NM_001354244.2:c.4361-235… NM_001354244.2:c.4361-2351T>C	N/A	Intron Variant
ANK2 transcript variant 18	NM_001354245.2:c.4265-235… NM_001354245.2:c.4265-2351T>C	N/A	Intron Variant
ANK2 transcript variant 19	NM_001354246.2:c.4424-235… NM_001354246.2:c.4424-2351T>C	N/A	Intron Variant
ANK2 transcript variant 20	NM_001354249.2:c.4241-235… NM_001354249.2:c.4241-2351T>C	N/A	Intron Variant
ANK2 transcript variant 21	NM_001354252.2:c.4397-235… NM_001354252.2:c.4397-2351T>C	N/A	Intron Variant
ANK2 transcript variant 22	NM_001354253.2:c.4202-235… NM_001354253.2:c.4202-2351T>C	N/A	Intron Variant
ANK2 transcript variant 23	NM_001354254.2:c.4376-235… NM_001354254.2:c.4376-2351T>C	N/A	Intron Variant
ANK2 transcript variant 24	NM_001354255.2:c.4364-235… NM_001354255.2:c.4364-2351T>C	N/A	Intron Variant
ANK2 transcript variant 25	NM_001354256.2:c.4361-235… NM_001354256.2:c.4361-2351T>C	N/A	Intron Variant
ANK2 transcript variant 26	NM_001354257.2:c.4166-235… NM_001354257.2:c.4166-2351T>C	N/A	Intron Variant
ANK2 transcript variant 27	NM_001354258.2:c.4328-235… NM_001354258.2:c.4328-2351T>C	N/A	Intron Variant
ANK2 transcript variant 28	NM_001354260.2:c.4142-235… NM_001354260.2:c.4142-2351T>C	N/A	Intron Variant
ANK2 transcript variant 29	NM_001354261.2:c.4286-235… NM_001354261.2:c.4286-2351T>C	N/A	Intron Variant
ANK2 transcript variant 30	NM_001354262.2:c.4265-235… NM_001354262.2:c.4265-2351T>C	N/A	Intron Variant
ANK2 transcript variant 31	NM_001354264.2:c.4262-235… NM_001354264.2:c.4262-2351T>C	N/A	Intron Variant
ANK2 transcript variant 32	NM_001354265.2:c.4424-235… NM_001354265.2:c.4424-2351T>C	N/A	Intron Variant
ANK2 transcript variant 33	NM_001354266.2:c.4241-235… NM_001354266.2:c.4241-2351T>C	N/A	Intron Variant
ANK2 transcript variant 34	NM_001354267.2:c.4241-235… NM_001354267.2:c.4241-2351T>C	N/A	Intron Variant
ANK2 transcript variant 35	NM_001354268.2:c.4229-235… NM_001354268.2:c.4229-2351T>C	N/A	Intron Variant
ANK2 transcript variant 36	NM_001354269.3:c.4214-235… NM_001354269.3:c.4214-2351T>C	N/A	Intron Variant
ANK2 transcript variant 37	NM_001354270.2:c.4202-235… NM_001354270.2:c.4202-2351T>C	N/A	Intron Variant
ANK2 transcript variant 38	NM_001354271.2:c.4142-235… NM_001354271.2:c.4142-2351T>C	N/A	Intron Variant
ANK2 transcript variant 39	NM_001354272.2:c.4298-235… NM_001354272.2:c.4298-2351T>C	N/A	Intron Variant
ANK2 transcript variant 40	NM_001354273.2:c.4127-235… NM_001354273.2:c.4127-2351T>C	N/A	Intron Variant
ANK2 transcript variant 41	NM_001354274.2:c.4193-235… NM_001354274.2:c.4193-2351T>C	N/A	Intron Variant
ANK2 transcript variant 42	NM_001354275.2:c.4265-235… NM_001354275.2:c.4265-2351T>C	N/A	Intron Variant
