Name: rs71070822
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.

rs71070822

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:54496993-54497009 (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)₁₄ / del(A)₁₂ / del(A)₉ / de…
del(A)₁₄ / del(A)₁₂ / del(A)₉ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₉ / dup(A)₁₀ / ins(A)₂₂
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₁₄=0.0000 (0/4766, ALFA)
del(A)₁₂=0.0000 (0/4766, ALFA)
del(A)₉=0.0000 (0/4766, ALFA) (+ 4 more)
delAA=0.0000 (0/4766, ALFA)
delA=0.0000 (0/4766, ALFA)
dupA=0.0000 (0/4766, ALFA)
dupAA=0.0000 (0/4766, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: NCKAP1L : 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	HWEP
Total	Global	4766	AAAAAAAAAAAAAAAAA=1.0000	AAA=0.0000, AAAAA=0.0000, AAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
European	Sub	2464	AAAAAAAAAAAAAAAAA=1.0000	AAA=0.0000, AAAAA=0.0000, AAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African	Sub	1636	AAAAAAAAAAAAAAAAA=1.0000	AAA=0.0000, AAAAA=0.0000, AAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African Others	Sub	78	AAAAAAAAAAAAAAAAA=1.00	AAA=0.00, AAAAA=0.00, AAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
African American	Sub	1558	AAAAAAAAAAAAAAAAA=1.0000	AAA=0.0000, AAAAA=0.0000, AAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
Asian	Sub	84	AAAAAAAAAAAAAAAAA=1.00	AAA=0.00, AAAAA=0.00, AAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
East Asian	Sub	68	AAAAAAAAAAAAAAAAA=1.00	AAA=0.00, AAAAA=0.00, AAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other Asian	Sub	16	AAAAAAAAAAAAAAAAA=1.00	AAA=0.00, AAAAA=0.00, AAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 1	Sub	64	AAAAAAAAAAAAAAAAA=1.00	AAA=0.00, AAAAA=0.00, AAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 2	Sub	258	AAAAAAAAAAAAAAAAA=1.000	AAA=0.000, AAAAA=0.000, AAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
South Asian	Sub	50	AAAAAAAAAAAAAAAAA=1.00	AAA=0.00, AAAAA=0.00, AAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other	Sub	210	AAAAAAAAAAAAAAAAA=1.000	AAA=0.000, AAAAA=0.000, AAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000	1.0	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	4766	(A)₁₇=1.0000	del(A)₁₄=0.0000, del(A)₁₂=0.0000, del(A)₉=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000
Allele Frequency Aggregator	European	Sub	2464	(A)₁₇=1.0000	del(A)₁₄=0.0000, del(A)₁₂=0.0000, del(A)₉=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000
Allele Frequency Aggregator	African	Sub	1636	(A)₁₇=1.0000	del(A)₁₄=0.0000, del(A)₁₂=0.0000, del(A)₉=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	258	(A)₁₇=1.000	del(A)₁₄=0.000, del(A)₁₂=0.000, del(A)₉=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator	Other	Sub	210	(A)₁₇=1.000	del(A)₁₄=0.000, del(A)₁₂=0.000, del(A)₉=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator	Asian	Sub	84	(A)₁₇=1.00	del(A)₁₄=0.00, del(A)₁₂=0.00, del(A)₉=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator	Latin American 1	Sub	64	(A)₁₇=1.00	del(A)₁₄=0.00, del(A)₁₂=0.00, del(A)₉=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator	South Asian	Sub	50	(A)₁₇=1.00	del(A)₁₄=0.00, del(A)₁₂=0.00, del(A)₉=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00

