Name: rs57128027
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.

rs57128027

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:28722246-28722263 (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)₈ / del(A)₇ / del(A)₆ / del(…
del(A)₈ / del(A)₇ / del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA
Variation Type: Indel Insertion and Deletion
Frequency: dupA=0.0100 (37/3708, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: RPL23A : Intron Variant
SNORD42A : 2KB Upstream Variant
SNORD4A : 2KB Upstream Variant (+ 1 more)
SNORD4B : 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	Alt HMOZ	HTRZ	HWEP
Total	Global	3708	AAAAAAAAAAAAAAAAAA=0.9900	AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0100, AAAAAAAAAAAAAAAAAAAA=0.0000	0.980583	0.000539	0.018878	2
European	Sub	2454	AAAAAAAAAAAAAAAAAA=0.9866	AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0134, AAAAAAAAAAAAAAAAAAAA=0.0000	0.97392	0.000815	0.025265	2
African	Sub	1088	AAAAAAAAAAAAAAAAAA=0.9972	AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0028, AAAAAAAAAAAAAAAAAAAA=0.0000	0.994485	0.0	0.005515	0
African Others	Sub	62	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	1026	AAAAAAAAAAAAAAAAAA=0.9971	AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0029, AAAAAAAAAAAAAAAAAAAA=0.0000	0.994152	0.0	0.005848	0
Asian	Sub	10	AAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
East Asian	Sub	8	AAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other Asian	Sub	2	AAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	26	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	40	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	6	AAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other	Sub	84	AAAAAAAAAAAAAAAAAA=0.99	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.01, AAAAAAAAAAAAAAAAAAAA=0.00	0.97619	0.0	0.02381	0

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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	3708	(A)₁₈=0.9900	del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0100, dupAA=0.0000
Allele Frequency Aggregator	European	Sub	2454	(A)₁₈=0.9866	del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0134, dupAA=0.0000
Allele Frequency Aggregator	African	Sub	1088	(A)₁₈=0.9972	del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0028, dupAA=0.0000
Allele Frequency Aggregator	Other	Sub	84	(A)₁₈=0.99	del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.01, dupAA=0.00
Allele Frequency Aggregator	Latin American 2	Sub	40	(A)₁₈=1.00	del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator	Latin American 1	Sub	26	(A)₁₈=1.00	del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator	Asian	Sub	10	(A)₁₈=1.0	del(A)₈=0.0, del(A)₇=0.0, del(A)₆=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0
Allele Frequency Aggregator	South Asian	Sub	6	(A)₁₈=1.0	del(A)₈=0.0, del(A)₇=0.0, del(A)₆=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=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 17	NC_000017.11:g.28722256_28722263del
GRCh38.p14 chr 17	NC_000017.11:g.28722257_28722263del
GRCh38.p14 chr 17	NC_000017.11:g.28722258_28722263del
GRCh38.p14 chr 17	NC_000017.11:g.28722259_28722263del
GRCh38.p14 chr 17	NC_000017.11:g.28722260_28722263del
GRCh38.p14 chr 17	NC_000017.11:g.28722261_28722263del
GRCh38.p14 chr 17	NC_000017.11:g.28722262_28722263del
GRCh38.p14 chr 17	NC_000017.11:g.28722263del
GRCh38.p14 chr 17	NC_000017.11:g.28722263dup
GRCh38.p14 chr 17	NC_000017.11:g.28722262_28722263dup
GRCh37.p13 chr 17	NC_000017.10:g.27049274_27049281del
GRCh37.p13 chr 17	NC_000017.10:g.27049275_27049281del
GRCh37.p13 chr 17	NC_000017.10:g.27049276_27049281del
GRCh37.p13 chr 17	NC_000017.10:g.27049277_27049281del
GRCh37.p13 chr 17	NC_000017.10:g.27049278_27049281del
GRCh37.p13 chr 17	NC_000017.10:g.27049279_27049281del
GRCh37.p13 chr 17	NC_000017.10:g.27049280_27049281del
GRCh37.p13 chr 17	NC_000017.10:g.27049281del
GRCh37.p13 chr 17	NC_000017.10:g.27049281dup
GRCh37.p13 chr 17	NC_000017.10:g.27049280_27049281dup

Gene: RPL23A, ribosomal protein L23a (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RPL23A transcript	NM_000984.6:c.210-467_210… NM_000984.6:c.210-467_210-460del	N/A	Intron Variant

Gene: SNORD4B, small nucleolar RNA, C/D box 4B (plus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
SNORD4B transcript	NR_000009.1:n.	N/A	Upstream Transcript Variant

