Name: rs1491250719
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.

rs1491250719

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr20:34235900 (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: insGC(GGGA)₃A(GAAG)₃(GAG)₂GGAGGGAA…
insGC(GGGA)₃A(GAAG)₃(GAG)₂GGAGGGAAGAATGA / insGGA / insGGAAGC(GGGA)₃A(GAAG)₃(GAG)₂GGAGGGAAGA / insGGAAGC(GGGA)₃A(GAAG)₃(GAG)₂GGAGGGAAGAATGA / insGGAAGGA / ins(GGAA)₂GC(GGGA)₃A(GAAG)₃(GAG)₂GGAGGGAAGAATGA / ins(GGAA)₂GGA / ins(GGAA)₃GC(GGGA)₃A(GAAG)₃(GAG)₂GGAGGGAAGAATGA / insGGAA(GGA)₂(GGGA)₂AGAATGA / ins(GGA)₂(GGGA)₂AGAAAGA / ins(GGA)₂(GGGA)₂AGAATGA / ins(GGA)₂(GGGA)₂AGAATGAAGA / insGGGA
Variation Type: Indel Insertion and Deletion
Frequency: insGGA=0.00000 (0/11860, ALFA)
insGC(GGGA)₃A(GAAG)₃(GAG)₂GGAGGGAAGAATGA=0.016 (9/580, NorthernSweden)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ASIP : Intron Variant
AHCY : 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	11860	A=1.00000	AGGA=0.00000	1.0	N/A
European	Sub	7618	A=1.0000	AGGA=0.0000	1.0	N/A
African	Sub	2814	A=1.0000	AGGA=0.0000	1.0	N/A
African Others	Sub	108	A=1.000	AGGA=0.000	1.0	N/A
African American	Sub	2706	A=1.0000	AGGA=0.0000	1.0	N/A
Asian	Sub	108	A=1.000	AGGA=0.000	1.0	N/A
East Asian	Sub	84	A=1.00	AGGA=0.00	1.0	N/A
Other Asian	Sub	24	A=1.00	AGGA=0.00	1.0	N/A
Latin American 1	Sub	146	A=1.000	AGGA=0.000	1.0	N/A
Latin American 2	Sub	610	A=1.000	AGGA=0.000	1.0	N/A
South Asian	Sub	94	A=1.00	AGGA=0.00	1.0	N/A
Other	Sub	470	A=1.000	AGGA=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	11860	A=1.00000	insGGA=0.00000
Allele Frequency Aggregator	European	Sub	7618	A=1.0000	insGGA=0.0000
Allele Frequency Aggregator	African	Sub	2814	A=1.0000	insGGA=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	610	A=1.000	insGGA=0.000
Allele Frequency Aggregator	Other	Sub	470	A=1.000	insGGA=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	A=1.000	insGGA=0.000
Allele Frequency Aggregator	Asian	Sub	108	A=1.000	insGGA=0.000
Allele Frequency Aggregator	South Asian	Sub	94	A=1.00	insGGA=0.00
Northern Sweden	ACPOP	Study-wide	580	- No frequency provided	insGC(GGGA)₃A(GAAG)₃(GAG)₂GGAGGGAAGAATGA=0.016

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 20	NC_000020.11:g.34235900_34235901insGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATGA
GRCh38.p14 chr 20	NC_000020.11:g.34235900_34235901insGGA
GRCh38.p14 chr 20	NC_000020.11:g.34235900_34235901insGGAAGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGA
GRCh38.p14 chr 20	NC_000020.11:g.34235900_34235901insGGAAGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATGA
GRCh38.p14 chr 20	NC_000020.11:g.34235900_34235901insGGAAGGA
GRCh38.p14 chr 20	NC_000020.11:g.34235900AGGA[2]AGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATGA[1]
GRCh38.p14 chr 20	NC_000020.11:g.34235900_34235901insGGAAGGAAGGA
GRCh38.p14 chr 20	NC_000020.11:g.34235900AGGA[3]AGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATGA[1]
GRCh38.p14 chr 20	NC_000020.11:g.34235900AGGA[2]GGAG[2]GGAAGAATGA[1]
