Name: rs398025045
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.

rs398025045

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr14:50945543-50945558 (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)₆ / del(T)₅ / delTTT / delTT…
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 / dup(T)₉
Variation Type: Indel Insertion and Deletion
Frequency: dupT=0.0761 (687/9030, ALFA)
dupTTT=0.0571 (220/3854, ALSPAC)
dupTTT=0.0445 (165/3708, TWINSUK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: PYGL : 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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	9030	TTTTTTTTTTTTTTTT=0.9031	TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0761, TTTTTTTTTTTTTTTTTT=0.0184, TTTTTTTTTTTTTTTTTTT=0.0017, TTTTTTTTTTTTTTTTTTTT=0.0008, TTTTTTTTTTTTTTTTTTTTT=0.0000	0.876955	0.027369	0.095676	32
European	Sub	7516	TTTTTTTTTTTTTTTT=0.8838	TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0911, TTTTTTTTTTTTTTTTTT=0.0221, TTTTTTTTTTTTTTTTTTT=0.0020, TTTTTTTTTTTTTTTTTTTT=0.0009, TTTTTTTTTTTTTTTTTTTTT=0.0000	0.851573	0.033138	0.115288	32
African	Sub	1130	TTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	38	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	1092	TTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	18	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	16	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	2	TTTTTTTTTTTTTTTT=1.0	TTTTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	48	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	118	TTTTTTTTTTTTTTTT=1.000	TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	38	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	162	TTTTTTTTTTTTTTTT=0.988	TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.012, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000	0.975309	0.0	0.024691	0

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	9030	(T)₁₆=0.9031	del(T)₆=0.0000, del(T)₅=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0761, dupTT=0.0184, dupTTT=0.0017, dup(T)₄=0.0008, dup(T)₅=0.0000
Allele Frequency Aggregator	European	Sub	7516	(T)₁₆=0.8838	del(T)₆=0.0000, del(T)₅=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0911, dupTT=0.0221, dupTTT=0.0020, dup(T)₄=0.0009, dup(T)₅=0.0000
Allele Frequency Aggregator	African	Sub	1130	(T)₁₆=1.0000	del(T)₆=0.0000, del(T)₅=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000, dup(T)₄=0.0000, dup(T)₅=0.0000
Allele Frequency Aggregator	Other	Sub	162	(T)₁₆=0.988	del(T)₆=0.000, del(T)₅=0.000, delTT=0.000, delT=0.000, dupT=0.012, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000
Allele Frequency Aggregator	Latin American 2	Sub	118	(T)₁₆=1.000	del(T)₆=0.000, del(T)₅=0.000, 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 1	Sub	48	(T)₁₆=1.00	del(T)₆=0.00, del(T)₅=0.00, 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	38	(T)₁₆=1.00	del(T)₆=0.00, del(T)₅=0.00, 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	18	(T)₁₆=1.00	del(T)₆=0.00, del(T)₅=0.00, 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
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	- No frequency provided	dupTTT=0.0571
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	- No frequency provided	dupTTT=0.0445

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 14	NC_000014.9:g.50945553_50945558del
GRCh38.p14 chr 14	NC_000014.9:g.50945554_50945558del
GRCh38.p14 chr 14	NC_000014.9:g.50945556_50945558del
GRCh38.p14 chr 14	NC_000014.9:g.50945557_50945558del
GRCh38.p14 chr 14	NC_000014.9:g.50945558del
GRCh38.p14 chr 14	NC_000014.9:g.50945558dup
