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dbSNP Short Genetic Variations

Reference SNP (rs) Report

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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.

rs1595064

Current Build 151

Released July 17, 2018

Organism
Homo sapiens
Position
chr2:211378020 (GRCh38.p7) 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
G>A / G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.43537 (54669/125568, TOPMED)
C=0.4109 (12670/30834, GnomAD)
C=0.492 (2463/5008, 1000G) (+ 2 more)
C=0.353 (1362/3854, ALSPAC)
C=0.364 (1348/3708, TWINSUK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ERBB4 : 3 Prime UTR Variant
Publications
2 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.p7 chr 2 NC_000002.12:g.211378020G>A
GRCh38.p7 chr 2 NC_000002.12:g.211378020G>C
GRCh37.p13 chr 2 NC_000002.11:g.212242745G>A
GRCh37.p13 chr 2 NC_000002.11:g.212242745G>C
ERBB4 RefSeqGene NG_011805.1:g.1165608C>T
ERBB4 RefSeqGene NG_011805.1:g.1165608C>G
Gene: ERBB4, erb-b2 receptor tyrosine kinase 4 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ERBB4 transcript variant JM-a/CVT-2 NM_001042599.1:c. N/A 3 Prime UTR Variant
ERBB4 transcript variant JM-a/CVT-1 NM_005235.2:c. N/A 3 Prime UTR Variant
ERBB4 transcript variant X1 XM_017003577.1:c. N/A 3 Prime UTR Variant
ERBB4 transcript variant X2 XM_017003578.1:c. N/A 3 Prime UTR Variant
ERBB4 transcript variant X3 XM_017003579.1:c. N/A 3 Prime UTR Variant
ERBB4 transcript variant X4 XM_017003580.1:c. N/A 3 Prime UTR Variant
ERBB4 transcript variant X5 XM_006712364.2:c. N/A 3 Prime UTR Variant
ERBB4 transcript variant X6 XM_017003581.1:c. N/A 3 Prime UTR Variant
ERBB4 transcript variant X7 XM_005246376.2:c. N/A 3 Prime UTR Variant
ERBB4 transcript variant X8 XM_005246377.2:c. N/A 3 Prime UTR Variant
ERBB4 transcript variant X9 XM_017003582.1:c. N/A 3 Prime UTR 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.

Not Reported in ClinVar
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
Trans-Omics for Precision Medicine Global Study-wide 125568 G=0.56463 C=0.43537
The Genome Aggregation Database Global Study-wide 30834 G=0.5891 C=0.4109
The Genome Aggregation Database European Sub 18444 G=0.6679 C=0.3321
The Genome Aggregation Database African Sub 8698 G=0.417 C=0.583
The Genome Aggregation Database East Asian Sub 1576 G=0.566 C=0.434
The Genome Aggregation Database Other Sub 976 G=0.65 C=0.35
The Genome Aggregation Database American Sub 838 G=0.59 C=0.41
The Genome Aggregation Database Ashkenazi Jewish Sub 302 G=0.63 C=0.37
1000Genomes Global Study-wide 5008 G=0.508 C=0.492
1000Genomes African Sub 1322 G=0.396 C=0.604
1000Genomes East Asian Sub 1008 G=0.564 C=0.436
1000Genomes Europe Sub 1006 G=0.642 C=0.358
1000Genomes South Asian Sub 978 G=0.39 C=0.61
1000Genomes American Sub 694 G=0.62 C=0.38
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.647 C=0.353
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.636 C=0.364
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 G= A C Note
GRCh38.p7 chr 2 NC_000002.12:g.21...

NC_000002.12:g.211378020G=

NC_000002.12:g.21...

NC_000002.12:g.211378020G>A

NC_000002.12:g.21...

NC_000002.12:g.211378020G>C

GRCh37.p13 chr 2 NC_000002.11:g.21...

NC_000002.11:g.212242745G=

NC_000002.11:g.21...

