Name: rs55782274
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.

rs55782274

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:32745558-32745578 (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(A)₁₂ / del(A)₈ / del(A)₅ / del…
del(A)₁₂ / del(A)₈ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₁₃
Variation Type: Indel Insertion and Deletion
Frequency: delA=0.4893 (2292/4684, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: KIAA1522 : 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	4684	AAAAAAAAAAAAAAAAAAAAA=0.5049	AAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0049, AAAAAAAAAAAAAAAAAAAA=0.4893, AAAAAAAAAAAAAAAAAAAAAA=0.0009	0.408031	0.388169	0.2038	32
European	Sub	4372	AAAAAAAAAAAAAAAAAAAAA=0.4707	AAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0053, AAAAAAAAAAAAAAAAAAAA=0.5231, AAAAAAAAAAAAAAAAAAAAAA=0.0009	0.366667	0.415278	0.218056	32
African	Sub	274	AAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	16	AAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	258	AAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	8	AAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
East Asian	Sub	6	AAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other Asian	Sub	2	AAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	8	AAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 2	Sub	8	AAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
South Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other	Sub	14	AAAAAAAAAAAAAAAAAAAAA=0.64	AAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.36, AAAAAAAAAAAAAAAAAAAAAA=0.00	0.571429	0.285714	0.142857	2

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	4684	(A)₂₁=0.5049	del(A)₁₂=0.0000, del(A)₈=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0049, delA=0.4893, dupA=0.0009
Allele Frequency Aggregator	European	Sub	4372	(A)₂₁=0.4707	del(A)₁₂=0.0000, del(A)₈=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0053, delA=0.5231, dupA=0.0009
Allele Frequency Aggregator	African	Sub	274	(A)₂₁=1.000	del(A)₁₂=0.000, del(A)₈=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000
Allele Frequency Aggregator	Other	Sub	14	(A)₂₁=0.64	del(A)₁₂=0.00, del(A)₈=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.36, dupA=0.00
Allele Frequency Aggregator	Latin American 1	Sub	8	(A)₂₁=1.0	del(A)₁₂=0.0, del(A)₈=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0
Allele Frequency Aggregator	Latin American 2	Sub	8	(A)₂₁=1.0	del(A)₁₂=0.0, del(A)₈=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0
Allele Frequency Aggregator	Asian	Sub	8	(A)₂₁=1.0	del(A)₁₂=0.0, del(A)₈=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0
Allele Frequency Aggregator	South Asian	Sub	0	(A)₂₁=0	del(A)₁₂=0, del(A)₈=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=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 1	NC_000001.11:g.32745567_32745578del
GRCh38.p14 chr 1	NC_000001.11:g.32745571_32745578del
GRCh38.p14 chr 1	NC_000001.11:g.32745574_32745578del
GRCh38.p14 chr 1	NC_000001.11:g.32745575_32745578del
GRCh38.p14 chr 1	NC_000001.11:g.32745576_32745578del
GRCh38.p14 chr 1	NC_000001.11:g.32745577_32745578del
GRCh38.p14 chr 1	NC_000001.11:g.32745578del
GRCh38.p14 chr 1	NC_000001.11:g.32745578dup
GRCh38.p14 chr 1	NC_000001.11:g.32745577_32745578dup
GRCh38.p14 chr 1	NC_000001.11:g.32745576_32745578dup
GRCh38.p14 chr 1	NC_000001.11:g.32745566_32745578dup
GRCh37.p13 chr 1	NC_000001.10:g.33211168_33211179del
GRCh37.p13 chr 1	NC_000001.10:g.33211172_33211179del
GRCh37.p13 chr 1	NC_000001.10:g.33211175_33211179del
GRCh37.p13 chr 1	NC_000001.10:g.33211176_33211179del
