Name: rs11398572
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.

rs11398572

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:116638067-116638085 (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)₁₀ / del(A)₆ / de…
del(A)₁₂ / del(A)₁₀ / del(A)₆ / del(A)₅ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₆
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₁₂=0.0000 (0/4834, ALFA)
del(A)₁₀=0.0000 (0/4834, ALFA)
del(A)₆=0.0000 (0/4834, ALFA) (+ 6 more)
delAAA=0.0000 (0/4834, ALFA)
delAA=0.0000 (0/4834, ALFA)
delA=0.0000 (0/4834, ALFA)
dupA=0.0000 (0/4834, ALFA)
dupAA=0.0000 (0/4834, ALFA)
dupAAA=0.0000 (0/4834, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ZUP1 : 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	HWEP
Total	Global	4834	AAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
European	Sub	3692	AAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African	Sub	656	AAAAAAAAAAAAAAAAAAA=1.000	AAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
African Others	Sub	20	AAAAAAAAAAAAAAAAAAA=1.00	AAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
African American	Sub	636	AAAAAAAAAAAAAAAAAAA=1.000	AAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
Asian	Sub	34	AAAAAAAAAAAAAAAAAAA=1.00	AAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
East Asian	Sub	28	AAAAAAAAAAAAAAAAAAA=1.00	AAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other Asian	Sub	6	AAAAAAAAAAAAAAAAAAA=1.0	AAAAAAA=0.0, AAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	N/A
Latin American 1	Sub	50	AAAAAAAAAAAAAAAAAAA=1.00	AAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 2	Sub	166	AAAAAAAAAAAAAAAAAAA=1.000	AAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
South Asian	Sub	36	AAAAAAAAAAAAAAAAAAA=1.00	AAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other	Sub	200	AAAAAAAAAAAAAAAAAAA=1.000	AAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=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	4834	(A)₁₉=1.0000	del(A)₁₂=0.0000, del(A)₁₀=0.0000, del(A)₆=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	3692	(A)₁₉=1.0000	del(A)₁₂=0.0000, del(A)₁₀=0.0000, del(A)₆=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	656	(A)₁₉=1.000	del(A)₁₂=0.000, del(A)₁₀=0.000, del(A)₆=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Other	Sub	200	(A)₁₉=1.000	del(A)₁₂=0.000, del(A)₁₀=0.000, del(A)₆=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Latin American 2	Sub	166	(A)₁₉=1.000	del(A)₁₂=0.000, del(A)₁₀=0.000, del(A)₆=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Latin American 1	Sub	50	(A)₁₉=1.00	del(A)₁₂=0.00, del(A)₁₀=0.00, del(A)₆=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	South Asian	Sub	36	(A)₁₉=1.00	del(A)₁₂=0.00, del(A)₁₀=0.00, del(A)₆=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	Asian	Sub	34	(A)₁₉=1.00	del(A)₁₂=0.00, del(A)₁₀=0.00, del(A)₆=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=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 6	NC_000006.12:g.116638074_116638085del