GRCh38.p14 chr 20	NC_000020.11:g.34235900AGG[3]GAGGGAAGAAAGA[1]
GRCh38.p14 chr 20	NC_000020.11:g.34235900AGG[3]GAGGGAAGAATGA[1]
GRCh38.p14 chr 20	NC_000020.11:g.34235900AGG[3]GAGGGAAGAATGAAGA[1]
GRCh38.p14 chr 20	NC_000020.11:g.34235900_34235901insGGGA
GRCh37.p13 chr 20	NC_000020.10:g.32823706_32823707insGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATGA
GRCh37.p13 chr 20	NC_000020.10:g.32823706_32823707insGGA
GRCh37.p13 chr 20	NC_000020.10:g.32823706_32823707insGGAAGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGA
GRCh37.p13 chr 20	NC_000020.10:g.32823706_32823707insGGAAGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATGA
GRCh37.p13 chr 20	NC_000020.10:g.32823706_32823707insGGAAGGA
GRCh37.p13 chr 20	NC_000020.10:g.32823706AGGA[2]AGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATGA[1]
GRCh37.p13 chr 20	NC_000020.10:g.32823706_32823707insGGAAGGAAGGA
GRCh37.p13 chr 20	NC_000020.10:g.32823706AGGA[3]AGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATGA[1]
GRCh37.p13 chr 20	NC_000020.10:g.32823706AGGA[2]GGAG[2]GGAAGAATGA[1]
GRCh37.p13 chr 20	NC_000020.10:g.32823706AGG[3]GAGGGAAGAAAGA[1]
GRCh37.p13 chr 20	NC_000020.10:g.32823706AGG[3]GAGGGAAGAATGA[1]
GRCh37.p13 chr 20	NC_000020.10:g.32823706AGG[3]GAGGGAAGAATGAAGA[1]
GRCh37.p13 chr 20	NC_000020.10:g.32823706_32823707insGGGA

Gene: ASIP, agouti signaling protein (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ASIP transcript variant 2	NM_001385218.1:c.-10-2446… NM_001385218.1:c.-10-24465_-10-24464insGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATGA	N/A	Intron Variant
ASIP transcript variant 1	NM_001672.3:c.	N/A	Genic Upstream Transcript Variant
ASIP transcript variant X1	XM_011528820.2:c.-11+1329… XM_011528820.2:c.-11+13296_-11+13297insGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATGA	N/A	Intron Variant
ASIP transcript variant X2	XM_011528821.1:c.-11+1329… XM_011528821.1:c.-11+13296_-11+13297insGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATGA	N/A	Intron Variant

Gene: AHCY, adenosylhomocysteinase (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
AHCY transcript variant 1	NM_000687.4:c.	N/A	Genic Downstream Transcript Variant
AHCY transcript variant 2	NM_001161766.2:c.	N/A	Genic Downstream Transcript Variant
AHCY transcript variant 4	NM_001322084.2:c.	N/A	Genic Downstream Transcript Variant
AHCY transcript variant 5	NM_001322085.2:c.	N/A	Genic Downstream Transcript Variant
AHCY transcript variant 3	NM_001322086.2:c.	N/A	Genic Downstream Transcript Variant
AHCY transcript variant 6	NM_001362750.2:c.	N/A	Genic Downstream Transcript Variant
AHCY transcript variant X1	XM_047439962.1:c.8-870_… XM_047439962.1:c.8-870_8-869insTCATTCTTCCCTCCCTCCTCCTTCCTTCCTTCTTCCCTCCCTCCCGC	N/A	Intron Variant
AHCY transcript variant X3	XM_011528659.2:c.	N/A	Genic Downstream Transcript Variant