ANK2 transcript variant 43	NM_001354276.2:c.4241-235… NM_001354276.2:c.4241-2351T>C	N/A	Intron Variant
ANK2 transcript variant 44	NM_001354277.2:c.4043-235… NM_001354277.2:c.4043-2351T>C	N/A	Intron Variant
ANK2 transcript variant 45	NM_001354278.2:c.1955-235… NM_001354278.2:c.1955-2351T>C	N/A	Intron Variant
ANK2 transcript variant 46	NM_001354279.2:c.1991-235… NM_001354279.2:c.1991-2351T>C	N/A	Intron Variant
ANK2 transcript variant 47	NM_001354280.2:c.1976-235… NM_001354280.2:c.1976-2351T>C	N/A	Intron Variant
ANK2 transcript variant 48	NM_001354281.2:c.1955-235… NM_001354281.2:c.1955-2351T>C	N/A	Intron Variant
ANK2 transcript variant 49	NM_001354282.2:c.1991-235… NM_001354282.2:c.1991-2351T>C	N/A	Intron Variant
ANK2 transcript variant 51	NM_001386143.1:c.4364-235… NM_001386143.1:c.4364-2351T>C	N/A	Intron Variant
ANK2 transcript variant 52	NM_001386144.1:c.4472-235… NM_001386144.1:c.4472-2351T>C	N/A	Intron Variant
ANK2 transcript variant 53	NM_001386146.1:c.4208-235… NM_001386146.1:c.4208-2351T>C	N/A	Intron Variant
ANK2 transcript variant 54	NM_001386147.1:c.4253-235… NM_001386147.1:c.4253-2351T>C	N/A	Intron Variant
ANK2 transcript variant 55	NM_001386148.2:c.4412-235… NM_001386148.2:c.4412-2351T>C	N/A	Intron Variant
ANK2 transcript variant 56	NM_001386149.1:c.4208-235… NM_001386149.1:c.4208-2351T>C	N/A	Intron Variant
ANK2 transcript variant 57	NM_001386150.1:c.4208-235… NM_001386150.1:c.4208-2351T>C	N/A	Intron Variant
ANK2 transcript variant 58	NM_001386151.1:c.4142-235… NM_001386151.1:c.4142-2351T>C	N/A	Intron Variant
ANK2 transcript variant 59	NM_001386152.1:c.4484-235… NM_001386152.1:c.4484-2351T>C	N/A	Intron Variant
ANK2 transcript variant 60	NM_001386153.1:c.4208-235… NM_001386153.1:c.4208-2351T>C	N/A	Intron Variant
ANK2 transcript variant 61	NM_001386154.1:c.4193-235… NM_001386154.1:c.4193-2351T>C	N/A	Intron Variant
ANK2 transcript variant 62	NM_001386156.1:c.4166-235… NM_001386156.1:c.4166-2351T>C	N/A	Intron Variant
ANK2 transcript variant 63	NM_001386157.1:c.4043-235… NM_001386157.1:c.4043-2351T>C	N/A	Intron Variant
ANK2 transcript variant 64	NM_001386158.1:c.3944-235… NM_001386158.1:c.3944-2351T>C	N/A	Intron Variant
ANK2 transcript variant 67	NM_001386160.1:c.4271-235… NM_001386160.1:c.4271-2351T>C	N/A	Intron Variant
ANK2 transcript variant 68	NM_001386161.1:c.4361-235… NM_001386161.1:c.4361-2351T>C	N/A	Intron Variant
ANK2 transcript variant 69	NM_001386162.1:c.4241-235… NM_001386162.1:c.4241-2351T>C	N/A	Intron Variant
ANK2 transcript variant 66	NM_001386167.1:c.827-2351… NM_001386167.1:c.827-2351T>C	N/A	Intron Variant
ANK2 transcript variant 72	NM_001386186.2:c.4412-235… NM_001386186.2:c.4412-2351T>C	N/A	Intron Variant
