Name: rs527648471
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.

rs527648471

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:68291879-68291899 (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)₁₀ / del(A)₈ / del(A)₇ / del…
del(A)₁₀ / del(A)₈ / del(A)₇ / del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₆
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₁₀=0.0000 (0/1204, ALFA)
del(A)₈=0.0000 (0/1204, ALFA)
del(A)₇=0.0000 (0/1204, ALFA) (+ 8 more)
del(A)₅=0.0000 (0/1204, ALFA)
del(A)₄=0.0000 (0/1204, ALFA)
delAAA=0.0000 (0/1204, ALFA)
delAA=0.0000 (0/1204, ALFA)
delA=0.0000 (0/1204, ALFA)
dupA=0.0000 (0/1204, ALFA)
dupAA=0.0000 (0/1204, ALFA)
dupAAA=0.0000 (0/1204, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CNRIP1 : Intron Variant
LOC107985892 : 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	1204	AAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
European	Sub	1028	AAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
African	Sub	68	AAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African Others	Sub	0	AAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
African American	Sub	68	AAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Asian	Sub	2	AAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
East Asian	Sub	2	AAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	10	AAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 2	Sub	62	AAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	6	AAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other	Sub	28	AAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	1204	(A)₂₁=1.0000	del(A)₁₀=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator	European	Sub	1028	(A)₂₁=1.0000	del(A)₁₀=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator	African	Sub	68	(A)₂₁=1.00	del(A)₁₀=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	Latin American 2	Sub	62	(A)₂₁=1.00	del(A)₁₀=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	Other	Sub	28	(A)₂₁=1.00	del(A)₁₀=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	Latin American 1	Sub	10	(A)₂₁=1.0	del(A)₁₀=0.0, del(A)₈=0.0, del(A)₇=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0
Allele Frequency Aggregator	South Asian	Sub	6	(A)₂₁=1.0	del(A)₁₀=0.0, del(A)₈=0.0, del(A)₇=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0
Allele Frequency Aggregator	Asian	Sub	2	(A)₂₁=1.0	del(A)₁₀=0.0, del(A)₈=0.0, del(A)₇=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=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 2	NC_000002.12:g.68291890_68291899del
GRCh38.p14 chr 2	NC_000002.12:g.68291892_68291899del
GRCh38.p14 chr 2	NC_000002.12:g.68291893_68291899del
GRCh38.p14 chr 2	NC_000002.12:g.68291894_68291899del
GRCh38.p14 chr 2	NC_000002.12:g.68291895_68291899del
GRCh38.p14 chr 2	NC_000002.12:g.68291896_68291899del
GRCh38.p14 chr 2	NC_000002.12:g.68291897_68291899del
GRCh38.p14 chr 2	NC_000002.12:g.68291898_68291899del
GRCh38.p14 chr 2	NC_000002.12:g.68291899del
GRCh38.p14 chr 2	NC_000002.12:g.68291899dup
GRCh38.p14 chr 2	NC_000002.12:g.68291898_68291899dup
GRCh38.p14 chr 2	NC_000002.12:g.68291897_68291899dup
GRCh38.p14 chr 2	NC_000002.12:g.68291896_68291899dup
GRCh38.p14 chr 2	NC_000002.12:g.68291895_68291899dup
GRCh38.p14 chr 2	NC_000002.12:g.68291894_68291899dup
GRCh37.p13 chr 2	NC_000002.11:g.68519022_68519031del
GRCh37.p13 chr 2	NC_000002.11:g.68519024_68519031del