NC_000002.11:g.212242745G>A

NC_000002.11:g.21...

NC_000002.11:g.212242745G>C

ERBB4 RefSeqGene NG_011805.1:g.116...

NG_011805.1:g.1165608C=

NG_011805.1:g.116...

NG_011805.1:g.1165608C>T

NG_011805.1:g.116...

NG_011805.1:g.1165608C>G

ERBB4 transcript variant JM-a/CVT-1 NM_005235.2:c.*55...

NM_005235.2:c.*5595C=

NM_005235.2:c.*55...

NM_005235.2:c.*5595C>T

NM_005235.2:c.*55...

NM_005235.2:c.*5595C>G

ERBB4 transcript variant JM-a/CVT-2 NM_001042599.1:c....

NM_001042599.1:c.*5595C=

NM_001042599.1:c....

NM_001042599.1:c.*5595C>T

NM_001042599.1:c....

NM_001042599.1:c.*5595C>G

ERBB4 transcript variant X5 XM_006712364.2:c....

XM_006712364.2:c.*5595C=

XM_006712364.2:c....

XM_006712364.2:c.*5595C>T

XM_006712364.2:c....

XM_006712364.2:c.*5595C>G

ERBB4 transcript variant X7 XM_005246376.2:c....

XM_005246376.2:c.*5595C=

XM_005246376.2:c....

XM_005246376.2:c.*5595C>T

XM_005246376.2:c....

XM_005246376.2:c.*5595C>G

ERBB4 transcript variant X3 XM_005246376.1:c....

XM_005246376.1:c.*5595C=

XM_005246376.1:c....

XM_005246376.1:c.*5595C>T

XM_005246376.1:c....

XM_005246376.1:c.*5595C>G

ERBB4 transcript variant X8 XM_005246377.2:c....

XM_005246377.2:c.*5595C=

XM_005246377.2:c....

XM_005246377.2:c.*5595C>T

XM_005246377.2:c....

XM_005246377.2:c.*5595C>G

ERBB4 transcript variant X4 XM_005246377.1:c....

XM_005246377.1:c.*5595C=

XM_005246377.1:c....

XM_005246377.1:c.*5595C>T

XM_005246377.1:c....

XM_005246377.1:c.*5595C>G

ERBB4 transcript variant X1 XM_017003577.1:c....

XM_017003577.1:c.*5595C=

XM_017003577.1:c....

XM_017003577.1:c.*5595C>T

XM_017003577.1:c....

XM_017003577.1:c.*5595C>G

ERBB4 transcript variant X2 XM_017003578.1:c....

XM_017003578.1:c.*5595C=

XM_017003578.1:c....

XM_017003578.1:c.*5595C>T

XM_017003578.1:c....

XM_017003578.1:c.*5595C>G

ERBB4 transcript variant X3 XM_017003579.1:c....

XM_017003579.1:c.*5595C=

XM_017003579.1:c....

XM_017003579.1:c.*5595C>T

XM_017003579.1:c....

XM_017003579.1:c.*5595C>G

ERBB4 transcript variant X4 XM_017003580.1:c....

XM_017003580.1:c.*5595C=

XM_017003580.1:c....

XM_017003580.1:c.*5595C>T

XM_017003580.1:c....

XM_017003580.1:c.*5595C>G

ERBB4 transcript variant X6 XM_017003581.1:c....

XM_017003581.1:c.*5595C=

XM_017003581.1:c....

XM_017003581.1:c.*5595C>T

XM_017003581.1:c....

XM_017003581.1:c.*5595C>G

ERBB4 transcript variant X9 XM_017003582.1:c....

XM_017003582.1:c.*5595C=

XM_017003582.1:c....

XM_017003582.1:c.*5595C>T

XM_017003582.1:c....

XM_017003582.1:c.*5595C>G

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#.

