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dbSNP Short Genetic Variations

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.

rs4074536

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr1:115768346 (GRCh38.p12) 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=0.32893 (82656/251288, GnomAD_exome)
C=0.36401 (45708/125568, TOPMED)
C=0.32650 (39634/121390, ExAC) (+ 9 more)
C=0.4129 (32494/78696, PAGE_STUDY)
C=0.3285 (10286/31316, GnomAD)
C=0.3394 (4414/13006, GO-ESP)
C=0.401 (2009/5008, 1000G)
C=0.200 (894/4480, Estonian)
C=0.298 (1149/3854, ALSPAC)
C=0.290 (1077/3708, TWINSUK)
T=0.49 (300/614, Vietnamese)
C=0.25 (150/600, NorthernSweden)
Clinical Significance
Reported in ClinVar
Gene : Consequence
CASQ2 : Missense Variant
Publications
9 citations
Genomic View
See rs on genome
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.p12 chr 1 NC_000001.11:g.115768346T>C
GRCh37.p13 chr 1 NC_000001.10:g.116310967T>C
CASQ2 RefSeqGene (LRG_404) NG_008802.1:g.5460A>G
Gene: CASQ2, calsequestrin 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CASQ2 transcript NM_001232.3:c.196A>G T [ACG] > A [GCG] Coding Sequence Variant
calsequestrin-2 precursor NP_001223.2:p.Thr66Ala T (Thr) > A (Ala) Missense 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.

Allele: C (allele ID: 53328 )
ClinVar Accession Disease Names Clinical Significance
RCV000037136.4 not specified Benign
RCV000247814.1 Cardiovascular phenotype Benign
RCV000389613.1 Catecholaminergic polymorphic ventricular tachycardia Benign
RCV000604412.1 Ventricular tachycardia, catecholaminergic polymorphic, 2 Benign
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
gnomAD - Exomes Global Study-wide 251288 T=0.67107 C=0.32893
gnomAD - Exomes European Sub 135222 T=0.71270 C=0.28730
gnomAD - Exomes Asian Sub 49010 T=0.6051 C=0.3949
gnomAD - Exomes American Sub 34590 T=0.6404 C=0.3596
gnomAD - Exomes African Sub 16256 T=0.5458 C=0.4542
gnomAD - Exomes Ashkenazi Jewish Sub 10078 T=0.7393 C=0.2607
gnomAD - Exomes Other Sub 6132 T=0.674 C=0.326
TopMed Global Study-wide 125568 T=0.63599 C=0.36401
ExAC Global Study-wide 121390 T=0.67350 C=0.32650
ExAC Europe Sub 73352 T=0.7172 C=0.2828
ExAC Asian Sub 25148 T=0.6148 C=0.3852
ExAC American Sub 11576 T=0.6365 C=0.3635
ExAC African Sub 10406 T=0.5462 C=0.4538
ExAC Other Sub 908 T=0.70 C=0.30
The PAGE Study Global Study-wide 78696 T=0.5871 C=0.4129
The PAGE Study AfricanAmerican Sub 32514 T=0.5579 C=0.4421
The PAGE Study Mexican Sub 10810 T=0.6433 C=0.3567
The PAGE Study Asian Sub 8318 T=0.512 C=0.488
The PAGE Study PuertoRican Sub 7918 T=0.632 C=0.368
The PAGE Study NativeHawaiian Sub 4534 T=0.556 C=0.444
The PAGE Study Cuban Sub 4230 T=0.657 C=0.343
The PAGE Study Dominican Sub 3826 T=0.613 C=0.387
The PAGE Study CentralAmerican Sub 2450 T=0.622 C=0.378
The PAGE Study SouthAmerican Sub 1982 T=0.640 C=0.360
The PAGE Study NativeAmerican Sub 1260 T=0.621 C=0.379
The PAGE Study SouthAsian Sub 854 T=0.74 C=0.26
gnomAD - Genomes Global Study-wide 31316 T=0.6715 C=0.3285
gnomAD - Genomes European Sub 18876 T=0.7400 C=0.2600
gnomAD - Genomes African Sub 8674 T=0.556 C=0.444
gnomAD - Genomes East Asian Sub 1544 T=0.454 C=0.546
gnomAD - Genomes Other Sub 1088 T=0.714 C=0.286
gnomAD - Genomes American Sub 844 T=0.64 C=0.36
gnomAD - Genomes Ashkenazi Jewish Sub 290 T=0.75 C=0.25
GO Exome Sequencing Project Global Study-wide 13006 T=0.6606 C=0.3394
GO Exome Sequencing Project European American Sub 8600 T=0.711 C=0.289
GO Exome Sequencing Project African American Sub 4406 T=0.562 C=0.438
1000Genomes Global Study-wide 5008 T=0.599 C=0.401
1000Genomes African Sub 1322 T=0.514 C=0.486
1000Genomes East Asian Sub 1008 T=0.484 C=0.516
1000Genomes Europe Sub 1006 T=0.708 C=0.292
1000Genomes South Asian Sub 978 T=0.70 C=0.30
1000Genomes American Sub 694 T=0.63 C=0.37
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.800 C=0.200
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.702 C=0.298
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.710 C=0.290
A Vietnamese Genetic Variation Database Global Study-wide 614 T=0.49 C=0.51
Northern Sweden ACPOP Study-wide 600 T=0.75 C=0.25
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 T= C Note
GRCh38.p12 chr 1 NC_000001.11:g.115768346= NC_000001.11:g.11576834...

