Name: rs201254745
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.

rs201254745

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr14:69397453-69397466 (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: delAAA / delAA / delA / dupA / dup…
delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₆ / dup(A)₇
Variation Type: Indel Insertion and Deletion
Frequency: dupAAA=0.02046 (293/14323, ALFA)
dupAAA=0.0919 (460/5008, 1000G)
dupAAA=0.1591 (613/3854, ALSPAC) (+ 2 more)
dupAAA=0.1761 (653/3708, TWINSUK)
dupAAA=0.024 (14/584, NorthernSweden)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ERH : Intron Variant
SLC39A9 : 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	14323	AAAAAAAAAAAAAA=0.96425	AAAAAAAAAAAA=0.00000, AAAAAAAAAAAAA=0.00007, AAAAAAAAAAAAAAA=0.01522, AAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAA=0.02046, AAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAA=0.00000	0.963592	0.003598	0.03281	32
European	Sub	10969	AAAAAAAAAAAAAA=0.95341	AAAAAAAAAAAA=0.00000, AAAAAAAAAAAAA=0.00009, AAAAAAAAAAAAAAA=0.01987, AAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAA=0.02662, AAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAA=0.00000	0.9522	0.004742	0.043058	32
African	Sub	2290	AAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	90	AAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	2200	AAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	90	AAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	64	AAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	26	AAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	94	AAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	454	AAAAAAAAAAAAAA=1.000	AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	60	AAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	366	AAAAAAAAAAAAAA=0.997	AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.003, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000	0.994536	0.0	0.005464	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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	14323	(A)₁₄=0.96425	delAA=0.00000, delA=0.00007, dupA=0.01522, dupAA=0.00000, dupAAA=0.02046, dup(A)₄=0.00000, dup(A)₅=0.00000, dup(A)₆=0.00000, dup(A)₇=0.00000
Allele Frequency Aggregator	European	Sub	10969	(A)₁₄=0.95341	delAA=0.00000, delA=0.00009, dupA=0.01987, dupAA=0.00000, dupAAA=0.02662, dup(A)₄=0.00000, dup(A)₅=0.00000, dup(A)₆=0.00000, dup(A)₇=0.00000
Allele Frequency Aggregator	African	Sub	2290	(A)₁₄=1.0000	delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₄=0.0000, dup(A)₅=0.0000, dup(A)₆=0.0000, dup(A)₇=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	454	(A)₁₄=1.000	delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000, dup(A)₆=0.000, dup(A)₇=0.000
Allele Frequency Aggregator	Other	Sub	366	(A)₁₄=0.997	delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.003, dup(A)₄=0.000, dup(A)₅=0.000, dup(A)₆=0.000, dup(A)₇=0.000
Allele Frequency Aggregator	Latin American 1	Sub	94	(A)₁₄=1.00	delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00, dup(A)₆=0.00, dup(A)₇=0.00
Allele Frequency Aggregator	Asian	Sub	90	(A)₁₄=1.00	delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00, dup(A)₆=0.00, dup(A)₇=0.00
Allele Frequency Aggregator	South Asian	Sub	60	(A)₁₄=1.00	delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00, dup(A)₆=0.00, dup(A)₇=0.00
1000Genomes	Global	Study-wide	5008	- No frequency provided	dupAAA=0.0919
1000Genomes	African	Sub	1322	- No frequency provided	dupAAA=0.0227
1000Genomes	East Asian	Sub	1008	- No frequency provided	dupAAA=0.0079
1000Genomes	Europe	Sub	1006	- No frequency provided	dupAAA=0.2117
1000Genomes	South Asian	Sub	978	- No frequency provided	dupAAA=0.146
1000Genomes	American	Sub	694	- No frequency provided	dupAAA=0.095
