Name: rs57474977
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.

rs57474977

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr19:48652767-48652792 (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)₁₈ / del(A)₁₆ / del(A)₁₅ / d…
del(A)₁₈ / del(A)₁₆ / del(A)₁₅ / del(A)₁₄ / del(A)₁₃ / del(A)₁₂ / del(A)₁₁ / del(A)₁₀ / del(A)₉ / del(A)₈ / del(A)₇ / del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₆
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₁₈=0.0000 (0/2904, ALFA)
del(A)₁₆=0.0000 (0/2904, ALFA)
del(A)₁₅=0.0000 (0/2904, ALFA) (+ 20 more)
del(A)₁₄=0.0000 (0/2904, ALFA)
del(A)₁₃=0.0000 (0/2904, ALFA)
del(A)₁₂=0.0000 (0/2904, ALFA)
del(A)₁₁=0.0000 (0/2904, ALFA)
del(A)₁₀=0.0000 (0/2904, ALFA)
del(A)₉=0.0000 (0/2904, ALFA)
del(A)₈=0.0000 (0/2904, ALFA)
del(A)₇=0.0000 (0/2904, ALFA)
del(A)₆=0.0000 (0/2904, ALFA)
del(A)₅=0.0000 (0/2904, ALFA)
del(A)₄=0.0000 (0/2904, ALFA)
delAAA=0.0000 (0/2904, ALFA)
delAA=0.0000 (0/2904, ALFA)
delA=0.0000 (0/2904, ALFA)
dupA=0.0000 (0/2904, ALFA)
dupAA=0.0000 (0/2904, ALFA)
dupAAA=0.0000 (0/2904, ALFA)
dup(A)₄=0.0000 (0/2904, ALFA)
dup(A)₆=0.0000 (0/2904, ALFA)
dupAA=0.30 (12/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SEC1P : 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	Alt HMOZ	HTRZ	HWEP
Total	Global	2904	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
European	Sub	2480	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
African	Sub	138	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	2	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
African American	Sub	136	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
East Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	14	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	176	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	10	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other	Sub	86	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	2904	(A)₂₆=1.0000	del(A)₁₈=0.0000, del(A)₁₆=0.0000, del(A)₁₅=0.0000, del(A)₁₄=0.0000, del(A)₁₃=0.0000, del(A)₁₂=0.0000, del(A)₁₁=0.0000, del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₄=0.0000, dup(A)₆=0.0000
Allele Frequency Aggregator	European	Sub	2480	(A)₂₆=1.0000	del(A)₁₈=0.0000, del(A)₁₆=0.0000, del(A)₁₅=0.0000, del(A)₁₄=0.0000, del(A)₁₃=0.0000, del(A)₁₂=0.0000, del(A)₁₁=0.0000, del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₄=0.0000, dup(A)₆=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	176	(A)₂₆=1.000	del(A)₁₈=0.000, del(A)₁₆=0.000, del(A)₁₅=0.000, del(A)₁₄=0.000, del(A)₁₃=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₆=0.000
Allele Frequency Aggregator	African	Sub	138	(A)₂₆=1.000	del(A)₁₈=0.000, del(A)₁₆=0.000, del(A)₁₅=0.000, del(A)₁₄=0.000, del(A)₁₃=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₆=0.000
Allele Frequency Aggregator	Other	Sub	86	(A)₂₆=1.00	del(A)₁₈=0.00, del(A)₁₆=0.00, del(A)₁₅=0.00, del(A)₁₄=0.00, del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₆=0.00
Allele Frequency Aggregator	Latin American 1	Sub	14	(A)₂₆=1.00	del(A)₁₈=0.00, del(A)₁₆=0.00, del(A)₁₅=0.00, del(A)₁₄=0.00, del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₆=0.00
Allele Frequency Aggregator	South Asian	Sub	10	(A)₂₆=1.0	del(A)₁₈=0.0, del(A)₁₆=0.0, del(A)₁₅=0.0, del(A)₁₄=0.0, del(A)₁₃=0.0, del(A)₁₂=0.0, del(A)₁₁=0.0, del(A)₁₀=0.0, del(A)₉=0.0, del(A)₈=0.0, del(A)₇=0.0, del(A)₆=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₄=0.0, dup(A)₆=0.0
Allele Frequency Aggregator	Asian	Sub	0	(A)₂₆=0	del(A)₁₈=0, del(A)₁₆=0, del(A)₁₅=0, del(A)₁₄=0, del(A)₁₃=0, del(A)₁₂=0, del(A)₁₁=0, del(A)₁₀=0, del(A)₉=0, del(A)₈=0, del(A)₇=0, del(A)₆=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0, dup(A)₄=0, dup(A)₆=0
The Danish reference pan genome	Danish	Study-wide	40	- No frequency provided	dupAA=0.30

