Name: rs1073179
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.

rs1073179

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:231889428 (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: A>C / A>G / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.340988 (105400/309102, ALFA)
G=0.323121 (85527/264690, TOPMED)
G=0.335932 (47054/140070, GnomAD) (+ 20 more)
G=0.28104 (22116/78694, PAGE_STUDY)
G=0.09545 (2697/28256, 14KJPN)
G=0.09439 (1582/16760, 8.3KJPN)
G=0.2811 (1800/6404, 1000G_30x)
G=0.2784 (1394/5008, 1000G)
G=0.4161 (1864/4480, Estonian)
G=0.3633 (1400/3854, ALSPAC)
G=0.3716 (1378/3708, TWINSUK)
G=0.1075 (314/2922, KOREAN)
G=0.2721 (567/2084, HGDP_Stanford)
G=0.342 (341/998, GoNL)
G=0.129 (102/788, PRJEB37584)
G=0.272 (170/626, Chileans)
G=0.445 (267/600, NorthernSweden)
A=0.405 (89/220, SGDP_PRJ)
G=0.273 (59/216, Qatari)
G=0.093 (20/216, Vietnamese)
G=0.25 (10/40, GENOME_DK)
G=0.29 (8/28, Ancient Sardinia)
A=0.42 (10/24, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: DISC1 : Intron Variant
TSNAX-DISC1 : Intron Variant
Publications: 3 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	314230	A=0.659189	C=0.000000, G=0.340811, T=0.000000
European	Sub	275590	A=0.650757	C=0.000000, G=0.349243, T=0.000000
African	Sub	8740	A=0.7288	C=0.0000, G=0.2712, T=0.0000
African Others	Sub	336	A=0.747	C=0.000, G=0.253, T=0.000
African American	Sub	8404	A=0.7281	C=0.0000, G=0.2719, T=0.0000
Asian	Sub	3962	A=0.9016	C=0.0000, G=0.0984, T=0.0000
East Asian	Sub	3184	A=0.8910	C=0.0000, G=0.1090, T=0.0000
Other Asian	Sub	778	A=0.945	C=0.000, G=0.055, T=0.000
Latin American 1	Sub	1198	A=0.6603	C=0.0000, G=0.3397, T=0.0000
Latin American 2	Sub	9048	A=0.6937	C=0.0000, G=0.3063, T=0.0000
South Asian	Sub	5190	A=0.6671	C=0.0000, G=0.3329, T=0.0000
Other	Sub	10502	A=0.69730	C=0.00000, G=0.30270, T=0.00000

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
Allele Frequency Aggregator	Total	Global	309102	A=0.659012	C=0.000000, G=0.340988, T=0.000000
Allele Frequency Aggregator	European	Sub	272422	A=0.650634	C=0.000000, G=0.349366, T=0.000000
Allele Frequency Aggregator	Other	Sub	9684	A=0.7004	C=0.0000, G=0.2996, T=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	9048	A=0.6937	C=0.0000, G=0.3063, T=0.0000
Allele Frequency Aggregator	African	Sub	7598	A=0.7331	C=0.0000, G=0.2669, T=0.0000
Allele Frequency Aggregator	South Asian	Sub	5190	A=0.6671	C=0.0000, G=0.3329, T=0.0000
Allele Frequency Aggregator	Asian	Sub	3962	A=0.9016	C=0.0000, G=0.0984, T=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	1198	A=0.6603	C=0.0000, G=0.3397, T=0.0000
TopMed	Global	Study-wide	264690	A=0.676879	G=0.323121
gnomAD - Genomes	Global	Study-wide	140070	A=0.664068	G=0.335932
gnomAD - Genomes	European	Sub	75854	A=0.63867	G=0.36133
gnomAD - Genomes	African	Sub	41972	A=0.67945	G=0.32055
gnomAD - Genomes	American	Sub	13650	A=0.69538	G=0.30462
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	A=0.6830	G=0.3170
gnomAD - Genomes	East Asian	Sub	3124	A=0.9043	G=0.0957
gnomAD - Genomes	Other	Sub	2148	A=0.6825	G=0.3175
The PAGE Study	Global	Study-wide	78694	A=0.71896	G=0.28104
