Name: rs779187369
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.

rs779187369

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:42753914-42753930 (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(T)₈ / del(T)₇ / del(T)₆ / del(…
del(T)₈ / del(T)₇ / del(T)₆ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅ / dup(T)₆ / dup(T)₈ / dup(T)₉
Variation Type: Indel Insertion and Deletion
Frequency: del(T)₇=0.000106 (28/264690, TOPMED)
dupT=0.00062 (11/17702, ALFA)
dupT=0.42 (17/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: RAMP2-AS1 : Non Coding Transcript 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	HTRZ	HWEP
Total	Global	17702	TTTTTTTTTTTTTTTTT=0.99915	TTTTTTTTT=0.00000, TTTTTTTTTT=0.00000, TTTTTTTTTTT=0.00000, TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00023, TTTTTTTTTTTTTTTTTT=0.00062, TTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTT=0.00000	0.998757	0.001243	0
European	Sub	14096	TTTTTTTTTTTTTTTTT=0.99894	TTTTTTTTT=0.00000, TTTTTTTTTT=0.00000, TTTTTTTTTTT=0.00000, TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00028, TTTTTTTTTTTTTTTTTT=0.00078, TTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTT=0.00000	0.998438	0.001562	0
African	Sub	2202	TTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	N/A
African Others	Sub	92	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	N/A
African American	Sub	2110	TTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	N/A
Asian	Sub	112	TTTTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	N/A
East Asian	Sub	86	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	N/A
Other Asian	Sub	26	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	N/A
Latin American 1	Sub	136	TTTTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	N/A
Latin American 2	Sub	596	TTTTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	N/A
South Asian	Sub	98	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	N/A
Other	Sub	462	TTTTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	N/A

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

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	(T)₁₇=0.999894	del(T)₇=0.000106
Allele Frequency Aggregator	Total	Global	17702	(T)₁₇=0.99915	del(T)₈=0.00000, del(T)₇=0.00000, del(T)₆=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.00023, dupT=0.00062, dupTT=0.00000, dupTTT=0.00000, dup(T)₄=0.00000, dup(T)₅=0.00000, dup(T)₆=0.00000
Allele Frequency Aggregator	European	Sub	14096	(T)₁₇=0.99894	del(T)₈=0.00000, del(T)₇=0.00000, del(T)₆=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.00028, dupT=0.00078, dupTT=0.00000, dupTTT=0.00000, dup(T)₄=0.00000, dup(T)₅=0.00000, dup(T)₆=0.00000
Allele Frequency Aggregator	African	Sub	2202	(T)₁₇=1.0000	del(T)₈=0.0000, del(T)₇=0.0000, del(T)₆=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000, dup(T)₄=0.0000, dup(T)₅=0.0000, dup(T)₆=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	596	(T)₁₇=1.000	del(T)₈=0.000, del(T)₇=0.000, del(T)₆=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000, dup(T)₆=0.000