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 12	NC_000012.12:g.54496996_54497009del
GRCh38.p14 chr 12	NC_000012.12:g.54496998_54497009del
GRCh38.p14 chr 12	NC_000012.12:g.54497001_54497009del
GRCh38.p14 chr 12	NC_000012.12:g.54497006_54497009del
GRCh38.p14 chr 12	NC_000012.12:g.54497007_54497009del
GRCh38.p14 chr 12	NC_000012.12:g.54497008_54497009del
GRCh38.p14 chr 12	NC_000012.12:g.54497009del
GRCh38.p14 chr 12	NC_000012.12:g.54497009dup
GRCh38.p14 chr 12	NC_000012.12:g.54497008_54497009dup
GRCh38.p14 chr 12	NC_000012.12:g.54497007_54497009dup
GRCh38.p14 chr 12	NC_000012.12:g.54497006_54497009dup
GRCh38.p14 chr 12	NC_000012.12:g.54497001_54497009dup
GRCh38.p14 chr 12	NC_000012.12:g.54497000_54497009dup
GRCh38.p14 chr 12	NC_000012.12:g.54497009_54497010insAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 12	NC_000012.11:g.54890780_54890793del
GRCh37.p13 chr 12	NC_000012.11:g.54890782_54890793del
GRCh37.p13 chr 12	NC_000012.11:g.54890785_54890793del
GRCh37.p13 chr 12	NC_000012.11:g.54890790_54890793del
GRCh37.p13 chr 12	NC_000012.11:g.54890791_54890793del
GRCh37.p13 chr 12	NC_000012.11:g.54890792_54890793del
GRCh37.p13 chr 12	NC_000012.11:g.54890793del
GRCh37.p13 chr 12	NC_000012.11:g.54890793dup
GRCh37.p13 chr 12	NC_000012.11:g.54890792_54890793dup
GRCh37.p13 chr 12	NC_000012.11:g.54890791_54890793dup
GRCh37.p13 chr 12	NC_000012.11:g.54890790_54890793dup
GRCh37.p13 chr 12	NC_000012.11:g.54890785_54890793dup
GRCh37.p13 chr 12	NC_000012.11:g.54890784_54890793dup
GRCh37.p13 chr 12	NC_000012.11:g.54890793_54890794insAAAAAAAAAAAAAAAAAAAAAA

Gene: NCKAP1L, NCK associated protein 1 like (plus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
NCKAP1L transcript variant 2	NM_001184976.2:c.	N/A	Upstream Transcript Variant
NCKAP1L transcript variant 1	NM_005337.5: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	(A)₁₇=	del(A)₁₄	del(A)₁₂	del(A)₉	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₉	dup(A)₁₀	ins(A)₂₂
GRCh38.p14 chr 12	NC_000012.12:g.54496993_54497009=	NC_000012.12:g.54496996_54497009del	NC_000012.12:g.54496998_54497009del	NC_000012.12:g.54497001_54497009del	NC_000012.12:g.54497006_54497009del	NC_000012.12:g.54497007_54497009del	NC_000012.12:g.54497008_54497009del	NC_000012.12:g.54497009del	NC_000012.12:g.54497009dup	NC_000012.12:g.54497008_54497009dup	NC_000012.12:g.54497007_54497009dup	NC_000012.12:g.54497006_54497009dup	NC_000012.12:g.54497001_54497009dup	NC_000012.12:g.54497000_54497009dup	NC_000012.12:g.54497009_54497010insAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 12	NC_000012.11:g.54890777_54890793=	NC_000012.11:g.54890780_54890793del	NC_000012.11:g.54890782_54890793del	NC_000012.11:g.54890785_54890793del	NC_000012.11:g.54890790_54890793del	NC_000012.11:g.54890791_54890793del	NC_000012.11:g.54890792_54890793del	NC_000012.11:g.54890793del	NC_000012.11:g.54890793dup	NC_000012.11:g.54890792_54890793dup	NC_000012.11:g.54890791_54890793dup	NC_000012.11:g.54890790_54890793dup	NC_000012.11:g.54890785_54890793dup	NC_000012.11:g.54890784_54890793dup	NC_000012.11:g.54890793_54890794insAAAAAAAAAAAAAAAAAAAAAA

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#.

