Name: rs137978085
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.

rs137978085

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:9941178-9941192 (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: del(GTTC)₂ / delGTTC / dupGTTC
Variation Type: Indel Insertion and Deletion
Frequency: dupGTTC=0.000072 (19/264690, TOPMED)
(TTCG)₃TTC=0.33815 (9554/28254, 14KJPN)
(TTCG)₃TTC=0.33019 (5534/16760, 8.3KJPN) (+ 8 more)
delGTTC=0.3756 (3299/8784, ALFA)
(TTCG)₃TTC=0.4939 (3163/6404, 1000G_30x)
(TTCG)₃TTC=0.4898 (2453/5008, 1000G)
del(GTTC)₂=0.0003 (1/3854, ALSPAC)
(TTCG)₃TTC=0.3695 (677/1832, Korea1K)
(TTCG)₃TTC=0.199 (199/998, GoNL)
(TTCG)₃TTC=0.265 (159/600, NorthernSweden)
(TTCG)₃TTC=0.33 (13/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: LZIC : Intron Variant
NMNAT1 : 2KB Upstream Variant
Publications: 0 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	8784	TTCGTTCGTTCGTTC=0.6244	TTCGTTCGTTC=0.3756, TTCGTTCGTTCGTTCGTTC=0.0000
European	Sub	6880	TTCGTTCGTTCGTTC=0.5212	TTCGTTCGTTC=0.4788, TTCGTTCGTTCGTTCGTTC=0.0000
African	Sub	1658	TTCGTTCGTTCGTTC=1.0000	TTCGTTCGTTC=0.0000, TTCGTTCGTTCGTTCGTTC=0.0000
African Others	Sub	96	TTCGTTCGTTCGTTC=1.00	TTCGTTCGTTC=0.00, TTCGTTCGTTCGTTCGTTC=0.00
African American	Sub	1562	TTCGTTCGTTCGTTC=1.0000	TTCGTTCGTTC=0.0000, TTCGTTCGTTCGTTCGTTC=0.0000
Asian	Sub	18	TTCGTTCGTTCGTTC=1.00	TTCGTTCGTTC=0.00, TTCGTTCGTTCGTTCGTTC=0.00
East Asian	Sub	10	TTCGTTCGTTCGTTC=1.0	TTCGTTCGTTC=0.0, TTCGTTCGTTCGTTCGTTC=0.0
Other Asian	Sub	8	TTCGTTCGTTCGTTC=1.0	TTCGTTCGTTC=0.0, TTCGTTCGTTCGTTCGTTC=0.0
Latin American 1	Sub	20	TTCGTTCGTTCGTTC=1.00	TTCGTTCGTTC=0.00, TTCGTTCGTTCGTTCGTTC=0.00
Latin American 2	Sub	74	TTCGTTCGTTCGTTC=1.00	TTCGTTCGTTC=0.00, TTCGTTCGTTCGTTCGTTC=0.00
South Asian	Sub	26	TTCGTTCGTTCGTTC=1.00	TTCGTTCGTTC=0.00, TTCGTTCGTTCGTTCGTTC=0.00
Other	Sub	108	TTCGTTCGTTCGTTC=0.954	TTCGTTCGTTC=0.046, TTCGTTCGTTCGTTCGTTC=0.000