GRCh37.p13 chr 1	NC_000001.10:g.33211177_33211179del
GRCh37.p13 chr 1	NC_000001.10:g.33211178_33211179del
GRCh37.p13 chr 1	NC_000001.10:g.33211179del
GRCh37.p13 chr 1	NC_000001.10:g.33211179dup
GRCh37.p13 chr 1	NC_000001.10:g.33211178_33211179dup
GRCh37.p13 chr 1	NC_000001.10:g.33211177_33211179dup
GRCh37.p13 chr 1	NC_000001.10:g.33211167_33211179dup

Gene: KIAA1522, KIAA1522 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NHSL3 transcript variant 1	NM_020888.3:c.235+3378_23… NM_020888.3:c.235+3378_235+3389del	N/A	Intron Variant
NHSL3 transcript variant 2	NM_001198972.2:c.	N/A	Genic Upstream Transcript Variant
NHSL3 transcript variant 3	NM_001198973.2:c.	N/A	Genic Upstream Transcript Variant
NHSL3 transcript variant 4	NM_001369553.1: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	(A)₂₁=	del(A)₁₂	del(A)₈	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₁₃
GRCh38.p14 chr 1	NC_000001.11:g.32745558_32745578=	NC_000001.11:g.32745567_32745578del	NC_000001.11:g.32745571_32745578del	NC_000001.11:g.32745574_32745578del	NC_000001.11:g.32745575_32745578del	NC_000001.11:g.32745576_32745578del	NC_000001.11:g.32745577_32745578del	NC_000001.11:g.32745578del	NC_000001.11:g.32745578dup	NC_000001.11:g.32745577_32745578dup	NC_000001.11:g.32745576_32745578dup	NC_000001.11:g.32745566_32745578dup
GRCh37.p13 chr 1	NC_000001.10:g.33211159_33211179=	NC_000001.10:g.33211168_33211179del	NC_000001.10:g.33211172_33211179del	NC_000001.10:g.33211175_33211179del	NC_000001.10:g.33211176_33211179del	NC_000001.10:g.33211177_33211179del	NC_000001.10:g.33211178_33211179del	NC_000001.10:g.33211179del	NC_000001.10:g.33211179dup	NC_000001.10:g.33211178_33211179dup	NC_000001.10:g.33211177_33211179dup	NC_000001.10:g.33211167_33211179dup
KIAA1522 transcript variant 1	NM_020888.2:c.235+3369=	NM_020888.2:c.235+3378_235+3389del	NM_020888.2:c.235+3382_235+3389del	NM_020888.2:c.235+3385_235+3389del	NM_020888.2:c.235+3386_235+3389del	NM_020888.2:c.235+3387_235+3389del	NM_020888.2:c.235+3388_235+3389del	NM_020888.2:c.235+3389del	NM_020888.2:c.235+3389dup	NM_020888.2:c.235+3388_235+3389dup	NM_020888.2:c.235+3387_235+3389dup	NM_020888.2:c.235+3377_235+3389dup
NHSL3 transcript variant 1	NM_020888.3:c.235+3369=	NM_020888.3:c.235+3378_235+3389del	NM_020888.3:c.235+3382_235+3389del	NM_020888.3:c.235+3385_235+3389del	NM_020888.3:c.235+3386_235+3389del	NM_020888.3:c.235+3387_235+3389del	NM_020888.3:c.235+3388_235+3389del	NM_020888.3:c.235+3389del	NM_020888.3:c.235+3389dup	NM_020888.3:c.235+3388_235+3389dup	NM_020888.3:c.235+3387_235+3389dup	NM_020888.3:c.235+3377_235+3389dup
KIAA1522 transcript variant X1	XM_005271073.1:c.-475+3369=	XM_005271073.1:c.-475+3378_-475+3389del	XM_005271073.1:c.-475+3382_-475+3389del	XM_005271073.1:c.-475+3385_-475+3389del	XM_005271073.1:c.-475+3386_-475+3389del	XM_005271073.1:c.-475+3387_-475+3389del	XM_005271073.1:c.-475+3388_-475+3389del	XM_005271073.1:c.-475+3389del	XM_005271073.1:c.-475+3389dup	XM_005271073.1:c.-475+3388_-475+3389dup	XM_005271073.1:c.-475+3387_-475+3389dup	XM_005271073.1:c.-475+3377_-475+3389dup
KIAA1522 transcript variant X2	XM_005271074.1:c.235+3369=	XM_005271074.1:c.235+3378_235+3389del	XM_005271074.1:c.235+3382_235+3389del	XM_005271074.1:c.235+3385_235+3389del	XM_005271074.1:c.235+3386_235+3389del	XM_005271074.1:c.235+3387_235+3389del	XM_005271074.1:c.235+3388_235+3389del	XM_005271074.1:c.235+3389del	XM_005271074.1:c.235+3389dup	XM_005271074.1:c.235+3388_235+3389dup	XM_005271074.1:c.235+3387_235+3389dup	XM_005271074.1:c.235+3377_235+3389dup

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#.