ANK2 transcript variant 73	NM_001386187.2:c.4292-235… NM_001386187.2:c.4292-2351T>C	N/A	Intron Variant
ANK2 transcript variant 2	NM_020977.5:c.4427-2351T>C	N/A	Intron Variant
ANK2 transcript variant 1	NM_001148.6:c.9854T>C	I [ATC] > T [ACC]	Coding Sequence Variant
ankyrin-2 isoform 1	NP_001139.3:p.Ile3285Thr	I (Ile) > T (Thr)	Missense Variant
ANK2 transcript variant 65	NM_001386166.1:c.6254T>C	I [ATC] > T [ACC]	Coding Sequence Variant
ankyrin-2 isoform 65	NP_001373095.1:p.Ile2085T… NP_001373095.1:p.Ile2085Thr	I (Ile) > T (Thr)	Missense Variant
ANK2 transcript variant 50	NM_001386142.1:c.9620T>C	I [ATC] > T [ACC]	Coding Sequence Variant
ankyrin-2 isoform 50	NP_001373071.1:p.Ile3207T… NP_001373071.1:p.Ile3207Thr	I (Ile) > T (Thr)	Missense Variant
ANK2 transcript variant 71	NM_001386175.1:c.9971T>C	I [ATC] > T [ACC]	Coding Sequence Variant
ankyrin-2 isoform 68	NP_001373104.1:p.Ile3324T… NP_001373104.1:p.Ile3324Thr	I (Ile) > T (Thr)	Missense Variant
ANK2 transcript variant 70	NM_001386174.1:c.9995T>C	I [ATC] > T [ACC]	Coding Sequence Variant
ankyrin-2 isoform 67	NP_001373103.1:p.Ile3332T… NP_001373103.1:p.Ile3332Thr	I (Ile) > T (Thr)	Missense 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.

Allele: C (allele ID: 188392 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000171794.9	not specified	Benign
RCV000206487.12	Long QT syndrome	Benign
RCV000250415.2	Cardiovascular phenotype	Benign
RCV000589694.7	not provided	Benign-Likely-Benign
RCV000625128.6	Cardiac arrhythmia, ankyrin-B-related	Benign-Likely-Benign
RCV000852978.2	Atrial fibrillation,Cardiomyopathy	Benign

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	T=	C
GRCh38.p14 chr 4	NC_000004.12:g.113358472=	NC_000004.12:g.113358472T>C
GRCh37.p13 chr 4	NC_000004.11:g.114279628=	NC_000004.11:g.114279628T>C
ANK2 RefSeqGene (LRG_327)	NG_009006.2:g.545390=	NG_009006.2:g.545390T>C
ANK2 transcript variant 1	NM_001148.6:c.9854=	NM_001148.6:c.9854T>C
ANK2 transcript variant 1	NM_001148.5:c.9854=	NM_001148.5:c.9854T>C
ANK2 transcript variant 1	NM_001148.4:c.9854=	NM_001148.4:c.9854T>C
ANK2 transcript variant 70	NM_001386174.1:c.9995=	NM_001386174.1:c.9995T>C
ANK2 transcript variant 71	NM_001386175.1:c.9971=	NM_001386175.1:c.9971T>C
ANK2 transcript variant 50	NM_001386142.1:c.9620=	NM_001386142.1:c.9620T>C
ANK2 transcript variant 65	NM_001386166.1:c.6254=	NM_001386166.1:c.6254T>C
ANK2 transcript variant 72	NM_001386173.1:c.9893=	NM_001386173.1:c.9893T>C
ankyrin-2 isoform 1	NP_001139.3:p.Ile3285=	NP_001139.3:p.Ile3285Thr
ankyrin-2 isoform 67	NP_001373103.1:p.Ile3332=	NP_001373103.1:p.Ile3332Thr
ankyrin-2 isoform 68	NP_001373104.1:p.Ile3324=	NP_001373104.1:p.Ile3324Thr