The PAGE Study	AfricanAmerican	Sub	32514	A=0.67719	G=0.32281
The PAGE Study	Mexican	Sub	10810	A=0.67447	G=0.32553
The PAGE Study	Asian	Sub	8318	A=0.9160	G=0.0840
The PAGE Study	PuertoRican	Sub	7914	A=0.6909	G=0.3091
The PAGE Study	NativeHawaiian	Sub	4532	A=0.8771	G=0.1229
The PAGE Study	Cuban	Sub	4230	A=0.6778	G=0.3222
The PAGE Study	Dominican	Sub	3828	A=0.7004	G=0.2996
The PAGE Study	CentralAmerican	Sub	2450	A=0.7176	G=0.2824
The PAGE Study	SouthAmerican	Sub	1982	A=0.7200	G=0.2800
The PAGE Study	NativeAmerican	Sub	1260	A=0.6802	G=0.3198
The PAGE Study	SouthAsian	Sub	856	A=0.721	G=0.279
14KJPN	JAPANESE	Study-wide	28256	A=0.90455	G=0.09545
8.3KJPN	JAPANESE	Study-wide	16760	A=0.90561	G=0.09439
1000Genomes_30x	Global	Study-wide	6404	A=0.7189	G=0.2811
1000Genomes_30x	African	Sub	1786	A=0.7072	G=0.2928
1000Genomes_30x	Europe	Sub	1266	A=0.6477	G=0.3523
1000Genomes_30x	South Asian	Sub	1202	A=0.6780	G=0.3220
1000Genomes_30x	East Asian	Sub	1170	A=0.8547	G=0.1453
1000Genomes_30x	American	Sub	980	A=0.720	G=0.280
1000Genomes	Global	Study-wide	5008	A=0.7216	G=0.2784
1000Genomes	African	Sub	1322	A=0.7073	G=0.2927
1000Genomes	East Asian	Sub	1008	A=0.8621	G=0.1379
1000Genomes	Europe	Sub	1006	A=0.6362	G=0.3638
1000Genomes	South Asian	Sub	978	A=0.687	G=0.313
1000Genomes	American	Sub	694	A=0.718	G=0.282
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.5839	G=0.4161
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.6367	G=0.3633
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.6284	G=0.3716
KOREAN population from KRGDB	KOREAN	Study-wide	2922	A=0.8925	G=0.1075
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	A=0.7279	G=0.2721
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	A=0.813	G=0.187
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	A=0.698	G=0.302
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	A=0.683	G=0.317
HGDP-CEPH-db Supplement 1	Europe	Sub	320	A=0.656	G=0.344
HGDP-CEPH-db Supplement 1	Africa	Sub	242	A=0.764	G=0.236
HGDP-CEPH-db Supplement 1	America	Sub	216	A=0.671	G=0.329
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	A=0.93	G=0.07
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.658	G=0.342
CNV burdens in cranial meningiomas	Global	Study-wide	788	A=0.871	G=0.129
CNV burdens in cranial meningiomas	CRM	Sub	788	A=0.871	G=0.129
Chileans	Chilean	Study-wide	626	A=0.728	G=0.272
Northern Sweden	ACPOP	Study-wide	600	A=0.555	G=0.445
SGDP_PRJ	Global	Study-wide	220	A=0.405	G=0.595
Qatari	Global	Study-wide	216	A=0.727	G=0.273
A Vietnamese Genetic Variation Database	Global	Study-wide	216	A=0.907	G=0.093
The Danish reference pan genome	Danish	Study-wide	40	A=0.75	G=0.25
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	28	A=0.71	G=0.29
Siberian	Global	Study-wide	24	A=0.42	G=0.58

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 1	NC_000001.11:g.231889428A>C
GRCh38.p14 chr 1	NC_000001.11:g.231889428A>G
GRCh38.p14 chr 1	NC_000001.11:g.231889428A>T
GRCh37.p13 chr 1	NC_000001.10:g.232025174A>C
GRCh37.p13 chr 1	NC_000001.10:g.232025174A>G
GRCh37.p13 chr 1	NC_000001.10:g.232025174A>T
DISC1 RefSeqGene	NG_011681.2:g.267614A>C