Allele Frequency Aggregator	Other	Sub	462	(T)₁₇=1.000	del(T)₈=0.000, del(T)₇=0.000, del(T)₆=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000, dup(T)₆=0.000
Allele Frequency Aggregator	Latin American 1	Sub	136	(T)₁₇=1.000	del(T)₈=0.000, del(T)₇=0.000, del(T)₆=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000, dup(T)₆=0.000
Allele Frequency Aggregator	Asian	Sub	112	(T)₁₇=1.000	del(T)₈=0.000, del(T)₇=0.000, del(T)₆=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000, dup(T)₆=0.000
Allele Frequency Aggregator	South Asian	Sub	98	(T)₁₇=1.00	del(T)₈=0.00, del(T)₇=0.00, del(T)₆=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00, dup(T)₆=0.00
The Danish reference pan genome	Danish	Study-wide	40	- No frequency provided	dupT=0.42

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.42753923_42753930del
GRCh38.p14 chr 17	NC_000017.11:g.42753924_42753930del
GRCh38.p14 chr 17	NC_000017.11:g.42753925_42753930del
GRCh38.p14 chr 17	NC_000017.11:g.42753927_42753930del
GRCh38.p14 chr 17	NC_000017.11:g.42753928_42753930del
GRCh38.p14 chr 17	NC_000017.11:g.42753929_42753930del
GRCh38.p14 chr 17	NC_000017.11:g.42753930del
GRCh38.p14 chr 17	NC_000017.11:g.42753930dup
GRCh38.p14 chr 17	NC_000017.11:g.42753929_42753930dup
GRCh38.p14 chr 17	NC_000017.11:g.42753928_42753930dup
GRCh38.p14 chr 17	NC_000017.11:g.42753927_42753930dup
GRCh38.p14 chr 17	NC_000017.11:g.42753926_42753930dup
GRCh38.p14 chr 17	NC_000017.11:g.42753925_42753930dup
GRCh38.p14 chr 17	NC_000017.11:g.42753923_42753930dup
GRCh38.p14 chr 17	NC_000017.11:g.42753922_42753930dup
GRCh37.p13 chr 17	NC_000017.10:g.40905941_40905948del
GRCh37.p13 chr 17	NC_000017.10:g.40905942_40905948del
GRCh37.p13 chr 17	NC_000017.10:g.40905943_40905948del
GRCh37.p13 chr 17	NC_000017.10:g.40905945_40905948del
GRCh37.p13 chr 17	NC_000017.10:g.40905946_40905948del
GRCh37.p13 chr 17	NC_000017.10:g.40905947_40905948del
GRCh37.p13 chr 17	NC_000017.10:g.40905948del
GRCh37.p13 chr 17	NC_000017.10:g.40905948dup
GRCh37.p13 chr 17	NC_000017.10:g.40905947_40905948dup
GRCh37.p13 chr 17	NC_000017.10:g.40905946_40905948dup
GRCh37.p13 chr 17	NC_000017.10:g.40905945_40905948dup
GRCh37.p13 chr 17	NC_000017.10:g.40905944_40905948dup
GRCh37.p13 chr 17	NC_000017.10:g.40905943_40905948dup
GRCh37.p13 chr 17	NC_000017.10:g.40905941_40905948dup
GRCh37.p13 chr 17	NC_000017.10:g.40905940_40905948dup
HMGN2P15 pseudogene	NG_028969.1:g.86_93del
HMGN2P15 pseudogene	NG_028969.1:g.87_93del
HMGN2P15 pseudogene	NG_028969.1:g.88_93del
HMGN2P15 pseudogene	NG_028969.1:g.90_93del
HMGN2P15 pseudogene	NG_028969.1:g.91_93del
HMGN2P15 pseudogene	NG_028969.1:g.92_93del
HMGN2P15 pseudogene	NG_028969.1:g.93del
HMGN2P15 pseudogene	NG_028969.1:g.93dup