GRCh37.p13 chr 2	NC_000002.11:g.68519025_68519031del
GRCh37.p13 chr 2	NC_000002.11:g.68519026_68519031del
GRCh37.p13 chr 2	NC_000002.11:g.68519027_68519031del
GRCh37.p13 chr 2	NC_000002.11:g.68519028_68519031del
GRCh37.p13 chr 2	NC_000002.11:g.68519029_68519031del
GRCh37.p13 chr 2	NC_000002.11:g.68519030_68519031del
GRCh37.p13 chr 2	NC_000002.11:g.68519031del
GRCh37.p13 chr 2	NC_000002.11:g.68519031dup
GRCh37.p13 chr 2	NC_000002.11:g.68519030_68519031dup
GRCh37.p13 chr 2	NC_000002.11:g.68519029_68519031dup
GRCh37.p13 chr 2	NC_000002.11:g.68519028_68519031dup
GRCh37.p13 chr 2	NC_000002.11:g.68519027_68519031dup
GRCh37.p13 chr 2	NC_000002.11:g.68519026_68519031dup

Gene: CNRIP1, cannabinoid receptor interacting protein 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CNRIP1 transcript variant 2	NM_001111101.2:c.331-7404… NM_001111101.2:c.331-7404_331-7395del	N/A	Intron Variant
CNRIP1 transcript variant 3	NM_001371604.1:c.	N/A	Genic Downstream Transcript Variant
CNRIP1 transcript variant 4	NM_001371605.1:c.	N/A	Genic Downstream Transcript Variant
CNRIP1 transcript variant 5	NM_001371606.1:c.	N/A	Genic Downstream Transcript Variant
CNRIP1 transcript variant 6	NM_001371607.1:c.	N/A	Genic Downstream Transcript Variant
CNRIP1 transcript variant 7	NM_001371608.1:c.	N/A	Genic Downstream Transcript Variant
CNRIP1 transcript variant 1	NM_015463.3:c.	N/A	Genic Downstream Transcript Variant
CNRIP1 transcript variant 8	NR_163969.1:n.	N/A	Genic Downstream Transcript Variant
CNRIP1 transcript variant 9	NR_163970.1:n.	N/A	Genic Downstream Transcript Variant
CNRIP1 transcript variant 10	NR_163971.1:n.	N/A	Genic Downstream Transcript Variant

Gene: LOC107985892, uncharacterized LOC107985892 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC107985892 transcript variant X2	XR_001739526.2:n.	N/A	Intron Variant
LOC107985892 transcript variant X1	XR_001739527.2:n.	N/A	Intron 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)₁₀	del(A)₈	del(A)₇	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₆
GRCh38.p14 chr 2	NC_000002.12:g.68291879_68291899=	NC_000002.12:g.68291890_68291899del	NC_000002.12:g.68291892_68291899del	NC_000002.12:g.68291893_68291899del	NC_000002.12:g.68291894_68291899del	NC_000002.12:g.68291895_68291899del	NC_000002.12:g.68291896_68291899del	NC_000002.12:g.68291897_68291899del	NC_000002.12:g.68291898_68291899del	NC_000002.12:g.68291899del	NC_000002.12:g.68291899dup	NC_000002.12:g.68291898_68291899dup	NC_000002.12:g.68291897_68291899dup	NC_000002.12:g.68291896_68291899dup	NC_000002.12:g.68291895_68291899dup	NC_000002.12:g.68291894_68291899dup
GRCh37.p13 chr 2	NC_000002.11:g.68519011_68519031=	NC_000002.11:g.68519022_68519031del	NC_000002.11:g.68519024_68519031del	NC_000002.11:g.68519025_68519031del	NC_000002.11:g.68519026_68519031del	NC_000002.11:g.68519027_68519031del	NC_000002.11:g.68519028_68519031del	NC_000002.11:g.68519029_68519031del	NC_000002.11:g.68519030_68519031del	NC_000002.11:g.68519031del	NC_000002.11:g.68519031dup	NC_000002.11:g.68519030_68519031dup	NC_000002.11:g.68519029_68519031dup	NC_000002.11:g.68519028_68519031dup	NC_000002.11:g.68519027_68519031dup	NC_000002.11:g.68519026_68519031dup