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
TopMed	Global	Study-wide	264690	- No frequency provided	dupGTTC=0.000072
14KJPN	JAPANESE	Study-wide	28254	(TTCG)₃TTC=0.33815	delGTTC=0.66185
8.3KJPN	JAPANESE	Study-wide	16760	(TTCG)₃TTC=0.33019	delGTTC=0.66981
Allele Frequency Aggregator	Total	Global	8784	(TTCG)₃TTC=0.6244	delGTTC=0.3756, dupGTTC=0.0000
Allele Frequency Aggregator	European	Sub	6880	(TTCG)₃TTC=0.5212	delGTTC=0.4788, dupGTTC=0.0000
Allele Frequency Aggregator	African	Sub	1658	(TTCG)₃TTC=1.0000	delGTTC=0.0000, dupGTTC=0.0000
Allele Frequency Aggregator	Other	Sub	108	(TTCG)₃TTC=0.954	delGTTC=0.046, dupGTTC=0.000
Allele Frequency Aggregator	Latin American 2	Sub	74	(TTCG)₃TTC=1.00	delGTTC=0.00, dupGTTC=0.00
Allele Frequency Aggregator	South Asian	Sub	26	(TTCG)₃TTC=1.00	delGTTC=0.00, dupGTTC=0.00
Allele Frequency Aggregator	Latin American 1	Sub	20	(TTCG)₃TTC=1.00	delGTTC=0.00, dupGTTC=0.00
Allele Frequency Aggregator	Asian	Sub	18	(TTCG)₃TTC=1.00	delGTTC=0.00, dupGTTC=0.00
1000Genomes_30x	Global	Study-wide	6404	(TTCG)₃TTC=0.4939	delGTTC=0.5061
1000Genomes_30x	African	Sub	1786	(TTCG)₃TTC=0.8359	delGTTC=0.1641
1000Genomes_30x	Europe	Sub	1266	(TTCG)₃TTC=0.2283	delGTTC=0.7717
1000Genomes_30x	South Asian	Sub	1202	(TTCG)₃TTC=0.4975	delGTTC=0.5025
1000Genomes_30x	East Asian	Sub	1170	(TTCG)₃TTC=0.4000	delGTTC=0.6000
1000Genomes_30x	American	Sub	980	(TTCG)₃TTC=0.321	delGTTC=0.679
1000Genomes	Global	Study-wide	5008	(TTCG)₃TTC=0.4898	delGTTC=0.5102
1000Genomes	African	Sub	1322	(TTCG)₃TTC=0.8359	delGTTC=0.1641
1000Genomes	East Asian	Sub	1008	(TTCG)₃TTC=0.3899	delGTTC=0.6101
1000Genomes	Europe	Sub	1006	(TTCG)₃TTC=0.2406	delGTTC=0.7594
1000Genomes	South Asian	Sub	978	(TTCG)₃TTC=0.497	delGTTC=0.503
1000Genomes	American	Sub	694	(TTCG)₃TTC=0.327	delGTTC=0.673
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	(TTCG)₃TTC=0.9997	del(GTTC)₂=0.0003
Korean Genome Project	KOREAN	Study-wide	1832	(TTCG)₃TTC=0.3695	delGTTC=0.6305
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	(TTCG)₃TTC=0.199	delGTTC=0.801
Northern Sweden	ACPOP	Study-wide	600	(TTCG)₃TTC=0.265	delGTTC=0.735
The Danish reference pan genome	Danish	Study-wide	40	(TTCG)₃TTC=0.33	delGTTC=0.68

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.9941181GTTC[1]
GRCh38.p14 chr 1	NC_000001.11:g.9941181GTTC[2]
GRCh38.p14 chr 1	NC_000001.11:g.9941181GTTC[4]
GRCh37.p13 chr 1	NC_000001.10:g.10001239GTTC[1]
GRCh37.p13 chr 1	NC_000001.10:g.10001239GTTC[2]
GRCh37.p13 chr 1	NC_000001.10:g.10001239GTTC[4]
NMNAT1 RefSeqGene	NG_032954.1:g.2754GTTC[1]
NMNAT1 RefSeqGene	NG_032954.1:g.2754GTTC[2]
NMNAT1 RefSeqGene	NG_032954.1:g.2754GTTC[4]

Gene: LZIC, leucine zipper and CTNNBIP1 domain containing (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LZIC transcript variant 2	NM_001316973.2:c.-9+1439_… NM_001316973.2:c.-9+1439_-9+1446del	N/A	Intron Variant
LZIC transcript variant 3	NM_001316974.2:c.55+1496_… NM_001316974.2:c.55+1496_55+1503del	N/A	Intron Variant
LZIC transcript variant 4	NM_001316975.2:c.-9+1439_… NM_001316975.2:c.-9+1439_-9+1446del	N/A	Intron Variant
LZIC transcript variant 5	NM_001316976.2:c.-9+1439_… NM_001316976.2:c.-9+1439_-9+1446del	N/A	Intron Variant
LZIC transcript variant 1	NM_032368.5:c.-9+1439_-9+… NM_032368.5:c.-9+1439_-9+1446del	N/A	Intron Variant
LZIC transcript variant X1	XM_005263506.3:c.-9+1439_… XM_005263506.3:c.-9+1439_-9+1446del	N/A	Intron Variant
LZIC transcript variant X3	XM_017002546.2:c.-9+1439_… XM_017002546.2:c.-9+1439_-9+1446del	N/A	Intron Variant
LZIC transcript variant X2	XM_017002547.2:c.-9+1439_… XM_017002547.2:c.-9+1439_-9+1446del	N/A	Intron Variant

