Name: rs775059371
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.

rs775059371

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr19:40887504-40887522 (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(T)₁₀ / del(T)₇ / del(T)₆ / del…
del(T)₁₀ / del(T)₇ / del(T)₆ / del(T)₅ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅ / dup(T)₆ / dup(T)₇ / dup(T)₈
Variation Type: Indel Insertion and Deletion
Frequency: dupTT=0.2119 (1255/5922, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: None
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	5922	TTTTTTTTTTTTTTTTTTT=0.6660	TTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0839, TTTTTTTTTTTTTTTTTT=0.0128, TTTTTTTTTTTTTTTTTTTT=0.0225, TTTTTTTTTTTTTTTTTTTTT=0.2119, TTTTTTTTTTTTTTTTTTTTTT=0.0029, TTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.709816	0.166738	0.123446	32
European	Sub	5436	TTTTTTTTTTTTTTTTTTT=0.6367	TTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0914, TTTTTTTTTTTTTTTTTT=0.0140, TTTTTTTTTTTTTTTTTTTT=0.0245, TTTTTTTTTTTTTTTTTTTTT=0.2303, TTTTTTTTTTTTTTTTTTTTTT=0.0031, TTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.677033	0.185646	0.137321	32
African	Sub	324	TTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	6	TTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
African American	Sub	318	TTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	14	TTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	12	TTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	2	TTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	18	TTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	54	TTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	2	TTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Other	Sub	74	TTTTTTTTTTTTTTTTTTT=0.96	TTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.04, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00	0.945946	0.027027	0.027027	9

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	5922	(T)₁₉=0.6660	del(T)₁₀=0.0000, del(T)₇=0.0000, del(T)₆=0.0000, del(T)₅=0.0000, delTTT=0.0000, delTT=0.0839, delT=0.0128, dupT=0.0225, dupTT=0.2119, dupTTT=0.0029, dup(T)₄=0.0000
Allele Frequency Aggregator	European	Sub	5436	(T)₁₉=0.6367	del(T)₁₀=0.0000, del(T)₇=0.0000, del(T)₆=0.0000, del(T)₅=0.0000, delTTT=0.0000, delTT=0.0914, delT=0.0140, dupT=0.0245, dupTT=0.2303, dupTTT=0.0031, dup(T)₄=0.0000
Allele Frequency Aggregator	African	Sub	324	(T)₁₉=1.000	del(T)₁₀=0.000, del(T)₇=0.000, del(T)₆=0.000, del(T)₅=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000
Allele Frequency Aggregator	Other	Sub	74	(T)₁₉=0.96	del(T)₁₀=0.00, del(T)₇=0.00, del(T)₆=0.00, del(T)₅=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.04, dupTTT=0.00, dup(T)₄=0.00
Allele Frequency Aggregator	Latin American 2	Sub	54	(T)₁₉=1.00	del(T)₁₀=0.00, del(T)₇=0.00, del(T)₆=0.00, del(T)₅=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00
Allele Frequency Aggregator	Latin American 1	Sub	18	(T)₁₉=1.00	del(T)₁₀=0.00, del(T)₇=0.00, del(T)₆=0.00, del(T)₅=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00
Allele Frequency Aggregator	Asian	Sub	14	(T)₁₉=1.00	del(T)₁₀=0.00, del(T)₇=0.00, del(T)₆=0.00, del(T)₅=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00
Allele Frequency Aggregator	South Asian	Sub	2	(T)₁₉=1.0	del(T)₁₀=0.0, del(T)₇=0.0, del(T)₆=0.0, del(T)₅=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0, dup(T)₄=0.0