GRCh38.p14 chr 6	NC_000006.12:g.116638076_116638085del
GRCh38.p14 chr 6	NC_000006.12:g.116638080_116638085del
GRCh38.p14 chr 6	NC_000006.12:g.116638081_116638085del
GRCh38.p14 chr 6	NC_000006.12:g.116638083_116638085del
GRCh38.p14 chr 6	NC_000006.12:g.116638084_116638085del
GRCh38.p14 chr 6	NC_000006.12:g.116638085del
GRCh38.p14 chr 6	NC_000006.12:g.116638085dup
GRCh38.p14 chr 6	NC_000006.12:g.116638084_116638085dup
GRCh38.p14 chr 6	NC_000006.12:g.116638083_116638085dup
GRCh38.p14 chr 6	NC_000006.12:g.116638082_116638085dup
GRCh38.p14 chr 6	NC_000006.12:g.116638081_116638085dup
GRCh38.p14 chr 6	NC_000006.12:g.116638080_116638085dup
GRCh37.p13 chr 6	NC_000006.11:g.116959237_116959248del
GRCh37.p13 chr 6	NC_000006.11:g.116959239_116959248del
GRCh37.p13 chr 6	NC_000006.11:g.116959243_116959248del
GRCh37.p13 chr 6	NC_000006.11:g.116959244_116959248del
GRCh37.p13 chr 6	NC_000006.11:g.116959246_116959248del
GRCh37.p13 chr 6	NC_000006.11:g.116959247_116959248del
GRCh37.p13 chr 6	NC_000006.11:g.116959248del
GRCh37.p13 chr 6	NC_000006.11:g.116959248dup
GRCh37.p13 chr 6	NC_000006.11:g.116959247_116959248dup
GRCh37.p13 chr 6	NC_000006.11:g.116959246_116959248dup
GRCh37.p13 chr 6	NC_000006.11:g.116959245_116959248dup
GRCh37.p13 chr 6	NC_000006.11:g.116959244_116959248dup
GRCh37.p13 chr 6	NC_000006.11:g.116959243_116959248dup

Gene: ZUP1, zinc finger containing ubiquitin peptidase 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ZUP1 transcript variant 2	NM_001361189.2:c.1690-219… NM_001361189.2:c.1690-2199_1690-2188del	N/A	Intron Variant
ZUP1 transcript variant 3	NM_001361190.2:c.1186-219… NM_001361190.2:c.1186-2199_1186-2188del	N/A	Intron Variant
ZUP1 transcript variant 6	NM_001361191.2:c.1102-219… NM_001361191.2:c.1102-2199_1102-2188del	N/A	Intron Variant
ZUP1 transcript variant 1	NM_145062.3:c.1690-2199_1… NM_145062.3:c.1690-2199_1690-2188del	N/A	Intron Variant
ZUP1 transcript variant 4	NR_154586.2:n.	N/A	Intron Variant
ZUP1 transcript variant 5	NR_154587.2:n.	N/A	Intron Variant
ZUP1 transcript variant 7	NR_154588.2:n.	N/A	Intron Variant
ZUP1 transcript variant 8	NR_154589.2: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)₁₉=	del(A)₁₂	del(A)₁₀	del(A)₆	del(A)₅	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₆
GRCh38.p14 chr 6	NC_000006.12:g.116638067_116638085=	NC_000006.12:g.116638074_116638085del	NC_000006.12:g.116638076_116638085del	NC_000006.12:g.116638080_116638085del	NC_000006.12:g.116638081_116638085del	NC_000006.12:g.116638083_116638085del	NC_000006.12:g.116638084_116638085del	NC_000006.12:g.116638085del	NC_000006.12:g.116638085dup	NC_000006.12:g.116638084_116638085dup	NC_000006.12:g.116638083_116638085dup	NC_000006.12:g.116638082_116638085dup	NC_000006.12:g.116638081_116638085dup	NC_000006.12:g.116638080_116638085dup