Gene: NMNAT1, nicotinamide nucleotide adenylyltransferase 1 (plus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
NMNAT1 transcript variant 2	NM_001297778.1:c.	N/A	Upstream Transcript Variant
NMNAT1 transcript variant 3	NM_001297779.2:c.	N/A	N/A
NMNAT1 transcript variant 1	NM_022787.4:c.	N/A	N/A
NMNAT1 transcript variant X3	XM_047428077.1:c.	N/A	Upstream Transcript Variant
NMNAT1 transcript variant X7	XM_011541971.2:c.	N/A	N/A
NMNAT1 transcript variant X2	XM_017002107.3:c.	N/A	N/A
NMNAT1 transcript variant X6	XM_017002108.3:c.	N/A	N/A
NMNAT1 transcript variant X1	XM_047428076.1:c.	N/A	N/A
NMNAT1 transcript variant X4	XM_047428080.1:c.	N/A	N/A
NMNAT1 transcript variant X5	XM_047428082.1:c.	N/A	N/A

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	(TTCG)₃TTC=	del(GTTC)₂	delGTTC	dupGTTC
GRCh38.p14 chr 1	NC_000001.11:g.9941178_9941192=	NC_000001.11:g.9941181GTTC[1]	NC_000001.11:g.9941181GTTC[2]	NC_000001.11:g.9941181GTTC[4]
GRCh37.p13 chr 1	NC_000001.10:g.10001236_10001250=	NC_000001.10:g.10001239GTTC[1]	NC_000001.10:g.10001239GTTC[2]	NC_000001.10:g.10001239GTTC[4]
NMNAT1 RefSeqGene	NG_032954.1:g.2751_2765=	NG_032954.1:g.2754GTTC[1]	NG_032954.1:g.2754GTTC[2]	NG_032954.1:g.2754GTTC[4]
LZIC transcript variant 2	NM_001316973.2:c.-9+1446=	NM_001316973.2:c.-9+1439_-9+1446del	NM_001316973.2:c.-9+1435CGAA[2]	NM_001316973.2:c.-9+1435CGAA[4]
LZIC transcript variant 3	NM_001316974.2:c.55+1503=	NM_001316974.2:c.55+1496_55+1503del	NM_001316974.2:c.55+1492CGAA[2]	NM_001316974.2:c.55+1492CGAA[4]
LZIC transcript variant 4	NM_001316975.2:c.-9+1446=	NM_001316975.2:c.-9+1439_-9+1446del	NM_001316975.2:c.-9+1435CGAA[2]	NM_001316975.2:c.-9+1435CGAA[4]
LZIC transcript variant 5	NM_001316976.2:c.-9+1446=	NM_001316976.2:c.-9+1439_-9+1446del	NM_001316976.2:c.-9+1435CGAA[2]	NM_001316976.2:c.-9+1435CGAA[4]
LZIC transcript	NM_032368.3:c.-9+1446=	NM_032368.3:c.-9+1439_-9+1446del	NM_032368.3:c.-9+1435CGAA[2]	NM_032368.3:c.-9+1435CGAA[4]
LZIC transcript variant 1	NM_032368.5:c.-9+1446=	NM_032368.5:c.-9+1439_-9+1446del	NM_032368.5:c.-9+1435CGAA[2]	NM_032368.5:c.-9+1435CGAA[4]
LZIC transcript variant X1	XM_005263504.1:c.55+1503=	XM_005263504.1:c.55+1496_55+1503del	XM_005263504.1:c.55+1492CGAA[2]	XM_005263504.1:c.55+1492CGAA[4]
LZIC transcript variant X2	XM_005263505.1:c.-9+1446=	XM_005263505.1:c.-9+1439_-9+1446del	XM_005263505.1:c.-9+1435CGAA[2]	XM_005263505.1:c.-9+1435CGAA[4]
LZIC transcript variant X1	XM_005263506.1:c.-9+1446=	XM_005263506.1:c.-9+1439_-9+1446del	XM_005263506.1:c.-9+1435CGAA[2]	XM_005263506.1:c.-9+1435CGAA[4]
LZIC transcript variant X1	XM_005263506.3:c.-9+1446=	XM_005263506.3:c.-9+1439_-9+1446del	XM_005263506.3:c.-9+1435CGAA[2]	XM_005263506.3:c.-9+1435CGAA[4]
LZIC transcript variant X4	XM_005263507.1:c.-9+1446=	XM_005263507.1:c.-9+1439_-9+1446del	XM_005263507.1:c.-9+1435CGAA[2]	XM_005263507.1:c.-9+1435CGAA[4]
LZIC transcript variant X5	XM_005263508.1:c.-9+1446=	XM_005263508.1:c.-9+1439_-9+1446del	XM_005263508.1:c.-9+1435CGAA[2]	XM_005263508.1:c.-9+1435CGAA[4]
LZIC transcript variant X5	XM_005263509.1:c.-9+1446=	XM_005263509.1:c.-9+1439_-9+1446del	XM_005263509.1:c.-9+1435CGAA[2]	XM_005263509.1:c.-9+1435CGAA[4]
LZIC transcript variant X7	XM_005263510.1:c.-9+1446=	XM_005263510.1:c.-9+1439_-9+1446del	XM_005263510.1:c.-9+1435CGAA[2]	XM_005263510.1:c.-9+1435CGAA[4]
LZIC transcript variant X3	XM_017002546.2:c.-9+1446=	XM_017002546.2:c.-9+1439_-9+1446del	XM_017002546.2:c.-9+1435CGAA[2]	XM_017002546.2:c.-9+1435CGAA[4]
LZIC transcript variant X2	XM_017002547.2:c.-9+1446=	XM_017002547.2:c.-9+1439_-9+1446del	XM_017002547.2:c.-9+1435CGAA[2]	XM_017002547.2:c.-9+1435CGAA[4]

