Name: rs3071074
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.

rs3071074

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr8:78759217-78759228 (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: delTT / delT / dupT / dupTT / dupT…
delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅
Variation Type: Indel Insertion and Deletion
Frequency: dupTT=0.02689 (287/10672, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: IL7 : Intron 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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	10672	TTTTTTTTTTTT=0.94284	TTTTTTTTTT=0.00000, TTTTTTTTTTT=0.00928, TTTTTTTTTTTTT=0.00141, TTTTTTTTTTTTTT=0.02689, TTTTTTTTTTTTTTT=0.01930, TTTTTTTTTTTTTTTT=0.00028, TTTTTTTTTTTTTTTTT=0.00000	0.953169	0.003189	0.043643	29
European	Sub	8988	TTTTTTTTTTTT=0.9322	TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0109, TTTTTTTTTTTTT=0.0017, TTTTTTTTTTTTTT=0.0319, TTTTTTTTTTTTTTT=0.0229, TTTTTTTTTTTTTTTT=0.0003, TTTTTTTTTTTTTTTTT=0.0000	0.94374	0.003831	0.05243	23
African	Sub	904	TTTTTTTTTTTT=1.000	TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	38	TTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	866	TTTTTTTTTTTT=1.000	TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	32	TTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	28	TTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	4	TTTTTTTTTTTT=1.0	TTTTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	82	TTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	346	TTTTTTTTTTTT=1.000	TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	78	TTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	242	TTTTTTTTTTTT=0.996	TTTTTTTTTT=0.000, TTTTTTTTTTT=0.004, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A

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
Allele Frequency Aggregator	Total	Global	10672	(T)₁₂=0.94284	delTT=0.00000, delT=0.00928, dupT=0.00141, dupTT=0.02689, dupTTT=0.01930, dup(T)₄=0.00028, dup(T)₅=0.00000
Allele Frequency Aggregator	European	Sub	8988	(T)₁₂=0.9322	delTT=0.0000, delT=0.0109, dupT=0.0017, dupTT=0.0319, dupTTT=0.0229, dup(T)₄=0.0003, dup(T)₅=0.0000
Allele Frequency Aggregator	African	Sub	904	(T)₁₂=1.000	delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000
Allele Frequency Aggregator	Latin American 2	Sub	346	(T)₁₂=1.000	delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000
Allele Frequency Aggregator	Other	Sub	242	(T)₁₂=0.996	delTT=0.000, delT=0.004, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000
Allele Frequency Aggregator	Latin American 1	Sub	82	(T)₁₂=1.00	delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00
Allele Frequency Aggregator	South Asian	Sub	78	(T)₁₂=1.00	delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00
Allele Frequency Aggregator	Asian	Sub	32	(T)₁₂=1.00	delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00

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 8	NC_000008.11:g.78759227_78759228del
GRCh38.p14 chr 8	NC_000008.11:g.78759228del
GRCh38.p14 chr 8	NC_000008.11:g.78759228dup
GRCh38.p14 chr 8	NC_000008.11:g.78759227_78759228dup
GRCh38.p14 chr 8	NC_000008.11:g.78759226_78759228dup
GRCh38.p14 chr 8	NC_000008.11:g.78759225_78759228dup