GRCh37.p13 chr 6	NC_000006.11:g.116959230_116959248=	NC_000006.11:g.116959237_116959248del	NC_000006.11:g.116959239_116959248del	NC_000006.11:g.116959243_116959248del	NC_000006.11:g.116959244_116959248del	NC_000006.11:g.116959246_116959248del	NC_000006.11:g.116959247_116959248del	NC_000006.11:g.116959248del	NC_000006.11:g.116959248dup	NC_000006.11:g.116959247_116959248dup	NC_000006.11:g.116959246_116959248dup	NC_000006.11:g.116959245_116959248dup	NC_000006.11:g.116959244_116959248dup	NC_000006.11:g.116959243_116959248dup
ZUP1 transcript variant 2	NM_001361189.2:c.1690-2188=	NM_001361189.2:c.1690-2199_1690-2188del	NM_001361189.2:c.1690-2197_1690-2188del	NM_001361189.2:c.1690-2193_1690-2188del	NM_001361189.2:c.1690-2192_1690-2188del	NM_001361189.2:c.1690-2190_1690-2188del	NM_001361189.2:c.1690-2189_1690-2188del	NM_001361189.2:c.1690-2188del	NM_001361189.2:c.1690-2188dup	NM_001361189.2:c.1690-2189_1690-2188dup	NM_001361189.2:c.1690-2190_1690-2188dup	NM_001361189.2:c.1690-2191_1690-2188dup	NM_001361189.2:c.1690-2192_1690-2188dup	NM_001361189.2:c.1690-2193_1690-2188dup
ZUP1 transcript variant 3	NM_001361190.2:c.1186-2188=	NM_001361190.2:c.1186-2199_1186-2188del	NM_001361190.2:c.1186-2197_1186-2188del	NM_001361190.2:c.1186-2193_1186-2188del	NM_001361190.2:c.1186-2192_1186-2188del	NM_001361190.2:c.1186-2190_1186-2188del	NM_001361190.2:c.1186-2189_1186-2188del	NM_001361190.2:c.1186-2188del	NM_001361190.2:c.1186-2188dup	NM_001361190.2:c.1186-2189_1186-2188dup	NM_001361190.2:c.1186-2190_1186-2188dup	NM_001361190.2:c.1186-2191_1186-2188dup	NM_001361190.2:c.1186-2192_1186-2188dup	NM_001361190.2:c.1186-2193_1186-2188dup
ZUP1 transcript variant 6	NM_001361191.2:c.1102-2188=	NM_001361191.2:c.1102-2199_1102-2188del	NM_001361191.2:c.1102-2197_1102-2188del	NM_001361191.2:c.1102-2193_1102-2188del	NM_001361191.2:c.1102-2192_1102-2188del	NM_001361191.2:c.1102-2190_1102-2188del	NM_001361191.2:c.1102-2189_1102-2188del	NM_001361191.2:c.1102-2188del	NM_001361191.2:c.1102-2188dup	NM_001361191.2:c.1102-2189_1102-2188dup	NM_001361191.2:c.1102-2190_1102-2188dup	NM_001361191.2:c.1102-2191_1102-2188dup	NM_001361191.2:c.1102-2192_1102-2188dup	NM_001361191.2:c.1102-2193_1102-2188dup
ZUP1 transcript variant 1	NM_145062.2:c.1690-2188=	NM_145062.2:c.1690-2199_1690-2188del	NM_145062.2:c.1690-2197_1690-2188del	NM_145062.2:c.1690-2193_1690-2188del	NM_145062.2:c.1690-2192_1690-2188del	NM_145062.2:c.1690-2190_1690-2188del	NM_145062.2:c.1690-2189_1690-2188del	NM_145062.2:c.1690-2188del	NM_145062.2:c.1690-2188dup	NM_145062.2:c.1690-2189_1690-2188dup	NM_145062.2:c.1690-2190_1690-2188dup	NM_145062.2:c.1690-2191_1690-2188dup	NM_145062.2:c.1690-2192_1690-2188dup	NM_145062.2:c.1690-2193_1690-2188dup
ZUP1 transcript variant 1	NM_145062.3:c.1690-2188=	NM_145062.3:c.1690-2199_1690-2188del	NM_145062.3:c.1690-2197_1690-2188del	NM_145062.3:c.1690-2193_1690-2188del	NM_145062.3:c.1690-2192_1690-2188del	NM_145062.3:c.1690-2190_1690-2188del	NM_145062.3:c.1690-2189_1690-2188del	NM_145062.3:c.1690-2188del	NM_145062.3:c.1690-2188dup	NM_145062.3:c.1690-2189_1690-2188dup	NM_145062.3:c.1690-2190_1690-2188dup	NM_145062.3:c.1690-2191_1690-2188dup	NM_145062.3:c.1690-2192_1690-2188dup	NM_145062.3:c.1690-2193_1690-2188dup

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#.