GRCh38.p14 chr 14	NC_000014.9:g.50945557_50945558dup
GRCh38.p14 chr 14	NC_000014.9:g.50945556_50945558dup
GRCh38.p14 chr 14	NC_000014.9:g.50945555_50945558dup
GRCh38.p14 chr 14	NC_000014.9:g.50945554_50945558dup
GRCh38.p14 chr 14	NC_000014.9:g.50945553_50945558dup
GRCh38.p14 chr 14	NC_000014.9:g.50945552_50945558dup
GRCh38.p14 chr 14	NC_000014.9:g.50945551_50945558dup
GRCh38.p14 chr 14	NC_000014.9:g.50945550_50945558dup
GRCh37.p13 chr 14	NC_000014.8:g.51412271_51412276del
GRCh37.p13 chr 14	NC_000014.8:g.51412272_51412276del
GRCh37.p13 chr 14	NC_000014.8:g.51412274_51412276del
GRCh37.p13 chr 14	NC_000014.8:g.51412275_51412276del
GRCh37.p13 chr 14	NC_000014.8:g.51412276del
GRCh37.p13 chr 14	NC_000014.8:g.51412276dup
GRCh37.p13 chr 14	NC_000014.8:g.51412275_51412276dup
GRCh37.p13 chr 14	NC_000014.8:g.51412274_51412276dup
GRCh37.p13 chr 14	NC_000014.8:g.51412273_51412276dup
GRCh37.p13 chr 14	NC_000014.8:g.51412272_51412276dup
GRCh37.p13 chr 14	NC_000014.8:g.51412271_51412276dup
GRCh37.p13 chr 14	NC_000014.8:g.51412270_51412276dup
GRCh37.p13 chr 14	NC_000014.8:g.51412269_51412276dup
GRCh37.p13 chr 14	NC_000014.8:g.51412268_51412276dup
PYGL RefSeqGene	NG_012796.1:g.3983_3988del
PYGL RefSeqGene	NG_012796.1:g.3984_3988del
PYGL RefSeqGene	NG_012796.1:g.3986_3988del
PYGL RefSeqGene	NG_012796.1:g.3987_3988del
PYGL RefSeqGene	NG_012796.1:g.3988del
PYGL RefSeqGene	NG_012796.1:g.3988dup
PYGL RefSeqGene	NG_012796.1:g.3987_3988dup
PYGL RefSeqGene	NG_012796.1:g.3986_3988dup
PYGL RefSeqGene	NG_012796.1:g.3985_3988dup
PYGL RefSeqGene	NG_012796.1:g.3984_3988dup
PYGL RefSeqGene	NG_012796.1:g.3983_3988dup
PYGL RefSeqGene	NG_012796.1:g.3982_3988dup
PYGL RefSeqGene	NG_012796.1:g.3981_3988dup
PYGL RefSeqGene	NG_012796.1:g.3980_3988dup

Gene: PYGL, glycogen phosphorylase L (minus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
PYGL transcript variant 2	NM_001163940.2:c.	N/A	Upstream Transcript Variant
PYGL transcript variant 1	NM_002863.5:c.	N/A	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)₁₆=	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	dup(T)₉
GRCh38.p14 chr 14	NC_000014.9:g.50945543_50945558=	NC_000014.9:g.50945553_50945558del	NC_000014.9:g.50945554_50945558del	NC_000014.9:g.50945556_50945558del	NC_000014.9:g.50945557_50945558del	NC_000014.9:g.50945558del	NC_000014.9:g.50945558dup	NC_000014.9:g.50945557_50945558dup	NC_000014.9:g.50945556_50945558dup	NC_000014.9:g.50945555_50945558dup	NC_000014.9:g.50945554_50945558dup	NC_000014.9:g.50945553_50945558dup	NC_000014.9:g.50945552_50945558dup	NC_000014.9:g.50945551_50945558dup	NC_000014.9:g.50945550_50945558dup
GRCh37.p13 chr 14	NC_000014.8:g.51412261_51412276=	NC_000014.8:g.51412271_51412276del	NC_000014.8:g.51412272_51412276del	NC_000014.8:g.51412274_51412276del	NC_000014.8:g.51412275_51412276del	NC_000014.8:g.51412276del	NC_000014.8:g.51412276dup	NC_000014.8:g.51412275_51412276dup	NC_000014.8:g.51412274_51412276dup	NC_000014.8:g.51412273_51412276dup	NC_000014.8:g.51412272_51412276dup	NC_000014.8:g.51412271_51412276dup	NC_000014.8:g.51412270_51412276dup	NC_000014.8:g.51412269_51412276dup	NC_000014.8:g.51412268_51412276dup
PYGL RefSeqGene	NG_012796.1:g.3973_3988=	NG_012796.1:g.3983_3988del	NG_012796.1:g.3984_3988del	NG_012796.1:g.3986_3988del	NG_012796.1:g.3987_3988del	NG_012796.1:g.3988del	NG_012796.1:g.3988dup	NG_012796.1:g.3987_3988dup	NG_012796.1:g.3986_3988dup	NG_012796.1:g.3985_3988dup	NG_012796.1:g.3984_3988dup	NG_012796.1:g.3983_3988dup	NG_012796.1:g.3982_3988dup	NG_012796.1:g.3981_3988dup	NG_012796.1:g.3980_3988dup

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#.