NC_000001.11:g.115768346T>C

GRCh37.p13 chr 1 NC_000001.10:g.116310967= NC_000001.10:g.11631096...

NC_000001.10:g.116310967T>C

CASQ2 RefSeqGene (LRG_404) NG_008802.1:g.5460= NG_008802.1:g.5460A>G
CASQ2 transcript NM_001232.3:c.196= NM_001232.3:c.196A>G
calsequestrin-2 precursor NP_001223.2:p.Thr66= NP_001223.2:p.Thr66Ala
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#.

151 SubSNP, 12 Frequency, 4 ClinVar submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss5453840 Oct 10, 2002 (108)
2 SC_JCM ss5655835 Feb 20, 2003 (111)
3 BCM_SSAHASNP ss9846499 Jul 11, 2003 (116)
4 SC_SNP ss16041820 Feb 27, 2004 (120)
5 WIPGA ss16338494 Feb 27, 2004 (120)
6 CSHL-HAPMAP ss19843752 Feb 27, 2004 (120)
7 ABI ss44061169 Mar 13, 2006 (126)
8 APPLERA_GI ss48410381 Mar 13, 2006 (126)
9 ILLUMINA ss65728166 Oct 15, 2006 (127)
10 ILLUMINA ss66779794 Nov 30, 2006 (127)
11 ILLUMINA ss67313763 Nov 30, 2006 (127)
12 ILLUMINA ss67719889 Nov 30, 2006 (127)
13 PERLEGEN ss68778872 May 17, 2007 (127)
14 ILLUMINA ss70792384 May 25, 2008 (130)
15 ILLUMINA ss71370040 May 17, 2007 (127)
16 AFFY ss74809762 Aug 16, 2007 (128)
17 ILLUMINA ss75769576 Dec 07, 2007 (129)
18 ILLUMINA ss79174496 Dec 15, 2007 (130)
19 KRIBB_YJKIM ss84223186 Dec 15, 2007 (130)
20 HUMANGENOME_JCVI ss99243190 Feb 05, 2009 (130)
21 BGI ss106597261 Feb 05, 2009 (130)
22 1000GENOMES ss108546842 Jan 23, 2009 (130)
23 ILLUMINA-UK ss118990015 Feb 15, 2009 (130)
24 ILLUMINA ss122265859 Dec 01, 2009 (131)
25 ENSEMBL ss142507580 Dec 01, 2009 (131)
26 ILLUMINA ss154280868 Dec 01, 2009 (131)
27 ILLUMINA ss159457679 Dec 01, 2009 (131)
28 SEATTLESEQ ss159698408 Dec 01, 2009 (131)
29 ILLUMINA ss160659258 Dec 01, 2009 (131)
30 ILLUMINA ss171731360 Jul 04, 2010 (132)
31 ILLUMINA ss173683267 Jul 04, 2010 (132)
32 BUSHMAN ss198969941 Jul 04, 2010 (132)
33 PHARMGKB_PAT ss202322035 Jul 04, 2010 (132)
34 BCM-HGSC-SUB ss205187349 Jul 04, 2010 (132)
35 1000GENOMES ss210624326 Jul 14, 2010 (132)
36 1000GENOMES ss218612838 Jul 14, 2010 (132)
37 1000GENOMES ss230703842 Jul 14, 2010 (132)
38 1000GENOMES ss238358351 Jul 15, 2010 (132)
39 ILLUMINA ss244298680 Jul 04, 2010 (132)
40 GMI ss275989703 May 04, 2012 (137)
41 GMI ss284126597 Apr 25, 2013 (138)
42 PJP ss290604973 May 09, 2011 (134)
43 NHLBI-ESP ss341984049 May 09, 2011 (134)
44 ILLUMINA ss480886387 May 04, 2012 (137)
45 ILLUMINA ss480905176 May 04, 2012 (137)
46 ILLUMINA ss481851735 Sep 08, 2015 (146)
47 ILLUMINA ss485238283 May 04, 2012 (137)
48 1000GENOMES ss489759240 May 04, 2012 (137)
49 EXOME_CHIP ss491298831 May 04, 2012 (137)
50 CLINSEQ_SNP ss491600938 May 04, 2012 (137)
51 ILLUMINA ss535340333 Sep 08, 2015 (146)
52 ILLUMINA ss537213517 Sep 08, 2015 (146)
53 TISHKOFF ss554612528 Apr 25, 2013 (138)