GRCh38.p14 chr 8	NC_000008.11:g.78759224_78759228dup
GRCh37.p13 chr 8	NC_000008.10:g.79671462_79671463del
GRCh37.p13 chr 8	NC_000008.10:g.79671463del
GRCh37.p13 chr 8	NC_000008.10:g.79671463dup
GRCh37.p13 chr 8	NC_000008.10:g.79671462_79671463dup
GRCh37.p13 chr 8	NC_000008.10:g.79671461_79671463dup
GRCh37.p13 chr 8	NC_000008.10:g.79671460_79671463dup
GRCh37.p13 chr 8	NC_000008.10:g.79671459_79671463dup

Gene: IL7, interleukin 7 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
IL7 transcript variant 1	NM_000880.4:c.148-19136_1… NM_000880.4:c.148-19136_148-19135del	N/A	Intron Variant
IL7 transcript variant 2	NM_001199886.2:c.148-1913… NM_001199886.2:c.148-19136_148-19135del	N/A	Intron Variant
IL7 transcript variant 3	NM_001199887.2:c.148-1913… NM_001199887.2:c.148-19136_148-19135del	N/A	Intron Variant
IL7 transcript variant 4	NM_001199888.2:c.148-1913… NM_001199888.2:c.148-19136_148-19135del	N/A	Intron Variant
IL7 transcript variant X1	XM_011517522.4:c.148-1913… XM_011517522.4:c.148-19136_148-19135del	N/A	Intron Variant
IL7 transcript variant X2	XM_011517523.4:c.148-1913… XM_011517523.4:c.148-19136_148-19135del	N/A	Intron Variant
IL7 transcript variant X3	XM_047421765.1:c.	N/A	Genic Upstream Transcript Variant
IL7 transcript variant X4	XM_047421766.1:c.	N/A	Genic Upstream Transcript Variant
IL7 transcript variant X5	XM_047421767.1:c.	N/A	Genic Upstream Transcript Variant
IL7 transcript variant X6	XM_047421768.1:c.	N/A	Genic Upstream 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	(T)₁₂=	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅
GRCh38.p14 chr 8	NC_000008.11:g.78759217_78759228=	NC_000008.11:g.78759227_78759228del	NC_000008.11:g.78759228del	NC_000008.11:g.78759228dup	NC_000008.11:g.78759227_78759228dup	NC_000008.11:g.78759226_78759228dup	NC_000008.11:g.78759225_78759228dup	NC_000008.11:g.78759224_78759228dup
GRCh37.p13 chr 8	NC_000008.10:g.79671452_79671463=	NC_000008.10:g.79671462_79671463del	NC_000008.10:g.79671463del	NC_000008.10:g.79671463dup	NC_000008.10:g.79671462_79671463dup	NC_000008.10:g.79671461_79671463dup	NC_000008.10:g.79671460_79671463dup	NC_000008.10:g.79671459_79671463dup
IL7 transcript variant 1	NM_000880.3:c.148-19135=	NM_000880.3:c.148-19136_148-19135del	NM_000880.3:c.148-19135del	NM_000880.3:c.148-19135dup	NM_000880.3:c.148-19136_148-19135dup	NM_000880.3:c.148-19137_148-19135dup	NM_000880.3:c.148-19138_148-19135dup	NM_000880.3:c.148-19139_148-19135dup
IL7 transcript variant 1	NM_000880.4:c.148-19135=	NM_000880.4:c.148-19136_148-19135del	NM_000880.4:c.148-19135del	NM_000880.4:c.148-19135dup	NM_000880.4:c.148-19136_148-19135dup	NM_000880.4:c.148-19137_148-19135dup	NM_000880.4:c.148-19138_148-19135dup	NM_000880.4:c.148-19139_148-19135dup
IL7 transcript variant 2	NM_001199886.1:c.148-19135=	NM_001199886.1:c.148-19136_148-19135del	NM_001199886.1:c.148-19135del	NM_001199886.1:c.148-19135dup	NM_001199886.1:c.148-19136_148-19135dup	NM_001199886.1:c.148-19137_148-19135dup	NM_001199886.1:c.148-19138_148-19135dup	NM_001199886.1:c.148-19139_148-19135dup