ankyrin-2 isoform 50	NP_001373071.1:p.Ile3207=	NP_001373071.1:p.Ile3207Thr
ankyrin-2 isoform 65	NP_001373095.1:p.Ile2085=	NP_001373095.1:p.Ile2085Thr
ANK2 transcript variant 3	NM_001127493.1:c.4400-2351=	NM_001127493.1:c.4400-2351T>C
ANK2 transcript variant 3	NM_001127493.3:c.4400-2351=	NM_001127493.3:c.4400-2351T>C
ANK2 transcript variant 4	NM_001354225.2:c.4439-2351=	NM_001354225.2:c.4439-2351T>C
ANK2 transcript variant 5	NM_001354228.2:c.4328-2351=	NM_001354228.2:c.4328-2351T>C
ANK2 transcript variant 6	NM_001354230.2:c.4406-2351=	NM_001354230.2:c.4406-2351T>C
ANK2 transcript variant 7	NM_001354231.2:c.4469-2351=	NM_001354231.2:c.4469-2351T>C
ANK2 transcript variant 8	NM_001354232.2:c.4463-2351=	NM_001354232.2:c.4463-2351T>C
ANK2 transcript variant 9	NM_001354235.2:c.4424-2351=	NM_001354235.2:c.4424-2351T>C
ANK2 transcript variant 10	NM_001354236.2:c.4325-2351=	NM_001354236.2:c.4325-2351T>C
ANK2 transcript variant 11	NM_001354237.2:c.4505-2351=	NM_001354237.2:c.4505-2351T>C
ANK2 transcript variant 12	NM_001354239.2:c.4397-2351=	NM_001354239.2:c.4397-2351T>C
ANK2 transcript variant 13	NM_001354240.2:c.4472-2351=	NM_001354240.2:c.4472-2351T>C
ANK2 transcript variant 14	NM_001354241.2:c.4472-2351=	NM_001354241.2:c.4472-2351T>C
ANK2 transcript variant 15	NM_001354242.2:c.4469-2351=	NM_001354242.2:c.4469-2351T>C
ANK2 transcript variant 16	NM_001354243.2:c.4364-2351=	NM_001354243.2:c.4364-2351T>C
ANK2 transcript variant 17	NM_001354244.2:c.4361-2351=	NM_001354244.2:c.4361-2351T>C
ANK2 transcript variant 18	NM_001354245.2:c.4265-2351=	NM_001354245.2:c.4265-2351T>C
ANK2 transcript variant 19	NM_001354246.2:c.4424-2351=	NM_001354246.2:c.4424-2351T>C
ANK2 transcript variant 20	NM_001354249.2:c.4241-2351=	NM_001354249.2:c.4241-2351T>C
ANK2 transcript variant 21	NM_001354252.2:c.4397-2351=	NM_001354252.2:c.4397-2351T>C
ANK2 transcript variant 22	NM_001354253.2:c.4202-2351=	NM_001354253.2:c.4202-2351T>C
ANK2 transcript variant 23	NM_001354254.2:c.4376-2351=	NM_001354254.2:c.4376-2351T>C
ANK2 transcript variant 24	NM_001354255.2:c.4364-2351=	NM_001354255.2:c.4364-2351T>C
ANK2 transcript variant 25	NM_001354256.2:c.4361-2351=	NM_001354256.2:c.4361-2351T>C
ANK2 transcript variant 26	NM_001354257.2:c.4166-2351=	NM_001354257.2:c.4166-2351T>C
ANK2 transcript variant 27	NM_001354258.2:c.4328-2351=	NM_001354258.2:c.4328-2351T>C
ANK2 transcript variant 28	NM_001354260.2:c.4142-2351=	NM_001354260.2:c.4142-2351T>C
ANK2 transcript variant 29	NM_001354261.2:c.4286-2351=	NM_001354261.2:c.4286-2351T>C
ANK2 transcript variant 30	NM_001354262.2:c.4265-2351=	NM_001354262.2:c.4265-2351T>C