DISC1 RefSeqGene	NG_011681.2:g.267614A>G
DISC1 RefSeqGene	NG_011681.2:g.267614A>T

Gene: DISC1, DISC1 scaffold protein (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
DISC1 transcript variant Lv	NM_001012957.2:c.1982-694… NM_001012957.2:c.1982-69400A>C	N/A	Intron Variant
DISC1 transcript variant a	NM_001164537.2:c.2078-694… NM_001164537.2:c.2078-69400A>C	N/A	Intron Variant
DISC1 transcript variant b	NM_001164538.2:c.1982-694… NM_001164538.2:c.1982-69400A>C	N/A	Intron Variant
DISC1 transcript variant d	NM_001164540.2:c.1616-694… NM_001164540.2:c.1616-69400A>C	N/A	Intron Variant
DISC1 transcript variant e	NM_001164541.2:c.1981+709… NM_001164541.2:c.1981+70911A>C	N/A	Intron Variant
DISC1 transcript variant f	NM_001164542.2:c.1982-694… NM_001164542.2:c.1982-69400A>C	N/A	Intron Variant
DISC1 transcript variant i	NM_001164546.2:c.1635-694… NM_001164546.2:c.1635-69400A>C	N/A	Intron Variant
DISC1 transcript variant j	NM_001164547.2:c.1635-694… NM_001164547.2:c.1635-69400A>C	N/A	Intron Variant
DISC1 transcript variant L	NM_018662.3:c.1982-69400A… NM_018662.3:c.1982-69400A>C	N/A	Intron Variant
DISC1 transcript variant Es	NM_001012958.2:c.	N/A	Genic Downstream Transcript Variant
DISC1 transcript variant S	NM_001012959.2:c.	N/A	Genic Downstream Transcript Variant
DISC1 transcript variant c	NM_001164539.2:c.	N/A	Genic Downstream Transcript Variant
DISC1 transcript variant g	NM_001164544.2:c.	N/A	Genic Downstream Transcript Variant
DISC1 transcript variant h	NM_001164545.2:c.	N/A	Genic Downstream Transcript Variant
DISC1 transcript variant k	NM_001164548.2:c.	N/A	Genic Downstream Transcript Variant
DISC1 transcript variant l	NM_001164549.2:c.	N/A	Genic Downstream Transcript Variant
DISC1 transcript variant m	NM_001164550.2:c.	N/A	Genic Downstream Transcript Variant
DISC1 transcript variant n	NM_001164551.2:c.	N/A	Genic Downstream Transcript Variant
DISC1 transcript variant o	NM_001164552.2:c.	N/A	Genic Downstream Transcript Variant
DISC1 transcript variant p	NM_001164553.2:c.	N/A	Genic Downstream Transcript Variant
DISC1 transcript variant q	NM_001164554.2:c.	N/A	Genic Downstream Transcript Variant
DISC1 transcript variant r	NM_001164555.2:c.	N/A	Genic Downstream Transcript Variant
DISC1 transcript variant t	NM_001164556.2:c.	N/A	Genic Downstream Transcript Variant

Gene: TSNAX-DISC1, TSNAX-DISC1 readthrough (NMD candidate) (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TSNAX-DISC1 transcript variant 1	NR_028393.1:n.	N/A	Intron Variant
TSNAX-DISC1 transcript variant 2	NR_028394.1:n.	N/A	Genic Downstream Transcript Variant
TSNAX-DISC1 transcript variant 3	NR_028395.1:n.	N/A	Genic Downstream Transcript Variant
TSNAX-DISC1 transcript variant 4	NR_028396.1:n.	N/A	Genic Downstream Transcript Variant
TSNAX-DISC1 transcript variant 5	NR_028397.1:n.	N/A	Genic Downstream Transcript Variant
TSNAX-DISC1 transcript variant 6	NR_028398.1:n.	N/A	Genic Downstream Transcript Variant
TSNAX-DISC1 transcript variant 7	NR_028399.1:n.	N/A	Genic Downstream Transcript Variant
TSNAX-DISC1 transcript variant 8	NR_028400.1:n.	N/A	Genic Downstream 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	A=	C	G	T