AHCY transcript variant X2	XM_017027709.3:c.	N/A	Genic Downstream 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=	insGC(GGGA)₃A(GAAG)₃(GAG)₂GGAGGGAAGAATGA	insGGA	insGGAAGC(GGGA)₃A(GAAG)₃(GAG)₂GGAGGGAAGA	insGGAAGC(GGGA)₃A(GAAG)₃(GAG)₂GGAGGGAAGAATGA	insGGAAGGA	ins(GGAA)₂GC(GGGA)₃A(GAAG)₃(GAG)₂GGAGGGAAGAATGA	ins(GGAA)₂GGA	ins(GGAA)₃GC(GGGA)₃A(GAAG)₃(GAG)₂GGAGGGAAGAATGA	insGGAA(GGA)₂(GGGA)₂AGAATGA	ins(GGA)₂(GGGA)₂AGAAAGA	ins(GGA)₂(GGGA)₂AGAATGA	ins(GGA)₂(GGGA)₂AGAATGAAGA	insGGGA
GRCh38.p14 chr 20	NC_000020.11:g.34235900=	NC_000020.11:g.34235900_34235901insGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATGA	NC_000020.11:g.34235900_34235901insGGA	NC_000020.11:g.34235900_34235901insGGAAGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGA	NC_000020.11:g.34235900_34235901insGGAAGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATGA	NC_000020.11:g.34235900_34235901insGGAAGGA	NC_000020.11:g.34235900AGGA[2]AGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATGA[1]	NC_000020.11:g.34235900_34235901insGGAAGGAAGGA	NC_000020.11:g.34235900AGGA[3]AGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATGA[1]	NC_000020.11:g.34235900AGGA[2]GGAG[2]GGAAGAATGA[1]	NC_000020.11:g.34235900AGG[3]GAGGGAAGAAAGA[1]	NC_000020.11:g.34235900AGG[3]GAGGGAAGAATGA[1]	NC_000020.11:g.34235900AGG[3]GAGGGAAGAATGAAGA[1]	NC_000020.11:g.34235900_34235901insGGGA
GRCh37.p13 chr 20	NC_000020.10:g.32823706=	NC_000020.10:g.32823706_32823707insGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATGA	NC_000020.10:g.32823706_32823707insGGA	NC_000020.10:g.32823706_32823707insGGAAGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGA	NC_000020.10:g.32823706_32823707insGGAAGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATGA	NC_000020.10:g.32823706_32823707insGGAAGGA	NC_000020.10:g.32823706AGGA[2]AGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATGA[1]	NC_000020.10:g.32823706_32823707insGGAAGGAAGGA	NC_000020.10:g.32823706AGGA[3]AGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATGA[1]	NC_000020.10:g.32823706AGGA[2]GGAG[2]GGAAGAATGA[1]	NC_000020.10:g.32823706AGG[3]GAGGGAAGAAAGA[1]	NC_000020.10:g.32823706AGG[3]GAGGGAAGAATGA[1]	NC_000020.10:g.32823706AGG[3]GAGGGAAGAATGAAGA[1]	NC_000020.10:g.32823706_32823707insGGGA
ASIP transcript variant 2	NM_001385218.1:c.-10-24465=	NM_001385218.1:c.-10-24465_-10-24464insGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATGA	NM_001385218.1:c.-10-24465_-10-24464insGGA	NM_001385218.1:c.-10-24465_-10-24464insGGAAGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGA	NM_001385218.1:c.-10-24465_-10-24464insGGAAGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATGA	NM_001385218.1:c.-10-24465_-10-24464insGGAAGGA	NM_001385218.1:c.-10-24465_-10-24464insGGAAGGAAGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATGA	NM_001385218.1:c.-10-24465_-10-24464insGGAAGGAAGGA	NM_001385218.1:c.-10-24465_-10-24464insGGAAGGAAGGAAGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATGA	NM_001385218.1:c.-10-24465_-10-24464insGGAAGGAGGAGGGAGGGAAGAATGA	NM_001385218.1:c.-10-24465_-10-24464insGGAGGAGGGAGGGAAGAAAGA	NM_001385218.1:c.-10-24465_-10-24464insGGAGGAGGGAGGGAAGAATGA	NM_001385218.1:c.-10-24465_-10-24464insGGAGGAGGGAGGGAAGAATGAAGA	NM_001385218.1:c.-10-24465_-10-24464insGGGA