ANK2 transcript variant 31	NM_001354264.2:c.4262-2351=	NM_001354264.2:c.4262-2351T>C
ANK2 transcript variant 32	NM_001354265.2:c.4424-2351=	NM_001354265.2:c.4424-2351T>C
ANK2 transcript variant 33	NM_001354266.2:c.4241-2351=	NM_001354266.2:c.4241-2351T>C
ANK2 transcript variant 34	NM_001354267.2:c.4241-2351=	NM_001354267.2:c.4241-2351T>C
ANK2 transcript variant 35	NM_001354268.2:c.4229-2351=	NM_001354268.2:c.4229-2351T>C
ANK2 transcript variant 36	NM_001354269.3:c.4214-2351=	NM_001354269.3:c.4214-2351T>C
ANK2 transcript variant 37	NM_001354270.2:c.4202-2351=	NM_001354270.2:c.4202-2351T>C
ANK2 transcript variant 38	NM_001354271.2:c.4142-2351=	NM_001354271.2:c.4142-2351T>C
ANK2 transcript variant 39	NM_001354272.2:c.4298-2351=	NM_001354272.2:c.4298-2351T>C
ANK2 transcript variant 40	NM_001354273.2:c.4127-2351=	NM_001354273.2:c.4127-2351T>C
ANK2 transcript variant 41	NM_001354274.2:c.4193-2351=	NM_001354274.2:c.4193-2351T>C
ANK2 transcript variant 42	NM_001354275.2:c.4265-2351=	NM_001354275.2:c.4265-2351T>C
ANK2 transcript variant 43	NM_001354276.2:c.4241-2351=	NM_001354276.2:c.4241-2351T>C
ANK2 transcript variant 44	NM_001354277.2:c.4043-2351=	NM_001354277.2:c.4043-2351T>C
ANK2 transcript variant 45	NM_001354278.2:c.1955-2351=	NM_001354278.2:c.1955-2351T>C
ANK2 transcript variant 46	NM_001354279.2:c.1991-2351=	NM_001354279.2:c.1991-2351T>C
ANK2 transcript variant 47	NM_001354280.2:c.1976-2351=	NM_001354280.2:c.1976-2351T>C
ANK2 transcript variant 48	NM_001354281.2:c.1955-2351=	NM_001354281.2:c.1955-2351T>C
ANK2 transcript variant 49	NM_001354282.2:c.1991-2351=	NM_001354282.2:c.1991-2351T>C
ANK2 transcript variant 51	NM_001386143.1:c.4364-2351=	NM_001386143.1:c.4364-2351T>C
ANK2 transcript variant 52	NM_001386144.1:c.4472-2351=	NM_001386144.1:c.4472-2351T>C
ANK2 transcript variant 53	NM_001386146.1:c.4208-2351=	NM_001386146.1:c.4208-2351T>C
ANK2 transcript variant 54	NM_001386147.1:c.4253-2351=	NM_001386147.1:c.4253-2351T>C
ANK2 transcript variant 55	NM_001386148.2:c.4412-2351=	NM_001386148.2:c.4412-2351T>C
ANK2 transcript variant 56	NM_001386149.1:c.4208-2351=	NM_001386149.1:c.4208-2351T>C
ANK2 transcript variant 57	NM_001386150.1:c.4208-2351=	NM_001386150.1:c.4208-2351T>C
ANK2 transcript variant 58	NM_001386151.1:c.4142-2351=	NM_001386151.1:c.4142-2351T>C
ANK2 transcript variant 59	NM_001386152.1:c.4484-2351=	NM_001386152.1:c.4484-2351T>C
ANK2 transcript variant 60	NM_001386153.1:c.4208-2351=	NM_001386153.1:c.4208-2351T>C
ANK2 transcript variant 61	NM_001386154.1:c.4193-2351=	NM_001386154.1:c.4193-2351T>C
ANK2 transcript variant 62	NM_001386156.1:c.4166-2351=	NM_001386156.1:c.4166-2351T>C