HMGN2P15 pseudogene	NG_028969.1:g.92_93dup
HMGN2P15 pseudogene	NG_028969.1:g.91_93dup
HMGN2P15 pseudogene	NG_028969.1:g.90_93dup
HMGN2P15 pseudogene	NG_028969.1:g.89_93dup
HMGN2P15 pseudogene	NG_028969.1:g.88_93dup
HMGN2P15 pseudogene	NG_028969.1:g.86_93dup
HMGN2P15 pseudogene	NG_028969.1:g.85_93dup

Gene: RAMP2-AS1, RAMP2 antisense RNA 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RAMP2-AS1 transcript variant 1	NR_024461.1:n.3265_3272del	N/A	Non Coding Transcript Variant
RAMP2-AS1 transcript variant 1	NR_024461.1:n.3266_3272del	N/A	Non Coding Transcript Variant
RAMP2-AS1 transcript variant 1	NR_024461.1:n.3267_3272del	N/A	Non Coding Transcript Variant
RAMP2-AS1 transcript variant 1	NR_024461.1:n.3269_3272del	N/A	Non Coding Transcript Variant
RAMP2-AS1 transcript variant 1	NR_024461.1:n.3270_3272del	N/A	Non Coding Transcript Variant
RAMP2-AS1 transcript variant 1	NR_024461.1:n.3271_3272del	N/A	Non Coding Transcript Variant
RAMP2-AS1 transcript variant 1	NR_024461.1:n.3272del	N/A	Non Coding Transcript Variant
RAMP2-AS1 transcript variant 1	NR_024461.1:n.3272dup	N/A	Non Coding Transcript Variant
RAMP2-AS1 transcript variant 1	NR_024461.1:n.3271_3272dup	N/A	Non Coding Transcript Variant
RAMP2-AS1 transcript variant 1	NR_024461.1:n.3270_3272dup	N/A	Non Coding Transcript Variant
RAMP2-AS1 transcript variant 1	NR_024461.1:n.3269_3272dup	N/A	Non Coding Transcript Variant
RAMP2-AS1 transcript variant 1	NR_024461.1:n.3268_3272dup	N/A	Non Coding Transcript Variant
RAMP2-AS1 transcript variant 1	NR_024461.1:n.3267_3272dup	N/A	Non Coding Transcript Variant
RAMP2-AS1 transcript variant 1	NR_024461.1:n.3265_3272dup	N/A	Non Coding Transcript Variant
RAMP2-AS1 transcript variant 1	NR_024461.1:n.3264_3272dup	N/A	Non Coding Transcript Variant
RAMP2-AS1 transcript variant 2	NR_024462.1:n.1689_1696del	N/A	Non Coding Transcript Variant
RAMP2-AS1 transcript variant 2	NR_024462.1:n.1690_1696del	N/A	Non Coding Transcript Variant
RAMP2-AS1 transcript variant 2	NR_024462.1:n.1691_1696del	N/A	Non Coding Transcript Variant
RAMP2-AS1 transcript variant 2	NR_024462.1:n.1693_1696del	N/A	Non Coding Transcript Variant
RAMP2-AS1 transcript variant 2	NR_024462.1:n.1694_1696del	N/A	Non Coding Transcript Variant
RAMP2-AS1 transcript variant 2	NR_024462.1:n.1695_1696del	N/A	Non Coding Transcript Variant
RAMP2-AS1 transcript variant 2	NR_024462.1:n.1696del	N/A	Non Coding Transcript Variant
RAMP2-AS1 transcript variant 2	NR_024462.1:n.1696dup	N/A	Non Coding Transcript Variant
RAMP2-AS1 transcript variant 2	NR_024462.1:n.1695_1696dup	N/A	Non Coding Transcript Variant
RAMP2-AS1 transcript variant 2	NR_024462.1:n.1694_1696dup	N/A	Non Coding Transcript Variant
RAMP2-AS1 transcript variant 2	NR_024462.1:n.1693_1696dup	N/A	Non Coding Transcript Variant
RAMP2-AS1 transcript variant 2	NR_024462.1:n.1692_1696dup	N/A	Non Coding Transcript Variant