CNRIP1 transcript variant CRIP1b	NM_001111101.1:c.331-7395=	NM_001111101.1:c.331-7404_331-7395del	NM_001111101.1:c.331-7402_331-7395del	NM_001111101.1:c.331-7401_331-7395del	NM_001111101.1:c.331-7400_331-7395del	NM_001111101.1:c.331-7399_331-7395del	NM_001111101.1:c.331-7398_331-7395del	NM_001111101.1:c.331-7397_331-7395del	NM_001111101.1:c.331-7396_331-7395del	NM_001111101.1:c.331-7395del	NM_001111101.1:c.331-7395dup	NM_001111101.1:c.331-7396_331-7395dup	NM_001111101.1:c.331-7397_331-7395dup	NM_001111101.1:c.331-7398_331-7395dup	NM_001111101.1:c.331-7399_331-7395dup	NM_001111101.1:c.331-7400_331-7395dup
CNRIP1 transcript variant 2	NM_001111101.2:c.331-7395=	NM_001111101.2:c.331-7404_331-7395del	NM_001111101.2:c.331-7402_331-7395del	NM_001111101.2:c.331-7401_331-7395del	NM_001111101.2:c.331-7400_331-7395del	NM_001111101.2:c.331-7399_331-7395del	NM_001111101.2:c.331-7398_331-7395del	NM_001111101.2:c.331-7397_331-7395del	NM_001111101.2:c.331-7396_331-7395del	NM_001111101.2:c.331-7395del	NM_001111101.2:c.331-7395dup	NM_001111101.2:c.331-7396_331-7395dup	NM_001111101.2:c.331-7397_331-7395dup	NM_001111101.2:c.331-7398_331-7395dup	NM_001111101.2:c.331-7399_331-7395dup	NM_001111101.2:c.331-7400_331-7395dup

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#.

42 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss82561382	Aug 21, 2014 (142)
2	MCHAISSO	ss3065746022	Nov 08, 2017 (151)
3	EVA_DECODE	ss3704114304	Jul 13, 2019 (153)
4	EVA_DECODE	ss3704114305	Jul 13, 2019 (153)
5	EVA_DECODE	ss3704114306	Jul 13, 2019 (153)
6	EVA_DECODE	ss3704114307	Jul 13, 2019 (153)
7	EVA_DECODE	ss3704114308	Jul 13, 2019 (153)
8	PACBIO	ss3783891358	Jul 13, 2019 (153)
9	PACBIO	ss3789473695	Jul 13, 2019 (153)
10	PACBIO	ss3794346638	Jul 13, 2019 (153)
11	EVA	ss3827036934	Apr 25, 2020 (154)
12	GNOMAD	ss4043288506	Apr 26, 2021 (155)
13	GNOMAD	ss4043288507	Apr 26, 2021 (155)
14	GNOMAD	ss4043288508	Apr 26, 2021 (155)
15	GNOMAD	ss4043288509	Apr 26, 2021 (155)
16	GNOMAD	ss4043288510	Apr 26, 2021 (155)
17	GNOMAD	ss4043288511	Apr 26, 2021 (155)
18	GNOMAD	ss4043288512	Apr 26, 2021 (155)
19	GNOMAD	ss4043288513	Apr 26, 2021 (155)
20	GNOMAD	ss4043288514	Apr 26, 2021 (155)
21	GNOMAD	ss4043288515	Apr 26, 2021 (155)
22	GNOMAD	ss4043288516	Apr 26, 2021 (155)
23	GNOMAD	ss4043288517	Apr 26, 2021 (155)
24	GNOMAD	ss4043288518	Apr 26, 2021 (155)
25	GNOMAD	ss4043288519	Apr 26, 2021 (155)
26	GNOMAD	ss4043288520	Apr 26, 2021 (155)
27	TOMMO_GENOMICS	ss5151878532	Apr 26, 2021 (155)
28	TOMMO_GENOMICS	ss5151878533	Apr 26, 2021 (155)
29	TOMMO_GENOMICS	ss5151878534	Apr 26, 2021 (155)
30	TOMMO_GENOMICS	ss5151878535	Apr 26, 2021 (155)
31	1000G_HIGH_COVERAGE	ss5248452958	Oct 12, 2022 (156)
32	1000G_HIGH_COVERAGE	ss5248452959	Oct 12, 2022 (156)
33	1000G_HIGH_COVERAGE	ss5248452961	Oct 12, 2022 (156)
34	1000G_HIGH_COVERAGE	ss5248452962	Oct 12, 2022 (156)
35	HUGCELL_USP	ss5448620389	Oct 12, 2022 (156)
36	HUGCELL_USP	ss5448620390	Oct 12, 2022 (156)
37	HUGCELL_USP	ss5448620391	Oct 12, 2022 (156)
38	HUGCELL_USP	ss5448620392	Oct 12, 2022 (156)
39	TOMMO_GENOMICS	ss5680650396	Oct 12, 2022 (156)
40	TOMMO_GENOMICS	ss5680650397	Oct 12, 2022 (156)
41	TOMMO_GENOMICS	ss5680650398	Oct 12, 2022 (156)