39 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HUMANGENOME_JCVI	ss95597210	Feb 13, 2009 (130)
2	PJP	ss294753266	May 09, 2011 (137)
3	PJP	ss294753267	May 09, 2011 (134)
4	SSIP	ss947297348	Aug 21, 2014 (142)
5	URBANLAB	ss3649842181	Oct 12, 2018 (152)
6	EVA_DECODE	ss3693710148	Jul 13, 2019 (153)
7	EVA_DECODE	ss3693710149	Jul 13, 2019 (153)
8	EVA_DECODE	ss3693710150	Jul 13, 2019 (153)
9	EVA_DECODE	ss3693710151	Jul 13, 2019 (153)
10	EVA_DECODE	ss3693710152	Jul 13, 2019 (153)
11	ACPOP	ss3739039141	Jul 13, 2019 (153)
12	ACPOP	ss3739039142	Jul 13, 2019 (153)
13	ACPOP	ss3739039143	Jul 13, 2019 (153)
14	EVA	ss3833133380	Apr 27, 2020 (154)
15	GNOMAD	ss4252154777	Apr 26, 2021 (155)
16	GNOMAD	ss4252154778	Apr 26, 2021 (155)
17	GNOMAD	ss4252154779	Apr 26, 2021 (155)
18	GNOMAD	ss4252154780	Apr 26, 2021 (155)
19	GNOMAD	ss4252154781	Apr 26, 2021 (155)
20	GNOMAD	ss4252154782	Apr 26, 2021 (155)
21	GNOMAD	ss4252154784	Apr 26, 2021 (155)
22	GNOMAD	ss4252154785	Apr 26, 2021 (155)
23	GNOMAD	ss4252154786	Apr 26, 2021 (155)
24	TOPMED	ss4918979369	Apr 26, 2021 (155)
25	TOPMED	ss4918979370	Apr 26, 2021 (155)
26	TOPMED	ss4918979371	Apr 26, 2021 (155)
27	TOMMO_GENOMICS	ss5206415863	Apr 26, 2021 (155)
28	TOMMO_GENOMICS	ss5206415864	Apr 26, 2021 (155)
29	TOMMO_GENOMICS	ss5206415865	Apr 26, 2021 (155)
30	1000G_HIGH_COVERAGE	ss5290879889	Oct 13, 2022 (156)
31	1000G_HIGH_COVERAGE	ss5290879890	Oct 13, 2022 (156)
32	1000G_HIGH_COVERAGE	ss5290879891	Oct 13, 2022 (156)
33	HUGCELL_USP	ss5485624935	Oct 13, 2022 (156)
34	HUGCELL_USP	ss5485624937	Oct 13, 2022 (156)
35	HUGCELL_USP	ss5485624938	Oct 13, 2022 (156)
36	HUGCELL_USP	ss5485624939	Oct 13, 2022 (156)
37	TOMMO_GENOMICS	ss5756236483	Oct 13, 2022 (156)
38	TOMMO_GENOMICS	ss5756236485	Oct 13, 2022 (156)
39	TOMMO_GENOMICS	ss5756236486	Oct 13, 2022 (156)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407921896 (NC_000012.12:54496992::A 16025/89796) Row 407921897 (NC_000012.12:54496992::AA 40/90006) Row 407921898 (NC_000012.12:54496992::AAA 1/90024)...	-	Apr 26, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407921896 (NC_000012.12:54496992::A 16025/89796) Row 407921897 (NC_000012.12:54496992::AA 40/90006) Row 407921898 (NC_000012.12:54496992::AAA 1/90024)...	-	Apr 26, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407921896 (NC_000012.12:54496992::A 16025/89796) Row 407921897 (NC_000012.12:54496992::AA 40/90006) Row 407921898 (NC_000012.12:54496992::AAA 1/90024)...	-	Apr 26, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407921896 (NC_000012.12:54496992::A 16025/89796) Row 407921897 (NC_000012.12:54496992::AA 40/90006) Row 407921898 (NC_000012.12:54496992::AAA 1/90024)...	-	Apr 26, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407921896 (NC_000012.12:54496992::A 16025/89796) Row 407921897 (NC_000012.12:54496992::AA 40/90006) Row 407921898 (NC_000012.12:54496992::AAA 1/90024)...	-	Apr 26, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407921896 (NC_000012.12:54496992::A 16025/89796) Row 407921897 (NC_000012.12:54496992::AA 40/90006) Row 407921898 (NC_000012.12:54496992::AAA 1/90024)...	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407921896 (NC_000012.12:54496992::A 16025/89796) Row 407921897 (NC_000012.12:54496992::AA 40/90006) Row 407921898 (NC_000012.12:54496992::AAA 1/90024)...	-	Apr 26, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407921896 (NC_000012.12:54496992::A 16025/89796) Row 407921897 (NC_000012.12:54496992::AA 40/90006) Row 407921898 (NC_000012.12:54496992::AAA 1/90024)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407921896 (NC_000012.12:54496992::A 16025/89796) Row 407921897 (NC_000012.12:54496992::AA 40/90006) Row 407921898 (NC_000012.12:54496992::AAA 1/90024)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407921896 (NC_000012.12:54496992::A 16025/89796) Row 407921897 (NC_000012.12:54496992::AA 40/90006) Row 407921898 (NC_000012.12:54496992::AAA 1/90024)...	-	Apr 26, 2021 (155)