RAMP2-AS1 transcript variant 2	NR_024462.1:n.1691_1696dup	N/A	Non Coding Transcript Variant
RAMP2-AS1 transcript variant 2	NR_024462.1:n.1689_1696dup	N/A	Non Coding Transcript Variant
RAMP2-AS1 transcript variant 2	NR_024462.1:n.1688_1696dup	N/A	Non Coding 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	(T)₁₇=	del(T)₈	del(T)₇	del(T)₆	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅	dup(T)₆	dup(T)₈	dup(T)₉
GRCh38.p14 chr 17	NC_000017.11:g.42753914_42753930=	NC_000017.11:g.42753923_42753930del	NC_000017.11:g.42753924_42753930del	NC_000017.11:g.42753925_42753930del	NC_000017.11:g.42753927_42753930del	NC_000017.11:g.42753928_42753930del	NC_000017.11:g.42753929_42753930del	NC_000017.11:g.42753930del	NC_000017.11:g.42753930dup	NC_000017.11:g.42753929_42753930dup	NC_000017.11:g.42753928_42753930dup	NC_000017.11:g.42753927_42753930dup	NC_000017.11:g.42753926_42753930dup	NC_000017.11:g.42753925_42753930dup	NC_000017.11:g.42753923_42753930dup	NC_000017.11:g.42753922_42753930dup
GRCh37.p13 chr 17	NC_000017.10:g.40905932_40905948=	NC_000017.10:g.40905941_40905948del	NC_000017.10:g.40905942_40905948del	NC_000017.10:g.40905943_40905948del	NC_000017.10:g.40905945_40905948del	NC_000017.10:g.40905946_40905948del	NC_000017.10:g.40905947_40905948del	NC_000017.10:g.40905948del	NC_000017.10:g.40905948dup	NC_000017.10:g.40905947_40905948dup	NC_000017.10:g.40905946_40905948dup	NC_000017.10:g.40905945_40905948dup	NC_000017.10:g.40905944_40905948dup	NC_000017.10:g.40905943_40905948dup	NC_000017.10:g.40905941_40905948dup	NC_000017.10:g.40905940_40905948dup
HMGN2P15 pseudogene	NG_028969.1:g.77_93=	NG_028969.1:g.86_93del	NG_028969.1:g.87_93del	NG_028969.1:g.88_93del	NG_028969.1:g.90_93del	NG_028969.1:g.91_93del	NG_028969.1:g.92_93del	NG_028969.1:g.93del	NG_028969.1:g.93dup	NG_028969.1:g.92_93dup	NG_028969.1:g.91_93dup	NG_028969.1:g.90_93dup	NG_028969.1:g.89_93dup	NG_028969.1:g.88_93dup	NG_028969.1:g.86_93dup	NG_028969.1:g.85_93dup
RAMP2-AS1 transcript variant 1	NR_024461.1:n.3256_3272=	NR_024461.1:n.3265_3272del	NR_024461.1:n.3266_3272del	NR_024461.1:n.3267_3272del	NR_024461.1:n.3269_3272del	NR_024461.1:n.3270_3272del	NR_024461.1:n.3271_3272del	NR_024461.1:n.3272del	NR_024461.1:n.3272dup	NR_024461.1:n.3271_3272dup	NR_024461.1:n.3270_3272dup	NR_024461.1:n.3269_3272dup	NR_024461.1:n.3268_3272dup	NR_024461.1:n.3267_3272dup	NR_024461.1:n.3265_3272dup	NR_024461.1:n.3264_3272dup
RAMP2-AS1 transcript variant 2	NR_024462.1:n.1680_1696=	NR_024462.1:n.1689_1696del	NR_024462.1:n.1690_1696del	NR_024462.1:n.1691_1696del	NR_024462.1:n.1693_1696del	NR_024462.1:n.1694_1696del	NR_024462.1:n.1695_1696del	NR_024462.1:n.1696del	NR_024462.1:n.1696dup	NR_024462.1:n.1695_1696dup	NR_024462.1:n.1694_1696dup	NR_024462.1:n.1693_1696dup	NR_024462.1:n.1692_1696dup	NR_024462.1:n.1691_1696dup	NR_024462.1:n.1689_1696dup	NR_024462.1:n.1688_1696dup

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#.