GRCh38.p14 chr 1	NC_000001.11:g.231889428=	NC_000001.11:g.231889428A>C	NC_000001.11:g.231889428A>G	NC_000001.11:g.231889428A>T
GRCh37.p13 chr 1	NC_000001.10:g.232025174=	NC_000001.10:g.232025174A>C	NC_000001.10:g.232025174A>G	NC_000001.10:g.232025174A>T
DISC1 RefSeqGene	NG_011681.2:g.267614=	NG_011681.2:g.267614A>C	NG_011681.2:g.267614A>G	NG_011681.2:g.267614A>T
DISC1 transcript variant Lv	NM_001012957.1:c.1982-69400=	NM_001012957.1:c.1982-69400A>C	NM_001012957.1:c.1982-69400A>G	NM_001012957.1:c.1982-69400A>T
DISC1 transcript variant Lv	NM_001012957.2:c.1982-69400=	NM_001012957.2:c.1982-69400A>C	NM_001012957.2:c.1982-69400A>G	NM_001012957.2:c.1982-69400A>T
DISC1 transcript variant a	NM_001164537.1:c.2078-69400=	NM_001164537.1:c.2078-69400A>C	NM_001164537.1:c.2078-69400A>G	NM_001164537.1:c.2078-69400A>T
DISC1 transcript variant a	NM_001164537.2:c.2078-69400=	NM_001164537.2:c.2078-69400A>C	NM_001164537.2:c.2078-69400A>G	NM_001164537.2:c.2078-69400A>T
DISC1 transcript variant b	NM_001164538.1:c.1982-69400=	NM_001164538.1:c.1982-69400A>C	NM_001164538.1:c.1982-69400A>G	NM_001164538.1:c.1982-69400A>T
DISC1 transcript variant b	NM_001164538.2:c.1982-69400=	NM_001164538.2:c.1982-69400A>C	NM_001164538.2:c.1982-69400A>G	NM_001164538.2:c.1982-69400A>T
DISC1 transcript variant d	NM_001164540.1:c.1616-69400=	NM_001164540.1:c.1616-69400A>C	NM_001164540.1:c.1616-69400A>G	NM_001164540.1:c.1616-69400A>T
DISC1 transcript variant d	NM_001164540.2:c.1616-69400=	NM_001164540.2:c.1616-69400A>C	NM_001164540.2:c.1616-69400A>G	NM_001164540.2:c.1616-69400A>T
DISC1 transcript variant e	NM_001164541.1:c.1981+70911=	NM_001164541.1:c.1981+70911A>C	NM_001164541.1:c.1981+70911A>G	NM_001164541.1:c.1981+70911A>T
DISC1 transcript variant e	NM_001164541.2:c.1981+70911=	NM_001164541.2:c.1981+70911A>C	NM_001164541.2:c.1981+70911A>G	NM_001164541.2:c.1981+70911A>T
DISC1 transcript variant f	NM_001164542.1:c.1982-69400=	NM_001164542.1:c.1982-69400A>C	NM_001164542.1:c.1982-69400A>G	NM_001164542.1:c.1982-69400A>T
DISC1 transcript variant f	NM_001164542.2:c.1982-69400=	NM_001164542.2:c.1982-69400A>C	NM_001164542.2:c.1982-69400A>G	NM_001164542.2:c.1982-69400A>T
DISC1 transcript variant i	NM_001164546.1:c.1635-69400=	NM_001164546.1:c.1635-69400A>C	NM_001164546.1:c.1635-69400A>G	NM_001164546.1:c.1635-69400A>T
DISC1 transcript variant i	NM_001164546.2:c.1635-69400=	NM_001164546.2:c.1635-69400A>C	NM_001164546.2:c.1635-69400A>G	NM_001164546.2:c.1635-69400A>T
DISC1 transcript variant j	NM_001164547.1:c.1635-69400=	NM_001164547.1:c.1635-69400A>C	NM_001164547.1:c.1635-69400A>G	NM_001164547.1:c.1635-69400A>T
DISC1 transcript variant j	NM_001164547.2:c.1635-69400=	NM_001164547.2:c.1635-69400A>C	NM_001164547.2:c.1635-69400A>G	NM_001164547.2:c.1635-69400A>T
DISC1 transcript variant L	NM_018662.2:c.1982-69400=	NM_018662.2:c.1982-69400A>C	NM_018662.2:c.1982-69400A>G	NM_018662.2:c.1982-69400A>T
DISC1 transcript variant L	NM_018662.3:c.1982-69400=	NM_018662.3:c.1982-69400A>C	NM_018662.3:c.1982-69400A>G	NM_018662.3:c.1982-69400A>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#.