42	TOMMO_GENOMICS	ss5680650399	Oct 12, 2022 (156)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 61508272 (NC_000002.12:68291878::A 99/76904) Row 61508273 (NC_000002.12:68291878::AA 40/76896) Row 61508274 (NC_000002.12:68291878::AAA 5/76990)...	-	Apr 26, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 61508272 (NC_000002.12:68291878::A 99/76904) Row 61508273 (NC_000002.12:68291878::AA 40/76896) Row 61508274 (NC_000002.12:68291878::AAA 5/76990)...	-	Apr 26, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 61508272 (NC_000002.12:68291878::A 99/76904) Row 61508273 (NC_000002.12:68291878::AA 40/76896) Row 61508274 (NC_000002.12:68291878::AAA 5/76990)...	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 61508272 (NC_000002.12:68291878::A 99/76904) Row 61508273 (NC_000002.12:68291878::AA 40/76896) Row 61508274 (NC_000002.12:68291878::AAA 5/76990)...	-	Apr 26, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 61508272 (NC_000002.12:68291878::A 99/76904) Row 61508273 (NC_000002.12:68291878::AA 40/76896) Row 61508274 (NC_000002.12:68291878::AAA 5/76990)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 61508272 (NC_000002.12:68291878::A 99/76904) Row 61508273 (NC_000002.12:68291878::AA 40/76896) Row 61508274 (NC_000002.12:68291878::AAA 5/76990)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 61508272 (NC_000002.12:68291878::A 99/76904) Row 61508273 (NC_000002.12:68291878::AA 40/76896) Row 61508274 (NC_000002.12:68291878::AAA 5/76990)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 61508272 (NC_000002.12:68291878::A 99/76904) Row 61508273 (NC_000002.12:68291878::AA 40/76896) Row 61508274 (NC_000002.12:68291878::AAA 5/76990)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 61508272 (NC_000002.12:68291878::A 99/76904) Row 61508273 (NC_000002.12:68291878::AA 40/76896) Row 61508274 (NC_000002.12:68291878::AAA 5/76990)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 61508272 (NC_000002.12:68291878::A 99/76904) Row 61508273 (NC_000002.12:68291878::AA 40/76896) Row 61508274 (NC_000002.12:68291878::AAA 5/76990)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 61508272 (NC_000002.12:68291878::A 99/76904) Row 61508273 (NC_000002.12:68291878::AA 40/76896) Row 61508274 (NC_000002.12:68291878::AAA 5/76990)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 61508272 (NC_000002.12:68291878::A 99/76904) Row 61508273 (NC_000002.12:68291878::AA 40/76896) Row 61508274 (NC_000002.12:68291878::AAA 5/76990)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 61508272 (NC_000002.12:68291878::A 99/76904) Row 61508273 (NC_000002.12:68291878::AA 40/76896) Row 61508274 (NC_000002.12:68291878::AAA 5/76990)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 61508272 (NC_000002.12:68291878::A 99/76904) Row 61508273 (NC_000002.12:68291878::AA 40/76896) Row 61508274 (NC_000002.12:68291878::AAA 5/76990)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 61508272 (NC_000002.12:68291878::A 99/76904) Row 61508273 (NC_000002.12:68291878::AA 40/76896) Row 61508274 (NC_000002.12:68291878::AAA 5/76990)...	-	Apr 26, 2021 (155)
58	8.3KJPN Submission ignored due to conflicting rows: Row 9847839 (NC_000002.11:68519010:AA: 8774/16622) Row 9847840 (NC_000002.11:68519010:A: 620/16622) Row 9847841 (NC_000002.11:68519010:AAA: 12/16622)...	-	Apr 26, 2021 (155)
59	8.3KJPN Submission ignored due to conflicting rows: Row 9847839 (NC_000002.11:68519010:AA: 8774/16622) Row 9847840 (NC_000002.11:68519010:A: 620/16622) Row 9847841 (NC_000002.11:68519010:AAA: 12/16622)...	-	Apr 26, 2021 (155)
60	8.3KJPN Submission ignored due to conflicting rows: Row 9847839 (NC_000002.11:68519010:AA: 8774/16622) Row 9847840 (NC_000002.11:68519010:A: 620/16622) Row 9847841 (NC_000002.11:68519010:AAA: 12/16622)...	-	Apr 26, 2021 (155)