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	- No frequency provided	dupAAA=0.1591
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	- No frequency provided	dupAAA=0.1761
Northern Sweden	ACPOP	Study-wide	584	- No frequency provided	dupAAA=0.024

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.69397464_69397466del
GRCh38.p14 chr 14	NC_000014.9:g.69397465_69397466del
GRCh38.p14 chr 14	NC_000014.9:g.69397466del
GRCh38.p14 chr 14	NC_000014.9:g.69397466dup
GRCh38.p14 chr 14	NC_000014.9:g.69397465_69397466dup
GRCh38.p14 chr 14	NC_000014.9:g.69397464_69397466dup
GRCh38.p14 chr 14	NC_000014.9:g.69397463_69397466dup
GRCh38.p14 chr 14	NC_000014.9:g.69397462_69397466dup
GRCh38.p14 chr 14	NC_000014.9:g.69397461_69397466dup
GRCh38.p14 chr 14	NC_000014.9:g.69397460_69397466dup
GRCh37.p13 chr 14	NC_000014.8:g.69864181_69864183del
GRCh37.p13 chr 14	NC_000014.8:g.69864182_69864183del
GRCh37.p13 chr 14	NC_000014.8:g.69864183del
GRCh37.p13 chr 14	NC_000014.8:g.69864183dup
GRCh37.p13 chr 14	NC_000014.8:g.69864182_69864183dup
GRCh37.p13 chr 14	NC_000014.8:g.69864181_69864183dup
GRCh37.p13 chr 14	NC_000014.8:g.69864180_69864183dup
GRCh37.p13 chr 14	NC_000014.8:g.69864179_69864183dup
GRCh37.p13 chr 14	NC_000014.8:g.69864178_69864183dup
GRCh37.p13 chr 14	NC_000014.8:g.69864177_69864183dup

Gene: ERH, ERH mRNA splicing and mitosis factor (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ERH transcript	NM_004450.3:c.3+776_3+778… NM_004450.3:c.3+776_3+778del	N/A	Intron Variant

Gene: SLC39A9, solute carrier family 39 member 9 (plus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
SLC39A9 transcript variant 2	NM_001252148.2:c.	N/A	Upstream Transcript Variant
SLC39A9 transcript variant 3	NM_001252150.2:c.	N/A	Upstream Transcript Variant
SLC39A9 transcript variant 4	NM_001252151.2:c.	N/A	Upstream Transcript Variant
SLC39A9 transcript variant 5	NM_001252152.2:c.	N/A	Upstream Transcript Variant
SLC39A9 transcript variant 6	NM_001330185.2:c.	N/A	Upstream Transcript Variant
SLC39A9 transcript variant 1	NM_018375.5:c.	N/A	Upstream Transcript Variant
SLC39A9 transcript variant X1	XM_024449648.2:c.	N/A	Upstream Transcript Variant
SLC39A9 transcript variant X2	XM_047431550.1: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	(A)₁₄=	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₆	dup(A)₇
GRCh38.p14 chr 14	NC_000014.9:g.69397453_69397466=	NC_000014.9:g.69397464_69397466del	NC_000014.9:g.69397465_69397466del	NC_000014.9:g.69397466del	NC_000014.9:g.69397466dup	NC_000014.9:g.69397465_69397466dup	NC_000014.9:g.69397464_69397466dup	NC_000014.9:g.69397463_69397466dup	NC_000014.9:g.69397462_69397466dup	NC_000014.9:g.69397461_69397466dup	NC_000014.9:g.69397460_69397466dup
GRCh37.p13 chr 14	NC_000014.8:g.69864170_69864183=	NC_000014.8:g.69864181_69864183del	NC_000014.8:g.69864182_69864183del	NC_000014.8:g.69864183del	NC_000014.8:g.69864183dup	NC_000014.8:g.69864182_69864183dup	NC_000014.8:g.69864181_69864183dup	NC_000014.8:g.69864180_69864183dup	NC_000014.8:g.69864179_69864183dup	NC_000014.8:g.69864178_69864183dup	NC_000014.8:g.69864177_69864183dup
ERH transcript	NM_004450.2:c.3+778=	NM_004450.2:c.3+776_3+778del	NM_004450.2:c.3+777_3+778del	NM_004450.2:c.3+778del	NM_004450.2:c.3+778dup	NM_004450.2:c.3+777_3+778dup	NM_004450.2:c.3+776_3+778dup	NM_004450.2:c.3+775_3+778dup	NM_004450.2:c.3+774_3+778dup	NM_004450.2:c.3+773_3+778dup	NM_004450.2:c.3+772_3+778dup
ERH transcript	NM_004450.3:c.3+778=	NM_004450.3:c.3+776_3+778del	NM_004450.3:c.3+777_3+778del	NM_004450.3:c.3+778del	NM_004450.3:c.3+778dup	NM_004450.3:c.3+777_3+778dup	NM_004450.3:c.3+776_3+778dup	NM_004450.3:c.3+775_3+778dup	NM_004450.3:c.3+774_3+778dup	NM_004450.3:c.3+773_3+778dup	NM_004450.3:c.3+772_3+778dup

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#.