131 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss5758847	Feb 20, 2003 (126)
2	CSHL-HAPMAP	ss17350984	Feb 27, 2004 (126)
3	PERLEGEN	ss24303352	Sep 20, 2004 (126)
4	ABI	ss44018317	Mar 10, 2006 (126)
5	AFFY	ss65924138	Nov 30, 2006 (127)
6	AFFY	ss66508122	Nov 30, 2006 (127)
7	ILLUMINA	ss66618227	Nov 30, 2006 (127)
8	ILLUMINA	ss67327751	Nov 30, 2006 (127)
9	ILLUMINA	ss67728958	Nov 30, 2006 (127)
10	PERLEGEN	ss68796254	May 17, 2007 (127)
11	ILLUMINA	ss71639688	May 17, 2007 (127)
12	ILLUMINA	ss75442525	Dec 06, 2007 (129)
13	AFFY	ss76331025	Dec 06, 2007 (129)
14	ILLUMINA	ss79310512	Dec 16, 2007 (130)
15	KRIBB_YJKIM	ss83677201	Dec 16, 2007 (130)
16	ILLUMINA	ss98311573	May 26, 2008 (130)
17	ILLUMINA	ss123076384	Dec 01, 2009 (131)
18	ILLUMINA	ss152798744	Dec 01, 2009 (131)
19	ILLUMINA	ss159137749	Dec 01, 2009 (131)
20	ILLUMINA	ss159912294	Dec 01, 2009 (131)
21	ENSEMBL	ss161228351	Dec 01, 2009 (131)
22	COMPLETE_GENOMICS	ss165892607	Jul 04, 2010 (132)
23	ILLUMINA	ss169578039	Jul 04, 2010 (132)
24	ILLUMINA	ss170411164	Jul 04, 2010 (132)
25	AFFY	ss173285402	Jul 04, 2010 (132)
26	BUSHMAN	ss199741178	Jul 04, 2010 (132)
27	BCM-HGSC-SUB	ss205179664	Jul 04, 2010 (132)
28	1000GENOMES	ss210763814	Jul 14, 2010 (132)
29	1000GENOMES	ss218938334	Jul 14, 2010 (132)
30	1000GENOMES	ss230944329	Jul 14, 2010 (132)
31	1000GENOMES	ss238550330	Jul 15, 2010 (132)
32	BL	ss253888612	May 09, 2011 (134)
33	GMI	ss284246607	Apr 25, 2013 (138)
34	GMI	ss475602339	May 04, 2012 (137)
35	ILLUMINA	ss479323356	May 04, 2012 (137)
36	ILLUMINA	ss479326532	May 04, 2012 (137)
37	ILLUMINA	ss479715073	Sep 08, 2015 (146)
38	ILLUMINA	ss484461961	May 04, 2012 (137)
39	ILLUMINA	ss536625829	Sep 08, 2015 (146)
40	TISHKOFF	ss555205909	Apr 25, 2013 (138)
41	SSMP	ss648778670	Apr 25, 2013 (138)
42	ILLUMINA	ss778362006	Sep 08, 2015 (146)
43	ILLUMINA	ss782677538	Sep 08, 2015 (146)
44	ILLUMINA	ss783646108	Sep 08, 2015 (146)
45	ILLUMINA	ss825641030	Jul 19, 2016 (147)
46	ILLUMINA	ss831928286	Sep 08, 2015 (146)
47	ILLUMINA	ss832650409	Jul 12, 2019 (153)
48	ILLUMINA	ss833816791	Sep 08, 2015 (146)
49	EVA-GONL	ss976255368	Aug 21, 2014 (142)
50	JMKIDD_LAB	ss1068685295	Aug 21, 2014 (142)
51	1000GENOMES	ss1295068561	Aug 21, 2014 (142)
52	DDI	ss1426143447	Apr 01, 2015 (144)
53	EVA_GENOME_DK	ss1574748429	Apr 01, 2015 (144)
54	EVA_DECODE	ss1585655087	Apr 01, 2015 (144)