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#.

64 SubSNP, 15 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss83670459	Aug 21, 2014 (142)
2	BCMHGSC_JDW	ss103476837	Mar 15, 2016 (147)
3	GMI	ss287947878	May 04, 2012 (137)
4	PJP	ss294565205	May 09, 2011 (135)
5	PJP	ss294565206	Aug 21, 2014 (142)
6	1000GENOMES	ss326004338	May 09, 2011 (134)
7	1000GENOMES	ss326004749	May 09, 2011 (134)
8	1000GENOMES	ss326006413	May 09, 2011 (134)
9	1000GENOMES	ss498779609	May 04, 2012 (137)
10	LUNTER	ss550903151	Apr 25, 2013 (138)
11	LUNTER	ss550907980	Apr 25, 2013 (138)
12	LUNTER	ss552744173	Apr 25, 2013 (138)
13	TISHKOFF	ss553711636	Apr 25, 2013 (138)
14	SSMP	ss663103043	Apr 01, 2015 (144)
15	BILGI_BIOE	ss666082230	Apr 25, 2013 (138)
16	EVA-GONL	ss974846426	Aug 21, 2014 (142)
17	1000GENOMES	ss1367657293	Aug 21, 2014 (142)
18	DDI	ss1536216554	Apr 01, 2015 (144)
19	EVA_GENOME_DK	ss1573882990	Apr 01, 2015 (144)
20	EVA_DECODE	ss1584204582	Apr 01, 2015 (144)
21	EVA_UK10K_ALSPAC	ss1700247361	Apr 01, 2015 (144)
22	EVA_UK10K_TWINSUK	ss1700247362	Apr 01, 2015 (144)
23	EVA_UK10K_TWINSUK	ss1709907144	Apr 01, 2015 (144)
24	EVA_UK10K_ALSPAC	ss1709910518	Apr 01, 2015 (144)
25	HAMMER_LAB	ss1793888965	Sep 08, 2015 (146)
26	JJLAB	ss2030301816	Sep 14, 2016 (149)
27	SYSTEMSBIOZJU	ss2624284900	Nov 08, 2017 (151)
28	GNOMAD	ss2751515958	Nov 08, 2017 (151)
29	SWEGEN	ss2986281099	Nov 08, 2017 (151)
30	MCHAISSO	ss3063576621	Nov 08, 2017 (151)
31	MCHAISSO	ss3064389349	Nov 08, 2017 (151)
32	BIOINF_KMB_FNS_UNIBA	ss3645026099	Oct 11, 2018 (152)
33	URBANLAB	ss3646597988	Oct 11, 2018 (152)
34	ILLUMINA	ss3653618298	Oct 11, 2018 (152)
35	EVA_DECODE	ss3686145272	Jul 12, 2019 (153)
36	ACPOP	ss3726782321	Jul 12, 2019 (153)
37	PACBIO	ss3783322390	Jul 12, 2019 (153)
38	PACBIO	ss3788997500	Jul 12, 2019 (153)
39	PACBIO	ss3793870245	Jul 12, 2019 (153)
40	KHV_HUMAN_GENOMES	ss3798838301	Jul 12, 2019 (153)
41	EVA	ss3826019289	Apr 25, 2020 (154)
42	EVA	ss3836396789	Apr 25, 2020 (154)
43	EVA	ss3841801277	Apr 25, 2020 (154)
44	KOGIC	ss3943802153	Apr 25, 2020 (154)
45	EVA	ss3986097790	Apr 25, 2021 (155)
46	GNOMAD	ss3988170340	Apr 25, 2021 (155)
47	TOPMED	ss4438911701	Apr 25, 2021 (155)
48	TOMMO_GENOMICS	ss5142430195	Apr 25, 2021 (155)
49	EVA	ss5236863935	Apr 25, 2021 (155)
50	EVA	ss5237159049	Apr 25, 2021 (155)
51	1000G_HIGH_COVERAGE	ss5241142835	Oct 12, 2022 (156)