56 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	GMI	ss289228337	May 04, 2012 (137)
2	GMI	ss289228338	May 04, 2012 (137)
3	SSIP	ss947331689	Aug 21, 2014 (142)
4	1000GENOMES	ss1374237187	Aug 21, 2014 (142)
5	DDI	ss1536789032	Apr 01, 2015 (144)
6	EVA_UK10K_ALSPAC	ss1708105430	Apr 01, 2015 (144)
7	EVA_UK10K_TWINSUK	ss1708105442	Apr 01, 2015 (144)
8	SWEGEN	ss3012401045	Nov 08, 2017 (151)
9	SWEGEN	ss3012401046	Nov 08, 2017 (151)
10	SWEGEN	ss3012401047	Nov 08, 2017 (151)
11	EVA_DECODE	ss3696921057	Jul 13, 2019 (153)
12	EVA_DECODE	ss3696921058	Jul 13, 2019 (153)
13	EVA_DECODE	ss3696921059	Jul 13, 2019 (153)
14	EVA_DECODE	ss3696921060	Jul 13, 2019 (153)
15	ACPOP	ss3740489760	Jul 13, 2019 (153)
16	PACBIO	ss3792732217	Jul 13, 2019 (153)
17	PACBIO	ss3792732218	Jul 13, 2019 (153)
18	PACBIO	ss3797616525	Jul 13, 2019 (153)
19	PACBIO	ss3797616526	Jul 13, 2019 (153)
20	KHV_HUMAN_GENOMES	ss3817802110	Jul 13, 2019 (153)
21	EVA	ss3833981701	Apr 27, 2020 (154)
22	EVA	ss3840582037	Apr 27, 2020 (154)
23	EVA	ss3846071508	Apr 27, 2020 (154)
24	GNOMAD	ss4280174655	Apr 26, 2021 (155)
25	GNOMAD	ss4280174656	Apr 26, 2021 (155)
26	GNOMAD	ss4280174657	Apr 26, 2021 (155)
27	GNOMAD	ss4280174658	Apr 26, 2021 (155)
28	GNOMAD	ss4280174659	Apr 26, 2021 (155)
29	GNOMAD	ss4280174660	Apr 26, 2021 (155)
30	GNOMAD	ss4280174661	Apr 26, 2021 (155)
31	GNOMAD	ss4280174663	Apr 26, 2021 (155)
32	TOMMO_GENOMICS	ss5213786253	Apr 26, 2021 (155)
33	TOMMO_GENOMICS	ss5213786254	Apr 26, 2021 (155)
34	TOMMO_GENOMICS	ss5213786255	Apr 26, 2021 (155)
35	TOMMO_GENOMICS	ss5213786256	Apr 26, 2021 (155)
36	1000G_HIGH_COVERAGE	ss5296652725	Oct 16, 2022 (156)
37	1000G_HIGH_COVERAGE	ss5296652726	Oct 16, 2022 (156)
38	1000G_HIGH_COVERAGE	ss5296652727	Oct 16, 2022 (156)
39	1000G_HIGH_COVERAGE	ss5296652728	Oct 16, 2022 (156)
40	1000G_HIGH_COVERAGE	ss5296652729	Oct 16, 2022 (156)
41	1000G_HIGH_COVERAGE	ss5296652730	Oct 16, 2022 (156)
42	HUGCELL_USP	ss5490653868	Oct 16, 2022 (156)
43	HUGCELL_USP	ss5490653869	Oct 16, 2022 (156)
44	HUGCELL_USP	ss5490653870	Oct 16, 2022 (156)
45	HUGCELL_USP	ss5490653871	Oct 16, 2022 (156)
46	HUGCELL_USP	ss5490653872	Oct 16, 2022 (156)
47	EVA	ss5511286417	Oct 16, 2022 (156)
48	TOMMO_GENOMICS	ss5766749159	Oct 16, 2022 (156)
49	TOMMO_GENOMICS	ss5766749160	Oct 16, 2022 (156)
50	TOMMO_GENOMICS	ss5766749161	Oct 16, 2022 (156)
51	TOMMO_GENOMICS	ss5766749162	Oct 16, 2022 (156)
52	TOMMO_GENOMICS	ss5766749163	Oct 16, 2022 (156)
53	EVA	ss5841278637	Oct 16, 2022 (156)
54	EVA	ss5841278638	Oct 16, 2022 (156)
55	EVA	ss5901834318	Oct 16, 2022 (156)
56	EVA	ss5947908428	Oct 16, 2022 (156)
57	1000Genomes	NC_000014.8 - 69864170	Oct 12, 2018 (152)