38 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	EVA_GENOME_DK	ss1575049163	Apr 01, 2015 (144)
2	HAMMER_LAB	ss1808784055	Sep 08, 2015 (146)
3	TMC_SNPDB	ss1997092463	Jul 19, 2016 (147)
4	SWEGEN	ss3015537733	Nov 08, 2017 (151)
5	PACBIO	ss3788204541	Jul 13, 2019 (153)
6	EVA	ss3834868834	Apr 27, 2020 (154)
7	EVA	ss3986728164	Apr 27, 2021 (155)
8	GNOMAD	ss4311647338	Apr 27, 2021 (155)
9	GNOMAD	ss4311647339	Apr 27, 2021 (155)
10	GNOMAD	ss4311647340	Apr 27, 2021 (155)
11	GNOMAD	ss4311647341	Apr 27, 2021 (155)
12	GNOMAD	ss4311647342	Apr 27, 2021 (155)
13	GNOMAD	ss4311647343	Apr 27, 2021 (155)
14	GNOMAD	ss4311647344	Apr 27, 2021 (155)
15	GNOMAD	ss4311647345	Apr 27, 2021 (155)
16	GNOMAD	ss4311647347	Apr 27, 2021 (155)
17	GNOMAD	ss4311647348	Apr 27, 2021 (155)
18	GNOMAD	ss4311647349	Apr 27, 2021 (155)
19	GNOMAD	ss4311647350	Apr 27, 2021 (155)
20	GNOMAD	ss4311647351	Apr 27, 2021 (155)
21	GNOMAD	ss4311647352	Apr 27, 2021 (155)
22	TOPMED	ss5036060455	Apr 27, 2021 (155)
23	TOMMO_GENOMICS	ss5222424869	Apr 27, 2021 (155)
24	TOMMO_GENOMICS	ss5222424870	Apr 27, 2021 (155)
25	1000G_HIGH_COVERAGE	ss5303140718	Oct 16, 2022 (156)
26	1000G_HIGH_COVERAGE	ss5303140719	Oct 16, 2022 (156)
27	1000G_HIGH_COVERAGE	ss5303140720	Oct 16, 2022 (156)
28	HUGCELL_USP	ss5496196002	Oct 16, 2022 (156)
29	HUGCELL_USP	ss5496196003	Oct 16, 2022 (156)
30	HUGCELL_USP	ss5496196004	Oct 16, 2022 (156)
31	HUGCELL_USP	ss5496196005	Oct 16, 2022 (156)
32	HUGCELL_USP	ss5496196006	Oct 16, 2022 (156)
33	EVA	ss5624072852	Oct 16, 2022 (156)
34	TOMMO_GENOMICS	ss5778635990	Oct 16, 2022 (156)
35	TOMMO_GENOMICS	ss5778635991	Oct 16, 2022 (156)
36	TOMMO_GENOMICS	ss5778635992	Oct 16, 2022 (156)
37	YY_MCH	ss5816544909	Oct 16, 2022 (156)
38	EVA	ss5980967309	Oct 16, 2022 (156)
39	The Danish reference pan genome	NC_000017.10 - 40905932	Apr 27, 2020 (154)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507303626 (NC_000017.11:42753913::T 275/125940) Row 507303627 (NC_000017.11:42753913::TT 1179/125934) Row 507303628 (NC_000017.11:42753913::TTT 3/125946)...	-	Apr 27, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507303626 (NC_000017.11:42753913::T 275/125940) Row 507303627 (NC_000017.11:42753913::TT 1179/125934) Row 507303628 (NC_000017.11:42753913::TTT 3/125946)...	-	Apr 27, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507303626 (NC_000017.11:42753913::T 275/125940) Row 507303627 (NC_000017.11:42753913::TT 1179/125934) Row 507303628 (NC_000017.11:42753913::TTT 3/125946)...	-	Apr 27, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507303626 (NC_000017.11:42753913::T 275/125940) Row 507303627 (NC_000017.11:42753913::TT 1179/125934) Row 507303628 (NC_000017.11:42753913::TTT 3/125946)...	-	Apr 27, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507303626 (NC_000017.11:42753913::T 275/125940) Row 507303627 (NC_000017.11:42753913::TT 1179/125934) Row 507303628 (NC_000017.11:42753913::TTT 3/125946)...	-	Apr 27, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507303626 (NC_000017.11:42753913::T 275/125940) Row 507303627 (NC_000017.11:42753913::TT 1179/125934) Row 507303628 (NC_000017.11:42753913::TTT 3/125946)...	-	Apr 27, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507303626 (NC_000017.11:42753913::T 275/125940) Row 507303627 (NC_000017.11:42753913::TT 1179/125934) Row 507303628 (NC_000017.11:42753913::TTT 3/125946)...	-	Apr 27, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507303626 (NC_000017.11:42753913::T 275/125940) Row 507303627 (NC_000017.11:42753913::TT 1179/125934) Row 507303628 (NC_000017.11:42753913::TTT 3/125946)...	-	Apr 27, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507303626 (NC_000017.11:42753913::T 275/125940) Row 507303627 (NC_000017.11:42753913::TT 1179/125934) Row 507303628 (NC_000017.11:42753913::TTT 3/125946)...	