61	8.3KJPN Submission ignored due to conflicting rows: Row 9847839 (NC_000002.11:68519010:AA: 8774/16622) Row 9847840 (NC_000002.11:68519010:A: 620/16622) Row 9847841 (NC_000002.11:68519010:AAA: 12/16622)...	-	Apr 26, 2021 (155)
62	14KJPN Submission ignored due to conflicting rows: Row 14487500 (NC_000002.12:68291878:AA: 16873/28216) Row 14487501 (NC_000002.12:68291878:A: 1236/28216) Row 14487502 (NC_000002.12:68291878:AAA: 15/28216)...	-	Oct 12, 2022 (156)
63	14KJPN Submission ignored due to conflicting rows: Row 14487500 (NC_000002.12:68291878:AA: 16873/28216) Row 14487501 (NC_000002.12:68291878:A: 1236/28216) Row 14487502 (NC_000002.12:68291878:AAA: 15/28216)...	-	Oct 12, 2022 (156)
64	14KJPN Submission ignored due to conflicting rows: Row 14487500 (NC_000002.12:68291878:AA: 16873/28216) Row 14487501 (NC_000002.12:68291878:A: 1236/28216) Row 14487502 (NC_000002.12:68291878:AAA: 15/28216)...	-	Oct 12, 2022 (156)
65	14KJPN Submission ignored due to conflicting rows: Row 14487500 (NC_000002.12:68291878:AA: 16873/28216) Row 14487501 (NC_000002.12:68291878:A: 1236/28216) Row 14487502 (NC_000002.12:68291878:AAA: 15/28216)...	-	Oct 12, 2022 (156)
66	ALFA	NC_000002.12 - 68291879	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
ss4043288520	NC_000002.12:68291878:AAAAAAAAAA:	NC_000002.12:68291878:AAAAAAAAAAAA… NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
12572825342	NC_000002.12:68291878:AAAAAAAAAAAA… NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000002.12:68291878:AAAAAAAAAAAA… NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss4043288519	NC_000002.12:68291878:AAAAAAAA:	NC_000002.12:68291878:AAAAAAAAAAAA… NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
12572825342	NC_000002.12:68291878:AAAAAAAAAAAA… NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000002.12:68291878:AAAAAAAAAAAA… NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4043288518	NC_000002.12:68291878:AAAAAAA:	NC_000002.12:68291878:AAAAAAAAAAAA… NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
12572825342	NC_000002.12:68291878:AAAAAAAAAAAA… NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000002.12:68291878:AAAAAAAAAAAA… NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4043288517	NC_000002.12:68291878:AAAAAA:	NC_000002.12:68291878:AAAAAAAAAAAA… NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3704114308, ss4043288516	NC_000002.12:68291878:AAAAA:	NC_000002.12:68291878:AAAAAAAAAAAA… NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
12572825342	NC_000002.12:68291878:AAAAAAAAAAAA… NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000002.12:68291878:AAAAAAAAAAAA… NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4043288515	NC_000002.12:68291878:AAAA:	NC_000002.12:68291878:AAAAAAAAAAAA… NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
12572825342	NC_000002.12:68291878:AAAAAAAAAAAA… NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000002.12:68291878:AAAAAAAAAAAA… NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3704114307	NC_000002.12:68291879:AAAA:	NC_000002.12:68291878:AAAAAAAAAAAA… NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3783891358, ss5151878534	NC_000002.11:68519010:AAA:	NC_000002.12:68291878:AAAAAAAAAAAA… NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4043288514, ss5248452961, ss5448620390, ss5680650398	NC_000002.12:68291878:AAA:	NC_000002.12:68291878:AAAAAAAAAAAA… NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