52	HUGCELL_USP	ss5442349930	Oct 12, 2022 (156)
53	EVA	ss5505763892	Oct 12, 2022 (156)
54	1000G_HIGH_COVERAGE	ss5512886526	Oct 12, 2022 (156)
55	EVA	ss5623987111	Oct 12, 2022 (156)
56	SANFORD_IMAGENETICS	ss5624907175	Oct 12, 2022 (156)
57	TOMMO_GENOMICS	ss5666717542	Oct 12, 2022 (156)
58	YY_MCH	ss5800314894	Oct 12, 2022 (156)
59	EVA	ss5831527342	Oct 12, 2022 (156)
60	EVA	ss5848247209	Oct 12, 2022 (156)
61	EVA	ss5848780026	Oct 12, 2022 (156)
62	EVA	ss5907007503	Oct 12, 2022 (156)
63	EVA	ss5936733716	Oct 12, 2022 (156)
64	EVA	ss5979932585	Oct 12, 2022 (156)
65	1000Genomes	NC_000001.10 - 10001236	Oct 11, 2018 (152)
66	1000Genomes_30x	NC_000001.11 - 9941178	Oct 12, 2022 (156)
67	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 10001236	Oct 11, 2018 (152)
68	The Danish reference pan genome	NC_000001.10 - 10001236	Apr 25, 2020 (154)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 2231109 (NC_000001.11:9941177::TTCG 10/139358) Row 2231110 (NC_000001.11:9941177:TTCG: 85126/139252)	-	Apr 25, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 2231109 (NC_000001.11:9941177::TTCG 10/139358) Row 2231110 (NC_000001.11:9941177:TTCG: 85126/139252)	-	Apr 25, 2021 (155)
71	Genome of the Netherlands Release 5	NC_000001.10 - 10001236	Apr 25, 2020 (154)
72	Korean Genome Project	NC_000001.11 - 9941178	Apr 25, 2020 (154)
73	Northern Sweden	NC_000001.10 - 10001236	Jul 12, 2019 (153)
74	8.3KJPN	NC_000001.10 - 10001236	Apr 25, 2021 (155)
75	14KJPN	NC_000001.11 - 9941178	Oct 12, 2022 (156)
76	TopMed	NC_000001.11 - 9941178	Apr 25, 2021 (155)
77	UK 10K study - Twins Submission ignored due to conflicting rows: Row 165489 (NC_000001.10:10001239:TTCG: 2970/3708) Row 165490 (NC_000001.10:10001235:TTCGTTCG: 1/3708)	-	Apr 25, 2020 (154)
78	UK 10K study - Twins	-	Oct 11, 2018 (152)
79	ALFA	NC_000001.11 - 9941178	Apr 25, 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)
rs143206741	Sep 17, 2011 (135)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
165490, ss1700247361, ss1700247362	NC_000001.10:10001235:TTCGTTCG:	NC_000001.11:9941177:TTCGTTCGTTCGT… NC_000001.11:9941177:TTCGTTCGTTCGTTC:TTCGTTC	(self)
ss83670459	NC_000001.8:9935512:GTTC:	NC_000001.11:9941177:TTCGTTCGTTCGT… NC_000001.11:9941177:TTCGTTCGTTCGTTC:TTCGTTCGTTC	(self)
ss287947878, ss294565205, ss326004338, ss326004749, ss326006413, ss550903151, ss550907980, ss552744173, ss1584204582	NC_000001.9:9923822:TTCG:	NC_000001.11:9941177:TTCGTTCGTTCGT… NC_000001.11:9941177:TTCGTTCGTTCGTTC:TTCGTTCGTTC	(self)