52 SubSNP, 27 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	PJP	ss295303094	May 09, 2011 (137)
2	BILGI_BIOE	ss666371445	Apr 25, 2013 (138)
3	SSIP	ss947178993	Aug 21, 2014 (142)
4	SWEGEN	ss2999814456	Nov 08, 2017 (151)
5	SWEGEN	ss2999814457	Nov 08, 2017 (151)
6	MCHAISSO	ss3066103003	Nov 08, 2017 (151)
7	EVA_DECODE	ss3718110554	Jul 13, 2019 (153)
8	EVA_DECODE	ss3718110555	Jul 13, 2019 (153)
9	EVA_DECODE	ss3718110556	Jul 13, 2019 (153)
10	EVA_DECODE	ss3718110557	Jul 13, 2019 (153)
11	EVA_DECODE	ss3718110558	Jul 13, 2019 (153)
12	PACBIO	ss3785598461	Jul 13, 2019 (153)
13	PACBIO	ss3790930284	Jul 13, 2019 (153)
14	PACBIO	ss3790930285	Jul 13, 2019 (153)
15	PACBIO	ss3795809511	Jul 13, 2019 (153)
16	PACBIO	ss3795809512	Jul 13, 2019 (153)
17	EVA	ss3830152907	Apr 26, 2020 (154)
18	KOGIC	ss3959920138	Apr 26, 2020 (154)
19	KOGIC	ss3959920139	Apr 26, 2020 (154)
20	KOGIC	ss3959920140	Apr 26, 2020 (154)
21	KOGIC	ss3959920141	Apr 26, 2020 (154)
22	KOGIC	ss3959920142	Apr 26, 2020 (154)
23	GNOMAD	ss4149904094	Apr 26, 2021 (155)
24	GNOMAD	ss4149904095	Apr 26, 2021 (155)
25	GNOMAD	ss4149904096	Apr 26, 2021 (155)
26	GNOMAD	ss4149904097	Apr 26, 2021 (155)
27	GNOMAD	ss4149904098	Apr 26, 2021 (155)
28	GNOMAD	ss4149904099	Apr 26, 2021 (155)
29	GNOMAD	ss4149904100	Apr 26, 2021 (155)
30	GNOMAD	ss4149904101	Apr 26, 2021 (155)
31	GNOMAD	ss4149904102	Apr 26, 2021 (155)
32	GNOMAD	ss4149904103	Apr 26, 2021 (155)
33	GNOMAD	ss4149904104	Apr 26, 2021 (155)
34	GNOMAD	ss4149904105	Apr 26, 2021 (155)
35	TOMMO_GENOMICS	ss5179546309	Apr 26, 2021 (155)
36	TOMMO_GENOMICS	ss5179546310	Apr 26, 2021 (155)
37	TOMMO_GENOMICS	ss5179546311	Apr 26, 2021 (155)
38	TOMMO_GENOMICS	ss5179546312	Apr 26, 2021 (155)
39	1000G_HIGH_COVERAGE	ss5270049478	Oct 13, 2022 (156)
40	1000G_HIGH_COVERAGE	ss5270049480	Oct 13, 2022 (156)
41	1000G_HIGH_COVERAGE	ss5270049481	Oct 13, 2022 (156)
42	1000G_HIGH_COVERAGE	ss5270049482	Oct 13, 2022 (156)
43	1000G_HIGH_COVERAGE	ss5270049483	Oct 13, 2022 (156)
44	HUGCELL_USP	ss5467519756	Oct 13, 2022 (156)
45	HUGCELL_USP	ss5467519758	Oct 13, 2022 (156)
46	HUGCELL_USP	ss5467519759	Oct 13, 2022 (156)
47	HUGCELL_USP	ss5467519760	Oct 13, 2022 (156)
48	TOMMO_GENOMICS	ss5718325963	Oct 13, 2022 (156)
49	TOMMO_GENOMICS	ss5718325964	Oct 13, 2022 (156)
50	TOMMO_GENOMICS	ss5718325965	Oct 13, 2022 (156)
51	TOMMO_GENOMICS	ss5718325966	Oct 13, 2022 (156)
52	TOMMO_GENOMICS	ss5718325968	Oct 13, 2022 (156)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 238590565 (NC_000006.12:116638066::A 37414/81334) Row 238590566 (NC_000006.12:116638066::AA 2108/81454) Row 238590567 (NC_000006.12:116638066::AAA 83/81624)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 238590565 (NC_000006.12:116638066::A 37414/81334) Row 238590566 (NC_000006.12:116638066::AA 2108/81454) Row 238590567 (NC_000006.12:116638066::AAA 83/81624)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 238590565 (NC_000006.12:116638066::A 37414/81334) Row 238590566 (NC_000006.12:116638066::AA 2108/81454) Row 238590567 (NC_000006.12:116638066::AAA 83/81624)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 238590565 (NC_000006.12:116638066::A 37414/81334) Row 238590566 (NC_000006.12:116638066::AA 2108/81454) Row 238590567 (NC_000006.12:116638066::AAA 83/81624)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 238590565 (NC_000006.12:116638066::A 37414/81334) Row 238590566 (NC_000006.12:116638066::AA 2108/81454) Row 238590567 (NC_000006.12:116638066::AAA 83/81624)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 238590565 (NC_000006.12:116638066::A 37414/81334) Row 238590566 (NC_000006.12:116638066::AA 2108/81454) Row 238590567 (NC_000006.12:116638066::AAA 83/81624)...	