48 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss77840737	Dec 06, 2007 (129)
2	HGSV	ss83731406	Dec 14, 2007 (130)
3	HUMANGENOME_JCVI	ss95225725	Feb 03, 2009 (130)
4	PJP	ss294572916	May 09, 2011 (137)
5	PJP	ss294572917	May 09, 2011 (134)
6	EVA_UK10K_TWINSUK	ss1700459088	Apr 01, 2015 (144)
7	EVA_UK10K_ALSPAC	ss1700459193	Apr 01, 2015 (144)
8	EVA_UK10K_TWINSUK	ss1709917152	Apr 01, 2015 (144)
9	EVA_UK10K_TWINSUK	ss1709917154	Apr 01, 2015 (144)
10	EVA_UK10K_ALSPAC	ss1709919105	Apr 01, 2015 (144)
11	EVA_UK10K_ALSPAC	ss1709919109	Apr 01, 2015 (144)
12	SWEGEN	ss2986574044	Nov 08, 2017 (151)
13	MCHAISSO	ss3063583138	Nov 08, 2017 (151)
14	MCHAISSO	ss3064396441	Nov 08, 2017 (151)
15	MCHAISSO	ss3064396442	Nov 08, 2017 (151)
16	EVA_DECODE	ss3686477599	Jul 12, 2019 (153)
17	EVA_DECODE	ss3686477600	Jul 12, 2019 (153)
18	EVA_DECODE	ss3686477601	Jul 12, 2019 (153)
19	PACBIO	ss3789037086	Jul 12, 2019 (153)
20	PACBIO	ss3793909703	Jul 12, 2019 (153)
21	EVA	ss3826102355	Apr 25, 2020 (154)
22	GNOMAD	ss3991010982	Apr 25, 2021 (155)
23	GNOMAD	ss3991010983	Apr 25, 2021 (155)
24	GNOMAD	ss3991010984	Apr 25, 2021 (155)
25	GNOMAD	ss3991010985	Apr 25, 2021 (155)
26	GNOMAD	ss3991010986	Apr 25, 2021 (155)
27	GNOMAD	ss3991010987	Apr 25, 2021 (155)
28	GNOMAD	ss3991010988	Apr 25, 2021 (155)
29	GNOMAD	ss3991010989	Apr 25, 2021 (155)
30	GNOMAD	ss3991010990	Apr 25, 2021 (155)
31	TOMMO_GENOMICS	ss5143246645	Apr 25, 2021 (155)
32	TOMMO_GENOMICS	ss5143246646	Apr 25, 2021 (155)
33	TOMMO_GENOMICS	ss5143246647	Apr 25, 2021 (155)
34	TOMMO_GENOMICS	ss5143246648	Apr 25, 2021 (155)
35	1000G_HIGH_COVERAGE	ss5241744851	Oct 17, 2022 (156)
36	1000G_HIGH_COVERAGE	ss5241744852	Oct 17, 2022 (156)
37	1000G_HIGH_COVERAGE	ss5241744853	Oct 17, 2022 (156)
38	HUGCELL_USP	ss5442867683	Oct 17, 2022 (156)
39	HUGCELL_USP	ss5442867684	Oct 17, 2022 (156)
40	HUGCELL_USP	ss5442867685	Oct 17, 2022 (156)
41	TOMMO_GENOMICS	ss5667794430	Oct 17, 2022 (156)
42	TOMMO_GENOMICS	ss5667794431	Oct 17, 2022 (156)
43	TOMMO_GENOMICS	ss5667794433	Oct 17, 2022 (156)
44	TOMMO_GENOMICS	ss5667794434	Oct 17, 2022 (156)
45	YY_MCH	ss5800467500	Oct 17, 2022 (156)
46	EVA	ss5831759983	Oct 17, 2022 (156)
47	EVA	ss5831759984	Oct 17, 2022 (156)
48	EVA	ss5831759985	Oct 17, 2022 (156)
49	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 531192 (NC_000001.10:33211159:A: 2525/3854) Row 531193 (NC_000001.10:33211158:AAA: 528/3854)	-	Oct 11, 2018 (152)
50	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 531192 (NC_000001.10:33211159:A: 2525/3854) Row 531193 (NC_000001.10:33211158:AAA: 528/3854)	-	Oct 11, 2018 (152)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 6984892 (NC_000001.11:32745557::A 431/83010) Row 6984893 (NC_000001.11:32745557::AA 1/83042) Row 6984894 (NC_000001.11:32745557::AAA 1/83044)...	-	Apr 25, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 6984892 (NC_000001.11:32745557::A 431/83010) Row 6984893 (NC_000001.11:32745557::AA 1/83042) Row 6984894 (NC_000001.11:32745557::AAA 1/83044)...	-	Apr 25, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 6984892 (NC_000001.11:32745557::A 431/83010) Row 6984893 (NC_000001.11:32745557::AA 1/83042) Row 6984894 (NC_000001.11:32745557::AAA 1/83044)...	