Name: rs754119100
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.

rs754119100

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:44770489-44770499 (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(C)₆ / del(C)₅ / del(C)₄ / delC…
del(C)₆ / del(C)₅ / del(C)₄ / delCCC / delCC / delC / dupC / dupCC / dup(C)₈ / dup(C)₉ / dup(C)₁₁ / ins(C)₁₂
Variation Type: Indel Insertion and Deletion
Frequency: del(C)₄=0.0000 (0/9058, ALFA)
delCCC=0.0000 (0/9058, ALFA)
delCC=0.0000 (0/9058, ALFA) (+ 5 more)
delC=0.0000 (0/9058, ALFA)
dupC=0.0000 (0/9058, ALFA)
dupCC=0.0000 (0/9058, ALFA)
del(C)₅=0.4572 (1762/3854, ALSPAC)
delC=0.12 (5/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ADAM11 : 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	9058	CCCCCCCCCCC=1.0000	CCCCCCC=0.0000, CCCCCCCC=0.0000, CCCCCCCCC=0.0000, CCCCCCCCCC=0.0000, CCCCCCCCCCCC=0.0000, CCCCCCCCCCCCC=0.0000	1.0	N/A
European	Sub	5386	CCCCCCCCCCC=1.0000	CCCCCCC=0.0000, CCCCCCCC=0.0000, CCCCCCCCC=0.0000, CCCCCCCCCC=0.0000, CCCCCCCCCCCC=0.0000, CCCCCCCCCCCCC=0.0000	1.0	N/A
African	Sub	2522	CCCCCCCCCCC=1.0000	CCCCCCC=0.0000, CCCCCCCC=0.0000, CCCCCCCCC=0.0000, CCCCCCCCCC=0.0000, CCCCCCCCCCCC=0.0000, CCCCCCCCCCCCC=0.0000	1.0	N/A
African Others	Sub	100	CCCCCCCCCCC=1.00	CCCCCCC=0.00, CCCCCCCC=0.00, CCCCCCCCC=0.00, CCCCCCCCCC=0.00, CCCCCCCCCCCC=0.00, CCCCCCCCCCCCC=0.00	1.0	N/A
African American	Sub	2422	CCCCCCCCCCC=1.0000	CCCCCCC=0.0000, CCCCCCCC=0.0000, CCCCCCCCC=0.0000, CCCCCCCCCC=0.0000, CCCCCCCCCCCC=0.0000, CCCCCCCCCCCCC=0.0000	1.0	N/A
Asian	Sub	102	CCCCCCCCCCC=1.000	CCCCCCC=0.000, CCCCCCCC=0.000, CCCCCCCCC=0.000, CCCCCCCCCC=0.000, CCCCCCCCCCCC=0.000, CCCCCCCCCCCCC=0.000	1.0	N/A
East Asian	Sub	78	CCCCCCCCCCC=1.00	CCCCCCC=0.00, CCCCCCCC=0.00, CCCCCCCCC=0.00, CCCCCCCCCC=0.00, CCCCCCCCCCCC=0.00, CCCCCCCCCCCCC=0.00	1.0	N/A
Other Asian	Sub	24	CCCCCCCCCCC=1.00	CCCCCCC=0.00, CCCCCCCC=0.00, CCCCCCCCC=0.00, CCCCCCCCCC=0.00, CCCCCCCCCCCC=0.00, CCCCCCCCCCCCC=0.00	1.0	N/A
Latin American 1	Sub	102	CCCCCCCCCCC=1.000	CCCCCCC=0.000, CCCCCCCC=0.000, CCCCCCCCC=0.000, CCCCCCCCCC=0.000, CCCCCCCCCCCC=0.000, CCCCCCCCCCCCC=0.000	1.0	N/A
Latin American 2	Sub	508	CCCCCCCCCCC=1.000	CCCCCCC=0.000, CCCCCCCC=0.000, CCCCCCCCC=0.000, CCCCCCCCCC=0.000, CCCCCCCCCCCC=0.000, CCCCCCCCCCCCC=0.000	1.0	N/A
South Asian	Sub	62	CCCCCCCCCCC=1.00	CCCCCCC=0.00, CCCCCCCC=0.00, CCCCCCCCC=0.00, CCCCCCCCCC=0.00, CCCCCCCCCCCC=0.00, CCCCCCCCCCCCC=0.00	1.0	N/A