12572825342	NC_000002.12:68291878:AAAAAAAAAAAA… NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000002.12:68291878:AAAAAAAAAAAA… NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3704114306	NC_000002.12:68291880:AAA:	NC_000002.12:68291878:AAAAAAAAAAAA… NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3789473695, ss3794346638, ss3827036934, ss5151878532	NC_000002.11:68519010:AA:	NC_000002.12:68291878:AAAAAAAAAAAA… NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4043288513, ss5248452958, ss5448620389, ss5680650396	NC_000002.12:68291878:AA:	NC_000002.12:68291878:AAAAAAAAAAAA… NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
12572825342	NC_000002.12:68291878:AAAAAAAAAAAA… NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000002.12:68291878:AAAAAAAAAAAA… NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3704114305	NC_000002.12:68291881:AA:	NC_000002.12:68291878:AAAAAAAAAAAA… NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss82561382	NC_000002.9:68430681:A:	NC_000002.12:68291878:AAAAAAAAAAAA… NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss5151878533	NC_000002.11:68519010:A:	NC_000002.12:68291878:AAAAAAAAAAAA… NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3065746022, ss4043288512, ss5248452959, ss5448620392, ss5680650397	NC_000002.12:68291878:A:	NC_000002.12:68291878:AAAAAAAAAAAA… NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
12572825342	NC_000002.12:68291878:AAAAAAAAAAAA… NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000002.12:68291878:AAAAAAAAAAAA… NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3704114304	NC_000002.12:68291882:A:	NC_000002.12:68291878:AAAAAAAAAAAA… NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss5151878535	NC_000002.11:68519010::A	NC_000002.12:68291878:AAAAAAAAAAAA… NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4043288506, ss5248452962, ss5448620391, ss5680650399	NC_000002.12:68291878::A	NC_000002.12:68291878:AAAAAAAAAAAA… NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
12572825342	NC_000002.12:68291878:AAAAAAAAAAAA… NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:68291878:AAAAAAAAAAAA… NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4043288507	NC_000002.12:68291878::AA	NC_000002.12:68291878:AAAAAAAAAAAA… NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
12572825342	NC_000002.12:68291878:AAAAAAAAAAAA… NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:68291878:AAAAAAAAAAAA… NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4043288508	NC_000002.12:68291878::AAA	NC_000002.12:68291878:AAAAAAAAAAAA… NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
12572825342	NC_000002.12:68291878:AAAAAAAAAAAA… NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:68291878:AAAAAAAAAAAA… NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4043288509	NC_000002.12:68291878::AAAA	NC_000002.12:68291878:AAAAAAAAAAAA… NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4043288510	NC_000002.12:68291878::AAAAA	NC_000002.12:68291878:AAAAAAAAAAAA… NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4043288511	NC_000002.12:68291878::AAAAAA	NC_000002.12:68291878:AAAAAAAAAAAA… NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(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 rs527648471

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

rs527648471