-	Apr 25, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 6984892 (NC_000001.11:32745557::A 431/83010) Row 6984893 (NC_000001.11:32745557::AA 1/83042) Row 6984894 (NC_000001.11:32745557::AAA 1/83044)...	-	Apr 25, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 6984892 (NC_000001.11:32745557::A 431/83010) Row 6984893 (NC_000001.11:32745557::AA 1/83042) Row 6984894 (NC_000001.11:32745557::AAA 1/83044)...	-	Apr 25, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 6984892 (NC_000001.11:32745557::A 431/83010) Row 6984893 (NC_000001.11:32745557::AA 1/83042) Row 6984894 (NC_000001.11:32745557::AAA 1/83044)...	-	Apr 25, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 6984892 (NC_000001.11:32745557::A 431/83010) Row 6984893 (NC_000001.11:32745557::AA 1/83042) Row 6984894 (NC_000001.11:32745557::AAA 1/83044)...	-	Apr 25, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 6984892 (NC_000001.11:32745557::A 431/83010) Row 6984893 (NC_000001.11:32745557::AA 1/83042) Row 6984894 (NC_000001.11:32745557::AAA 1/83044)...	-	Apr 25, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 6984892 (NC_000001.11:32745557::A 431/83010) Row 6984893 (NC_000001.11:32745557::AA 1/83042) Row 6984894 (NC_000001.11:32745557::AAA 1/83044)...	-	Apr 25, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 6984892 (NC_000001.11:32745557::A 431/83010) Row 6984893 (NC_000001.11:32745557::AA 1/83042) Row 6984894 (NC_000001.11:32745557::AAA 1/83044)...	-	Apr 25, 2021 (155)
61	8.3KJPN Submission ignored due to conflicting rows: Row 1215952 (NC_000001.10:33211158:A: 10864/16550) Row 1215953 (NC_000001.10:33211158:AA: 109/16550) Row 1215954 (NC_000001.10:33211158::A 4/16550)...	-	Apr 25, 2021 (155)
62	8.3KJPN Submission ignored due to conflicting rows: Row 1215952 (NC_000001.10:33211158:A: 10864/16550) Row 1215953 (NC_000001.10:33211158:AA: 109/16550) Row 1215954 (NC_000001.10:33211158::A 4/16550)...	-	Apr 25, 2021 (155)
63	8.3KJPN Submission ignored due to conflicting rows: Row 1215952 (NC_000001.10:33211158:A: 10864/16550) Row 1215953 (NC_000001.10:33211158:AA: 109/16550) Row 1215954 (NC_000001.10:33211158::A 4/16550)...	-	Apr 25, 2021 (155)
64	8.3KJPN Submission ignored due to conflicting rows: Row 1215952 (NC_000001.10:33211158:A: 10864/16550) Row 1215953 (NC_000001.10:33211158:AA: 109/16550) Row 1215954 (NC_000001.10:33211158::A 4/16550)...	-	Apr 25, 2021 (155)
65	14KJPN Submission ignored due to conflicting rows: Row 1631534 (NC_000001.11:32745557:A: 19541/27976) Row 1631535 (NC_000001.11:32745557:AA: 192/27976) Row 1631537 (NC_000001.11:32745557::A 6/27976)...	-	Oct 17, 2022 (156)
66	14KJPN Submission ignored due to conflicting rows: Row 1631534 (NC_000001.11:32745557:A: 19541/27976) Row 1631535 (NC_000001.11:32745557:AA: 192/27976) Row 1631537 (NC_000001.11:32745557::A 6/27976)...	-	Oct 17, 2022 (156)
67	14KJPN Submission ignored due to conflicting rows: Row 1631534 (NC_000001.11:32745557:A: 19541/27976) Row 1631535 (NC_000001.11:32745557:AA: 192/27976) Row 1631537 (NC_000001.11:32745557::A 6/27976)...	-	Oct 17, 2022 (156)