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 19	NC_000019.10:g.40887513_40887522del
GRCh38.p14 chr 19	NC_000019.10:g.40887516_40887522del
GRCh38.p14 chr 19	NC_000019.10:g.40887517_40887522del
GRCh38.p14 chr 19	NC_000019.10:g.40887518_40887522del
GRCh38.p14 chr 19	NC_000019.10:g.40887520_40887522del
GRCh38.p14 chr 19	NC_000019.10:g.40887521_40887522del
GRCh38.p14 chr 19	NC_000019.10:g.40887522del
GRCh38.p14 chr 19	NC_000019.10:g.40887522dup
GRCh38.p14 chr 19	NC_000019.10:g.40887521_40887522dup
GRCh38.p14 chr 19	NC_000019.10:g.40887520_40887522dup
GRCh38.p14 chr 19	NC_000019.10:g.40887519_40887522dup
GRCh38.p14 chr 19	NC_000019.10:g.40887518_40887522dup
GRCh38.p14 chr 19	NC_000019.10:g.40887517_40887522dup
GRCh38.p14 chr 19	NC_000019.10:g.40887516_40887522dup
GRCh38.p14 chr 19	NC_000019.10:g.40887515_40887522dup
GRCh37.p13 chr 19	NC_000019.9:g.41393418_41393427del
GRCh37.p13 chr 19	NC_000019.9:g.41393421_41393427del
GRCh37.p13 chr 19	NC_000019.9:g.41393422_41393427del
GRCh37.p13 chr 19	NC_000019.9:g.41393423_41393427del
GRCh37.p13 chr 19	NC_000019.9:g.41393425_41393427del
GRCh37.p13 chr 19	NC_000019.9:g.41393426_41393427del
GRCh37.p13 chr 19	NC_000019.9:g.41393427del
GRCh37.p13 chr 19	NC_000019.9:g.41393427dup
GRCh37.p13 chr 19	NC_000019.9:g.41393426_41393427dup
GRCh37.p13 chr 19	NC_000019.9:g.41393425_41393427dup
GRCh37.p13 chr 19	NC_000019.9:g.41393424_41393427dup
GRCh37.p13 chr 19	NC_000019.9:g.41393423_41393427dup
GRCh37.p13 chr 19	NC_000019.9:g.41393422_41393427dup
GRCh37.p13 chr 19	NC_000019.9:g.41393421_41393427dup
GRCh37.p13 chr 19	NC_000019.9:g.41393420_41393427dup
CYP2A7 RefSeqGene	NG_007960.1:g.240_249del
CYP2A7 RefSeqGene	NG_007960.1:g.243_249del
CYP2A7 RefSeqGene	NG_007960.1:g.244_249del
CYP2A7 RefSeqGene	NG_007960.1:g.245_249del
CYP2A7 RefSeqGene	NG_007960.1:g.247_249del
CYP2A7 RefSeqGene	NG_007960.1:g.248_249del
CYP2A7 RefSeqGene	NG_007960.1:g.249del
CYP2A7 RefSeqGene	NG_007960.1:g.249dup
CYP2A7 RefSeqGene	NG_007960.1:g.248_249dup
CYP2A7 RefSeqGene	NG_007960.1:g.247_249dup
CYP2A7 RefSeqGene	NG_007960.1:g.246_249dup
CYP2A7 RefSeqGene	NG_007960.1:g.245_249dup
CYP2A7 RefSeqGene	NG_007960.1:g.244_249dup
CYP2A7 RefSeqGene	NG_007960.1:g.243_249dup
CYP2A7 RefSeqGene	NG_007960.1:g.242_249dup

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)₁₉=	del(T)₁₀	del(T)₇	del(T)₆	del(T)₅	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅	dup(T)₆	dup(T)₇	dup(T)₈
GRCh38.p14 chr 19	NC_000019.10:g.40887504_40887522=	NC_000019.10:g.40887513_40887522del	NC_000019.10:g.40887516_40887522del	NC_000019.10:g.40887517_40887522del	NC_000019.10:g.40887518_40887522del	NC_000019.10:g.40887520_40887522del	NC_000019.10:g.40887521_40887522del	NC_000019.10:g.40887522del	NC_000019.10:g.40887522dup	NC_000019.10:g.40887521_40887522dup	NC_000019.10:g.40887520_40887522dup	NC_000019.10:g.40887519_40887522dup	NC_000019.10:g.40887518_40887522dup	NC_000019.10:g.40887517_40887522dup	NC_000019.10:g.40887516_40887522dup	NC_000019.10:g.40887515_40887522dup
GRCh37.p13 chr 19	NC_000019.9:g.41393409_41393427=	NC_000019.9:g.41393418_41393427del	NC_000019.9:g.41393421_41393427del	NC_000019.9:g.41393422_41393427del	NC_000019.9:g.41393423_41393427del	NC_000019.9:g.41393425_41393427del	NC_000019.9:g.41393426_41393427del	NC_000019.9:g.41393427del	NC_000019.9:g.41393427dup	NC_000019.9:g.41393426_41393427dup	NC_000019.9:g.41393425_41393427dup	NC_000019.9:g.41393424_41393427dup	NC_000019.9:g.41393423_41393427dup	NC_000019.9:g.41393422_41393427dup	NC_000019.9:g.41393421_41393427dup	NC_000019.9:g.41393420_41393427dup
CYP2A7 RefSeqGene	NG_007960.1:g.231_249=	NG_007960.1:g.240_249del	NG_007960.1:g.243_249del	NG_007960.1:g.244_249del	NG_007960.1:g.245_249del	NG_007960.1:g.247_249del	NG_007960.1:g.248_249del	NG_007960.1:g.249del	NG_007960.1:g.249dup	NG_007960.1:g.248_249dup	NG_007960.1:g.247_249dup	NG_007960.1:g.246_249dup	NG_007960.1:g.245_249dup	NG_007960.1:g.244_249dup	NG_007960.1:g.243_249dup	NG_007960.1:g.242_249dup

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#.