Other	Sub	376	CCCCCCCCCCC=1.000	CCCCCCC=0.000, CCCCCCCC=0.000, CCCCCCCCC=0.000, CCCCCCCCCC=0.000, CCCCCCCCCCCC=0.000, CCCCCCCCCCCCC=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	9058	(C)₁₁=1.0000	del(C)₄=0.0000, delCCC=0.0000, delCC=0.0000, delC=0.0000, dupC=0.0000, dupCC=0.0000
Allele Frequency Aggregator	European	Sub	5386	(C)₁₁=1.0000	del(C)₄=0.0000, delCCC=0.0000, delCC=0.0000, delC=0.0000, dupC=0.0000, dupCC=0.0000
Allele Frequency Aggregator	African	Sub	2522	(C)₁₁=1.0000	del(C)₄=0.0000, delCCC=0.0000, delCC=0.0000, delC=0.0000, dupC=0.0000, dupCC=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	508	(C)₁₁=1.000	del(C)₄=0.000, delCCC=0.000, delCC=0.000, delC=0.000, dupC=0.000, dupCC=0.000
Allele Frequency Aggregator	Other	Sub	376	(C)₁₁=1.000	del(C)₄=0.000, delCCC=0.000, delCC=0.000, delC=0.000, dupC=0.000, dupCC=0.000
Allele Frequency Aggregator	Latin American 1	Sub	102	(C)₁₁=1.000	del(C)₄=0.000, delCCC=0.000, delCC=0.000, delC=0.000, dupC=0.000, dupCC=0.000
Allele Frequency Aggregator	Asian	Sub	102	(C)₁₁=1.000	del(C)₄=0.000, delCCC=0.000, delCC=0.000, delC=0.000, dupC=0.000, dupCC=0.000
Allele Frequency Aggregator	South Asian	Sub	62	(C)₁₁=1.00	del(C)₄=0.00, delCCC=0.00, delCC=0.00, delC=0.00, dupC=0.00, dupCC=0.00
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	(C)₁₁=0.5428	del(C)₅=0.4572
The Danish reference pan genome	Danish	Study-wide	40	(C)₁₁=0.88	delC=0.12

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 17	NC_000017.11:g.44770494_44770499del
GRCh38.p14 chr 17	NC_000017.11:g.44770495_44770499del
GRCh38.p14 chr 17	NC_000017.11:g.44770496_44770499del
GRCh38.p14 chr 17	NC_000017.11:g.44770497_44770499del
GRCh38.p14 chr 17	NC_000017.11:g.44770498_44770499del
GRCh38.p14 chr 17	NC_000017.11:g.44770499del
GRCh38.p14 chr 17	NC_000017.11:g.44770499dup
GRCh38.p14 chr 17	NC_000017.11:g.44770498_44770499dup
GRCh38.p14 chr 17	NC_000017.11:g.44770492_44770499dup
GRCh38.p14 chr 17	NC_000017.11:g.44770491_44770499dup
GRCh38.p14 chr 17	NC_000017.11:g.44770489_44770499dup
GRCh38.p14 chr 17	NC_000017.11:g.44770499_44770500insCCCCCCCCCCCC
GRCh37.p13 chr 17	NC_000017.10:g.42847862_42847867del
GRCh37.p13 chr 17	NC_000017.10:g.42847863_42847867del
GRCh37.p13 chr 17	NC_000017.10:g.42847864_42847867del
GRCh37.p13 chr 17	NC_000017.10:g.42847865_42847867del
GRCh37.p13 chr 17	NC_000017.10:g.42847866_42847867del
GRCh37.p13 chr 17	NC_000017.10:g.42847867del
GRCh37.p13 chr 17	NC_000017.10:g.42847867dup
GRCh37.p13 chr 17	NC_000017.10:g.42847866_42847867dup
GRCh37.p13 chr 17	NC_000017.10:g.42847860_42847867dup
GRCh37.p13 chr 17	NC_000017.10:g.42847859_42847867dup
GRCh37.p13 chr 17	NC_000017.10:g.42847857_42847867dup