ASIP transcript variant X1	XM_011528820.2:c.-11+13296=	XM_011528820.2:c.-11+13296_-11+13297insGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATGA	XM_011528820.2:c.-11+13296_-11+13297insGGA	XM_011528820.2:c.-11+13296_-11+13297insGGAAGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGA	XM_011528820.2:c.-11+13296_-11+13297insGGAAGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATGA	XM_011528820.2:c.-11+13296_-11+13297insGGAAGGA	XM_011528820.2:c.-11+13296_-11+13297insGGAAGGAAGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATGA	XM_011528820.2:c.-11+13296_-11+13297insGGAAGGAAGGA	XM_011528820.2:c.-11+13296_-11+13297insGGAAGGAAGGAAGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATGA	XM_011528820.2:c.-11+13296_-11+13297insGGAAGGAGGAGGGAGGGAAGAATGA	XM_011528820.2:c.-11+13296_-11+13297insGGAGGAGGGAGGGAAGAAAGA	XM_011528820.2:c.-11+13296_-11+13297insGGAGGAGGGAGGGAAGAATGA	XM_011528820.2:c.-11+13296_-11+13297insGGAGGAGGGAGGGAAGAATGAAGA	XM_011528820.2:c.-11+13296_-11+13297insGGGA
ASIP transcript variant X2	XM_011528821.1:c.-11+13296=	XM_011528821.1:c.-11+13296_-11+13297insGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATGA	XM_011528821.1:c.-11+13296_-11+13297insGGA	XM_011528821.1:c.-11+13296_-11+13297insGGAAGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGA	XM_011528821.1:c.-11+13296_-11+13297insGGAAGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATGA	XM_011528821.1:c.-11+13296_-11+13297insGGAAGGA	XM_011528821.1:c.-11+13296_-11+13297insGGAAGGAAGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATGA	XM_011528821.1:c.-11+13296_-11+13297insGGAAGGAAGGA	XM_011528821.1:c.-11+13296_-11+13297insGGAAGGAAGGAAGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATGA	XM_011528821.1:c.-11+13296_-11+13297insGGAAGGAGGAGGGAGGGAAGAATGA	XM_011528821.1:c.-11+13296_-11+13297insGGAGGAGGGAGGGAAGAAAGA	XM_011528821.1:c.-11+13296_-11+13297insGGAGGAGGGAGGGAAGAATGA	XM_011528821.1:c.-11+13296_-11+13297insGGAGGAGGGAGGGAAGAATGAAGA	XM_011528821.1:c.-11+13296_-11+13297insGGGA
AHCY transcript variant X1	XM_047439962.1:c.*8-870=	XM_047439962.1:c.8-870_8-869insTCATTCTTCCCTCCCTCCTCCTTCCTTCCTTCTTCCCTCCCTCCCGC	XM_047439962.1:c.8-870_8-869insTCC	XM_047439962.1:c.8-870_8-869insTCTTCCCTCCCTCCTCCTTCCTTCCTTCTTCCCTCCCTCCCGCTTCC	XM_047439962.1:c.8-870_8-869insTCATTCTTCCCTCCCTCCTCCTTCCTTCCTTCTTCCCTCCCTCCCGCTTCC	XM_047439962.1:c.8-870_8-869insTCCTTCC	XM_047439962.1:c.8-870_8-869insTCATTCTTCCCTCCCTCCTCCTTCCTTCCTTCTTCCCTCCCTCCCGCTTCCTTCC	XM_047439962.1:c.8-870_8-869insTCCTTCCTTCC	XM_047439962.1:c.8-870_8-869insTCATTCTTCCCTCCCTCCTCCTTCCTTCCTTCTTCCCTCCCTCCCGCTTCCTTCCTTCC	XM_047439962.1:c.8-870_8-869insTCATTCTTCCCTCCCTCCTCCTTCC	XM_047439962.1:c.8-870_8-869insTCTTTCTTCCCTCCCTCCTCC	XM_047439962.1:c.8-870_8-869insTCATTCTTCCCTCCCTCCTCC	XM_047439962.1:c.8-870_8-869insTCTTCATTCTTCCCTCCCTCCTCC	XM_047439962.1:c.8-870_8-869insTCCC

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#.