55 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss41031859	Oct 12, 2018 (152)
2	HGSV	ss80113581	Oct 12, 2018 (152)
3	HGSV	ss81700581	Oct 12, 2018 (152)
4	SSMP	ss664443792	Apr 01, 2015 (144)
5	SWEGEN	ss3017487197	Jan 10, 2018 (151)
6	EVA_DECODE	ss3702785132	Jul 13, 2019 (153)
7	EVA_DECODE	ss3702785133	Jul 13, 2019 (153)
8	EVA_DECODE	ss3702785134	Jul 13, 2019 (153)
9	EVA_DECODE	ss3702785135	Jul 13, 2019 (153)
10	EVA_DECODE	ss3702785136	Jul 13, 2019 (153)
11	EVA_DECODE	ss3702785137	Jul 13, 2019 (153)
12	PACBIO	ss3788533605	Jul 13, 2019 (153)
13	PACBIO	ss3793443597	Jul 13, 2019 (153)
14	PACBIO	ss3793443598	Jul 13, 2019 (153)
15	PACBIO	ss3793443599	Jul 13, 2019 (153)
16	PACBIO	ss3798330419	Jul 13, 2019 (153)
17	PACBIO	ss3798330420	Jul 13, 2019 (153)
18	EVA	ss3835466425	Apr 27, 2020 (154)
19	GNOMAD	ss4331372724	Apr 26, 2021 (155)
20	GNOMAD	ss4331372725	Apr 26, 2021 (155)
21	GNOMAD	ss4331372726	Apr 26, 2021 (155)
22	GNOMAD	ss4331372727	Apr 26, 2021 (155)
23	GNOMAD	ss4331372728	Apr 26, 2021 (155)
24	GNOMAD	ss4331372729	Apr 26, 2021 (155)
25	GNOMAD	ss4331372730	Apr 26, 2021 (155)
26	GNOMAD	ss4331372731	Apr 26, 2021 (155)
27	GNOMAD	ss4331372733	Apr 26, 2021 (155)
28	GNOMAD	ss4331372734	Apr 26, 2021 (155)
29	GNOMAD	ss4331372735	Apr 26, 2021 (155)
30	GNOMAD	ss4331372736	Apr 26, 2021 (155)
31	GNOMAD	ss4331372737	Apr 26, 2021 (155)
32	GNOMAD	ss4331372738	Apr 26, 2021 (155)
33	TOMMO_GENOMICS	ss5227800698	Apr 26, 2021 (155)
34	TOMMO_GENOMICS	ss5227800699	Apr 26, 2021 (155)
35	TOMMO_GENOMICS	ss5227800700	Apr 26, 2021 (155)
36	TOMMO_GENOMICS	ss5227800701	Apr 26, 2021 (155)
37	TOMMO_GENOMICS	ss5227800702	Apr 26, 2021 (155)
38	1000G_HIGH_COVERAGE	ss5307277721	Oct 16, 2022 (156)
39	1000G_HIGH_COVERAGE	ss5307277722	Oct 16, 2022 (156)
40	1000G_HIGH_COVERAGE	ss5307277723	Oct 16, 2022 (156)
41	1000G_HIGH_COVERAGE	ss5307277724	Oct 16, 2022 (156)
42	HUGCELL_USP	ss5499798888	Oct 16, 2022 (156)
43	HUGCELL_USP	ss5499798889	Oct 16, 2022 (156)
44	HUGCELL_USP	ss5499798890	Oct 16, 2022 (156)
45	HUGCELL_USP	ss5499798891	Oct 16, 2022 (156)
46	HUGCELL_USP	ss5499798892	Oct 16, 2022 (156)
47	TOMMO_GENOMICS	ss5786447470	Oct 16, 2022 (156)
48	TOMMO_GENOMICS	ss5786447471	Oct 16, 2022 (156)
49	TOMMO_GENOMICS	ss5786447472	Oct 16, 2022 (156)
50	TOMMO_GENOMICS	ss5786447474	Oct 16, 2022 (156)
51	TOMMO_GENOMICS	ss5786447475	Oct 16, 2022 (156)
52	EVA	ss5840561927	Oct 16, 2022 (156)
53	EVA	ss5840561928	Oct 16, 2022 (156)
54	EVA	ss5840561929	Oct 16, 2022 (156)
55	EVA	ss5852293794	Oct 16, 2022 (156)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 540295184 (NC_000019.10:40887503::T 7917/85768) Row 540295185 (NC_000019.10:40887503::TT 32233/85746) Row 540295186 (NC_000019.10:40887503::TTT 2970/85808)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 540295184 (NC_000019.10:40887503::T 7917/85768) Row 540295185 (NC_000019.10:40887503::TT 32233/85746) Row 540295186 (NC_000019.10:40887503::TTT 2970/85808)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 540295184 (NC_000019.10:40887503::T 7917/85768) Row 540295185 (NC_000019.10:40887503::TT 32233/85746) Row 540295186 (NC_000019.10:40887503::TTT 2970/85808)...	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 540295184 (NC_000019.10:40887503::T 7917/85768) Row 540295185 (NC_000019.10:40887503::TT 32233/85746) Row 540295186 (NC_000019.10:40887503::TTT 2970/85808)...	-	Apr 26, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 540295184 (NC_000019.10:40887503::T 7917/85768) Row 540295185 (NC_000019.10:40887503::TT 32233/85746) Row 540295186 (NC_000019.10:40887503::TTT 2970/85808)...	-	Apr 26, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 540295184 (NC_000019.10:40887503::T 7917/85768) Row 540295185 (NC_000019.10:40887503::TT 32233/85746) Row 540295186 (NC_000019.10:40887503::TTT 2970/85808)...	-	Apr 26, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 540295184 (NC_000019.10:40887503::T 7917/85768) Row 540295185 (NC_000019.10:40887503::TT 32233/85746) Row 540295186 (NC_000019.10:40887503::TTT 2970/85808)...	