58	The Avon Longitudinal Study of Parents and Children	NC_000014.8 - 69864170	Oct 12, 2018 (152)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 454739745 (NC_000014.9:69397452::A 6262/116580) Row 454739746 (NC_000014.9:69397452::AA 711/116652) Row 454739747 (NC_000014.9:69397452::AAA 15829/116446)...	-	Apr 26, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 454739745 (NC_000014.9:69397452::A 6262/116580) Row 454739746 (NC_000014.9:69397452::AA 711/116652) Row 454739747 (NC_000014.9:69397452::AAA 15829/116446)...	-	Apr 26, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 454739745 (NC_000014.9:69397452::A 6262/116580) Row 454739746 (NC_000014.9:69397452::AA 711/116652) Row 454739747 (NC_000014.9:69397452::AAA 15829/116446)...	-	Apr 26, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 454739745 (NC_000014.9:69397452::A 6262/116580) Row 454739746 (NC_000014.9:69397452::AA 711/116652) Row 454739747 (NC_000014.9:69397452::AAA 15829/116446)...	-	Apr 26, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 454739745 (NC_000014.9:69397452::A 6262/116580) Row 454739746 (NC_000014.9:69397452::AA 711/116652) Row 454739747 (NC_000014.9:69397452::AAA 15829/116446)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 454739745 (NC_000014.9:69397452::A 6262/116580) Row 454739746 (NC_000014.9:69397452::AA 711/116652) Row 454739747 (NC_000014.9:69397452::AAA 15829/116446)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 454739745 (NC_000014.9:69397452::A 6262/116580) Row 454739746 (NC_000014.9:69397452::AA 711/116652) Row 454739747 (NC_000014.9:69397452::AAA 15829/116446)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 454739745 (NC_000014.9:69397452::A 6262/116580) Row 454739746 (NC_000014.9:69397452::AA 711/116652) Row 454739747 (NC_000014.9:69397452::AAA 15829/116446)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 454739745 (NC_000014.9:69397452::A 6262/116580) Row 454739746 (NC_000014.9:69397452::AA 711/116652) Row 454739747 (NC_000014.9:69397452::AAA 15829/116446)...	-	Apr 26, 2021 (155)
68	Northern Sweden	NC_000014.8 - 69864170	Jul 13, 2019 (153)
69	8.3KJPN Submission ignored due to conflicting rows: Row 71755560 (NC_000014.8:69864169::A 1701/16754) Row 71755561 (NC_000014.8:69864169:A: 27/16754) Row 71755562 (NC_000014.8:69864169::AAA 34/16754)...	-	Apr 26, 2021 (155)
70	8.3KJPN Submission ignored due to conflicting rows: Row 71755560 (NC_000014.8:69864169::A 1701/16754) Row 71755561 (NC_000014.8:69864169:A: 27/16754) Row 71755562 (NC_000014.8:69864169::AAA 34/16754)...	-	Apr 26, 2021 (155)
71	8.3KJPN Submission ignored due to conflicting rows: Row 71755560 (NC_000014.8:69864169::A 1701/16754) Row 71755561 (NC_000014.8:69864169:A: 27/16754) Row 71755562 (NC_000014.8:69864169::AAA 34/16754)...	-	Apr 26, 2021 (155)
72	8.3KJPN Submission ignored due to conflicting rows: Row 71755560 (NC_000014.8:69864169::A 1701/16754) Row 71755561 (NC_000014.8:69864169:A: 27/16754) Row 71755562 (NC_000014.8:69864169::AAA 34/16754)...	-	Apr 26, 2021 (155)
73	14KJPN Submission ignored due to conflicting rows: Row 100586263 (NC_000014.9:69397452::A 2899/28258) Row 100586264 (NC_000014.9:69397452:A: 32/28258) Row 100586265 (NC_000014.9:69397452::AAA 52/28258)...	-	Oct 16, 2022 (156)
74	14KJPN Submission ignored due to conflicting rows: Row 100586263 (NC_000014.9:69397452::A 2899/28258) Row 100586264 (NC_000014.9:69397452:A: 32/28258) Row 100586265 (NC_000014.9:69397452::AAA 52/28258)...	-	Oct 16, 2022 (156)