Gene: SNORD4A, small nucleolar RNA, C/D box 4A (plus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
SNORD4A transcript	NR_000010.1:n.	N/A	Upstream Transcript Variant

Gene: SNORD42A, small nucleolar RNA, C/D box 42A (plus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
SNORD42A transcript	NR_000014.2:n.	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)₁₈=	del(A)₈	del(A)₇	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA
GRCh38.p14 chr 17	NC_000017.11:g.28722246_28722263=	NC_000017.11:g.28722256_28722263del	NC_000017.11:g.28722257_28722263del	NC_000017.11:g.28722258_28722263del	NC_000017.11:g.28722259_28722263del	NC_000017.11:g.28722260_28722263del	NC_000017.11:g.28722261_28722263del	NC_000017.11:g.28722262_28722263del	NC_000017.11:g.28722263del	NC_000017.11:g.28722263dup	NC_000017.11:g.28722262_28722263dup
GRCh37.p13 chr 17	NC_000017.10:g.27049264_27049281=	NC_000017.10:g.27049274_27049281del	NC_000017.10:g.27049275_27049281del	NC_000017.10:g.27049276_27049281del	NC_000017.10:g.27049277_27049281del	NC_000017.10:g.27049278_27049281del	NC_000017.10:g.27049279_27049281del	NC_000017.10:g.27049280_27049281del	NC_000017.10:g.27049281del	NC_000017.10:g.27049281dup	NC_000017.10:g.27049280_27049281dup
RPL23A transcript	NM_000984.5:c.210-477=	NM_000984.5:c.210-467_210-460del	NM_000984.5:c.210-466_210-460del	NM_000984.5:c.210-465_210-460del	NM_000984.5:c.210-464_210-460del	NM_000984.5:c.210-463_210-460del	NM_000984.5:c.210-462_210-460del	NM_000984.5:c.210-461_210-460del	NM_000984.5:c.210-460del	NM_000984.5:c.210-460dup	NM_000984.5:c.210-461_210-460dup
RPL23A transcript	NM_000984.6:c.210-477=	NM_000984.6:c.210-467_210-460del	NM_000984.6:c.210-466_210-460del	NM_000984.6:c.210-465_210-460del	NM_000984.6:c.210-464_210-460del	NM_000984.6:c.210-463_210-460del	NM_000984.6:c.210-462_210-460del	NM_000984.6:c.210-461_210-460del	NM_000984.6:c.210-460del	NM_000984.6:c.210-460dup	NM_000984.6:c.210-461_210-460dup
RPL23A transcript variant X1	XM_005258017.1:c.324-477=	XM_005258017.1:c.324-467_324-460del	XM_005258017.1:c.324-466_324-460del	XM_005258017.1:c.324-465_324-460del	XM_005258017.1:c.324-464_324-460del	XM_005258017.1:c.324-463_324-460del	XM_005258017.1:c.324-462_324-460del	XM_005258017.1:c.324-461_324-460del	XM_005258017.1:c.324-460del	XM_005258017.1:c.324-460dup	XM_005258017.1:c.324-461_324-460dup
RPL23A transcript variant X2	XM_005258018.1:c.210-477=	XM_005258018.1:c.210-467_210-460del	XM_005258018.1:c.210-466_210-460del	XM_005258018.1:c.210-465_210-460del	XM_005258018.1:c.210-464_210-460del	XM_005258018.1:c.210-463_210-460del	XM_005258018.1:c.210-462_210-460del	XM_005258018.1:c.210-461_210-460del	XM_005258018.1:c.210-460del	XM_005258018.1:c.210-460dup	XM_005258018.1:c.210-461_210-460dup

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#.