IL7 transcript variant 2	NM_001199886.2:c.148-19135=	NM_001199886.2:c.148-19136_148-19135del	NM_001199886.2:c.148-19135del	NM_001199886.2:c.148-19135dup	NM_001199886.2:c.148-19136_148-19135dup	NM_001199886.2:c.148-19137_148-19135dup	NM_001199886.2:c.148-19138_148-19135dup	NM_001199886.2:c.148-19139_148-19135dup
IL7 transcript variant 3	NM_001199887.1:c.148-19135=	NM_001199887.1:c.148-19136_148-19135del	NM_001199887.1:c.148-19135del	NM_001199887.1:c.148-19135dup	NM_001199887.1:c.148-19136_148-19135dup	NM_001199887.1:c.148-19137_148-19135dup	NM_001199887.1:c.148-19138_148-19135dup	NM_001199887.1:c.148-19139_148-19135dup
IL7 transcript variant 3	NM_001199887.2:c.148-19135=	NM_001199887.2:c.148-19136_148-19135del	NM_001199887.2:c.148-19135del	NM_001199887.2:c.148-19135dup	NM_001199887.2:c.148-19136_148-19135dup	NM_001199887.2:c.148-19137_148-19135dup	NM_001199887.2:c.148-19138_148-19135dup	NM_001199887.2:c.148-19139_148-19135dup
IL7 transcript variant 4	NM_001199888.1:c.148-19135=	NM_001199888.1:c.148-19136_148-19135del	NM_001199888.1:c.148-19135del	NM_001199888.1:c.148-19135dup	NM_001199888.1:c.148-19136_148-19135dup	NM_001199888.1:c.148-19137_148-19135dup	NM_001199888.1:c.148-19138_148-19135dup	NM_001199888.1:c.148-19139_148-19135dup
IL7 transcript variant 4	NM_001199888.2:c.148-19135=	NM_001199888.2:c.148-19136_148-19135del	NM_001199888.2:c.148-19135del	NM_001199888.2:c.148-19135dup	NM_001199888.2:c.148-19136_148-19135dup	NM_001199888.2:c.148-19137_148-19135dup	NM_001199888.2:c.148-19138_148-19135dup	NM_001199888.2:c.148-19139_148-19135dup
IL7 transcript variant X1	XM_011517522.4:c.148-19135=	XM_011517522.4:c.148-19136_148-19135del	XM_011517522.4:c.148-19135del	XM_011517522.4:c.148-19135dup	XM_011517522.4:c.148-19136_148-19135dup	XM_011517522.4:c.148-19137_148-19135dup	XM_011517522.4:c.148-19138_148-19135dup	XM_011517522.4:c.148-19139_148-19135dup
IL7 transcript variant X2	XM_011517523.4:c.148-19135=	XM_011517523.4:c.148-19136_148-19135del	XM_011517523.4:c.148-19135del	XM_011517523.4:c.148-19135dup	XM_011517523.4:c.148-19136_148-19135dup	XM_011517523.4:c.148-19137_148-19135dup	XM_011517523.4:c.148-19138_148-19135dup	XM_011517523.4:c.148-19139_148-19135dup

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#.

60 SubSNP, 28 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss4302455	Jan 05, 2002 (102)
2	HGSV	ss79942222	Dec 15, 2007 (137)
3	SSMP	ss663873063	Apr 01, 2015 (144)
4	DDI	ss1536591521	Apr 01, 2015 (144)
5	EVA_UK10K_ALSPAC	ss1706119263	Apr 01, 2015 (144)
6	EVA_UK10K_ALSPAC	ss1706119265	Apr 01, 2015 (144)
7	EVA_UK10K_TWINSUK	ss1706119295	Apr 01, 2015 (144)
8	EVA_UK10K_TWINSUK	ss1706119296	Apr 01, 2015 (144)
9	TMC_SNPDB	ss1997212607	Jul 19, 2016 (147)
10	SWEGEN	ss3003468478	Jan 10, 2018 (151)
11	BIOINF_KMB_FNS_UNIBA	ss3646104764	Oct 12, 2018 (152)
12	EVA_DECODE	ss3722363115	Jul 13, 2019 (153)
13	EVA_DECODE	ss3722363116	Jul 13, 2019 (153)
14	EVA_DECODE	ss3722363117	Jul 13, 2019 (153)
15	EVA_DECODE	ss3722363118	Jul 13, 2019 (153)
16	EVA_DECODE	ss3722363119	Jul 13, 2019 (153)
17	EVA_DECODE	ss3722363120	Jul 13, 2019 (153)
18	ACPOP	ss3735817794	Jul 13, 2019 (153)
19	ACPOP	ss3735817795	Jul 13, 2019 (153)
20	PACBIO	ss3786191907	Jul 13, 2019 (153)
21	PACBIO	ss3791439788	Jul 13, 2019 (153)
22	PACBIO	ss3791439789	Jul 13, 2019 (153)
23	PACBIO	ss3796321229	Jul 13, 2019 (153)