50	Northern Sweden Submission ignored due to conflicting rows: Row 12324006 (NC_000012.11:54890776:A: 91/512) Row 12324007 (NC_000012.11:54890776::A 47/512) Row 12324008 (NC_000012.11:54890776::AAAAAAAAA 11/512)	-	Jul 13, 2019 (153)
51	Northern Sweden Submission ignored due to conflicting rows: Row 12324006 (NC_000012.11:54890776:A: 91/512) Row 12324007 (NC_000012.11:54890776::A 47/512) Row 12324008 (NC_000012.11:54890776::AAAAAAAAA 11/512)	-	Jul 13, 2019 (153)
52	Northern Sweden Submission ignored due to conflicting rows: Row 12324006 (NC_000012.11:54890776:A: 91/512) Row 12324007 (NC_000012.11:54890776::A 47/512) Row 12324008 (NC_000012.11:54890776::AAAAAAAAA 11/512)	-	Jul 13, 2019 (153)
53	8.3KJPN Submission ignored due to conflicting rows: Row 64385170 (NC_000012.11:54890776::A 1460/16698) Row 64385171 (NC_000012.11:54890776:A: 64/16698) Row 64385172 (NC_000012.11:54890776::AA 253/16698)	-	Apr 26, 2021 (155)
54	8.3KJPN Submission ignored due to conflicting rows: Row 64385170 (NC_000012.11:54890776::A 1460/16698) Row 64385171 (NC_000012.11:54890776:A: 64/16698) Row 64385172 (NC_000012.11:54890776::AA 253/16698)	-	Apr 26, 2021 (155)
55	8.3KJPN Submission ignored due to conflicting rows: Row 64385170 (NC_000012.11:54890776::A 1460/16698) Row 64385171 (NC_000012.11:54890776:A: 64/16698) Row 64385172 (NC_000012.11:54890776::AA 253/16698)	-	Apr 26, 2021 (155)
56	14KJPN Submission ignored due to conflicting rows: Row 90073587 (NC_000012.12:54496992::A 2366/28174) Row 90073589 (NC_000012.12:54496992:A: 107/28174) Row 90073590 (NC_000012.12:54496992::AA 413/28174)	-	Oct 13, 2022 (156)
57	14KJPN Submission ignored due to conflicting rows: Row 90073587 (NC_000012.12:54496992::A 2366/28174) Row 90073589 (NC_000012.12:54496992:A: 107/28174) Row 90073590 (NC_000012.12:54496992::AA 413/28174)	-	Oct 13, 2022 (156)
58	14KJPN Submission ignored due to conflicting rows: Row 90073587 (NC_000012.12:54496992::A 2366/28174) Row 90073589 (NC_000012.12:54496992:A: 107/28174) Row 90073590 (NC_000012.12:54496992::AA 413/28174)	-	Oct 13, 2022 (156)
59	TopMed Submission ignored due to conflicting rows: Row 134525026 (NC_000012.12:54496992:AAAAAAAAA: 3/264690) Row 134525027 (NC_000012.12:54496992:AAAAAAAAAAAA: 1/264690) Row 134525028 (NC_000012.12:54496992:AAAAAAAAAAAAAA: 2/264690)	-	Apr 26, 2021 (155)
60	TopMed Submission ignored due to conflicting rows: Row 134525026 (NC_000012.12:54496992:AAAAAAAAA: 3/264690) Row 134525027 (NC_000012.12:54496992:AAAAAAAAAAAA: 1/264690) Row 134525028 (NC_000012.12:54496992:AAAAAAAAAAAAAA: 2/264690)	-	Apr 26, 2021 (155)
61	TopMed Submission ignored due to conflicting rows: Row 134525026 (NC_000012.12:54496992:AAAAAAAAA: 3/264690) Row 134525027 (NC_000012.12:54496992:AAAAAAAAAAAA: 1/264690) Row 134525028 (NC_000012.12:54496992:AAAAAAAAAAAAAA: 2/264690)	-	Apr 26, 2021 (155)
62	ALFA	NC_000012.12 - 54496993	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).