55	EVA_UK10K_ALSPAC	ss1602362714	Apr 01, 2015 (144)
56	EVA_UK10K_TWINSUK	ss1645356747	Apr 01, 2015 (144)
57	EVA_SVP	ss1712413593	Apr 01, 2015 (144)
58	ILLUMINA	ss1751904959	Sep 08, 2015 (146)
59	HAMMER_LAB	ss1795876913	Sep 08, 2015 (146)
60	WEILL_CORNELL_DGM	ss1919476613	Feb 12, 2016 (147)
61	ILLUMINA	ss1946026617	Feb 12, 2016 (147)
62	ILLUMINA	ss1958367028	Feb 12, 2016 (147)
63	GENOMED	ss1966998868	Jul 19, 2016 (147)
64	JJLAB	ss2020263548	Sep 14, 2016 (149)
65	USC_VALOUEV	ss2148299663	Dec 20, 2016 (150)
66	HUMAN_LONGEVITY	ss2170949423	Dec 20, 2016 (150)
67	ILLUMINA	ss2632642903	Nov 08, 2017 (151)
68	GRF	ss2698300011	Nov 08, 2017 (151)
69	ILLUMINA	ss2710696995	Nov 08, 2017 (151)
70	GNOMAD	ss2767404012	Nov 08, 2017 (151)
71	AFFY	ss2984897620	Nov 08, 2017 (151)
72	AFFY	ss2985541290	Nov 08, 2017 (151)
73	SWEGEN	ss2988622619	Nov 08, 2017 (151)
74	ILLUMINA	ss3021191082	Nov 08, 2017 (151)
75	BIOINF_KMB_FNS_UNIBA	ss3023892692	Nov 08, 2017 (151)
76	CSHL	ss3343960811	Nov 08, 2017 (151)
77	ILLUMINA	ss3625568767	Oct 11, 2018 (152)
78	ILLUMINA	ss3626332896	Oct 11, 2018 (152)
79	ILLUMINA	ss3630672037	Oct 11, 2018 (152)
80	ILLUMINA	ss3632929415	Oct 11, 2018 (152)
81	ILLUMINA	ss3633625667	Oct 11, 2018 (152)
82	ILLUMINA	ss3634378561	Oct 11, 2018 (152)
83	ILLUMINA	ss3635318671	Oct 11, 2018 (152)
84	ILLUMINA	ss3636057507	Oct 11, 2018 (152)
85	ILLUMINA	ss3637069225	Oct 11, 2018 (152)
86	ILLUMINA	ss3637820310	Oct 11, 2018 (152)
87	ILLUMINA	ss3638925153	Oct 11, 2018 (152)
88	ILLUMINA	ss3639461592	Oct 11, 2018 (152)
89	ILLUMINA	ss3640085914	Oct 11, 2018 (152)
90	ILLUMINA	ss3642826223	Oct 11, 2018 (152)
91	ILLUMINA	ss3644522620	Oct 11, 2018 (152)
92	ILLUMINA	ss3651536767	Oct 11, 2018 (152)
93	ILLUMINA	ss3653667780	Oct 11, 2018 (152)
94	EGCUT_WGS	ss3656581569	Jul 12, 2019 (153)
95	EVA_DECODE	ss3688835674	Jul 12, 2019 (153)
96	ILLUMINA	ss3725115313	Jul 12, 2019 (153)
97	ACPOP	ss3727953434	Jul 12, 2019 (153)
98	ILLUMINA	ss3744062371	Jul 12, 2019 (153)
99	ILLUMINA	ss3744679403	Jul 12, 2019 (153)
100	EVA	ss3747468165	Jul 12, 2019 (153)
101	PAGE_CC	ss3770879526	Jul 12, 2019 (153)
102	ILLUMINA	ss3772180268	Jul 12, 2019 (153)
103	PACBIO	ss3783715749	Jul 12, 2019 (153)
104	PACBIO	ss3789323341	Jul 12, 2019 (153)
105	PACBIO	ss3794195755	Jul 12, 2019 (153)
106	KHV_HUMAN_GENOMES	ss3800470039	Jul 12, 2019 (153)
107	EVA	ss3826698288	Apr 25, 2020 (154)
108	HGDP	ss3847366847	Apr 25, 2020 (154)