68	14KJPN Submission ignored due to conflicting rows: Row 1631534 (NC_000001.11:32745557:A: 19541/27976) Row 1631535 (NC_000001.11:32745557:AA: 192/27976) Row 1631537 (NC_000001.11:32745557::A 6/27976)...	-	Oct 17, 2022 (156)
69	UK 10K study - Twins Submission ignored due to conflicting rows: Row 531192 (NC_000001.10:33211159:A: 2364/3708) Row 531193 (NC_000001.10:33211158:AAA: 508/3708)	-	Oct 11, 2018 (152)
70	UK 10K study - Twins Submission ignored due to conflicting rows: Row 531192 (NC_000001.10:33211159:A: 2364/3708) Row 531193 (NC_000001.10:33211158:AAA: 508/3708)	-	Oct 11, 2018 (152)
71	UK 10K study - Twins Submission ignored due to conflicting rows: Row 531192 (NC_000001.10:33211159:AA: 2364/3708) Row 531193 (NC_000001.10:33211158:AAA: 508/3708) Row 531194 (NC_000001.10:33211160:A: 818/3708)	-	Apr 25, 2020 (154)
72	ALFA	NC_000001.11 - 32745558	Apr 25, 2021 (155)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs56887423	May 23, 2008 (130)
rs67427930	May 11, 2012 (137)
rs67427931	Feb 27, 2009 (130)
rs67427932	Feb 27, 2009 (130)
rs71927637	May 11, 2012 (137)
rs72297000	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3991010990	NC_000001.11:32745557:AAAAAAAAAAAA:	NC_000001.11:32745557:AAAAAAAAAAAA… NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
9544542172	NC_000001.11:32745557:AAAAAAAAAAAA… NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	NC_000001.11:32745557:AAAAAAAAAAAA… NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
9544542172	NC_000001.11:32745557:AAAAAAAAAAAA… NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000001.11:32745557:AAAAAAAAAAAA… NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3991010989	NC_000001.11:32745557:AAAAA:	NC_000001.11:32745557:AAAAAAAAAAAA… NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
9544542172	NC_000001.11:32745557:AAAAAAAAAAAA… NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000001.11:32745557:AAAAAAAAAAAA… NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3991010988	NC_000001.11:32745557:AAAA:	NC_000001.11:32745557:AAAAAAAAAAAA… NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
9544542172	NC_000001.11:32745557:AAAAAAAAAAAA… NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000001.11:32745557:AAAAAAAAAAAA… NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss1700459088, ss1700459193, ss5831759985	NC_000001.10:33211158:AAA:	NC_000001.11:32745557:AAAAAAAAAAAA… NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3686477601, ss3991010987	NC_000001.11:32745557:AAA:	NC_000001.11:32745557:AAAAAAAAAAAA… NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
9544542172	NC_000001.11:32745557:AAAAAAAAAAAA… NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000001.11:32745557:AAAAAAAAAAAA… NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss2986574044, ss5143246646, ss5831759983	NC_000001.10:33211158:AA:	NC_000001.11:32745557:AAAAAAAAAAAA… NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss1709917152, ss1709919105	NC_000001.10:33211159:AA:	NC_000001.11:32745557:AAAAAAAAAAAA… NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3064396442, ss3991010986, ss5241744852, ss5442867684, ss5667794431	NC_000001.11:32745557:AA:	NC_000001.11:32745557:AAAAAAAAAAAA… NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