-	Apr 27, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507303626 (NC_000017.11:42753913::T 275/125940) Row 507303627 (NC_000017.11:42753913::TT 1179/125934) Row 507303628 (NC_000017.11:42753913::TTT 3/125946)...	-	Apr 27, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507303626 (NC_000017.11:42753913::T 275/125940) Row 507303627 (NC_000017.11:42753913::TT 1179/125934) Row 507303628 (NC_000017.11:42753913::TTT 3/125946)...	-	Apr 27, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507303626 (NC_000017.11:42753913::T 275/125940) Row 507303627 (NC_000017.11:42753913::TT 1179/125934) Row 507303628 (NC_000017.11:42753913::TTT 3/125946)...	-	Apr 27, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507303626 (NC_000017.11:42753913::T 275/125940) Row 507303627 (NC_000017.11:42753913::TT 1179/125934) Row 507303628 (NC_000017.11:42753913::TTT 3/125946)...	-	Apr 27, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507303626 (NC_000017.11:42753913::T 275/125940) Row 507303627 (NC_000017.11:42753913::TT 1179/125934) Row 507303628 (NC_000017.11:42753913::TTT 3/125946)...	-	Apr 27, 2021 (155)
54	8.3KJPN Submission ignored due to conflicting rows: Row 80394176 (NC_000017.10:40905931:T: 24/16750) Row 80394177 (NC_000017.10:40905931::T 12/16750)	-	Apr 27, 2021 (155)
55	8.3KJPN Submission ignored due to conflicting rows: Row 80394176 (NC_000017.10:40905931:T: 24/16750) Row 80394177 (NC_000017.10:40905931::T 12/16750)	-	Apr 27, 2021 (155)
56	14KJPN Submission ignored due to conflicting rows: Row 112473094 (NC_000017.11:42753913:T: 35/28236) Row 112473095 (NC_000017.11:42753913::T 33/28236) Row 112473096 (NC_000017.11:42753913::TT 1/28236)	-	Oct 16, 2022 (156)
57	14KJPN Submission ignored due to conflicting rows: Row 112473094 (NC_000017.11:42753913:T: 35/28236) Row 112473095 (NC_000017.11:42753913::T 33/28236) Row 112473096 (NC_000017.11:42753913::TT 1/28236)	-	Oct 16, 2022 (156)
58	14KJPN Submission ignored due to conflicting rows: Row 112473094 (NC_000017.11:42753913:T: 35/28236) Row 112473095 (NC_000017.11:42753913::T 33/28236) Row 112473096 (NC_000017.11:42753913::TT 1/28236)	-	Oct 16, 2022 (156)
59	TopMed	NC_000017.11 - 42753914	Apr 27, 2021 (155)
60	ALFA	NC_000017.11 - 42753914	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
3077845694	NC_000017.11:42753913:TTTTTTTTTTTT… NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTT	NC_000017.11:42753913:TTTTTTTTTTTT… NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTT	(self)
251606117, ss4311647352, ss5036060455	NC_000017.11:42753913:TTTTTTT:	NC_000017.11:42753913:TTTTTTTTTTTT… NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
3077845694	NC_000017.11:42753913:TTTTTTTTTTTT… NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTT	NC_000017.11:42753913:TTTTTTTTTTTT… NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
ss4311647351	NC_000017.11:42753913:TTTTTT:	NC_000017.11:42753913:TTTTTTTTTTTT… NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
3077845694	NC_000017.11:42753913:TTTTTTTTTTTT… NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000017.11:42753913:TTTTTTTTTTTT… NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss4311647350	NC_000017.11:42753913:TTTT:	NC_000017.11:42753913:TTTTTTTTTTTT… NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4311647349	NC_000017.11:42753913:TTT:	NC_000017.11:42753913:TTTTTTTTTTTT… NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
3077845694	NC_000017.11:42753913:TTTTTTTTTTTT… NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000017.11:42753913:TTTTTTTTTTTT… NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss4311647348, ss5496196004	NC_000017.11:42753913:TT:	NC_000017.11:42753913:TTTTTTTTTTTT… NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