24	PACBIO	ss3796321230	Jul 13, 2019 (153)
25	EVA	ss3831249967	Apr 26, 2020 (154)
26	KOGIC	ss3964210727	Apr 26, 2020 (154)
27	KOGIC	ss3964210728	Apr 26, 2020 (154)
28	KOGIC	ss3964210729	Apr 26, 2020 (154)
29	KOGIC	ss3964210730	Apr 26, 2020 (154)
30	KOGIC	ss3964210731	Apr 26, 2020 (154)
31	GNOMAD	ss4187555302	Apr 26, 2021 (155)
32	GNOMAD	ss4187555303	Apr 26, 2021 (155)
33	GNOMAD	ss4187555304	Apr 26, 2021 (155)
34	GNOMAD	ss4187555305	Apr 26, 2021 (155)
35	GNOMAD	ss4187555307	Apr 26, 2021 (155)
36	GNOMAD	ss4187555308	Apr 26, 2021 (155)
37	TOMMO_GENOMICS	ss5189509616	Apr 26, 2021 (155)
38	TOMMO_GENOMICS	ss5189509617	Apr 26, 2021 (155)
39	TOMMO_GENOMICS	ss5189509618	Apr 26, 2021 (155)
40	TOMMO_GENOMICS	ss5189509619	Apr 26, 2021 (155)
41	TOMMO_GENOMICS	ss5189509620	Apr 26, 2021 (155)
42	1000G_HIGH_COVERAGE	ss5277773374	Oct 16, 2022 (156)
43	1000G_HIGH_COVERAGE	ss5277773375	Oct 16, 2022 (156)
44	1000G_HIGH_COVERAGE	ss5277773376	Oct 16, 2022 (156)
45	1000G_HIGH_COVERAGE	ss5277773377	Oct 16, 2022 (156)
46	1000G_HIGH_COVERAGE	ss5277773378	Oct 16, 2022 (156)
47	1000G_HIGH_COVERAGE	ss5277773379	Oct 16, 2022 (156)
48	HUGCELL_USP	ss5474273815	Oct 16, 2022 (156)
49	HUGCELL_USP	ss5474273816	Oct 16, 2022 (156)
50	HUGCELL_USP	ss5474273817	Oct 16, 2022 (156)
51	HUGCELL_USP	ss5474273818	Oct 16, 2022 (156)
52	HUGCELL_USP	ss5474273819	Oct 16, 2022 (156)
53	HUGCELL_USP	ss5474273820	Oct 16, 2022 (156)
54	TOMMO_GENOMICS	ss5731806384	Oct 16, 2022 (156)
55	TOMMO_GENOMICS	ss5731806385	Oct 16, 2022 (156)
56	TOMMO_GENOMICS	ss5731806386	Oct 16, 2022 (156)
57	TOMMO_GENOMICS	ss5731806387	Oct 16, 2022 (156)
58	TOMMO_GENOMICS	ss5731806388	Oct 16, 2022 (156)
59	EVA	ss5830777525	Oct 16, 2022 (156)
60	EVA	ss5830777526	Oct 16, 2022 (156)
61	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 23763773 (NC_000008.10:79671451::TT 238/3854) Row 23763774 (NC_000008.10:79671451::TTT 331/3854)	-	Oct 12, 2018 (152)
62	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 23763773 (NC_000008.10:79671451::TT 238/3854) Row 23763774 (NC_000008.10:79671451::TTT 331/3854)	-	Oct 12, 2018 (152)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 301317640 (NC_000008.11:78759216::T 2242/121308) Row 301317641 (NC_000008.11:78759216::TT 15884/121218) Row 301317642 (NC_000008.11:78759216::TTT 13896/121124)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 301317640 (NC_000008.11:78759216::T 2242/121308) Row 301317641 (NC_000008.11:78759216::TT 15884/121218) Row 301317642 (NC_000008.11:78759216::TTT 13896/121124)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 301317640 (NC_000008.11:78759216::T 2242/121308) Row 301317641 (NC_000008.11:78759216::TT 15884/121218) Row 301317642 (NC_000008.11:78759216::TTT 13896/121124)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 301317640 (NC_000008.11:78759216::T 2242/121308) Row 301317641 (NC_000008.11:78759216::TT 15884/121218) Row 301317642 (NC_000008.11:78759216::TTT 13896/121124)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 301317640 (NC_000008.11:78759216::T 2242/121308) Row 301317641 (NC_000008.11:78759216::TT 15884/121218) Row 301317642 (NC_000008.11:78759216::TTT 13896/121124)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 301317640 (NC_000008.11:78759216::T 2242/121308) Row 301317641 (NC_000008.11:78759216::TT 15884/121218) Row 301317642 (NC_000008.11:78759216::TTT 13896/121124)...	-	Apr 26, 2021 (155)