GRCh37.p13 chr 17	NC_000017.10:g.42847867_42847868insCCCCCCCCCCCC

Gene: ADAM11, ADAM metallopeptidase domain 11 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ADAM11 transcript variant 3	NM_001318933.2:c.-216+446… NM_001318933.2:c.-216+446_-216+451del	N/A	Intron Variant
ADAM11 transcript variant 1	NM_002390.6:c.381+446_381… NM_002390.6:c.381+446_381+451del	N/A	Intron Variant
ADAM11 transcript variant X1	XM_005257373.5:c.381+446_… XM_005257373.5:c.381+446_381+451del	N/A	Intron Variant
ADAM11 transcript variant X2	XM_047436083.1: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	(C)₁₁=	del(C)₆	del(C)₅	del(C)₄	delCCC	delCC	delC	dupC	dupCC	dup(C)₈	dup(C)₉	dup(C)₁₁	ins(C)₁₂
GRCh38.p14 chr 17	NC_000017.11:g.44770489_44770499=	NC_000017.11:g.44770494_44770499del	NC_000017.11:g.44770495_44770499del	NC_000017.11:g.44770496_44770499del	NC_000017.11:g.44770497_44770499del	NC_000017.11:g.44770498_44770499del	NC_000017.11:g.44770499del	NC_000017.11:g.44770499dup	NC_000017.11:g.44770498_44770499dup	NC_000017.11:g.44770492_44770499dup	NC_000017.11:g.44770491_44770499dup	NC_000017.11:g.44770489_44770499dup	NC_000017.11:g.44770499_44770500insCCCCCCCCCCCC
GRCh37.p13 chr 17	NC_000017.10:g.42847857_42847867=	NC_000017.10:g.42847862_42847867del	NC_000017.10:g.42847863_42847867del	NC_000017.10:g.42847864_42847867del	NC_000017.10:g.42847865_42847867del	NC_000017.10:g.42847866_42847867del	NC_000017.10:g.42847867del	NC_000017.10:g.42847867dup	NC_000017.10:g.42847866_42847867dup	NC_000017.10:g.42847860_42847867dup	NC_000017.10:g.42847859_42847867dup	NC_000017.10:g.42847857_42847867dup	NC_000017.10:g.42847867_42847868insCCCCCCCCCCCC
ADAM11 transcript variant 3	NM_001318933.2:c.-216+441=	NM_001318933.2:c.-216+446_-216+451del	NM_001318933.2:c.-216+447_-216+451del	NM_001318933.2:c.-216+448_-216+451del	NM_001318933.2:c.-216+449_-216+451del	NM_001318933.2:c.-216+450_-216+451del	NM_001318933.2:c.-216+451del	NM_001318933.2:c.-216+451dup	NM_001318933.2:c.-216+450_-216+451dup	NM_001318933.2:c.-216+444_-216+451dup	NM_001318933.2:c.-216+443_-216+451dup	NM_001318933.2:c.-216+441_-216+451dup	NM_001318933.2:c.-216+451_-216+452insCCCCCCCCCCCC
ADAM11 transcript	NM_002390.4:c.381+441=	NM_002390.4:c.381+446_381+451del	NM_002390.4:c.381+447_381+451del	NM_002390.4:c.381+448_381+451del	NM_002390.4:c.381+449_381+451del	NM_002390.4:c.381+450_381+451del	NM_002390.4:c.381+451del	NM_002390.4:c.381+451dup	NM_002390.4:c.381+450_381+451dup	NM_002390.4:c.381+444_381+451dup	NM_002390.4:c.381+443_381+451dup	NM_002390.4:c.381+441_381+451dup	NM_002390.4:c.381+451_381+452insCCCCCCCCCCCC