54 SSMP ss648332966 Apr 25, 2013 (138)
55 ILLUMINA ss778529733 Sep 08, 2015 (146)
56 ILLUMINA ss780892314 Sep 08, 2015 (146)
57 ILLUMINA ss783065059 Sep 08, 2015 (146)
58 ILLUMINA ss783578773 Sep 08, 2015 (146)
59 ILLUMINA ss784023035 Sep 08, 2015 (146)
60 ILLUMINA ss825505014 Jul 19, 2016 (147)
61 ILLUMINA ss832323092 Sep 08, 2015 (146)
62 ILLUMINA ss832969192 Jul 12, 2019 (153)
63 ILLUMINA ss833986250 Sep 08, 2015 (146)
64 JMKIDD_LAB ss974436793 Aug 21, 2014 (142)
65 EVA-GONL ss975602976 Aug 21, 2014 (142)
66 JMKIDD_LAB ss1067424699 Aug 21, 2014 (142)
67 JMKIDD_LAB ss1068216268 Aug 21, 2014 (142)
68 1000GENOMES ss1292555605 Aug 21, 2014 (142)
69 HAMMER_LAB ss1397258390 Sep 08, 2015 (146)
70 DDI ss1425946578 Apr 01, 2015 (144)
71 EVA_GENOME_DK ss1574343613 Apr 01, 2015 (144)
72 EVA_FINRISK ss1584010305 Apr 01, 2015 (144)
73 EVA_DECODE ss1584984561 Apr 01, 2015 (144)
74 EVA_UK10K_ALSPAC ss1601057141 Apr 01, 2015 (144)
75 EVA_UK10K_TWINSUK ss1644051174 Apr 01, 2015 (144)
76 EVA_EXAC ss1685706187 Apr 01, 2015 (144)
77 EVA_MGP ss1710917382 Apr 01, 2015 (144)
78 EVA_SVP ss1712365630 Apr 01, 2015 (144)
79 ILLUMINA ss1751865486 Sep 08, 2015 (146)
80 ILLUMINA ss1751865487 Sep 08, 2015 (146)
81 HAMMER_LAB ss1794976409 Sep 08, 2015 (146)
82 ILLUMINA ss1917733087 Feb 12, 2016 (147)
83 WEILL_CORNELL_DGM ss1918801833 Feb 12, 2016 (147)
84 ILLUMINA ss1946006024 Feb 12, 2016 (147)
85 ILLUMINA ss1946006025 Feb 12, 2016 (147)
86 ILLUMINA ss1958305901 Feb 12, 2016 (147)
87 ILLUMINA ss1958305902 Feb 12, 2016 (147)
88 GENOMED ss1966848757 Jul 19, 2016 (147)
89 JJLAB ss2019926286 Sep 14, 2016 (149)
90 USC_VALOUEV ss2147945367 Dec 20, 2016 (150)
91 HUMAN_LONGEVITY ss2165970994 Dec 20, 2016 (150)
92 TOPMED ss2328337559 Dec 20, 2016 (150)
93 SYSTEMSBIOZJU ss2624472314 Nov 08, 2017 (151)
94 ILLUMINA ss2632567171 Nov 08, 2017 (151)
95 ILLUMINA ss2632567172 Nov 08, 2017 (151)
96 ILLUMINA ss2632567173 Nov 08, 2017 (151)
97 GRF ss2697875289 Nov 08, 2017 (151)
98 ILLUMINA ss2710680818 Nov 08, 2017 (151)
99 GNOMAD ss2731742406 Nov 08, 2017 (151)
100 GNOMAD ss2746403033 Nov 08, 2017 (151)
101 GNOMAD ss2759912910 Nov 08, 2017 (151)
102 AFFY ss2984872061 Nov 08, 2017 (151)
103 AFFY ss2985523299 Nov 08, 2017 (151)
104 SWEGEN ss2987489087 Nov 08, 2017 (151)
105 ILLUMINA ss3021124149 Nov 08, 2017 (151)
106 ILLUMINA ss3021124150 Nov 08, 2017 (151)
107 EVA_SAMSUNG_MC ss3023056937 Nov 08, 2017 (151)
108 BIOINF_KMB_FNS_UNIBA ss3023727589 Nov 08, 2017 (151)
109 TOPMED ss3087616526 Nov 08, 2017 (151)
110 CSHL ss3343649789 Nov 08, 2017 (151)
111 ILLUMINA ss3625548271 Oct 11, 2018 (152)
112 ILLUMINA ss3626190194 Oct 11, 2018 (152)
113 ILLUMINA ss3626190195 Oct 11, 2018 (152)
114 ILLUMINA ss3626190196 Oct 11, 2018 (152)