-	Apr 26, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 540295184 (NC_000019.10:40887503::T 7917/85768) Row 540295185 (NC_000019.10:40887503::TT 32233/85746) Row 540295186 (NC_000019.10:40887503::TTT 2970/85808)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 540295184 (NC_000019.10:40887503::T 7917/85768) Row 540295185 (NC_000019.10:40887503::TT 32233/85746) Row 540295186 (NC_000019.10:40887503::TTT 2970/85808)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 540295184 (NC_000019.10:40887503::T 7917/85768) Row 540295185 (NC_000019.10:40887503::TT 32233/85746) Row 540295186 (NC_000019.10:40887503::TTT 2970/85808)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 540295184 (NC_000019.10:40887503::T 7917/85768) Row 540295185 (NC_000019.10:40887503::TT 32233/85746) Row 540295186 (NC_000019.10:40887503::TTT 2970/85808)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 540295184 (NC_000019.10:40887503::T 7917/85768) Row 540295185 (NC_000019.10:40887503::TT 32233/85746) Row 540295186 (NC_000019.10:40887503::TTT 2970/85808)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 540295184 (NC_000019.10:40887503::T 7917/85768) Row 540295185 (NC_000019.10:40887503::TT 32233/85746) Row 540295186 (NC_000019.10:40887503::TTT 2970/85808)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 540295184 (NC_000019.10:40887503::T 7917/85768) Row 540295185 (NC_000019.10:40887503::TT 32233/85746) Row 540295186 (NC_000019.10:40887503::TTT 2970/85808)...	-	Apr 26, 2021 (155)
70	8.3KJPN Submission ignored due to conflicting rows: Row 85770005 (NC_000019.9:41393408::TT 4377/15870) Row 85770006 (NC_000019.9:41393408:TT: 2158/15870) Row 85770007 (NC_000019.9:41393408::T 37/15870)...	-	Apr 26, 2021 (155)
71	8.3KJPN Submission ignored due to conflicting rows: Row 85770005 (NC_000019.9:41393408::TT 4377/15870) Row 85770006 (NC_000019.9:41393408:TT: 2158/15870) Row 85770007 (NC_000019.9:41393408::T 37/15870)...	-	Apr 26, 2021 (155)
72	8.3KJPN Submission ignored due to conflicting rows: Row 85770005 (NC_000019.9:41393408::TT 4377/15870) Row 85770006 (NC_000019.9:41393408:TT: 2158/15870) Row 85770007 (NC_000019.9:41393408::T 37/15870)...	-	Apr 26, 2021 (155)
73	8.3KJPN Submission ignored due to conflicting rows: Row 85770005 (NC_000019.9:41393408::TT 4377/15870) Row 85770006 (NC_000019.9:41393408:TT: 2158/15870) Row 85770007 (NC_000019.9:41393408::T 37/15870)...	-	Apr 26, 2021 (155)
74	8.3KJPN Submission ignored due to conflicting rows: Row 85770005 (NC_000019.9:41393408::TT 4377/15870) Row 85770006 (NC_000019.9:41393408:TT: 2158/15870) Row 85770007 (NC_000019.9:41393408::T 37/15870)...	-	Apr 26, 2021 (155)
75	14KJPN Submission ignored due to conflicting rows: Row 120284574 (NC_000019.10:40887503:TT: 4352/28084) Row 120284575 (NC_000019.10:40887503::TT 8885/28084) Row 120284576 (NC_000019.10:40887503::T 73/28084)...	-	Oct 16, 2022 (156)
76	14KJPN Submission ignored due to conflicting rows: Row 120284574 (NC_000019.10:40887503:TT: 4352/28084) Row 120284575 (NC_000019.10:40887503::TT 8885/28084) Row 120284576 (NC_000019.10:40887503::T 73/28084)...	-	Oct 16, 2022 (156)
77	14KJPN Submission ignored due to conflicting rows: Row 120284574 (NC_000019.10:40887503:TT: 4352/28084) Row 120284575 (NC_000019.10:40887503::TT 8885/28084) Row 120284576 (NC_000019.10:40887503::T 73/28084)...	-	Oct 16, 2022 (156)
78	14KJPN Submission ignored due to conflicting rows: Row 120284574 (NC_000019.10:40887503:TT: 4352/28084) Row 120284575 (NC_000019.10:40887503::TT 8885/28084) Row 120284576 (NC_000019.10:40887503::T 73/28084)...	-	Oct 16, 2022 (156)
79	14KJPN Submission ignored due to conflicting rows: Row 120284574 (NC_000019.10:40887503:TT: 4352/28084) Row 120284575 (NC_000019.10:40887503::TT 8885/28084) Row 120284576 (NC_000019.10:40887503::T 73/28084)...	-	Oct 16, 2022 (156)