5 Frequency, 53 SubSNP submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss2246155 Oct 24, 2000 (88)
2 ABI ss44154540 Mar 14, 2006 (126)
3 HGSV ss80357768 Dec 15, 2007 (130)
4 BCMHGSC_JDW ss91531466 Mar 24, 2008 (129)
5 BGI ss103669674 Dec 01, 2009 (131)
6 1000GENOMES ss111599957 Jan 25, 2009 (130)
7 ILLUMINA-UK ss118063271 Feb 14, 2009 (130)
8 ENSEMBL ss138622970 Dec 01, 2009 (131)
9 GMI ss154651240 Dec 01, 2009 (131)
10 ILLUMINA ss160377187 Dec 01, 2009 (131)
11 ENSEMBL ss161229809 Dec 01, 2009 (131)
12 COMPLETE_GENOMICS ss165403743 Jul 04, 2010 (132)
13 COMPLETE_GENOMICS ss167560857 Jul 04, 2010 (132)
14 BUSHMAN ss201686731 Jul 04, 2010 (132)
15 BCM-HGSC-SUB ss205929914 Jul 04, 2010 (132)
16 1000GENOMES ss210517585 Jul 14, 2010 (132)
17 1000GENOMES ss219789912 Jul 14, 2010 (132)
18 1000GENOMES ss231570069 Jul 14, 2010 (132)
19 1000GENOMES ss239033960 Jul 15, 2010 (132)
20 BL ss253853024 May 09, 2011 (134)
21 GMI ss276883791 May 04, 2012 (137)
22 PJP ss292479933 May 09, 2011 (134)
23 ILLUMINA ss480726102 Sep 08, 2015 (146)
24 ILLUMINA ss535381579 Sep 08, 2015 (146)
25 TISHKOFF ss556194560 Apr 25, 2013 (138)
26 SSMP ss649860878 Apr 25, 2013 (138)
27 EVA-GONL ss977919106 Aug 21, 2014 (142)
28 JMKIDD_LAB ss1069908695 Aug 21, 2014 (142)
29 1000GENOMES ss1301494601 Aug 21, 2014 (142)
30 DDI ss1428898154 Apr 01, 2015 (144)
31 EVA_GENOME_DK ss1579306122 Apr 01, 2015 (144)
32 EVA_DECODE ss1587373183 Apr 01, 2015 (144)
33 EVA_UK10K_ALSPAC ss1605711914 Apr 01, 2015 (144)
34 EVA_UK10K_TWINSUK ss1648705947 Apr 01, 2015 (144)
35 EVA_MGP ss1710995232 Apr 01, 2015 (144)
36 HAMMER_LAB ss1798295554 Sep 08, 2015 (146)
37 WEILL_CORNELL_DGM ss1921164298 Feb 12, 2016 (147)
38 GENOMED ss1969014595 Jul 19, 2016 (147)
39 JJLAB ss2021127884 Sep 14, 2016 (149)
40 CSHL ss2136680101 Nov 08, 2017 (151)
41 USC_VALOUEV ss2149190942 Dec 20, 2016 (150)
42 HUMAN_LONGEVITY ss2238834415 Dec 20, 2016 (150)
43 TOPMED ss2405289878 Dec 20, 2016 (150)
44 SYSTEMSBIOZJU ss2625064615 Nov 08, 2017 (151)
45 GRF ss2703839792 Nov 08, 2017 (151)
46 GNOMAD ss2785906447 Nov 08, 2017 (151)
47 SWEGEN ss2991295739 Nov 08, 2017 (151)
48 BIOINF_KMB_FNS_UNIBA ss3024322103 Nov 08, 2017 (151)
49 TOPMED ss3337419212 Nov 08, 2017 (151)
50 TOPMED ss3337419213 Nov 08, 2017 (151)
51 CSHL ss3344723254 Nov 08, 2017 (151)
52 ILLUMINA ss3628277447 Jul 19, 2018 (151)
53 ILLUMINA ss3636499668 Jul 19, 2018 (151)
54 1000Genomes NC_000002.11 - 212242745 Jul 19, 2018 (151)
55 The Avon Longitudinal Study of Parents and Children NC_000002.11 - 212242745 Jul 19, 2018 (151)
56 The Genome Aggregation Database NC_000002.11 - 212242745 Jul 19, 2018 (151)
57 Trans-Omics for Precision Medicine NC_000002.12 - 211378020 Jul 19, 2018 (151)
58 UK 10K study - Twins NC_000002.11 - 212242745 Jul 19, 2018 (151)
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)