115 ILLUMINA ss3630600643 Oct 11, 2018 (152)
116 ILLUMINA ss3632907356 Oct 11, 2018 (152)
117 ILLUMINA ss3633602546 Oct 11, 2018 (152)
118 ILLUMINA ss3634344910 Oct 11, 2018 (152)
119 ILLUMINA ss3634344911 Oct 11, 2018 (152)
120 ILLUMINA ss3635296071 Oct 11, 2018 (152)
121 ILLUMINA ss3636024374 Oct 11, 2018 (152)
122 ILLUMINA ss3637046541 Oct 11, 2018 (152)
123 ILLUMINA ss3637782171 Oct 11, 2018 (152)
124 ILLUMINA ss3638908883 Oct 11, 2018 (152)
125 ILLUMINA ss3639452563 Oct 11, 2018 (152)
126 ILLUMINA ss3640052269 Oct 11, 2018 (152)
127 ILLUMINA ss3640052270 Oct 11, 2018 (152)
128 ILLUMINA ss3642791773 Oct 11, 2018 (152)
129 ILLUMINA ss3644501996 Oct 11, 2018 (152)
130 ILLUMINA ss3644501997 Oct 11, 2018 (152)
131 OMUKHERJEE_ADBS ss3646235309 Oct 11, 2018 (152)
132 URBANLAB ss3646759298 Oct 11, 2018 (152)
133 ILLUMINA ss3651457135 Oct 11, 2018 (152)
134 ILLUMINA ss3651457136 Oct 11, 2018 (152)
135 ILLUMINA ss3653644129 Oct 11, 2018 (152)
136 EGCUT_WGS ss3655579635 Jul 12, 2019 (153)
137 EVA_DECODE ss3687591669 Jul 12, 2019 (153)
138 ILLUMINA ss3725057533 Jul 12, 2019 (153)
139 ACPOP ss3727415759 Jul 12, 2019 (153)
140 ILLUMINA ss3744052744 Jul 12, 2019 (153)
141 ILLUMINA ss3744350210 Jul 12, 2019 (153)
142 ILLUMINA ss3744645853 Jul 12, 2019 (153)
143 ILLUMINA ss3744645854 Jul 12, 2019 (153)
144 EVA ss3746710203 Jul 12, 2019 (153)
145 PAGE_CC ss3770835261 Jul 12, 2019 (153)
146 ILLUMINA ss3772147040 Jul 12, 2019 (153)
147 ILLUMINA ss3772147041 Jul 12, 2019 (153)
148 PACBIO ss3783528184 Jul 12, 2019 (153)
149 PACBIO ss3789168575 Jul 12, 2019 (153)
150 PACBIO ss3794041525 Jul 12, 2019 (153)
151 KHV_HUMAN_GENOMES ss3799711911 Jul 12, 2019 (153)
152 1000Genomes NC_000001.10 - 116310967 Oct 11, 2018 (152)
153 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 116310967 Oct 11, 2018 (152)
154 Genetic variation in the Estonian population NC_000001.10 - 116310967 Oct 11, 2018 (152)
155 ExAC NC_000001.10 - 116310967 Oct 11, 2018 (152)
156 gnomAD - Genomes NC_000001.10 - 116310967 Jul 12, 2019 (153)
157 gnomAD - Exomes NC_000001.10 - 116310967 Jul 12, 2019 (153)
158 GO Exome Sequencing Project NC_000001.10 - 116310967 Oct 11, 2018 (152)
159 Northern Sweden NC_000001.10 - 116310967 Jul 12, 2019 (153)
160 The PAGE Study NC_000001.11 - 115768346 Jul 12, 2019 (153)
161 TopMed NC_000001.11 - 115768346 Oct 11, 2018 (152)
162 UK 10K study - Twins NC_000001.10 - 116310967 Oct 11, 2018 (152)
163 A Vietnamese Genetic Variation Database NC_000001.10 - 116310967 Jul 12, 2019 (153)
164 ClinVar RCV000037136.4 Oct 11, 2018 (152)
165 ClinVar RCV000247814.1 Oct 11, 2018 (152)
166 ClinVar RCV000389613.1 Oct 11, 2018 (152)
167 ClinVar RCV000604412.1 Oct 11, 2018 (152)
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).