45 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss81773171	Sep 08, 2015 (146)
2	PJP	ss294909004	May 09, 2011 (135)
3	SSMP	ss664349840	Apr 01, 2015 (144)
4	BILGI_BIOE	ss666688300	Apr 25, 2013 (138)
5	EVA_UK10K_ALSPAC	ss1708722644	Apr 01, 2015 (144)
6	EVA_UK10K_TWINSUK	ss1708722646	Apr 01, 2015 (144)
7	EVA_UK10K_TWINSUK	ss1710726032	Apr 01, 2015 (144)
8	EVA_UK10K_ALSPAC	ss1710726035	Apr 01, 2015 (144)
9	SWEGEN	ss3015381810	Nov 08, 2017 (151)
10	URBANLAB	ss3650634205	Oct 12, 2018 (152)
11	EVA_DECODE	ss3700285202	Jul 13, 2019 (153)
12	EVA_DECODE	ss3700285203	Jul 13, 2019 (153)
13	EVA_DECODE	ss3700285204	Jul 13, 2019 (153)
14	EVA_DECODE	ss3700285205	Jul 13, 2019 (153)
15	EVA_DECODE	ss3700285206	Jul 13, 2019 (153)
16	EVA_DECODE	ss3700285207	Jul 13, 2019 (153)
17	PACBIO	ss3788178510	Jul 13, 2019 (153)
18	PACBIO	ss3793141372	Jul 13, 2019 (153)
19	PACBIO	ss3798027257	Jul 13, 2019 (153)
20	GNOMAD	ss4309908574	Apr 26, 2021 (155)
21	GNOMAD	ss4309908575	Apr 26, 2021 (155)
22	GNOMAD	ss4309908576	Apr 26, 2021 (155)
23	GNOMAD	ss4309908577	Apr 26, 2021 (155)
24	GNOMAD	ss4309908578	Apr 26, 2021 (155)
25	GNOMAD	ss4309908579	Apr 26, 2021 (155)
26	GNOMAD	ss4309908580	Apr 26, 2021 (155)
27	GNOMAD	ss4309908581	Apr 26, 2021 (155)
28	TOMMO_GENOMICS	ss5221969219	Apr 26, 2021 (155)
29	TOMMO_GENOMICS	ss5221969220	Apr 26, 2021 (155)
30	TOMMO_GENOMICS	ss5221969221	Apr 26, 2021 (155)
31	TOMMO_GENOMICS	ss5221969222	Apr 26, 2021 (155)
32	TOMMO_GENOMICS	ss5221969223	Apr 26, 2021 (155)
33	TOMMO_GENOMICS	ss5221969224	Apr 26, 2021 (155)
34	1000G_HIGH_COVERAGE	ss5302803414	Oct 17, 2022 (156)
35	1000G_HIGH_COVERAGE	ss5302803415	Oct 17, 2022 (156)
36	1000G_HIGH_COVERAGE	ss5302803416	Oct 17, 2022 (156)
37	1000G_HIGH_COVERAGE	ss5302803417	Oct 17, 2022 (156)
38	HUGCELL_USP	ss5495904952	Oct 17, 2022 (156)
39	HUGCELL_USP	ss5495904953	Oct 17, 2022 (156)
40	HUGCELL_USP	ss5495904954	Oct 17, 2022 (156)
41	TOMMO_GENOMICS	ss5778034543	Oct 17, 2022 (156)
42	TOMMO_GENOMICS	ss5778034544	Oct 17, 2022 (156)
43	TOMMO_GENOMICS	ss5778034545	Oct 17, 2022 (156)
44	TOMMO_GENOMICS	ss5778034546	Oct 17, 2022 (156)
45	TOMMO_GENOMICS	ss5778034547	Oct 17, 2022 (156)
46	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 39644903 (NC_000017.10:27049264:A: 3417/3854) Row 39644904 (NC_000017.10:27049263:AAA: 373/3854)	-	Oct 12, 2018 (152)
47	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 39644903 (NC_000017.10:27049264:A: 3417/3854) Row 39644904 (NC_000017.10:27049263:AAA: 373/3854)	-	Oct 12, 2018 (152)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 504501536 (NC_000017.11:28722245::A 2685/116620) Row 504501537 (NC_000017.11:28722245::AA 22/116688) Row 504501538 (NC_000017.11:28722245:A: 17415/116404)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 504501536 (NC_000017.11:28722245::A 2685/116620) Row 504501537 (NC_000017.11:28722245::AA 22/116688) Row 504501538 (NC_000017.11:28722245:A: 17415/116404)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 504501536 (NC_000017.11:28722245::A 2685/116620) Row 504501537 (NC_000017.11:28722245::AA 22/116688) Row 504501538 (NC_000017.11:28722245:A: 17415/116404)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 504501536 (NC_000017.11:28722245::A 2685/116620) Row 504501537 (NC_000017.11:28722245::AA 22/116688) Row 504501538 (NC_000017.11:28722245:A: 17415/116404)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 504501536 (NC_000017.11:28722245::A 2685/116620) Row 504501537 (NC_000017.11:28722245::AA 22/116688) Row 504501538 (NC_000017.11:28722245:A: 17415/116404)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 504501536 (NC_000017.11:28722245::A 2685/116620) Row 504501537 (NC_000017.11:28722245::AA 22/116688) Row 504501538 (NC_000017.11:28722245:A: 17415/116404)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 504501536 (NC_000017.11:28722245::A 2685/116620) Row 504501537 (NC_000017.11:28722245::AA 22/116688) Row 504501538 (NC_000017.11:28722245:A: 17415/116404)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 504501536 (NC_000017.11:28722245::A 2685/116620) Row 504501537 (NC_000017.11:28722245::AA 22/116688) Row 504501538 (NC_000017.11:28722245:A: 17415/116404)...	-	Apr 26, 2021 (155)