69	Korean Genome Project Submission ignored due to conflicting rows: Row 20588728 (NC_000008.11:78759217::TTT 353/1824) Row 20588729 (NC_000008.11:78759217::TTTT 123/1824) Row 20588730 (NC_000008.11:78759216:T: 50/1824)...	-	Apr 26, 2020 (154)
70	Korean Genome Project Submission ignored due to conflicting rows: Row 20588728 (NC_000008.11:78759217::TTT 353/1824) Row 20588729 (NC_000008.11:78759217::TTTT 123/1824) Row 20588730 (NC_000008.11:78759216:T: 50/1824)...	-	Apr 26, 2020 (154)
71	Korean Genome Project Submission ignored due to conflicting rows: Row 20588728 (NC_000008.11:78759217::TTT 353/1824) Row 20588729 (NC_000008.11:78759217::TTTT 123/1824) Row 20588730 (NC_000008.11:78759216:T: 50/1824)...	-	Apr 26, 2020 (154)
72	Korean Genome Project Submission ignored due to conflicting rows: Row 20588728 (NC_000008.11:78759217::TTT 353/1824) Row 20588729 (NC_000008.11:78759217::TTTT 123/1824) Row 20588730 (NC_000008.11:78759216:T: 50/1824)...	-	Apr 26, 2020 (154)
73	Korean Genome Project Submission ignored due to conflicting rows: Row 20588728 (NC_000008.11:78759217::TTT 353/1824) Row 20588729 (NC_000008.11:78759217::TTTT 123/1824) Row 20588730 (NC_000008.11:78759216:T: 50/1824)...	-	Apr 26, 2020 (154)
74	Northern Sweden Submission ignored due to conflicting rows: Row 9102659 (NC_000008.10:79671451::TTT 8/566) Row 9102660 (NC_000008.10:79671451::TT 12/566)	-	Jul 13, 2019 (153)
75	Northern Sweden Submission ignored due to conflicting rows: Row 9102659 (NC_000008.10:79671451::TTT 8/566) Row 9102660 (NC_000008.10:79671451::TT 12/566)	-	Jul 13, 2019 (153)
76	8.3KJPN Submission ignored due to conflicting rows: Row 47478923 (NC_000008.10:79671451::TTT 2962/16708) Row 47478924 (NC_000008.10:79671451::TTTT 897/16708) Row 47478925 (NC_000008.10:79671451:T: 57/16708)...	-	Apr 26, 2021 (155)
77	8.3KJPN Submission ignored due to conflicting rows: Row 47478923 (NC_000008.10:79671451::TTT 2962/16708) Row 47478924 (NC_000008.10:79671451::TTTT 897/16708) Row 47478925 (NC_000008.10:79671451:T: 57/16708)...	-	Apr 26, 2021 (155)
78	8.3KJPN Submission ignored due to conflicting rows: Row 47478923 (NC_000008.10:79671451::TTT 2962/16708) Row 47478924 (NC_000008.10:79671451::TTTT 897/16708) Row 47478925 (NC_000008.10:79671451:T: 57/16708)...	-	Apr 26, 2021 (155)
79	8.3KJPN Submission ignored due to conflicting rows: Row 47478923 (NC_000008.10:79671451::TTT 2962/16708) Row 47478924 (NC_000008.10:79671451::TTTT 897/16708) Row 47478925 (NC_000008.10:79671451:T: 57/16708)...	-	Apr 26, 2021 (155)
80	8.3KJPN Submission ignored due to conflicting rows: Row 47478923 (NC_000008.10:79671451::TTT 2962/16708) Row 47478924 (NC_000008.10:79671451::TTTT 897/16708) Row 47478925 (NC_000008.10:79671451:T: 57/16708)...	-	Apr 26, 2021 (155)
81	14KJPN Submission ignored due to conflicting rows: Row 65643488 (NC_000008.11:78759216::TTT 5112/28256) Row 65643489 (NC_000008.11:78759216:T: 112/28256) Row 65643490 (NC_000008.11:78759216::TTTT 1561/28256)...	-	Oct 16, 2022 (156)