ADAM11 transcript variant 1	NM_002390.6:c.381+441=	NM_002390.6:c.381+446_381+451del	NM_002390.6:c.381+447_381+451del	NM_002390.6:c.381+448_381+451del	NM_002390.6:c.381+449_381+451del	NM_002390.6:c.381+450_381+451del	NM_002390.6:c.381+451del	NM_002390.6:c.381+451dup	NM_002390.6:c.381+450_381+451dup	NM_002390.6:c.381+444_381+451dup	NM_002390.6:c.381+443_381+451dup	NM_002390.6:c.381+441_381+451dup	NM_002390.6:c.381+451_381+452insCCCCCCCCCCCC
ADAM11 transcript variant X1	XM_005257373.1:c.381+441=	XM_005257373.1:c.381+446_381+451del	XM_005257373.1:c.381+447_381+451del	XM_005257373.1:c.381+448_381+451del	XM_005257373.1:c.381+449_381+451del	XM_005257373.1:c.381+450_381+451del	XM_005257373.1:c.381+451del	XM_005257373.1:c.381+451dup	XM_005257373.1:c.381+450_381+451dup	XM_005257373.1:c.381+444_381+451dup	XM_005257373.1:c.381+443_381+451dup	XM_005257373.1:c.381+441_381+451dup	XM_005257373.1:c.381+451_381+452insCCCCCCCCCCCC
ADAM11 transcript variant X1	XM_005257373.5:c.381+441=	XM_005257373.5:c.381+446_381+451del	XM_005257373.5:c.381+447_381+451del	XM_005257373.5:c.381+448_381+451del	XM_005257373.5:c.381+449_381+451del	XM_005257373.5:c.381+450_381+451del	XM_005257373.5:c.381+451del	XM_005257373.5:c.381+451dup	XM_005257373.5:c.381+450_381+451dup	XM_005257373.5:c.381+444_381+451dup	XM_005257373.5:c.381+443_381+451dup	XM_005257373.5:c.381+441_381+451dup	XM_005257373.5:c.381+451_381+452insCCCCCCCCCCCC
ADAM11 transcript variant X2	XM_005257374.1:c.-216+441=	XM_005257374.1:c.-216+446_-216+451del	XM_005257374.1:c.-216+447_-216+451del	XM_005257374.1:c.-216+448_-216+451del	XM_005257374.1:c.-216+449_-216+451del	XM_005257374.1:c.-216+450_-216+451del	XM_005257374.1:c.-216+451del	XM_005257374.1:c.-216+451dup	XM_005257374.1:c.-216+450_-216+451dup	XM_005257374.1:c.-216+444_-216+451dup	XM_005257374.1:c.-216+443_-216+451dup	XM_005257374.1:c.-216+441_-216+451dup	XM_005257374.1:c.-216+451_-216+452insCCCCCCCCCCCC
ADAM11 transcript variant X3	XM_005257375.1:c.-216+441=	XM_005257375.1:c.-216+446_-216+451del	XM_005257375.1:c.-216+447_-216+451del	XM_005257375.1:c.-216+448_-216+451del	XM_005257375.1:c.-216+449_-216+451del	XM_005257375.1:c.-216+450_-216+451del	XM_005257375.1:c.-216+451del	XM_005257375.1:c.-216+451dup	XM_005257375.1:c.-216+450_-216+451dup	XM_005257375.1:c.-216+444_-216+451dup	XM_005257375.1:c.-216+443_-216+451dup	XM_005257375.1:c.-216+441_-216+451dup	XM_005257375.1:c.-216+451_-216+452insCCCCCCCCCCCC

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#.