51 SubSNP, 26 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HUMANGENOME_JCVI	ss95641078	Dec 05, 2013 (138)
2	HUMANGENOME_JCVI	ss96891269	Oct 12, 2018 (152)
3	PJP	ss294831830	Oct 12, 2018 (152)
4	PJP	ss294831831	Oct 12, 2018 (152)
5	SSMP	ss664230032	Apr 01, 2015 (144)
6	EVA_UK10K_ALSPAC	ss1708054016	Apr 01, 2015 (144)
7	EVA_UK10K_TWINSUK	ss1708054298	Apr 01, 2015 (144)
8	SWEGEN	ss3012191647	Nov 08, 2017 (151)
9	SWEGEN	ss3012191648	Nov 08, 2017 (151)
10	SWEGEN	ss3012191649	Nov 08, 2017 (151)
11	URBANLAB	ss3650206098	Oct 12, 2018 (152)
12	EVA_DECODE	ss3696666431	Jul 13, 2019 (153)
13	EVA_DECODE	ss3696666432	Jul 13, 2019 (153)
14	EVA_DECODE	ss3696666433	Jul 13, 2019 (153)
15	EVA_DECODE	ss3696666434	Jul 13, 2019 (153)
16	PACBIO	ss3787663223	Jul 13, 2019 (153)
17	EVA	ss3833915390	Apr 27, 2020 (154)
18	GNOMAD	ss4277945667	Apr 27, 2021 (155)
19	GNOMAD	ss4277945668	Apr 27, 2021 (155)
20	GNOMAD	ss4277945669	Apr 27, 2021 (155)
21	GNOMAD	ss4277945670	Apr 27, 2021 (155)
22	GNOMAD	ss4277945671	Apr 27, 2021 (155)
23	GNOMAD	ss4277945672	Apr 27, 2021 (155)
24	GNOMAD	ss4277945673	Apr 27, 2021 (155)
25	GNOMAD	ss4277945674	Apr 27, 2021 (155)
26	GNOMAD	ss4277945675	Apr 27, 2021 (155)
27	GNOMAD	ss4277945676	Apr 27, 2021 (155)
28	GNOMAD	ss4277945677	Apr 27, 2021 (155)
29	GNOMAD	ss4277945678	Apr 27, 2021 (155)
30	GNOMAD	ss4277945679	Apr 27, 2021 (155)
31	TOMMO_GENOMICS	ss5213205702	Apr 27, 2021 (155)
32	TOMMO_GENOMICS	ss5213205703	Apr 27, 2021 (155)
33	TOMMO_GENOMICS	ss5213205704	Apr 27, 2021 (155)
34	TOMMO_GENOMICS	ss5213205705	Apr 27, 2021 (155)
35	TOMMO_GENOMICS	ss5213205706	Apr 27, 2021 (155)
36	1000G_HIGH_COVERAGE	ss5296201999	Oct 16, 2022 (156)
37	1000G_HIGH_COVERAGE	ss5296202000	Oct 16, 2022 (156)
38	1000G_HIGH_COVERAGE	ss5296202001	Oct 16, 2022 (156)
39	HUGCELL_USP	ss5490247253	Oct 16, 2022 (156)
40	HUGCELL_USP	ss5490247254	Oct 16, 2022 (156)
41	HUGCELL_USP	ss5490247255	Oct 16, 2022 (156)
42	HUGCELL_USP	ss5490247256	Oct 16, 2022 (156)
43	TOMMO_GENOMICS	ss5766000536	Oct 16, 2022 (156)
44	TOMMO_GENOMICS	ss5766000537	Oct 16, 2022 (156)
45	TOMMO_GENOMICS	ss5766000538	Oct 16, 2022 (156)
46	TOMMO_GENOMICS	ss5766000539	Oct 16, 2022 (156)
47	TOMMO_GENOMICS	ss5766000540	Oct 16, 2022 (156)
48	EVA	ss5841099181	Oct 16, 2022 (156)
49	EVA	ss5841099182	Oct 16, 2022 (156)
50	EVA	ss5851029072	Oct 16, 2022 (156)
51	EVA	ss5947637385	Oct 16, 2022 (156)
52	The Avon Longitudinal Study of Parents and Children	NC_000014.8 - 51412261	Oct 12, 2018 (152)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 451013406 (NC_000014.9:50945542::T 30797/115700) Row 451013407 (NC_000014.9:50945542::TT 11183/115822) Row 451013408 (NC_000014.9:50945542::TTT 430/115836)...	-	Apr 27, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 451013406 (NC_000014.9:50945542::T 30797/115700) Row 451013407 (NC_000014.9:50945542::TT 11183/115822) Row 451013408 (NC_000014.9:50945542::TTT 430/115836)...	-	Apr 27, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 451013406 (NC_000014.9:50945542::T 30797/115700) Row 451013407 (NC_000014.9:50945542::TT 11183/115822) Row 451013408 (NC_000014.9:50945542::TTT 430/115836)...	-	Apr 27, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 451013406 (NC_000014.9:50945542::T 30797/115700) Row 451013407 (NC_000014.9:50945542::TT 11183/115822) Row 451013408 (NC_000014.9:50945542::TTT 430/115836)...	