109	SGDP_PRJ	ss3851115795	Apr 25, 2020 (154)
110	KRGDB	ss3896464053	Apr 25, 2020 (154)
111	EVA	ss3984473798	Apr 27, 2021 (155)
112	EVA	ss3984858726	Apr 27, 2021 (155)
113	TOPMED	ss4487244507	Apr 27, 2021 (155)
114	TOMMO_GENOMICS	ss5148913106	Apr 27, 2021 (155)
115	1000G_HIGH_COVERAGE	ss5246161160	Oct 13, 2022 (156)
116	EVA	ss5314690677	Oct 13, 2022 (156)
117	EVA	ss5325458197	Oct 13, 2022 (156)
118	HUGCELL_USP	ss5446560733	Oct 13, 2022 (156)
119	EVA	ss5506227042	Oct 13, 2022 (156)
120	1000G_HIGH_COVERAGE	ss5520441958	Oct 13, 2022 (156)
121	SANFORD_IMAGENETICS	ss5624232821	Oct 13, 2022 (156)
122	SANFORD_IMAGENETICS	ss5627654257	Oct 13, 2022 (156)
123	TOMMO_GENOMICS	ss5676813251	Oct 13, 2022 (156)
124	EVA	ss5799514971	Oct 13, 2022 (156)
125	YY_MCH	ss5801732357	Oct 13, 2022 (156)
126	EVA	ss5833410128	Oct 13, 2022 (156)
127	EVA	ss5847176510	Oct 13, 2022 (156)
128	EVA	ss5847578222	Oct 13, 2022 (156)
129	EVA	ss5912395009	Oct 13, 2022 (156)
130	EVA	ss5939502616	Oct 13, 2022 (156)
131	EVA	ss5979308495	Oct 13, 2022 (156)
132	1000Genomes	NC_000001.10 - 232025174	Oct 11, 2018 (152)
133	1000Genomes_30x	NC_000001.11 - 231889428	Oct 13, 2022 (156)
134	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 232025174	Oct 11, 2018 (152)
135	Chileans	NC_000001.10 - 232025174	Apr 25, 2020 (154)
136	Genetic variation in the Estonian population	NC_000001.10 - 232025174	Oct 11, 2018 (152)
137	The Danish reference pan genome	NC_000001.10 - 232025174	Apr 25, 2020 (154)
138	gnomAD - Genomes	NC_000001.11 - 231889428	Apr 27, 2021 (155)
139	Genome of the Netherlands Release 5	NC_000001.10 - 232025174	Apr 25, 2020 (154)
140	HGDP-CEPH-db Supplement 1	NC_000001.9 - 230091797	Apr 25, 2020 (154)
141	KOREAN population from KRGDB	NC_000001.10 - 232025174	Apr 25, 2020 (154)
142	Northern Sweden	NC_000001.10 - 232025174	Jul 12, 2019 (153)
143	The PAGE Study	NC_000001.11 - 231889428	Jul 12, 2019 (153)
144	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000001.10 - 232025174	Apr 27, 2021 (155)
145	CNV burdens in cranial meningiomas	NC_000001.10 - 232025174	Apr 27, 2021 (155)
146	Qatari	NC_000001.10 - 232025174	Apr 25, 2020 (154)
147	SGDP_PRJ	NC_000001.10 - 232025174	Apr 25, 2020 (154)
148	Siberian	NC_000001.10 - 232025174	Apr 25, 2020 (154)
149	8.3KJPN	NC_000001.10 - 232025174	Apr 27, 2021 (155)
150	14KJPN	NC_000001.11 - 231889428	Oct 13, 2022 (156)