29 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	EVA_GENOME_DK	ss1575051603	Apr 01, 2015 (144)
2	EVA_UK10K_ALSPAC	ss1708764793	Apr 01, 2015 (144)
3	EVA_UK10K_TWINSUK	ss1708764841	Apr 01, 2015 (144)
4	EVA_UK10K_ALSPAC	ss1710731866	Apr 01, 2015 (144)
5	EVA_UK10K_TWINSUK	ss1710731983	Apr 01, 2015 (144)
6	SWEGEN	ss3015560162	Nov 08, 2017 (151)
7	EVA_DECODE	ss3700497098	Jul 13, 2019 (153)
8	EVA_DECODE	ss3700497099	Jul 13, 2019 (153)
9	EVA_DECODE	ss3700497100	Jul 13, 2019 (153)
10	EVA_DECODE	ss3700497101	Jul 13, 2019 (153)
11	EVA_DECODE	ss3700497102	Jul 13, 2019 (153)
12	EVA_DECODE	ss3700497103	Jul 13, 2019 (153)
13	EVA	ss3834874612	Apr 27, 2020 (154)
14	GNOMAD	ss4311896770	Apr 27, 2021 (155)
15	GNOMAD	ss4311896786	Apr 27, 2021 (155)
16	GNOMAD	ss4311896787	Apr 27, 2021 (155)
17	GNOMAD	ss4311896788	Apr 27, 2021 (155)
18	GNOMAD	ss4311896789	Apr 27, 2021 (155)
19	GNOMAD	ss4311896790	Apr 27, 2021 (155)
20	GNOMAD	ss4311896791	Apr 27, 2021 (155)
21	GNOMAD	ss4311896792	Apr 27, 2021 (155)
22	GNOMAD	ss4311896793	Apr 27, 2021 (155)
23	GNOMAD	ss4311896794	Apr 27, 2021 (155)
24	TOMMO_GENOMICS	ss5222491081	Apr 27, 2021 (155)
25	TOMMO_GENOMICS	ss5222491082	Apr 27, 2021 (155)
26	HUGCELL_USP	ss5496238284	Oct 16, 2022 (156)
27	HUGCELL_USP	ss5496238285	Oct 16, 2022 (156)
28	TOMMO_GENOMICS	ss5778727572	Oct 16, 2022 (156)
29	TOMMO_GENOMICS	ss5778727573	Oct 16, 2022 (156)
30	The Avon Longitudinal Study of Parents and Children	NC_000017.10 - 42847857	Oct 12, 2018 (152)
31	The Danish reference pan genome	NC_000017.10 - 42847857	Apr 27, 2020 (154)
32	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507713812 (NC_000017.11:44770488::C 315/55930) Row 507713828 (NC_000017.11:44770488::CC 4/56050) Row 507713829 (NC_000017.11:44770488::CCCCCCCC 43/56046)...	-	Apr 27, 2021 (155)
33	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507713812 (NC_000017.11:44770488::C 315/55930) Row 507713828 (NC_000017.11:44770488::CC 4/56050) Row 507713829 (NC_000017.11:44770488::CCCCCCCC 43/56046)...	-	Apr 27, 2021 (155)
34	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507713812 (NC_000017.11:44770488::C 315/55930) Row 507713828 (NC_000017.11:44770488::CC 4/56050) Row 507713829 (NC_000017.11:44770488::CCCCCCCC 43/56046)...	-	Apr 27, 2021 (155)
35	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507713812 (NC_000017.11:44770488::C 315/55930) Row 507713828 (NC_000017.11:44770488::CC 4/56050) Row 507713829 (NC_000017.11:44770488::CCCCCCCC 43/56046)...	-	Apr 27, 2021 (155)
36	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507713812 (NC_000017.11:44770488::C 315/55930) Row 507713828 (NC_000017.11:44770488::CC 4/56050) Row 507713829 (NC_000017.11:44770488::CCCCCCCC 43/56046)...	-	Apr 27, 2021 (155)
37	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507713812 (NC_000017.11:44770488::C 315/55930) Row 507713828 (NC_000017.11:44770488::CC 4/56050) Row 507713829 (NC_000017.11:44770488::CCCCCCCC 43/56046)...	-	Apr 27, 2021 (155)