82	14KJPN Submission ignored due to conflicting rows: Row 65643488 (NC_000008.11:78759216::TTT 5112/28256) Row 65643489 (NC_000008.11:78759216:T: 112/28256) Row 65643490 (NC_000008.11:78759216::TTTT 1561/28256)...	-	Oct 16, 2022 (156)
83	14KJPN Submission ignored due to conflicting rows: Row 65643488 (NC_000008.11:78759216::TTT 5112/28256) Row 65643489 (NC_000008.11:78759216:T: 112/28256) Row 65643490 (NC_000008.11:78759216::TTTT 1561/28256)...	-	Oct 16, 2022 (156)
84	14KJPN Submission ignored due to conflicting rows: Row 65643488 (NC_000008.11:78759216::TTT 5112/28256) Row 65643489 (NC_000008.11:78759216:T: 112/28256) Row 65643490 (NC_000008.11:78759216::TTTT 1561/28256)...	-	Oct 16, 2022 (156)
85	14KJPN Submission ignored due to conflicting rows: Row 65643488 (NC_000008.11:78759216::TTT 5112/28256) Row 65643489 (NC_000008.11:78759216:T: 112/28256) Row 65643490 (NC_000008.11:78759216::TTTT 1561/28256)...	-	Oct 16, 2022 (156)
86	UK 10K study - Twins Submission ignored due to conflicting rows: Row 23763773 (NC_000008.10:79671451::TT 225/3708) Row 23763774 (NC_000008.10:79671451::TTT 315/3708)	-	Oct 12, 2018 (152)
87	UK 10K study - Twins Submission ignored due to conflicting rows: Row 23763773 (NC_000008.10:79671451::TT 225/3708) Row 23763774 (NC_000008.10:79671451::TTT 315/3708)	-	Oct 12, 2018 (152)
88	ALFA	NC_000008.11 - 78759217	Apr 26, 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)
rs60673385	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3003468478	NC_000008.10:79671451:TT:	NC_000008.11:78759216:TTTTTTTTTTTT… NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTT	(self)
ss3722363115, ss4187555308, ss5277773379, ss5474273819	NC_000008.11:78759216:TT:	NC_000008.11:78759216:TTTTTTTTTTTT… NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTT	(self)
1461690343	NC_000008.11:78759216:TTTTTTTTTTTT… NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTT	NC_000008.11:78759216:TTTTTTTTTTTT… NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTT	(self)
ss5189509618	NC_000008.10:79671451:T:	NC_000008.11:78759216:TTTTTTTTTTTT… NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss3646104764, ss3964210729, ss4187555307, ss5277773377, ss5474273815, ss5731806385	NC_000008.11:78759216:T:	NC_000008.11:78759216:TTTTTTTTTTTT… NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTTT	(self)
1461690343	NC_000008.11:78759216:TTTTTTTTTTTT… NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTTT	NC_000008.11:78759216:TTTTTTTTTTTT… NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss3722363116	NC_000008.11:78759217:T:	NC_000008.11:78759216:TTTTTTTTTTTT… NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss5189509620	NC_000008.10:79671451::T	NC_000008.11:78759216:TTTTTTTTTTTT… NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4187555302, ss5277773378, ss5474273818, ss5731806388	NC_000008.11:78759216::T	NC_000008.11:78759216:TTTTTTTTTTTT… NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