3077845694	NC_000017.11:42753913:TTTTTTTTTTTT… NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000017.11:42753913:TTTTTTTTTTTT… NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss1808784055, ss1997092463, ss3015537733, ss3788204541, ss3834868834, ss3986728164, ss5222424869, ss5624072852, ss5980967309	NC_000017.10:40905931:T:	NC_000017.11:42753913:TTTTTTTTTTTT… NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4311647347, ss5303140718, ss5496196002, ss5778635990, ss5816544909	NC_000017.11:42753913:T:	NC_000017.11:42753913:TTTTTTTTTTTT… NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
3077845694	NC_000017.11:42753913:TTTTTTTTTTTT… NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000017.11:42753913:TTTTTTTTTTTT… NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
561666, ss1575049163, ss5222424870	NC_000017.10:40905931::T	NC_000017.11:42753913:TTTTTTTTTTTT… NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4311647338, ss5496196003, ss5778635991	NC_000017.11:42753913::T	NC_000017.11:42753913:TTTTTTTTTTTT… NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
3077845694	NC_000017.11:42753913:TTTTTTTTTTTT… NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000017.11:42753913:TTTTTTTTTTTT… NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4311647339, ss5303140719, ss5496196005, ss5778635992	NC_000017.11:42753913::TT	NC_000017.11:42753913:TTTTTTTTTTTT… NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
3077845694	NC_000017.11:42753913:TTTTTTTTTTTT… NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000017.11:42753913:TTTTTTTTTTTT… NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4311647340	NC_000017.11:42753913::TTT	NC_000017.11:42753913:TTTTTTTTTTTT… NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
3077845694	NC_000017.11:42753913:TTTTTTTTTTTT… NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000017.11:42753913:TTTTTTTTTTTT… NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4311647341	NC_000017.11:42753913::TTTT	NC_000017.11:42753913:TTTTTTTTTTTT… NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
3077845694	NC_000017.11:42753913:TTTTTTTTTTTT… NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000017.11:42753913:TTTTTTTTTTTT… NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4311647342, ss5303140720, ss5496196006	NC_000017.11:42753913::TTTTT	NC_000017.11:42753913:TTTTTTTTTTTT… NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
3077845694	NC_000017.11:42753913:TTTTTTTTTTTT… NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000017.11:42753913:TTTTTTTTTTTT… NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4311647343	NC_000017.11:42753913::TTTTTT	NC_000017.11:42753913:TTTTTTTTTTTT… NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
3077845694	NC_000017.11:42753913:TTTTTTTTTTTT… NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000017.11:42753913:TTTTTTTTTTTT… NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4311647344	NC_000017.11:42753913::TTTTTTTT	NC_000017.11:42753913:TTTTTTTTTTTT… NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4311647345	NC_000017.11:42753913::TTTTTTTTT	NC_000017.11:42753913:TTTTTTTTTTTT… NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI
ss2381973015	NC_000017.10:40905931:TTTTTT:	NC_000017.11:42753913:TTTTTTTTTTTT… NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT
ss2381973016	NC_000017.10:40905931:TTTTTTT:	NC_000017.11:42753913:TTTTTTTTTTTT… NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTT
ss3262869281	NC_000017.11:42753913:TTTTTTTT:	NC_000017.11:42753913:TTTTTTTTTTTT… NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTT

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

No publications for rs779187369

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

rs779187369