80	ALFA	NC_000019.10 - 40887504	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
5798857378	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT	(self)
ss4331372738	NC_000019.10:40887503:TTTTTTT:	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
5798857378	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss4331372737	NC_000019.10:40887503:TTTTTT:	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
5798857378	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4331372736	NC_000019.10:40887503:TTTTT:	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
5798857378	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss3702785132, ss4331372735	NC_000019.10:40887503:TTT:	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
5798857378	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3017487197, ss3793443597, ss3798330419, ss5227800699, ss5840561929	NC_000019.9:41393408:TT:	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4331372734, ss5307277722, ss5499798889, ss5786447470	NC_000019.10:40887503:TT:	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
5798857378	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3702785133	NC_000019.10:40887504:TT:	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3788533605, ss3793443598, ss5227800702	NC_000019.9:41393408:T:	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4331372733, ss5499798892, ss5786447475	NC_000019.10:40887503:T:	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
5798857378	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3702785134	NC_000019.10:40887505:T:	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss5227800700	NC_000019.9:41393408::T	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4331372724, ss5307277723, ss5499798890, ss5786447472	NC_000019.10:40887503::T	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
5798857378	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss3702785135	NC_000019.10:40887506::T	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss664443792, ss3793443599, ss3798330420, ss3835466425, ss5227800698, ss5840561927	NC_000019.9:41393408::TT	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4331372725, ss5307277721, ss5499798888, ss5786447471, ss5852293794	NC_000019.10:40887503::TT	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
5798857378	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss3702785136	NC_000019.10:40887506::TT	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss41031859	NT_011109.16:13661626::TT	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss81700581	NT_011109.16:13661645::TT	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss5227800701, ss5840561928	NC_000019.9:41393408::TTT	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4331372726, ss5307277724, ss5499798891, ss5786447474	NC_000019.10:40887503::TTT	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
5798857378	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss3702785137	NC_000019.10:40887506::TTT	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss80113581	NT_011109.16:13661645::TTT	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4331372727	NC_000019.10:40887503::TTTT	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
5798857378	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4331372728	NC_000019.10:40887503::TTTTT	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4331372729	NC_000019.10:40887503::TTTTTT	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4331372730	NC_000019.10:40887503::TTTTTTT	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4331372731	NC_000019.10:40887503::TTTTTTTT	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3293511528	NC_000019.10:40887503:TTTTTTTTTT:	NC_000019.10:40887503:TTTTTTTTTTTT… NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT

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

No publications for rs775059371

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

rs775059371