56	8.3KJPN Submission ignored due to conflicting rows: Row 79938526 (NC_000017.10:27049263:AA: 10207/16678) Row 79938527 (NC_000017.10:27049263:A: 2865/16678) Row 79938528 (NC_000017.10:27049263:AAA: 7/16678)...	-	Apr 26, 2021 (155)
57	8.3KJPN Submission ignored due to conflicting rows: Row 79938526 (NC_000017.10:27049263:AA: 10207/16678) Row 79938527 (NC_000017.10:27049263:A: 2865/16678) Row 79938528 (NC_000017.10:27049263:AAA: 7/16678)...	-	Apr 26, 2021 (155)
58	8.3KJPN Submission ignored due to conflicting rows: Row 79938526 (NC_000017.10:27049263:AA: 10207/16678) Row 79938527 (NC_000017.10:27049263:A: 2865/16678) Row 79938528 (NC_000017.10:27049263:AAA: 7/16678)...	-	Apr 26, 2021 (155)
59	8.3KJPN Submission ignored due to conflicting rows: Row 79938526 (NC_000017.10:27049263:AA: 10207/16678) Row 79938527 (NC_000017.10:27049263:A: 2865/16678) Row 79938528 (NC_000017.10:27049263:AAA: 7/16678)...	-	Apr 26, 2021 (155)
60	8.3KJPN Submission ignored due to conflicting rows: Row 79938526 (NC_000017.10:27049263:AA: 10207/16678) Row 79938527 (NC_000017.10:27049263:A: 2865/16678) Row 79938528 (NC_000017.10:27049263:AAA: 7/16678)...	-	Apr 26, 2021 (155)
61	8.3KJPN Submission ignored due to conflicting rows: Row 79938526 (NC_000017.10:27049263:AA: 10207/16678) Row 79938527 (NC_000017.10:27049263:A: 2865/16678) Row 79938528 (NC_000017.10:27049263:AAA: 7/16678)...	-	Apr 26, 2021 (155)
62	14KJPN Submission ignored due to conflicting rows: Row 111871647 (NC_000017.11:28722245:A: 5008/28226) Row 111871648 (NC_000017.11:28722245:AA: 17450/28226) Row 111871649 (NC_000017.11:28722245:AAA: 15/28226)...	-	Oct 17, 2022 (156)
63	14KJPN Submission ignored due to conflicting rows: Row 111871647 (NC_000017.11:28722245:A: 5008/28226) Row 111871648 (NC_000017.11:28722245:AA: 17450/28226) Row 111871649 (NC_000017.11:28722245:AAA: 15/28226)...	-	Oct 17, 2022 (156)
64	14KJPN Submission ignored due to conflicting rows: Row 111871647 (NC_000017.11:28722245:A: 5008/28226) Row 111871648 (NC_000017.11:28722245:AA: 17450/28226) Row 111871649 (NC_000017.11:28722245:AAA: 15/28226)...	-	Oct 17, 2022 (156)
65	14KJPN Submission ignored due to conflicting rows: Row 111871647 (NC_000017.11:28722245:A: 5008/28226) Row 111871648 (NC_000017.11:28722245:AA: 17450/28226) Row 111871649 (NC_000017.11:28722245:AAA: 15/28226)...	-	Oct 17, 2022 (156)
66	14KJPN Submission ignored due to conflicting rows: Row 111871647 (NC_000017.11:28722245:A: 5008/28226) Row 111871648 (NC_000017.11:28722245:AA: 17450/28226) Row 111871649 (NC_000017.11:28722245:AAA: 15/28226)...	-	Oct 17, 2022 (156)
67	UK 10K study - Twins Submission ignored due to conflicting rows: Row 39644903 (NC_000017.10:27049264:A: 3385/3708) Row 39644904 (NC_000017.10:27049263:AAA: 267/3708)	-	Oct 12, 2018 (152)
68	UK 10K study - Twins Submission ignored due to conflicting rows: Row 39644903 (NC_000017.10:27049264:A: 3385/3708) Row 39644904 (NC_000017.10:27049263:AAA: 267/3708)	-	Oct 12, 2018 (152)
69	ALFA	NC_000017.11 - 28722246	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)
rs139811545	Sep 17, 2011 (135)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
14188150253	NC_000017.11:28722245:AAAAAAAAAAAA… NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000017.11:28722245:AAAAAAAAAAAA… NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss3015381810, ss5221969224	NC_000017.10:27049263:AAAAAAA:	NC_000017.11:28722245:AAAAAAAAAAAA… NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
14188150253	NC_000017.11:28722245:AAAAAAAAAAAA… NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000017.11:28722245:AAAAAAAAAAAA… NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss5221969223	NC_000017.10:27049263:AAAAAA:	NC_000017.11:28722245:AAAAAAAAAAAA… NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4309908581, ss5302803417, ss5778034547	NC_000017.11:28722245:AAAAAA:	NC_000017.11:28722245:AAAAAAAAAAAA… NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