ss294565206	NC_000001.9:9923833:GTTC:	NC_000001.11:9941177:TTCGTTCGTTCGT… NC_000001.11:9941177:TTCGTTCGTTCGTTC:TTCGTTCGTTC	(self)
320820, 123748, 71014, 67186, 399502, ss498779609, ss663103043, ss666082230, ss974846426, ss1367657293, ss1536216554, ss1573882990, ss1793888965, ss2030301816, ss2624284900, ss2751515958, ss2986281099, ss3653618298, ss3726782321, ss3783322390, ss3788997500, ss3793870245, ss3826019289, ss3836396789, ss3986097790, ss5142430195, ss5623987111, ss5624907175, ss5831527342, ss5936733716, ss5979932585	NC_000001.10:10001235:TTCG:	NC_000001.11:9941177:TTCGTTCGTTCGT… NC_000001.11:9941177:TTCGTTCGTTCGTTC:TTCGTTCGTTC	(self)
ss1709907144, ss1709910518	NC_000001.10:10001239:TTCG:	NC_000001.11:9941177:TTCGTTCGTTCGT… NC_000001.11:9941177:TTCGTTCGTTCGTTC:TTCGTTCGTTC	(self)
ss553711636, ss5848247209	NC_000001.10:10001246:GTTC:	NC_000001.11:9941177:TTCGTTCGTTCGT… NC_000001.11:9941177:TTCGTTCGTTCGTTC:TTCGTTCGTTC	(self)
412461, 180154, 554646, ss3063576621, ss3064389349, ss3645026099, ss3646597988, ss3686145272, ss3798838301, ss3841801277, ss3943802153, ss5236863935, ss5237159049, ss5241142835, ss5442349930, ss5512886526, ss5666717542, ss5800314894, ss5848780026, ss5907007503	NC_000001.11:9941177:TTCG:	NC_000001.11:9941177:TTCGTTCGTTCGT… NC_000001.11:9941177:TTCGTTCGTTCGTTC:TTCGTTCGTTC	(self)
4660894974	NC_000001.11:9941177:TTCGTTCGTTCGT… NC_000001.11:9941177:TTCGTTCGTTCGTTC:TTCGTTCGTTC	NC_000001.11:9941177:TTCGTTCGTTCGT… NC_000001.11:9941177:TTCGTTCGTTCGTTC:TTCGTTCGTTC	(self)
ss103476837	NT_021937.19:6005978:GTTC:	NC_000001.11:9941177:TTCGTTCGTTCGT… NC_000001.11:9941177:TTCGTTCGTTCGTTC:TTCGTTCGTTC	(self)
ss5505763892	NC_000001.10:10001235::TTCG	NC_000001.11:9941177:TTCGTTCGTTCGT… NC_000001.11:9941177:TTCGTTCGTTCGTTC:TTCGTTCGTTCGTTCGTTC
2518036, ss3988170340, ss4438911701	NC_000001.11:9941177::TTCG	NC_000001.11:9941177:TTCGTTCGTTCGT… NC_000001.11:9941177:TTCGTTCGTTCGTTC:TTCGTTCGTTCGTTCGTTC	(self)
4660894974	NC_000001.11:9941177:TTCGTTCGTTCGT… NC_000001.11:9941177:TTCGTTCGTTCGTTC:TTCGTTCGTTCGTTCGTTC	NC_000001.11:9941177:TTCGTTCGTTCGT… NC_000001.11:9941177:TTCGTTCGTTCGTTC:TTCGTTCGTTCGTTCGTTC	(self)

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

No publications for rs137978085

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

rs137978085