9544542172	NC_000001.11:32745557:AAAAAAAAAAAA… NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000001.11:32745557:AAAAAAAAAAAA… NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3686477600	NC_000001.11:32745558:AA:	NC_000001.11:32745557:AAAAAAAAAAAA… NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss77840737, ss83731406	NC_000001.8:32880271:A:	NC_000001.11:32745557:AAAAAAAAAAAA… NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss294572916	NC_000001.9:32983745:A:	NC_000001.11:32745557:AAAAAAAAAAAA… NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss294572917	NC_000001.9:32983765:A:	NC_000001.11:32745557:AAAAAAAAAAAA… NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3789037086, ss3793909703, ss3826102355, ss5143246645, ss5831759984	NC_000001.10:33211158:A:	NC_000001.11:32745557:AAAAAAAAAAAA… NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
	NC_000001.10:33211159:A:	NC_000001.11:32745557:AAAAAAAAAAAA… NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss1709917154, ss1709919109	NC_000001.10:33211160:A:	NC_000001.11:32745557:AAAAAAAAAAAA… NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3063583138, ss3064396441, ss5241744851, ss5442867683, ss5667794430, ss5800467500	NC_000001.11:32745557:A:	NC_000001.11:32745557:AAAAAAAAAAAA… NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
9544542172	NC_000001.11:32745557:AAAAAAAAAAAA… NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000001.11:32745557:AAAAAAAAAAAA… NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3686477599	NC_000001.11:32745559:A:	NC_000001.11:32745557:AAAAAAAAAAAA… NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss95225725	NT_032977.9:3183096:A:	NC_000001.11:32745557:AAAAAAAAAAAA… NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss5143246647	NC_000001.10:33211158::A	NC_000001.11:32745557:AAAAAAAAAAAA… NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3991010982, ss5241744853, ss5442867685, ss5667794433	NC_000001.11:32745557::A	NC_000001.11:32745557:AAAAAAAAAAAA… NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
9544542172	NC_000001.11:32745557:AAAAAAAAAAAA… NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:32745557:AAAAAAAAAAAA… NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3991010983	NC_000001.11:32745557::AA	NC_000001.11:32745557:AAAAAAAAAAAA… NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5143246648	NC_000001.10:33211158::AAA	NC_000001.11:32745557:AAAAAAAAAAAA… NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3991010984, ss5667794434	NC_000001.11:32745557::AAA	NC_000001.11:32745557:AAAAAAAAAAAA… NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3991010985	NC_000001.11:32745557::AAAAAAAAAAA… NC_000001.11:32745557::AAAAAAAAAAAAA	NC_000001.11:32745557:AAAAAAAAAAAA… NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(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 rs55782274

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

rs55782274