-	Apr 27, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 451013406 (NC_000014.9:50945542::T 30797/115700) Row 451013407 (NC_000014.9:50945542::TT 11183/115822) Row 451013408 (NC_000014.9:50945542::TTT 430/115836)...	-	Apr 27, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 451013406 (NC_000014.9:50945542::T 30797/115700) Row 451013407 (NC_000014.9:50945542::TT 11183/115822) Row 451013408 (NC_000014.9:50945542::TTT 430/115836)...	-	Apr 27, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 451013406 (NC_000014.9:50945542::T 30797/115700) Row 451013407 (NC_000014.9:50945542::TT 11183/115822) Row 451013408 (NC_000014.9:50945542::TTT 430/115836)...	-	Apr 27, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 451013406 (NC_000014.9:50945542::T 30797/115700) Row 451013407 (NC_000014.9:50945542::TT 11183/115822) Row 451013408 (NC_000014.9:50945542::TTT 430/115836)...	-	Apr 27, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 451013406 (NC_000014.9:50945542::T 30797/115700) Row 451013407 (NC_000014.9:50945542::TT 11183/115822) Row 451013408 (NC_000014.9:50945542::TTT 430/115836)...	-	Apr 27, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 451013406 (NC_000014.9:50945542::T 30797/115700) Row 451013407 (NC_000014.9:50945542::TT 11183/115822) Row 451013408 (NC_000014.9:50945542::TTT 430/115836)...	-	Apr 27, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 451013406 (NC_000014.9:50945542::T 30797/115700) Row 451013407 (NC_000014.9:50945542::TT 11183/115822) Row 451013408 (NC_000014.9:50945542::TTT 430/115836)...	-	Apr 27, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 451013406 (NC_000014.9:50945542::T 30797/115700) Row 451013407 (NC_000014.9:50945542::TT 11183/115822) Row 451013408 (NC_000014.9:50945542::TTT 430/115836)...	-	Apr 27, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 451013406 (NC_000014.9:50945542::T 30797/115700) Row 451013407 (NC_000014.9:50945542::TT 11183/115822) Row 451013408 (NC_000014.9:50945542::TTT 430/115836)...	-	Apr 27, 2021 (155)
66	8.3KJPN Submission ignored due to conflicting rows: Row 71175009 (NC_000014.8:51412260::T 8703/16220) Row 71175010 (NC_000014.8:51412260::TT 163/16220) Row 71175011 (NC_000014.8:51412260::TTTT 28/16220)...	-	Apr 27, 2021 (155)
67	8.3KJPN Submission ignored due to conflicting rows: Row 71175009 (NC_000014.8:51412260::T 8703/16220) Row 71175010 (NC_000014.8:51412260::TT 163/16220) Row 71175011 (NC_000014.8:51412260::TTTT 28/16220)...	-	Apr 27, 2021 (155)
68	8.3KJPN Submission ignored due to conflicting rows: Row 71175009 (NC_000014.8:51412260::T 8703/16220) Row 71175010 (NC_000014.8:51412260::TT 163/16220) Row 71175011 (NC_000014.8:51412260::TTTT 28/16220)...	-	Apr 27, 2021 (155)
69	8.3KJPN Submission ignored due to conflicting rows: Row 71175009 (NC_000014.8:51412260::T 8703/16220) Row 71175010 (NC_000014.8:51412260::TT 163/16220) Row 71175011 (NC_000014.8:51412260::TTTT 28/16220)...	-	Apr 27, 2021 (155)
70	8.3KJPN Submission ignored due to conflicting rows: Row 71175009 (NC_000014.8:51412260::T 8703/16220) Row 71175010 (NC_000014.8:51412260::TT 163/16220) Row 71175011 (NC_000014.8:51412260::TTTT 28/16220)...	-	Apr 27, 2021 (155)