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 238590565 (NC_000006.12:116638066::A 37414/81334) Row 238590566 (NC_000006.12:116638066::AA 2108/81454) Row 238590567 (NC_000006.12:116638066::AAA 83/81624)...	-	Apr 26, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 238590565 (NC_000006.12:116638066::A 37414/81334) Row 238590566 (NC_000006.12:116638066::AA 2108/81454) Row 238590567 (NC_000006.12:116638066::AAA 83/81624)...	-	Apr 26, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 238590565 (NC_000006.12:116638066::A 37414/81334) Row 238590566 (NC_000006.12:116638066::AA 2108/81454) Row 238590567 (NC_000006.12:116638066::AAA 83/81624)...	-	Apr 26, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 238590565 (NC_000006.12:116638066::A 37414/81334) Row 238590566 (NC_000006.12:116638066::AA 2108/81454) Row 238590567 (NC_000006.12:116638066::AAA 83/81624)...	-	Apr 26, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 238590565 (NC_000006.12:116638066::A 37414/81334) Row 238590566 (NC_000006.12:116638066::AA 2108/81454) Row 238590567 (NC_000006.12:116638066::AAA 83/81624)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 238590565 (NC_000006.12:116638066::A 37414/81334) Row 238590566 (NC_000006.12:116638066::AA 2108/81454) Row 238590567 (NC_000006.12:116638066::AAA 83/81624)...	-	Apr 26, 2021 (155)
65	Korean Genome Project Submission ignored due to conflicting rows: Row 16298139 (NC_000006.12:116638068::A 535/1784) Row 16298140 (NC_000006.12:116638067:A: 160/1784) Row 16298141 (NC_000006.12:116638068::AA 104/1784)...	-	Apr 26, 2020 (154)
66	Korean Genome Project Submission ignored due to conflicting rows: Row 16298139 (NC_000006.12:116638068::A 535/1784) Row 16298140 (NC_000006.12:116638067:A: 160/1784) Row 16298141 (NC_000006.12:116638068::AA 104/1784)...	-	Apr 26, 2020 (154)
67	Korean Genome Project Submission ignored due to conflicting rows: Row 16298139 (NC_000006.12:116638068::A 535/1784) Row 16298140 (NC_000006.12:116638067:A: 160/1784) Row 16298141 (NC_000006.12:116638068::AA 104/1784)...	-	Apr 26, 2020 (154)
68	Korean Genome Project Submission ignored due to conflicting rows: Row 16298139 (NC_000006.12:116638068::A 535/1784) Row 16298140 (NC_000006.12:116638067:A: 160/1784) Row 16298141 (NC_000006.12:116638068::AA 104/1784)...	-	Apr 26, 2020 (154)
69	Korean Genome Project Submission ignored due to conflicting rows: Row 16298139 (NC_000006.12:116638068::A 535/1784) Row 16298140 (NC_000006.12:116638067:A: 160/1784) Row 16298141 (NC_000006.12:116638068::AA 104/1784)...	-	Apr 26, 2020 (154)
70	8.3KJPN Submission ignored due to conflicting rows: Row 37515616 (NC_000006.11:116959229::A 5611/16714) Row 37515617 (NC_000006.11:116959229::AA 787/16714) Row 37515618 (NC_000006.11:116959229::AAA 3/16714)...	-	Apr 26, 2021 (155)
71	8.3KJPN Submission ignored due to conflicting rows: Row 37515616 (NC_000006.11:116959229::A 5611/16714) Row 37515617 (NC_000006.11:116959229::AA 787/16714) Row 37515618 (NC_000006.11:116959229::AAA 3/16714)...	-	Apr 26, 2021 (155)
72	8.3KJPN Submission ignored due to conflicting rows: Row 37515616 (NC_000006.11:116959229::A 5611/16714) Row 37515617 (NC_000006.11:116959229::AA 787/16714) Row 37515618 (NC_000006.11:116959229::AAA 3/16714)...	-	Apr 26, 2021 (155)
73	8.3KJPN Submission ignored due to conflicting rows: Row 37515616 (NC_000006.11:116959229::A 5611/16714) Row 37515617 (NC_000006.11:116959229::AA 787/16714) Row 37515618 (NC_000006.11:116959229::AAA 3/16714)...	-	Apr 26, 2021 (155)