Associated ID History Updated (Build)
rs52800545 Sep 21, 2007 (128)
rs59883665 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3638908883, ss3639452563 NC_000001.8:116023008:T:C NC_000001.11:115768345:T:C (self)
ss108546842, ss118990015, ss198969941, ss205187349, ss210624326, ss275989703, ss284126597, ss290604973, ss480886387, ss491600938, ss825505014, ss1397258390, ss1584984561, ss1712365630, ss3642791773 NC_000001.9:116112489:T:C NC_000001.11:115768345:T:C (self)
3335867, 1847464, 1317883, 4916843, 9149606, 766869, 103935, 700624, 1847464, 399494, ss218612838, ss230703842, ss238358351, ss341984049, ss480905176, ss481851735, ss485238283, ss489759240, ss491298831, ss535340333, ss537213517, ss554612528, ss648332966, ss778529733, ss780892314, ss783065059, ss783578773, ss784023035, ss832323092, ss832969192, ss833986250, ss974436793, ss975602976, ss1067424699, ss1068216268, ss1292555605, ss1425946578, ss1574343613, ss1584010305, ss1601057141, ss1644051174, ss1685706187, ss1710917382, ss1751865486, ss1751865487, ss1794976409, ss1917733087, ss1918801833, ss1946006024, ss1946006025, ss1958305901, ss1958305902, ss1966848757, ss2019926286, ss2147945367, ss2328337559, ss2624472314, ss2632567171, ss2632567172, ss2632567173, ss2697875289, ss2710680818, ss2731742406, ss2746403033, ss2759912910, ss2984872061, ss2985523299, ss2987489087, ss3021124149, ss3021124150, ss3023056937, ss3343649789, ss3625548271, ss3626190194, ss3626190195, ss3626190196, ss3630600643, ss3632907356, ss3633602546, ss3634344910, ss3634344911, ss3635296071, ss3636024374, ss3637046541, ss3637782171, ss3640052269, ss3640052270, ss3644501996, ss3644501997, ss3646235309, ss3651457135, ss3651457136, ss3653644129, ss3655579635, ss3727415759, ss3744052744, ss3744350210, ss3744645853, ss3744645854, ss3746710203, ss3772147040, ss3772147041, ss3783528184, ss3789168575, ss3794041525 NC_000001.10:116310966:T:C NC_000001.11:115768345:T:C (self)
RCV000037136.4, RCV000247814.1, RCV000389613.1, RCV000604412.1, 56730, 17833685, ss2165970994, ss3023727589, ss3087616526, ss3646759298, ss3687591669, ss3725057533, ss3770835261, ss3799711911 NC_000001.11:115768345:T:C NC_000001.11:115768345:T:C (self)
ss9846499 NT_004754.14:226551:T:C NC_000001.11:115768345:T:C (self)
ss16041820, ss19843752 NT_004754.15:226551:T:C NC_000001.11:115768345:T:C (self)
ss5453840, ss5655835, ss16338494, ss44061169, ss48410381, ss65728166, ss66779794, ss67313763, ss67719889, ss68778872, ss70792384, ss71370040, ss74809762, ss75769576, ss79174496, ss84223186, ss99243190, ss106597261, ss122265859, ss142507580, ss154280868, ss159457679, ss159698408, ss160659258, ss171731360, ss173683267, ss202322035, ss244298680 NT_032977.9:86282884:T:C NC_000001.11:115768345:T:C (self)
Help