71	14KJPN Submission ignored due to conflicting rows: Row 99837640 (NC_000014.9:50945542::T 12054/24748) Row 99837641 (NC_000014.9:50945542::TTTT 22/24748) Row 99837642 (NC_000014.9:50945542::TT 213/24748)...	-	Oct 16, 2022 (156)
72	14KJPN Submission ignored due to conflicting rows: Row 99837640 (NC_000014.9:50945542::T 12054/24748) Row 99837641 (NC_000014.9:50945542::TTTT 22/24748) Row 99837642 (NC_000014.9:50945542::TT 213/24748)...	-	Oct 16, 2022 (156)
73	14KJPN Submission ignored due to conflicting rows: Row 99837640 (NC_000014.9:50945542::T 12054/24748) Row 99837641 (NC_000014.9:50945542::TTTT 22/24748) Row 99837642 (NC_000014.9:50945542::TT 213/24748)...	-	Oct 16, 2022 (156)
74	14KJPN Submission ignored due to conflicting rows: Row 99837640 (NC_000014.9:50945542::T 12054/24748) Row 99837641 (NC_000014.9:50945542::TTTT 22/24748) Row 99837642 (NC_000014.9:50945542::TT 213/24748)...	-	Oct 16, 2022 (156)
75	14KJPN Submission ignored due to conflicting rows: Row 99837640 (NC_000014.9:50945542::T 12054/24748) Row 99837641 (NC_000014.9:50945542::TTTT 22/24748) Row 99837642 (NC_000014.9:50945542::TT 213/24748)...	-	Oct 16, 2022 (156)
76	UK 10K study - Twins	NC_000014.8 - 51412261	Oct 12, 2018 (152)
77	ALFA	NC_000014.9 - 50945543	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4277945679	NC_000014.9:50945542:TTTTTT:	NC_000014.9:50945542:TTTTTTTTTTTTT… NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
7122951853	NC_000014.9:50945542:TTTTTTTTTTTTT… NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTT	NC_000014.9:50945542:TTTTTTTTTTTTT… NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
7122951853	NC_000014.9:50945542:TTTTTTTTTTTTT… NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000014.9:50945542:TTTTTTTTTTTTT… NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss4277945678	NC_000014.9:50945542:TTT:	NC_000014.9:50945542:TTTTTTTTTTTTT… NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4277945677	NC_000014.9:50945542:TT:	NC_000014.9:50945542:TTTTTTTTTTTTT… NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
7122951853	NC_000014.9:50945542:TTTTTTTTTTTTT… NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000014.9:50945542:TTTTTTTTTTTTT… NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss3787663223, ss5213205706	NC_000014.8:51412260:T:	NC_000014.9:50945542:TTTTTTTTTTTTT… NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3696666431, ss4277945676, ss5296202001, ss5490247255, ss5766000540	NC_000014.9:50945542:T:	NC_000014.9:50945542:TTTTTTTTTTTTT… NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
7122951853	NC_000014.9:50945542:TTTTTTTTTTTTT… NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000014.9:50945542:TTTTTTTTTTTTT… NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss294831831	NC_000014.7:50482026::T	NC_000014.9:50945542:TTTTTTTTTTTTT… NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss664230032, ss3012191647, ss5213205702	NC_000014.8:51412260::T	NC_000014.9:50945542:TTTTTTTTTTTTT… NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3650206098, ss4277945667, ss5296201999, ss5490247253, ss5766000536, ss5851029072	NC_000014.9:50945542::T	NC_000014.9:50945542:TTTTTTTTTTTTT… NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