ANK2 transcript variant 63	NM_001386157.1:c.4043-2351=	NM_001386157.1:c.4043-2351T>C
ANK2 transcript variant 64	NM_001386158.1:c.3944-2351=	NM_001386158.1:c.3944-2351T>C
ANK2 transcript variant 67	NM_001386160.1:c.4271-2351=	NM_001386160.1:c.4271-2351T>C
ANK2 transcript variant 68	NM_001386161.1:c.4361-2351=	NM_001386161.1:c.4361-2351T>C
ANK2 transcript variant 69	NM_001386162.1:c.4241-2351=	NM_001386162.1:c.4241-2351T>C
ANK2 transcript variant 66	NM_001386167.1:c.827-2351=	NM_001386167.1:c.827-2351T>C
ANK2 transcript variant 72	NM_001386186.2:c.4412-2351=	NM_001386186.2:c.4412-2351T>C
ANK2 transcript variant 73	NM_001386187.2:c.4292-2351=	NM_001386187.2:c.4292-2351T>C
ANK2 transcript variant 2	NM_020977.3:c.4427-2351=	NM_020977.3:c.4427-2351T>C
ANK2 transcript variant 2	NM_020977.5:c.4427-2351=	NM_020977.5:c.4427-2351T>C
ANK2 transcript variant X6	XM_005262946.1:c.4427-2351=	XM_005262946.1:c.4427-2351T>C
ANK2 transcript variant X7	XM_005262947.1:c.4460-2351=	XM_005262947.1:c.4460-2351T>C
ANK2 transcript variant X8	XM_005262948.1:c.4424-2351=	XM_005262948.1:c.4424-2351T>C
ANK2 transcript variant X9	XM_005262949.1:c.4391-2351=	XM_005262949.1:c.4391-2351T>C
ANK2 transcript variant X10	XM_005262950.1:c.4460-2351=	XM_005262950.1:c.4460-2351T>C

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#.

70 SubSNP, 18 Frequency, 6 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	PFIZERPG	ss51855901	Mar 16, 2006 (126)
2	SI_EXO	ss76899498	Dec 06, 2007 (129)
3	ILLUMINA	ss244267329	Jul 04, 2010 (132)
4	1000GENOMES	ss331889261	May 09, 2011 (134)
5	NHLBI-ESP	ss342170100	May 09, 2011 (134)
6	1000GENOMES	ss490893446	May 04, 2012 (137)
7	EXOME_CHIP	ss491359860	May 04, 2012 (137)
8	CLINSEQ_SNP	ss491858910	May 04, 2012 (137)
9	ILLUMINA	ss534393859	Sep 08, 2015 (146)
10	ILLUMINA	ss780831886	Sep 08, 2015 (146)
11	ILLUMINA	ss783514857	Sep 08, 2015 (146)
12	EVA-GONL	ss980553031	Aug 21, 2014 (142)
13	JMKIDD_LAB	ss1067463779	Aug 21, 2014 (142)
14	JMKIDD_LAB	ss1071861625	Aug 21, 2014 (142)
15	1000GENOMES	ss1311358630	Aug 21, 2014 (142)
16	EVA_GENOME_DK	ss1580725731	Apr 01, 2015 (144)
17	EVA_FINRISK	ss1584035925	Apr 01, 2015 (144)
18	EVA_DECODE	ss1590058467	Apr 01, 2015 (144)
19	EVA_UK10K_ALSPAC	ss1610939622	Apr 01, 2015 (144)
20	EVA_UK10K_TWINSUK	ss1653933655	Apr 01, 2015 (144)
21	EVA_EXAC	ss1687613407	Apr 01, 2015 (144)
22	EVA_MGP	ss1711069651	Apr 01, 2015 (144)
23	ILLUMINA	ss1752493372	Sep 08, 2015 (146)
24	ILLUMINA	ss1917783979	Feb 12, 2016 (147)
25	WEILL_CORNELL_DGM	ss1923791111	Feb 12, 2016 (147)
26	ILLUMINA	ss1946125229	Feb 12, 2016 (147)
27	ILLUMINA	ss1958713802	Feb 12, 2016 (147)
28	JJLAB	ss2022480012	Sep 14, 2016 (149)
29	HUMAN_LONGEVITY	ss2266217055	Dec 20, 2016 (150)