rs60767135 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss80357768 NC_000002.9:212068250:G= NC_000002.12:211378019:G= (self)
ss91531466, ss111599957, ss118063271, ss165403743, ss167560857, ss201686731, ss205929914, ss210517585, ss253853024, ss276883791, ss292479933, ss1587373183, ss2136680101 NC_000002.10:211950989:G= NC_000002.12:211378019:G= (self)
12593832, 6961258, 115396308, 6961258, ss219789912, ss231570069, ss239033960, ss480726102, ss535381579, ss556194560, ss649860878, ss977919106, ss1069908695, ss1301494601, ss1428898154, ss1579306122, ss1605711914, ss1648705947, ss1710995232, ss1798295554, ss1921164298, ss1969014595, ss2021127884, ss2149190942, ss2405289878, ss2625064615, ss2703839792, ss2785906447, ss2991295739, ss3344723254, ss3628277447, ss3636499668 NC_000002.11:212242744:G= NC_000002.12:211378019:G= (self)
216691302, ss2238834415, ss3024322103, ss3337419212, ss3337419213 NC_000002.12:211378019:G= NC_000002.12:211378019:G= (self)
ss2246155, ss44154540, ss103669674, ss138622970, ss154651240, ss160377187, ss161229809 NT_005403.17:62452162:G= NC_000002.12:211378019:G= (self)
ss3337419212 NC_000002.12:211378019:G>A NC_000002.12:211378019:G>A (self)
ss80357768 NC_000002.9:212068250:G>C NC_000002.12:211378019:G>C (self)
ss91531466, ss111599957, ss118063271, ss165403743, ss167560857, ss201686731, ss205929914, ss210517585, ss253853024, ss276883791, ss292479933, ss1587373183, ss2136680101 NC_000002.10:211950989:G>C NC_000002.12:211378019:G>C (self)
12593832, 6961258, 115396308, 6961258, ss219789912, ss231570069, ss239033960, ss480726102, ss535381579, ss556194560, ss649860878, ss977919106, ss1069908695, ss1301494601, ss1428898154, ss1579306122, ss1605711914, ss1648705947, ss1710995232, ss1798295554, ss1921164298, ss1969014595, ss2021127884, ss2149190942, ss2405289878, ss2625064615, ss2703839792, ss2785906447, ss2991295739, ss3344723254, ss3628277447, ss3636499668 NC_000002.11:212242744:G>C NC_000002.12:211378019:G>C (self)
216691302, ss2238834415, ss3024322103, ss3337419213 NC_000002.12:211378019:G>C NC_000002.12:211378019:G>C (self)
ss2246155, ss44154540, ss103669674, ss138622970, ss154651240, ss160377187, ss161229809 NT_005403.17:62452162:G>C NC_000002.12:211378019:G>C (self)
Help

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

2 citations for rs1595064
PMID Title Author Year Journal
26844763 ErbB4 Gene Polymorphism Is Associated With the Risk and Prognosis of Congestive Heart Failure in a Northern Han Chinese Population. Wang Y et al. 2016 Journal of cardiac failure
26959740 A single-nucleotide polymorphism in the 3'-UTR region of the adipocyte fatty acid binding protein 4 gene is associated with prognosis of triple-negative breast cancer. Wang W et al. 2016 Oncotarget

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: 0.1.4.post833+d3ba21e