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

9 citations for rs4074536
PMID Title Author Year Journal
14571276 Molecular genetics of exercise-induced polymorphic ventricular tachycardia: identification of three novel cardiac ryanodine receptor mutations and two common calsequestrin 2 amino-acid polymorphisms. Laitinen PJ et al. 2003 European journal of human genetics
19709828 Genetic variability of RyR2 and CASQ2 genes in an Asian population. Wong CH et al. 2009 Forensic science international
21076409 Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. Sotoodehnia N et al. 2010 Nature genetics
23834954 Genome-wide association study of sensory disturbances in the inferior alveolar nerve after bilateral sagittal split ramus osteotomy. Kobayashi D et al. 2013 Molecular pain
23861362 Interpreting secondary cardiac disease variants in an exome cohort. Ng D et al. 2013 Circulation. Cardiovascular genetics
24033266 A systematic approach to assessing the clinical significance of genetic variants. Duzkale H et al. 2013 Clinical genetics
24048583 Common genetic variants in selected Ca²⁺ signaling genes and the risk of appropriate ICD interventions in patients with heart failure. Francia P et al. 2013 Journal of interventional cardiac electrophysiology
24846176 Genome-wide identification of expression quantitative trait loci (eQTLs) in human heart. Koopmann TT et al. 2014 PloS one
25741868 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S et al. 2015 Genetics in medicine

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.post270+ab078da