151	TopMed	NC_000001.11 - 231889428	Apr 27, 2021 (155)
152	UK 10K study - Twins	NC_000001.10 - 232025174	Oct 11, 2018 (152)
153	A Vietnamese Genetic Variation Database	NC_000001.10 - 232025174	Jul 12, 2019 (153)
154	ALFA	NC_000001.11 - 231889428	Apr 27, 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).

Associated ID	History Updated (Build)
rs4333837	Mar 10, 2006 (126)
rs17821170	Oct 07, 2004 (123)
rs61474799	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
1297195066	NC_000001.11:231889427:A:C	NC_000001.11:231889427:A:C	(self)
ss3638925153, ss3639461592	NC_000001.8:228331908:A:G	NC_000001.11:231889427:A:G	(self)
44739, ss165892607, ss199741178, ss205179664, ss210763814, ss253888612, ss284246607, ss475602339, ss479323356, ss825641030, ss1585655087, ss1712413593, ss3642826223, ss3847366847	NC_000001.9:230091796:A:G	NC_000001.11:231889427:A:G	(self)
5938268, 3283856, 35846, 2319817, 1928762, 1435485, 3641447, 1238299, 84653, 23120, 1518543, 3132775, 816017, 6882413, 3283856, 714229, ss218938334, ss230944329, ss238550330, ss479326532, ss479715073, ss484461961, ss536625829, ss555205909, ss648778670, ss778362006, ss782677538, ss783646108, ss831928286, ss832650409, ss833816791, ss976255368, ss1068685295, ss1295068561, ss1426143447, ss1574748429, ss1602362714, ss1645356747, ss1751904959, ss1795876913, ss1919476613, ss1946026617, ss1958367028, ss1966998868, ss2020263548, ss2148299663, ss2632642903, ss2698300011, ss2710696995, ss2767404012, ss2984897620, ss2985541290, ss2988622619, ss3021191082, ss3343960811, ss3625568767, ss3626332896, ss3630672037, ss3632929415, ss3633625667, ss3634378561, ss3635318671, ss3636057507, ss3637069225, ss3637820310, ss3640085914, ss3644522620, ss3651536767, ss3653667780, ss3656581569, ss3727953434, ss3744062371, ss3744679403, ss3747468165, ss3772180268, ss3783715749, ss3789323341, ss3794195755, ss3826698288, ss3851115795, ss3896464053, ss3984473798, ss3984858726, ss5148913106, ss5314690677, ss5325458197, ss5506227042, ss5624232821, ss5627654257, ss5799514971, ss5833410128, ss5847176510, ss5847578222, ss5939502616, ss5979308495	NC_000001.10:232025173:A:G	NC_000001.11:231889427:A:G	(self)
7967893, 42597726, 100995, 10650355, 50850842, 1297195066, ss2170949423, ss3023892692, ss3688835674, ss3725115313, ss3770879526, ss3800470039, ss4487244507, ss5246161160, ss5446560733, ss5520441958, ss5676813251, ss5801732357, ss5912395009	NC_000001.11:231889427:A:G	NC_000001.11:231889427:A:G	(self)
ss17350984	NT_021973.16:1956162:A:G	NC_000001.11:231889427:A:G	(self)
ss5758847, ss24303352, ss44018317, ss65924138, ss66508122, ss66618227, ss67327751, ss67728958, ss68796254, ss71639688, ss75442525, ss76331025, ss79310512, ss83677201, ss98311573, ss123076384, ss152798744, ss159137749, ss159912294, ss161228351, ss169578039, ss170411164, ss173285402	NT_167186.1:25542952:A:G	NC_000001.11:231889427:A:G	(self)
1297195066	NC_000001.11:231889427:A:T	NC_000001.11:231889427:A:T	(self)

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

3 citations for rs1073179

PMID	Title	Author	Year	Journal
17160898	Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1.	Naveed M et al.	2007	American journal of human genetics
19414483	The DISC locus and schizophrenia: evidence from an association study in a central European sample and from a meta-analysis across different European populations.	Schumacher J et al.	2009	Human molecular genetics
22059935	A pilot genome wide association and gene expression array study of suicide with and without major depression.	Galfalvy H et al.	2013	The world journal of biological psychiatry

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

rs1073179