74	14KJPN Submission ignored due to conflicting rows: Row 52163067 (NC_000006.12:116638066::A 9627/28256) Row 52163068 (NC_000006.12:116638066::AA 1358/28256) Row 52163069 (NC_000006.12:116638066:A: 24/28256)...	-	Oct 13, 2022 (156)
75	14KJPN Submission ignored due to conflicting rows: Row 52163067 (NC_000006.12:116638066::A 9627/28256) Row 52163068 (NC_000006.12:116638066::AA 1358/28256) Row 52163069 (NC_000006.12:116638066:A: 24/28256)...	-	Oct 13, 2022 (156)
76	14KJPN Submission ignored due to conflicting rows: Row 52163067 (NC_000006.12:116638066::A 9627/28256) Row 52163068 (NC_000006.12:116638066::AA 1358/28256) Row 52163069 (NC_000006.12:116638066:A: 24/28256)...	-	Oct 13, 2022 (156)
77	14KJPN Submission ignored due to conflicting rows: Row 52163067 (NC_000006.12:116638066::A 9627/28256) Row 52163068 (NC_000006.12:116638066::AA 1358/28256) Row 52163069 (NC_000006.12:116638066:A: 24/28256)...	-	Oct 13, 2022 (156)
78	14KJPN Submission ignored due to conflicting rows: Row 52163067 (NC_000006.12:116638066::A 9627/28256) Row 52163068 (NC_000006.12:116638066::AA 1358/28256) Row 52163069 (NC_000006.12:116638066:A: 24/28256)...	-	Oct 13, 2022 (156)
79	ALFA	NC_000006.12 - 116638067	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)
rs71743677	May 11, 2012 (137)
rs71750366	May 11, 2012 (137)
rs146210146	Sep 17, 2011 (135)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4149904105	NC_000006.12:116638066:AAAAAAAAAAA… NC_000006.12:116638066:AAAAAAAAAAAA:	NC_000006.12:116638066:AAAAAAAAAAA… NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAA	(self)
11558320616	NC_000006.12:116638066:AAAAAAAAAAA… NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAA	NC_000006.12:116638066:AAAAAAAAAAA… NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAA	(self)
ss4149904104	NC_000006.12:116638066:AAAAAAAAAA:	NC_000006.12:116638066:AAAAAAAAAAA… NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
11558320616	NC_000006.12:116638066:AAAAAAAAAAA… NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA	NC_000006.12:116638066:AAAAAAAAAAA… NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
ss5270049483, ss5718325968	NC_000006.12:116638066:AAAAAA:	NC_000006.12:116638066:AAAAAAAAAAA… NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA
11558320616	NC_000006.12:116638066:AAAAAAAAAAA… NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000006.12:116638066:AAAAAAAAAAA… NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4149904103	NC_000006.12:116638066:AAAAA:	NC_000006.12:116638066:AAAAAAAAAAA… NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3718110558, ss4149904102	NC_000006.12:116638066:AAA:	NC_000006.12:116638066:AAAAAAAAAAA… NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
11558320616	NC_000006.12:116638066:AAAAAAAAAAA… NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000006.12:116638066:AAAAAAAAAAA… NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3959920142, ss4149904101	NC_000006.12:116638066:AA:	NC_000006.12:116638066:AAAAAAAAAAA… NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
11558320616	NC_000006.12:116638066:AAAAAAAAAAA… NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000006.12:116638066:AAAAAAAAAAA… NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3718110557	NC_000006.12:116638067:AA:	NC_000006.12:116638066:AAAAAAAAAAA… NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3785598461, ss3790930284, ss3795809511, ss5179546312	NC_000006.11:116959229:A:	NC_000006.12:116638066:AAAAAAAAAAA… NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4149904100, ss5270049480, ss5467519758, ss5718325965	NC_000006.12:116638066:A:	NC_000006.12:116638066:AAAAAAAAAAA… NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