15 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ACPOP	ss3743364760	Jul 13, 2019 (153)
2	GNOMAD	ss4352753065	Apr 26, 2021 (155)
3	GNOMAD	ss4352753066	Apr 26, 2021 (155)
4	GNOMAD	ss4352753067	Apr 26, 2021 (155)
5	GNOMAD	ss4352753068	Apr 26, 2021 (155)
6	GNOMAD	ss4352753069	Apr 26, 2021 (155)
7	GNOMAD	ss4352753070	Apr 26, 2021 (155)
8	GNOMAD	ss4352753071	Apr 26, 2021 (155)
9	GNOMAD	ss4352753072	Apr 26, 2021 (155)
10	GNOMAD	ss4352753073	Apr 26, 2021 (155)
11	GNOMAD	ss4352753074	Apr 26, 2021 (155)
12	TOMMO_GENOMICS	ss5229476393	Apr 26, 2021 (155)
13	TOMMO_GENOMICS	ss5229476394	Apr 26, 2021 (155)
14	TOMMO_GENOMICS	ss5789221943	Oct 13, 2022 (156)
15	TOMMO_GENOMICS	ss5789221944	Oct 13, 2022 (156)
16	gnomAD - Genomes Submission ignored due to conflicting rows: Row 550781702 (NC_000020.11:34235899::AGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATG 143/59350) Row 550781703 (NC_000020.11:34235899::AGG 38/59426) Row 550781704 (NC_000020.11:34235899::AGGAAGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAG 1/59444)...	-	Apr 26, 2021 (155)
17	gnomAD - Genomes Submission ignored due to conflicting rows: Row 550781702 (NC_000020.11:34235899::AGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATG 143/59350) Row 550781703 (NC_000020.11:34235899::AGG 38/59426) Row 550781704 (NC_000020.11:34235899::AGGAAGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAG 1/59444)...	-	Apr 26, 2021 (155)
18	gnomAD - Genomes Submission ignored due to conflicting rows: Row 550781702 (NC_000020.11:34235899::AGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATG 143/59350) Row 550781703 (NC_000020.11:34235899::AGG 38/59426) Row 550781704 (NC_000020.11:34235899::AGGAAGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAG 1/59444)...	-	Apr 26, 2021 (155)
19	gnomAD - Genomes Submission ignored due to conflicting rows: Row 550781702 (NC_000020.11:34235899::AGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATG 143/59350) Row 550781703 (NC_000020.11:34235899::AGG 38/59426) Row 550781704 (NC_000020.11:34235899::AGGAAGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAG 1/59444)...	-	Apr 26, 2021 (155)
20	gnomAD - Genomes Submission ignored due to conflicting rows: Row 550781702 (NC_000020.11:34235899::AGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATG 143/59350) Row 550781703 (NC_000020.11:34235899::AGG 38/59426) Row 550781704 (NC_000020.11:34235899::AGGAAGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAG 1/59444)...	-	Apr 26, 2021 (155)
21	gnomAD - Genomes Submission ignored due to conflicting rows: Row 550781702 (NC_000020.11:34235899::AGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATG 143/59350) Row 550781703 (NC_000020.11:34235899::AGG 38/59426) Row 550781704 (NC_000020.11:34235899::AGGAAGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAG 1/59444)...	-	Apr 26, 2021 (155)
22	gnomAD - Genomes Submission ignored due to conflicting rows: Row 550781702 (NC_000020.11:34235899::AGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATG 143/59350) Row 550781703 (NC_000020.11:34235899::AGG 38/59426) Row 550781704 (NC_000020.11:34235899::AGGAAGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAG 1/59444)...	-	Apr 26, 2021 (155)