30	ILLUMINA	ss2711014082	Nov 08, 2017 (151)
31	GNOMAD	ss2734696724	Nov 08, 2017 (151)
32	GNOMAD	ss2747292410	Nov 08, 2017 (151)
33	GNOMAD	ss2813953044	Nov 08, 2017 (151)
34	AFFY	ss2985301436	Nov 08, 2017 (151)
35	SWEGEN	ss2995366122	Nov 08, 2017 (151)
36	ILLUMINA	ss3022406747	Nov 08, 2017 (151)
37	ILLUMINA	ss3022406748	Nov 08, 2017 (151)
38	ILLUMINA	ss3629044637	Oct 12, 2018 (152)
39	ILLUMINA	ss3629044638	Oct 12, 2018 (152)
40	OMUKHERJEE_ADBS	ss3646311670	Oct 12, 2018 (152)
41	ILLUMINA	ss3652894374	Oct 12, 2018 (152)
42	ILLUMINA	ss3652894375	Oct 12, 2018 (152)
43	ILLUMINA	ss3654073136	Oct 12, 2018 (152)
44	EGCUT_WGS	ss3663267342	Jul 13, 2019 (153)
45	EVA_DECODE	ss3712841866	Jul 13, 2019 (153)
46	ILLUMINA	ss3726163180	Jul 13, 2019 (153)
47	ILLUMINA	ss3744528995	Jul 13, 2019 (153)
48	PAGE_CC	ss3771148206	Jul 13, 2019 (153)
49	ILLUMINA	ss3772761839	Jul 13, 2019 (153)
50	KHV_HUMAN_GENOMES	ss3805425604	Jul 13, 2019 (153)
51	EVA	ss3824041293	Apr 26, 2020 (154)
52	EVA	ss3825663163	Apr 26, 2020 (154)
53	EVA	ss3828749048	Apr 26, 2020 (154)
54	SGDP_PRJ	ss3859810975	Apr 26, 2020 (154)
55	FSA-LAB	ss3984292137	Apr 27, 2021 (155)
56	FSA-LAB	ss3984292138	Apr 27, 2021 (155)
57	EVA	ss3986289903	Apr 27, 2021 (155)
58	TOPMED	ss4628021349	Apr 27, 2021 (155)
59	EVA	ss5237642714	Oct 17, 2022 (156)
60	1000G_HIGH_COVERAGE	ss5260619329	Oct 17, 2022 (156)
61	EVA	ss5351577408	Oct 17, 2022 (156)
62	HUGCELL_USP	ss5459224420	Oct 17, 2022 (156)
63	1000G_HIGH_COVERAGE	ss5542461829	Oct 17, 2022 (156)
64	EVA	ss5844552379	Oct 17, 2022 (156)
65	EVA	ss5847249350	Oct 17, 2022 (156)
66	EVA	ss5848022246	Oct 17, 2022 (156)
67	EVA	ss5848615454	Oct 17, 2022 (156)
68	EVA	ss5865054820	Oct 17, 2022 (156)
69	EVA	ss5964254694	Oct 17, 2022 (156)
70	EVA	ss5979711629	Oct 17, 2022 (156)
71	1000Genomes	NC_000004.11 - 114279628	Oct 12, 2018 (152)
72	1000Genomes_30x	NC_000004.12 - 113358472	Oct 17, 2022 (156)
73	The Avon Longitudinal Study of Parents and Children	NC_000004.11 - 114279628	Oct 12, 2018 (152)
74	Genetic variation in the Estonian population	NC_000004.11 - 114279628	Oct 12, 2018 (152)
75	ExAC	NC_000004.11 - 114279628	Oct 12, 2018 (152)
76	FINRISK	NC_000004.11 - 114279628	Apr 26, 2020 (154)
77	The Danish reference pan genome	NC_000004.11 - 114279628	Apr 26, 2020 (154)
78	gnomAD - Genomes	NC_000004.12 - 113358472	Apr 27, 2021 (155)
79	gnomAD - Exomes	NC_000004.11 - 114279628	Jul 13, 2019 (153)
80	GO Exome Sequencing Project	NC_000004.11 - 114279628	Oct 12, 2018 (152)
81	Genome of the Netherlands Release 5	NC_000004.11 - 114279628	Apr 26, 2020 (154)
82	Medical Genome Project healthy controls from Spanish population	NC_000004.11 - 114279628	Apr 26, 2020 (154)