11558320616	NC_000006.12:116638066:AAAAAAAAAAA… NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000006.12:116638066:AAAAAAAAAAA… NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3959920139	NC_000006.12:116638067:A:	NC_000006.12:116638066:AAAAAAAAAAA… NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3718110556	NC_000006.12:116638068:A:	NC_000006.12:116638066:AAAAAAAAAAA… NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss295303094	NC_000006.10:117065923::A	NC_000006.12:116638066:AAAAAAAAAAA… NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss666371445, ss2999814456, ss3790930285, ss3795809512, ss3830152907, ss5179546309	NC_000006.11:116959229::A	NC_000006.12:116638066:AAAAAAAAAAA… NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss947178993	NC_000006.11:116959230::A	NC_000006.12:116638066:AAAAAAAAAAA… NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3066103003, ss4149904094, ss5270049478, ss5467519756, ss5718325963	NC_000006.12:116638066::A	NC_000006.12:116638066:AAAAAAAAAAA… NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
11558320616	NC_000006.12:116638066:AAAAAAAAAAA… NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000006.12:116638066:AAAAAAAAAAA… NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3959920138	NC_000006.12:116638068::A	NC_000006.12:116638066:AAAAAAAAAAA… NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3718110555	NC_000006.12:116638069::A	NC_000006.12:116638066:AAAAAAAAAAA… NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss2999814457, ss5179546310	NC_000006.11:116959229::AA	NC_000006.12:116638066:AAAAAAAAAAA… NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4149904095, ss5270049481, ss5467519759, ss5718325964	NC_000006.12:116638066::AA	NC_000006.12:116638066:AAAAAAAAAAA… NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
11558320616	NC_000006.12:116638066:AAAAAAAAAAA… NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000006.12:116638066:AAAAAAAAAAA… NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3959920140	NC_000006.12:116638068::AA	NC_000006.12:116638066:AAAAAAAAAAA… NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3718110554	NC_000006.12:116638069::AA	NC_000006.12:116638066:AAAAAAAAAAA… NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss5179546311	NC_000006.11:116959229::AAA	NC_000006.12:116638066:AAAAAAAAAAA… NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4149904096, ss5270049482, ss5467519760, ss5718325966	NC_000006.12:116638066::AAA	NC_000006.12:116638066:AAAAAAAAAAA… NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
11558320616	NC_000006.12:116638066:AAAAAAAAAAA… NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000006.12:116638066:AAAAAAAAAAA… NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3959920141	NC_000006.12:116638068::AAA	NC_000006.12:116638066:AAAAAAAAAAA… NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4149904097	NC_000006.12:116638066::AAAA	NC_000006.12:116638066:AAAAAAAAAAA… NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4149904098	NC_000006.12:116638066::AAAAA	NC_000006.12:116638066:AAAAAAAAAAA… NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4149904099	NC_000006.12:116638066::AAAAAA	NC_000006.12:116638066:AAAAAAAAAAA… NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(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 rs11398572

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

rs11398572