75	14KJPN Submission ignored due to conflicting rows: Row 100586263 (NC_000014.9:69397452::A 2899/28258) Row 100586264 (NC_000014.9:69397452:A: 32/28258) Row 100586265 (NC_000014.9:69397452::AAA 52/28258)...	-	Oct 16, 2022 (156)
76	14KJPN Submission ignored due to conflicting rows: Row 100586263 (NC_000014.9:69397452::A 2899/28258) Row 100586264 (NC_000014.9:69397452:A: 32/28258) Row 100586265 (NC_000014.9:69397452::AAA 52/28258)...	-	Oct 16, 2022 (156)
77	14KJPN Submission ignored due to conflicting rows: Row 100586263 (NC_000014.9:69397452::A 2899/28258) Row 100586264 (NC_000014.9:69397452:A: 32/28258) Row 100586265 (NC_000014.9:69397452::AAA 52/28258)...	-	Oct 16, 2022 (156)
78	UK 10K study - Twins	NC_000014.8 - 69864170	Oct 12, 2018 (152)
79	ALFA	NC_000014.9 - 69397453	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
ss5511286417	NC_000014.8:69864169:AAA:	NC_000014.9:69397452:AAAAAAAAAAAAA… NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAA
ss5766749163	NC_000014.9:69397452:AAA:	NC_000014.9:69397452:AAAAAAAAAAAAA… NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAA
ss4280174663	NC_000014.9:69397452:AA:	NC_000014.9:69397452:AAAAAAAAAAAAA… NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
9888192592	NC_000014.9:69397452:AAAAAAAAAAAAA… NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000014.9:69397452:AAAAAAAAAAAAA… NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss289228337	NC_000014.7:68933922:A:	NC_000014.9:69397452:AAAAAAAAAAAAA… NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss5213786254	NC_000014.8:69864169:A:	NC_000014.9:69397452:AAAAAAAAAAAAA… NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3696921060, ss5296652730, ss5490653868, ss5766749160	NC_000014.9:69397452:A:	NC_000014.9:69397452:AAAAAAAAAAAAA… NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
9888192592	NC_000014.9:69397452:AAAAAAAAAAAAA… NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000014.9:69397452:AAAAAAAAAAAAA… NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss289228338	NC_000014.7:68933936::A	NC_000014.9:69397452:AAAAAAAAAAAAA… NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3012401046, ss5213786253	NC_000014.8:69864169::A	NC_000014.9:69397452:AAAAAAAAAAAAA… NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4280174655, ss5296652726, ss5490653869, ss5766749159	NC_000014.9:69397452::A	NC_000014.9:69397452:AAAAAAAAAAAAA… NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
9888192592	NC_000014.9:69397452:AAAAAAAAAAAAA… NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000014.9:69397452:AAAAAAAAAAAAA… NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3696921059	NC_000014.9:69397453::A	NC_000014.9:69397452:AAAAAAAAAAAAA… NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss1536789032, ss3012401047, ss3792732217, ss3797616525, ss5213786256	NC_000014.8:69864169::AA	NC_000014.9:69397452:AAAAAAAAAAAAA… NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4280174656, ss5296652729, ss5490653871, ss5766749162	NC_000014.9:69397452::AA	NC_000014.9:69397452:AAAAAAAAAAAAA… NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