14188150253	NC_000017.11:28722245:AAAAAAAAAAAA… NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000017.11:28722245:AAAAAAAAAAAA… NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss3700285207, ss4309908580	NC_000017.11:28722245:AAAAA:	NC_000017.11:28722245:AAAAAAAAAAAA… NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4309908579	NC_000017.11:28722245:AAAA:	NC_000017.11:28722245:AAAAAAAAAAAA… NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
14188150253	NC_000017.11:28722245:AAAAAAAAAAAA… NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000017.11:28722245:AAAAAAAAAAAA… NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3700285206	NC_000017.11:28722246:AAAA:	NC_000017.11:28722245:AAAAAAAAAAAA… NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss1708722644, ss1708722646, ss5221969221	NC_000017.10:27049263:AAA:	NC_000017.11:28722245:AAAAAAAAAAAA… NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4309908578, ss5778034545	NC_000017.11:28722245:AAA:	NC_000017.11:28722245:AAAAAAAAAAAA… NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
14188150253	NC_000017.11:28722245:AAAAAAAAAAAA… NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000017.11:28722245:AAAAAAAAAAAA… NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3700285205	NC_000017.11:28722247:AAA:	NC_000017.11:28722245:AAAAAAAAAAAA… NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss81773171, ss294909004	NC_000017.9:24073406:AA:	NC_000017.11:28722245:AAAAAAAAAAAA… NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss664349840, ss666688300, ss3788178510, ss3793141372, ss3798027257, ss5221969219	NC_000017.10:27049263:AA:	NC_000017.11:28722245:AAAAAAAAAAAA… NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss1710726032, ss1710726035	NC_000017.10:27049264:AA:	NC_000017.11:28722245:AAAAAAAAAAAA… NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3650634205, ss4309908577, ss5302803414, ss5495904953, ss5778034544	NC_000017.11:28722245:AA:	NC_000017.11:28722245:AAAAAAAAAAAA… NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
14188150253	NC_000017.11:28722245:AAAAAAAAAAAA… NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000017.11:28722245:AAAAAAAAAAAA… NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3700285204	NC_000017.11:28722248:AA:	NC_000017.11:28722245:AAAAAAAAAAAA… NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss5221969220	NC_000017.10:27049263:A:	NC_000017.11:28722245:AAAAAAAAAAAA… NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
	NC_000017.10:27049264:A:	NC_000017.11:28722245:AAAAAAAAAAAA… NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4309908576, ss5302803415, ss5495904952, ss5778034543	NC_000017.11:28722245:A:	NC_000017.11:28722245:AAAAAAAAAAAA… NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
14188150253	NC_000017.11:28722245:AAAAAAAAAAAA… NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000017.11:28722245:AAAAAAAAAAAA… NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3700285203	NC_000017.11:28722249:A:	NC_000017.11:28722245:AAAAAAAAAAAA… NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss5221969222	NC_000017.10:27049263::A	NC_000017.11:28722245:AAAAAAAAAAAA… NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4309908574, ss5302803416, ss5495904954, ss5778034546	NC_000017.11:28722245::A	NC_000017.11:28722245:AAAAAAAAAAAA… NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
14188150253	NC_000017.11:28722245:AAAAAAAAAAAA… NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000017.11:28722245:AAAAAAAAAAAA… NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3700285202	NC_000017.11:28722250::A	NC_000017.11:28722245:AAAAAAAAAAAA… NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4309908575	NC_000017.11:28722245::AA	NC_000017.11:28722245:AAAAAAAAAAAA… NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
14188150253	NC_000017.11:28722245:AAAAAAAAAAAA… NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000017.11:28722245:AAAAAAAAAAAA… NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3260320567	NC_000017.11:28722245:AAAAAAAA:	NC_000017.11:28722245:AAAAAAAAAAAA… NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs57128027

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

rs57128027