1461690343	NC_000008.11:78759216:TTTTTTTTTTTT… NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000008.11:78759216:TTTTTTTTTTTT… NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3964210730	NC_000008.11:78759217::T	NC_000008.11:78759216:TTTTTTTTTTTT… NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3722363117	NC_000008.11:78759218::T	NC_000008.11:78759216:TTTTTTTTTTTT… NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss1536591521, ss1706119263, ss1706119295, ss1997212607, ss3735817795, ss3791439788, ss3796321229, ss3831249967, ss5189509619, ss5830777526	NC_000008.10:79671451::TT	NC_000008.11:78759216:TTTTTTTTTTTT… NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss4187555303, ss5277773375, ss5474273817, ss5731806387	NC_000008.11:78759216::TT	NC_000008.11:78759216:TTTTTTTTTTTT… NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
1461690343	NC_000008.11:78759216:TTTTTTTTTTTT… NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000008.11:78759216:TTTTTTTTTTTT… NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss3964210731	NC_000008.11:78759217::TT	NC_000008.11:78759216:TTTTTTTTTTTT… NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss3722363118	NC_000008.11:78759218::TT	NC_000008.11:78759216:TTTTTTTTTTTT… NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss663873063, ss1706119265, ss1706119296, ss3735817794, ss3786191907, ss3791439789, ss3796321230, ss5189509616, ss5830777525	NC_000008.10:79671451::TTT	NC_000008.11:78759216:TTTTTTTTTTTT… NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss4187555304, ss5277773374, ss5474273816, ss5731806384	NC_000008.11:78759216::TTT	NC_000008.11:78759216:TTTTTTTTTTTT… NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
1461690343	NC_000008.11:78759216:TTTTTTTTTTTT… NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000008.11:78759216:TTTTTTTTTTTT… NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3964210727	NC_000008.11:78759217::TTT	NC_000008.11:78759216:TTTTTTTTTTTT… NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3722363119	NC_000008.11:78759218::TTT	NC_000008.11:78759216:TTTTTTTTTTTT… NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss4302455	NT_008183.19:31535862::TTT	NC_000008.11:78759216:TTTTTTTTTTTT… NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss79942222	NT_008183.19:31535864::TTT	NC_000008.11:78759216:TTTTTTTTTTTT… NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss5189509617	NC_000008.10:79671451::TTTT	NC_000008.11:78759216:TTTTTTTTTTTT… NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4187555305, ss5277773376, ss5474273820, ss5731806386	NC_000008.11:78759216::TTTT	NC_000008.11:78759216:TTTTTTTTTTTT… NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
1461690343	NC_000008.11:78759216:TTTTTTTTTTTT… NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000008.11:78759216:TTTTTTTTTTTT… NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3964210728	NC_000008.11:78759217::TTTT	NC_000008.11:78759216:TTTTTTTTTTTT… NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
1461690343	NC_000008.11:78759216:TTTTTTTTTTTT… NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000008.11:78759216:TTTTTTTTTTTT… NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3722363120	NC_000008.11:78759218::TTTTT	NC_000008.11:78759216:TTTTTTTTTTTT… NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(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 rs3071074

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

rs3071074