9888192592	NC_000014.9:69397452:AAAAAAAAAAAAA… NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000014.9:69397452:AAAAAAAAAAAAA… NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3696921058	NC_000014.9:69397453::AA	NC_000014.9:69397452:AAAAAAAAAAAAA… NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
64493279, 35834860, 13774625, 35834860, ss1374237187, ss1708105430, ss1708105442, ss3012401045, ss3740489760, ss3792732218, ss3797616526, ss3833981701, ss3840582037, ss5213786255, ss5841278637, ss5947908428	NC_000014.8:69864169::AAA	NC_000014.9:69397452:AAAAAAAAAAAAA… NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss947331689	NC_000014.8:69864170::AAA	NC_000014.9:69397452:AAAAAAAAAAAAA… NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3817802110, ss3846071508, ss4280174657, ss5296652725, ss5490653870, ss5766749161, ss5901834318	NC_000014.9:69397452::AAA	NC_000014.9:69397452:AAAAAAAAAAAAA… NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
9888192592	NC_000014.9:69397452:AAAAAAAAAAAAA… NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000014.9:69397452:AAAAAAAAAAAAA… NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3696921057	NC_000014.9:69397453::AAA	NC_000014.9:69397452:AAAAAAAAAAAAA… NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss5841278638	NC_000014.8:69864169::AAAA	NC_000014.9:69397452:AAAAAAAAAAAAA… NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
ss4280174658, ss5296652728, ss5490653872	NC_000014.9:69397452::AAAA	NC_000014.9:69397452:AAAAAAAAAAAAA… NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
9888192592	NC_000014.9:69397452:AAAAAAAAAAAAA… NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000014.9:69397452:AAAAAAAAAAAAA… NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4280174659	NC_000014.9:69397452::AAAAA	NC_000014.9:69397452:AAAAAAAAAAAAA… NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
9888192592	NC_000014.9:69397452:AAAAAAAAAAAAA… NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000014.9:69397452:AAAAAAAAAAAAA… NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4280174660, ss5296652727	NC_000014.9:69397452::AAAAAA	NC_000014.9:69397452:AAAAAAAAAAAAA… NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
9888192592	NC_000014.9:69397452:AAAAAAAAAAAAA… NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000014.9:69397452:AAAAAAAAAAAAA… NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4280174661	NC_000014.9:69397452::AAAAAAA	NC_000014.9:69397452:AAAAAAAAAAAAA… NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
9888192592	NC_000014.9:69397452:AAAAAAAAAAAAA… NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000014.9:69397452:AAAAAAAAAAAAA… NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(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 rs201254745

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

rs201254745