7122951853	NC_000014.9:50945542:TTTTTTTTTTTTT… NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000014.9:50945542:TTTTTTTTTTTTT… NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3696666432	NC_000014.9:50945543::T	NC_000014.9:50945542:TTTTTTTTTTTTT… NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss96891269	NT_026437.12:32412260::T	NC_000014.9:50945542:TTTTTTTTTTTTT… NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss95641078	NT_026437.12:32412276::T	NC_000014.9:50945542:TTTTTTTTTTTTT… NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss294831830	NC_000014.7:50482011::TT	NC_000014.9:50945542:TTTTTTTTTTTTT… NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3012191648, ss3833915390, ss5213205703, ss5841099181	NC_000014.8:51412260::TT	NC_000014.9:50945542:TTTTTTTTTTTTT… NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4277945668, ss5296202000, ss5490247254, ss5766000538	NC_000014.9:50945542::TT	NC_000014.9:50945542:TTTTTTTTTTTTT… NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
7122951853	NC_000014.9:50945542:TTTTTTTTTTTTT… NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000014.9:50945542:TTTTTTTTTTTTT… NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3696666433	NC_000014.9:50945543::TT	NC_000014.9:50945542:TTTTTTTTTTTTT… NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
35526682, 35526682, ss1708054016, ss1708054298, ss3012191649, ss5213205705, ss5841099182, ss5947637385	NC_000014.8:51412260::TTT	NC_000014.9:50945542:TTTTTTTTTTTTT… NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4277945669, ss5490247256, ss5766000539	NC_000014.9:50945542::TTT	NC_000014.9:50945542:TTTTTTTTTTTTT… NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
7122951853	NC_000014.9:50945542:TTTTTTTTTTTTT… NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000014.9:50945542:TTTTTTTTTTTTT… NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss5213205704	NC_000014.8:51412260::TTTT	NC_000014.9:50945542:TTTTTTTTTTTTT… NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4277945670, ss5766000537	NC_000014.9:50945542::TTTT	NC_000014.9:50945542:TTTTTTTTTTTTT… NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
7122951853	NC_000014.9:50945542:TTTTTTTTTTTTT… NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000014.9:50945542:TTTTTTTTTTTTT… NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4277945671	NC_000014.9:50945542::TTTTT	NC_000014.9:50945542:TTTTTTTTTTTTT… NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
7122951853	NC_000014.9:50945542:TTTTTTTTTTTTT… NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000014.9:50945542:TTTTTTTTTTTTT… NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4277945672	NC_000014.9:50945542::TTTTTT	NC_000014.9:50945542:TTTTTTTTTTTTT… NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss3696666434	NC_000014.9:50945543::TTTTTT	NC_000014.9:50945542:TTTTTTTTTTTTT… NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4277945673	NC_000014.9:50945542::TTTTTTT	NC_000014.9:50945542:TTTTTTTTTTTTT… NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4277945674	NC_000014.9:50945542::TTTTTTTT	NC_000014.9:50945542:TTTTTTTTTTTTT… NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4277945675	NC_000014.9:50945542::TTTTTTTTT	NC_000014.9:50945542:TTTTTTTTTTTTT… NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(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 rs398025045

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

rs398025045