23	gnomAD - Genomes Submission ignored due to conflicting rows: Row 550781702 (NC_000020.11:34235899::AGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATG 143/59350) Row 550781703 (NC_000020.11:34235899::AGG 38/59426) Row 550781704 (NC_000020.11:34235899::AGGAAGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAG 1/59444)...	-	Apr 26, 2021 (155)
24	gnomAD - Genomes Submission ignored due to conflicting rows: Row 550781702 (NC_000020.11:34235899::AGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATG 143/59350) Row 550781703 (NC_000020.11:34235899::AGG 38/59426) Row 550781704 (NC_000020.11:34235899::AGGAAGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAG 1/59444)...	-	Apr 26, 2021 (155)
25	gnomAD - Genomes Submission ignored due to conflicting rows: Row 550781702 (NC_000020.11:34235899::AGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATG 143/59350) Row 550781703 (NC_000020.11:34235899::AGG 38/59426) Row 550781704 (NC_000020.11:34235899::AGGAAGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAG 1/59444)...	-	Apr 26, 2021 (155)
26	gnomAD - Genomes Submission ignored due to conflicting rows: Row 550781702 (NC_000020.11:34235899::AGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATG 143/59350) Row 550781703 (NC_000020.11:34235899::AGG 38/59426) Row 550781704 (NC_000020.11:34235899::AGGAAGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAG 1/59444)...	-	Apr 26, 2021 (155)
27	gnomAD - Genomes Submission ignored due to conflicting rows: Row 550781702 (NC_000020.11:34235899::AGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATG 143/59350) Row 550781703 (NC_000020.11:34235899::AGG 38/59426) Row 550781704 (NC_000020.11:34235899::AGGAAGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAG 1/59444)...	-	Apr 26, 2021 (155)
28	gnomAD - Genomes Submission ignored due to conflicting rows: Row 550781702 (NC_000020.11:34235899::AGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATG 143/59350) Row 550781703 (NC_000020.11:34235899::AGG 38/59426) Row 550781704 (NC_000020.11:34235899::AGGAAGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAG 1/59444)...	-	Apr 26, 2021 (155)
29	Northern Sweden	NC_000020.10 - 32823706	Jul 13, 2019 (153)
30	8.3KJPN Submission ignored due to conflicting rows: Row 87445700 (NC_000020.10:32823705::AGGAGGAGGGAGGGAAGAATG 205/15582) Row 87445701 (NC_000020.10:32823705::AGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATG 30/15582)	-	Apr 26, 2021 (155)
31	8.3KJPN Submission ignored due to conflicting rows: Row 87445700 (NC_000020.10:32823705::AGGAGGAGGGAGGGAAGAATG 205/15582) Row 87445701 (NC_000020.10:32823705::AGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATG 30/15582)	-	Apr 26, 2021 (155)
32	14KJPN Submission ignored due to conflicting rows: Row 123059047 (NC_000020.11:34235899::AGGAGGAGGGAGGGAAGAATG 269/20250) Row 123059048 (NC_000020.11:34235899::AGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATG 40/20250)	-	Oct 13, 2022 (156)
33	14KJPN Submission ignored due to conflicting rows: Row 123059047 (NC_000020.11:34235899::AGGAGGAGGGAGGGAAGAATG 269/20250) Row 123059048 (NC_000020.11:34235899::AGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATG 40/20250)	-	Oct 13, 2022 (156)