38	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507713812 (NC_000017.11:44770488::C 315/55930) Row 507713828 (NC_000017.11:44770488::CC 4/56050) Row 507713829 (NC_000017.11:44770488::CCCCCCCC 43/56046)...	-	Apr 27, 2021 (155)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507713812 (NC_000017.11:44770488::C 315/55930) Row 507713828 (NC_000017.11:44770488::CC 4/56050) Row 507713829 (NC_000017.11:44770488::CCCCCCCC 43/56046)...	-	Apr 27, 2021 (155)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507713812 (NC_000017.11:44770488::C 315/55930) Row 507713828 (NC_000017.11:44770488::CC 4/56050) Row 507713829 (NC_000017.11:44770488::CCCCCCCC 43/56046)...	-	Apr 27, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507713812 (NC_000017.11:44770488::C 315/55930) Row 507713828 (NC_000017.11:44770488::CC 4/56050) Row 507713829 (NC_000017.11:44770488::CCCCCCCC 43/56046)...	-	Apr 27, 2021 (155)
42	8.3KJPN Submission ignored due to conflicting rows: Row 80460388 (NC_000017.10:42847856:C: 415/8688) Row 80460389 (NC_000017.10:42847856::C 6/8688)	-	Apr 27, 2021 (155)
43	8.3KJPN Submission ignored due to conflicting rows: Row 80460388 (NC_000017.10:42847856:C: 415/8688) Row 80460389 (NC_000017.10:42847856::C 6/8688)	-	Apr 27, 2021 (155)
44	14KJPN Submission ignored due to conflicting rows: Row 112564676 (NC_000017.11:44770488:C: 768/28252) Row 112564677 (NC_000017.11:44770488::C 17/28252)	-	Oct 16, 2022 (156)
45	14KJPN Submission ignored due to conflicting rows: Row 112564676 (NC_000017.11:44770488:C: 768/28252) Row 112564677 (NC_000017.11:44770488::C 17/28252)	-	Oct 16, 2022 (156)
46	UK 10K study - Twins	-	Oct 12, 2018 (152)
47	UK 10K study - Twins Submission ignored due to conflicting rows: Row 39881611 (NC_000017.10:42847856:CCCCC: 1699/3708) Row 39881612 (NC_000017.10:42847860:C: 569/3708)	-	Apr 27, 2020 (154)
48	ALFA	NC_000017.11 - 44770489	Apr 27, 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
ss3700497103	NC_000017.11:44770488:CCCCCC:	NC_000017.11:44770488:CCCCCCCCCCC:… NC_000017.11:44770488:CCCCCCCCCCC:CCCCC	(self)
39881611, ss1708764793, ss1708764841	NC_000017.10:42847856:CCCCC:	NC_000017.11:44770488:CCCCCCCCCCC:… NC_000017.11:44770488:CCCCCCCCCCC:CCCCCC	(self)
ss3700497102	NC_000017.11:44770489:CCCCC:	NC_000017.11:44770488:CCCCCCCCCCC:… NC_000017.11:44770488:CCCCCCCCCCC:CCCCCC	(self)
ss4311896794	NC_000017.11:44770488:CCCC:	NC_000017.11:44770488:CCCCCCCCCCC:… NC_000017.11:44770488:CCCCCCCCCCC:CCCCCCC	(self)
2141436234	NC_000017.11:44770488:CCCCCCCCCCC:… NC_000017.11:44770488:CCCCCCCCCCC:CCCCCCC	NC_000017.11:44770488:CCCCCCCCCCC:… NC_000017.11:44770488:CCCCCCCCCCC:CCCCCCC	(self)
ss3700497101	NC_000017.11:44770490:CCCC:	NC_000017.11:44770488:CCCCCCCCCCC:… NC_000017.11:44770488:CCCCCCCCCCC:CCCCCCC	(self)
ss4311896793	NC_000017.11:44770488:CCC:	NC_000017.11:44770488:CCCCCCCCCCC:… NC_000017.11:44770488:CCCCCCCCCCC:CCCCCCCC	(self)
2141436234	NC_000017.11:44770488:CCCCCCCCCCC:… NC_000017.11:44770488:CCCCCCCCCCC:CCCCCCCC	NC_000017.11:44770488:CCCCCCCCCCC:… NC_000017.11:44770488:CCCCCCCCCCC:CCCCCCCC	(self)