Associated ID	History Updated (Build)
rs71938657	May 11, 2012 (137)
rs147564211	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4918979371	NC_000012.12:54496992:AAAAAAAAAAAA… NC_000012.12:54496992:AAAAAAAAAAAAAA:	NC_000012.12:54496992:AAAAAAAAAAAA… NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAA	(self)
12436014069	NC_000012.12:54496992:AAAAAAAAAAAA… NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAA	NC_000012.12:54496992:AAAAAAAAAAAA… NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAA	(self)
ss4918979370	NC_000012.12:54496992:AAAAAAAAAAAA:	NC_000012.12:54496992:AAAAAAAAAAAA… NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAA	(self)
12436014069	NC_000012.12:54496992:AAAAAAAAAAAA… NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAA	NC_000012.12:54496992:AAAAAAAAAAAA… NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAA	(self)
ss4918979369	NC_000012.12:54496992:AAAAAAAAA:	NC_000012.12:54496992:AAAAAAAAAAAA… NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAAAAA	(self)
12436014069	NC_000012.12:54496992:AAAAAAAAAAAA… NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAAAAA	NC_000012.12:54496992:AAAAAAAAAAAA… NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAAAAA	(self)
ss4252154786	NC_000012.12:54496992:AAAA:	NC_000012.12:54496992:AAAAAAAAAAAA… NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3693710152, ss4252154785	NC_000012.12:54496992:AAA:	NC_000012.12:54496992:AAAAAAAAAAAA… NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4252154784, ss5485624938	NC_000012.12:54496992:AA:	NC_000012.12:54496992:AAAAAAAAAAAA… NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
12436014069	NC_000012.12:54496992:AAAAAAAAAAAA… NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000012.12:54496992:AAAAAAAAAAAA… NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3693710151	NC_000012.12:54496993:AA:	NC_000012.12:54496992:AAAAAAAAAAAA… NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss294753266	NC_000012.10:53177043:A:	NC_000012.12:54496992:AAAAAAAAAAAA… NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss294753267	NC_000012.10:53177059:A:	NC_000012.12:54496992:AAAAAAAAAAAA… NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3739039141, ss3833133380, ss5206415864	NC_000012.11:54890776:A:	NC_000012.12:54496992:AAAAAAAAAAAA… NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3649842181, ss5290879890, ss5485624935, ss5756236485	NC_000012.12:54496992:A:	NC_000012.12:54496992:AAAAAAAAAAAA… NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
12436014069	NC_000012.12:54496992:AAAAAAAAAAAA… NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000012.12:54496992:AAAAAAAAAAAA… NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3693710150	NC_000012.12:54496994:A:	NC_000012.12:54496992:AAAAAAAAAAAA… NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss95597210	NT_029419.12:17034098:A:	NC_000012.12:54496992:AAAAAAAAAAAA… NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3739039142, ss5206415863	NC_000012.11:54890776::A	NC_000012.12:54496992:AAAAAAAAAAAA… NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss947297348	NC_000012.11:54890777::A	NC_000012.12:54496992:AAAAAAAAAAAA… NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4252154777, ss5290879889, ss5485624937, ss5756236483	NC_000012.12:54496992::A	NC_000012.12:54496992:AAAAAAAAAAAA… NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
12436014069	NC_000012.12:54496992:AAAAAAAAAAAA… NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000012.12:54496992:AAAAAAAAAAAA… NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3693710149	NC_000012.12:54496995::A	NC_000012.12:54496992:AAAAAAAAAAAA… NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss5206415865	NC_000012.11:54890776::AA	NC_000012.12:54496992:AAAAAAAAAAAA… NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4252154778, ss5290879891, ss5485624939, ss5756236486	NC_000012.12:54496992::AA	NC_000012.12:54496992:AAAAAAAAAAAA… NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
12436014069	NC_000012.12:54496992:AAAAAAAAAAAA… NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000012.12:54496992:AAAAAAAAAAAA… NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3693710148	NC_000012.12:54496995::AA	NC_000012.12:54496992:AAAAAAAAAAAA… NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4252154779	NC_000012.12:54496992::AAA	NC_000012.12:54496992:AAAAAAAAAAAA… NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4252154780	NC_000012.12:54496992::AAAA	NC_000012.12:54496992:AAAAAAAAAAAA… NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3739039143	NC_000012.11:54890776::AAAAAAAAA	NC_000012.12:54496992:AAAAAAAAAAAA… NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4252154781	NC_000012.12:54496992::AAAAAAAAAA	NC_000012.12:54496992:AAAAAAAAAAAA… NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4252154782	NC_000012.12:54496992::AAAAAAAAAAA… NC_000012.12:54496992::AAAAAAAAAAAAAAAAAAAAAA	NC_000012.12:54496992:AAAAAAAAAAAA… NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(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 rs71070822

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

rs71070822