34	ALFA	NC_000020.11 - 34235900	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
16649625, ss3743364760, ss5229476394	NC_000020.10:32823705::AGCGGGAGGGA… NC_000020.10:32823705::AGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATG	NC_000020.11:34235899:A:AGCGGGAGGG… NC_000020.11:34235899:A:AGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATGA	(self)
ss4352753065, ss5789221944	NC_000020.11:34235899::AGCGGGAGGGA… NC_000020.11:34235899::AGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATG	NC_000020.11:34235899:A:AGCGGGAGGG… NC_000020.11:34235899:A:AGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATGA	(self)
ss4352753066	NC_000020.11:34235899::AGG	NC_000020.11:34235899:A:AGGA	(self)
9178528396	NC_000020.11:34235899:A:AGGA	NC_000020.11:34235899:A:AGGA	(self)
ss4352753067	NC_000020.11:34235899::AGGAAGCGGGA… NC_000020.11:34235899::AGGAAGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAG	NC_000020.11:34235899:A:AGGAAGCGGG… NC_000020.11:34235899:A:AGGAAGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGA	(self)
	NC_000020.11:34235899::AGGAAGCGGGA… NC_000020.11:34235899::AGGAAGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATG	NC_000020.11:34235899:A:AGGAAGCGGG… NC_000020.11:34235899:A:AGGAAGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATGA	(self)
ss4352753068	NC_000020.11:34235899::AGGAAGG	NC_000020.11:34235899:A:AGGAAGGA	(self)
	NC_000020.11:34235899::AGGAAGGAAGC… NC_000020.11:34235899::AGGAAGGAAGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATG	NC_000020.11:34235899:A:AGGAAGGAAG… NC_000020.11:34235899:A:AGGAAGGAAGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATGA	(self)
ss4352753069	NC_000020.11:34235899::AGGAAGGAAGG	NC_000020.11:34235899:A:AGGAAGGAAG… NC_000020.11:34235899:A:AGGAAGGAAGGA	(self)
	NC_000020.11:34235899::AGGAAGGAAGG… NC_000020.11:34235899::AGGAAGGAAGGAAGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATG	NC_000020.11:34235899:A:AGGAAGGAAG… NC_000020.11:34235899:A:AGGAAGGAAGGAAGCGGGAGGGAGGGAAGAAGGAAGGAAGGAGGAGGGAGGGAAGAATGA	(self)
ss4352753070	NC_000020.11:34235899::AGGAAGGAGGA… NC_000020.11:34235899::AGGAAGGAGGAGGGAGGGAAGAATG	NC_000020.11:34235899:A:AGGAAGGAGG… NC_000020.11:34235899:A:AGGAAGGAGGAGGGAGGGAAGAATGA	(self)
ss4352753071	NC_000020.11:34235899::AGGAGGAGGGA… NC_000020.11:34235899::AGGAGGAGGGAGGGAAGAAAG	NC_000020.11:34235899:A:AGGAGGAGGG… NC_000020.11:34235899:A:AGGAGGAGGGAGGGAAGAAAGA	(self)
ss5229476393	NC_000020.10:32823705::AGGAGGAGGGA… NC_000020.10:32823705::AGGAGGAGGGAGGGAAGAATG	NC_000020.11:34235899:A:AGGAGGAGGG… NC_000020.11:34235899:A:AGGAGGAGGGAGGGAAGAATGA	(self)
ss4352753072, ss5789221943	NC_000020.11:34235899::AGGAGGAGGGA… NC_000020.11:34235899::AGGAGGAGGGAGGGAAGAATG	NC_000020.11:34235899:A:AGGAGGAGGG… NC_000020.11:34235899:A:AGGAGGAGGGAGGGAAGAATGA	(self)
ss4352753073	NC_000020.11:34235899::AGGAGGAGGGA… NC_000020.11:34235899::AGGAGGAGGGAGGGAAGAATGAAG	NC_000020.11:34235899:A:AGGAGGAGGG… NC_000020.11:34235899:A:AGGAGGAGGGAGGGAAGAATGAAGA	(self)
ss4352753074	NC_000020.11:34235899::AGGG	NC_000020.11:34235899:A:AGGGA	(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 rs1491250719

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
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1491250719