83	The PAGE Study	NC_000004.12 - 113358472	Jul 13, 2019 (153)
84	Qatari	NC_000004.11 - 114279628	Apr 26, 2020 (154)
85	SGDP_PRJ	NC_000004.11 - 114279628	Apr 26, 2020 (154)
86	TopMed	NC_000004.12 - 113358472	Apr 27, 2021 (155)
87	UK 10K study - Twins	NC_000004.11 - 114279628	Oct 12, 2018 (152)
88	ALFA	NC_000004.12 - 113358472	Apr 27, 2021 (155)
89	ClinVar	RCV000171794.9	Oct 17, 2022 (156)
90	ClinVar	RCV000206487.12	Oct 17, 2022 (156)
91	ClinVar	RCV000250415.2	Oct 17, 2022 (156)
92	ClinVar	RCV000589694.7	Oct 17, 2022 (156)
93	ClinVar	RCV000625128.6	Oct 17, 2022 (156)
94	ClinVar	RCV000852978.2	Oct 17, 2022 (156)

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
ss491858910, ss1590058467	NC_000004.10:114499076:T:C	NC_000004.12:113358471:T:C	(self)
22815391, 12695430, 9005590, 7588248, 32386, 6890670, 3806124, 499485, 5614056, 185411, 5833041, 11827955, 12695430, ss331889261, ss342170100, ss490893446, ss491359860, ss534393859, ss780831886, ss783514857, ss980553031, ss1067463779, ss1071861625, ss1311358630, ss1580725731, ss1584035925, ss1610939622, ss1653933655, ss1687613407, ss1711069651, ss1752493372, ss1917783979, ss1923791111, ss1946125229, ss1958713802, ss2022480012, ss2711014082, ss2734696724, ss2747292410, ss2813953044, ss2985301436, ss2995366122, ss3022406747, ss3022406748, ss3629044637, ss3629044638, ss3646311670, ss3652894374, ss3652894375, ss3654073136, ss3663267342, ss3744528995, ss3772761839, ss3824041293, ss3825663163, ss3828749048, ss3859810975, ss3984292137, ss3984292138, ss3986289903, ss5351577408, ss5844552379, ss5847249350, ss5848022246, ss5848615454, ss5964254694, ss5979711629	NC_000004.11:114279627:T:C	NC_000004.12:113358471:T:C	(self)
RCV000171794.9, RCV000206487.12, RCV000250415.2, RCV000589694.7, RCV000625128.6, RCV000852978.2, 29987764, 161646714, 369675, 465398905, 8351544635, ss2266217055, ss3712841866, ss3726163180, ss3771148206, ss3805425604, ss4628021349, ss5237642714, ss5260619329, ss5459224420, ss5542461829, ss5865054820	NC_000004.12:113358471:T:C	NC_000004.12:113358471:T:C	(self)
ss76899498	NT_016354.18:38827773:T:C	NC_000004.12:113358471:T:C	(self)
ss51855901, ss244267329	NT_016354.19:38827348:T:C	NC_000004.12:113358471:T:C	(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 rs36210417

PMID	Title	Author	Year	Journal
23861362	Interpreting secondary cardiac disease variants in an exome cohort.	Ng D et al.	2013	Circulation. Cardiovascular 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
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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.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs36210417