ss3700497100	NC_000017.11:44770491:CCC:	NC_000017.11:44770488:CCCCCCCCCCC:… NC_000017.11:44770488:CCCCCCCCCCC:CCCCCCCC	(self)
ss3834874612	NC_000017.10:42847856:CC:	NC_000017.11:44770488:CCCCCCCCCCC:… NC_000017.11:44770488:CCCCCCCCCCC:CCCCCCCCC	(self)
ss4311896792, ss5496238285	NC_000017.11:44770488:CC:	NC_000017.11:44770488:CCCCCCCCCCC:… NC_000017.11:44770488:CCCCCCCCCCC:CCCCCCCCC	(self)
2141436234	NC_000017.11:44770488:CCCCCCCCCCC:… NC_000017.11:44770488:CCCCCCCCCCC:CCCCCCCCC	NC_000017.11:44770488:CCCCCCCCCCC:… NC_000017.11:44770488:CCCCCCCCCCC:CCCCCCCCC	(self)
562561, ss1575051603, ss3015560162, ss5222491081	NC_000017.10:42847856:C:	NC_000017.11:44770488:CCCCCCCCCCC:… NC_000017.11:44770488:CCCCCCCCCCC:CCCCCCCCCC	(self)
ss1710731866, ss1710731983	NC_000017.10:42847860:C:	NC_000017.11:44770488:CCCCCCCCCCC:… NC_000017.11:44770488:CCCCCCCCCCC:CCCCCCCCCC	(self)
ss4311896791, ss5496238284, ss5778727572	NC_000017.11:44770488:C:	NC_000017.11:44770488:CCCCCCCCCCC:… NC_000017.11:44770488:CCCCCCCCCCC:CCCCCCCCCC	(self)
2141436234	NC_000017.11:44770488:CCCCCCCCCCC:… NC_000017.11:44770488:CCCCCCCCCCC:CCCCCCCCCC	NC_000017.11:44770488:CCCCCCCCCCC:… NC_000017.11:44770488:CCCCCCCCCCC:CCCCCCCCCC	(self)
ss3700497099	NC_000017.11:44770493:C:	NC_000017.11:44770488:CCCCCCCCCCC:… NC_000017.11:44770488:CCCCCCCCCCC:CCCCCCCCCC	(self)
ss5222491082	NC_000017.10:42847856::C	NC_000017.11:44770488:CCCCCCCCCCC:… NC_000017.11:44770488:CCCCCCCCCCC:CCCCCCCCCCCC	(self)
ss4311896770, ss5778727573	NC_000017.11:44770488::C	NC_000017.11:44770488:CCCCCCCCCCC:… NC_000017.11:44770488:CCCCCCCCCCC:CCCCCCCCCCCC	(self)
2141436234	NC_000017.11:44770488:CCCCCCCCCCC:… NC_000017.11:44770488:CCCCCCCCCCC:CCCCCCCCCCCC	NC_000017.11:44770488:CCCCCCCCCCC:… NC_000017.11:44770488:CCCCCCCCCCC:CCCCCCCCCCCC	(self)
ss3700497098	NC_000017.11:44770494::C	NC_000017.11:44770488:CCCCCCCCCCC:… NC_000017.11:44770488:CCCCCCCCCCC:CCCCCCCCCCCC	(self)
ss4311896786	NC_000017.11:44770488::CC	NC_000017.11:44770488:CCCCCCCCCCC:… NC_000017.11:44770488:CCCCCCCCCCC:CCCCCCCCCCCCC	(self)
2141436234	NC_000017.11:44770488:CCCCCCCCCCC:… NC_000017.11:44770488:CCCCCCCCCCC:CCCCCCCCCCCCC	NC_000017.11:44770488:CCCCCCCCCCC:… NC_000017.11:44770488:CCCCCCCCCCC:CCCCCCCCCCCCC	(self)
ss4311896787	NC_000017.11:44770488::CCCCCCCC	NC_000017.11:44770488:CCCCCCCCCCC:… NC_000017.11:44770488:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCC	(self)
ss4311896788	NC_000017.11:44770488::CCCCCCCCC	NC_000017.11:44770488:CCCCCCCCCCC:… NC_000017.11:44770488:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCC	(self)
ss4311896789	NC_000017.11:44770488::CCCCCCCCCCC	NC_000017.11:44770488:CCCCCCCCCCC:… NC_000017.11:44770488:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCC	(self)
ss4311896790	NC_000017.11:44770488::CCCCCCCCCCCC	NC_000017.11:44770488:CCCCCCCCCCC:… NC_000017.11:44770488:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCC	(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 rs754119100

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

rs754119100