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 19	NC_000019.10:g.48652775_48652792del
GRCh38.p14 chr 19	NC_000019.10:g.48652777_48652792del
GRCh38.p14 chr 19	NC_000019.10:g.48652778_48652792del
GRCh38.p14 chr 19	NC_000019.10:g.48652779_48652792del
GRCh38.p14 chr 19	NC_000019.10:g.48652780_48652792del
GRCh38.p14 chr 19	NC_000019.10:g.48652781_48652792del
GRCh38.p14 chr 19	NC_000019.10:g.48652782_48652792del
GRCh38.p14 chr 19	NC_000019.10:g.48652783_48652792del
GRCh38.p14 chr 19	NC_000019.10:g.48652784_48652792del
GRCh38.p14 chr 19	NC_000019.10:g.48652785_48652792del
GRCh38.p14 chr 19	NC_000019.10:g.48652786_48652792del
GRCh38.p14 chr 19	NC_000019.10:g.48652787_48652792del
GRCh38.p14 chr 19	NC_000019.10:g.48652788_48652792del
GRCh38.p14 chr 19	NC_000019.10:g.48652789_48652792del
GRCh38.p14 chr 19	NC_000019.10:g.48652790_48652792del
GRCh38.p14 chr 19	NC_000019.10:g.48652791_48652792del
GRCh38.p14 chr 19	NC_000019.10:g.48652792del
GRCh38.p14 chr 19	NC_000019.10:g.48652792dup
GRCh38.p14 chr 19	NC_000019.10:g.48652791_48652792dup
GRCh38.p14 chr 19	NC_000019.10:g.48652790_48652792dup
GRCh38.p14 chr 19	NC_000019.10:g.48652789_48652792dup
GRCh38.p14 chr 19	NC_000019.10:g.48652787_48652792dup
GRCh37.p13 chr 19	NC_000019.9:g.49156032_49156049del
GRCh37.p13 chr 19	NC_000019.9:g.49156034_49156049del
GRCh37.p13 chr 19	NC_000019.9:g.49156035_49156049del
GRCh37.p13 chr 19	NC_000019.9:g.49156036_49156049del
GRCh37.p13 chr 19	NC_000019.9:g.49156037_49156049del
GRCh37.p13 chr 19	NC_000019.9:g.49156038_49156049del
GRCh37.p13 chr 19	NC_000019.9:g.49156039_49156049del
GRCh37.p13 chr 19	NC_000019.9:g.49156040_49156049del
GRCh37.p13 chr 19	NC_000019.9:g.49156041_49156049del
GRCh37.p13 chr 19	NC_000019.9:g.49156042_49156049del
GRCh37.p13 chr 19	NC_000019.9:g.49156043_49156049del
GRCh37.p13 chr 19	NC_000019.9:g.49156044_49156049del
GRCh37.p13 chr 19	NC_000019.9:g.49156045_49156049del
GRCh37.p13 chr 19	NC_000019.9:g.49156046_49156049del
GRCh37.p13 chr 19	NC_000019.9:g.49156047_49156049del
GRCh37.p13 chr 19	NC_000019.9:g.49156048_49156049del
GRCh37.p13 chr 19	NC_000019.9:g.49156049del
GRCh37.p13 chr 19	NC_000019.9:g.49156049dup
GRCh37.p13 chr 19	NC_000019.9:g.49156048_49156049dup
GRCh37.p13 chr 19	NC_000019.9:g.49156047_49156049dup
GRCh37.p13 chr 19	NC_000019.9:g.49156046_49156049dup
GRCh37.p13 chr 19	NC_000019.9:g.49156044_49156049dup

Gene: SEC1P, secretory blood group 1, pseudogene (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SEC1P transcript	NR_004401.2:n.	N/A	Intron Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	(A)₂₆=	del(A)₁₈	del(A)₁₆	del(A)₁₅	del(A)₁₄	del(A)₁₃	del(A)₁₂	del(A)₁₁	del(A)₁₀	del(A)₉	del(A)₈	del(A)₇	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₆
GRCh38.p14 chr 19	NC_000019.10:g.48652767_48652792=	NC_000019.10:g.48652775_48652792del	NC_000019.10:g.48652777_48652792del	NC_000019.10:g.48652778_48652792del	NC_000019.10:g.48652779_48652792del	NC_000019.10:g.48652780_48652792del	NC_000019.10:g.48652781_48652792del	NC_000019.10:g.48652782_48652792del	NC_000019.10:g.48652783_48652792del	NC_000019.10:g.48652784_48652792del	NC_000019.10:g.48652785_48652792del	NC_000019.10:g.48652786_48652792del	NC_000019.10:g.48652787_48652792del	NC_000019.10:g.48652788_48652792del	NC_000019.10:g.48652789_48652792del	NC_000019.10:g.48652790_48652792del	NC_000019.10:g.48652791_48652792del	NC_000019.10:g.48652792del	NC_000019.10:g.48652792dup	NC_000019.10:g.48652791_48652792dup	NC_000019.10:g.48652790_48652792dup	NC_000019.10:g.48652789_48652792dup	NC_000019.10:g.48652787_48652792dup
GRCh37.p13 chr 19	NC_000019.9:g.49156024_49156049=	NC_000019.9:g.49156032_49156049del	NC_000019.9:g.49156034_49156049del	NC_000019.9:g.49156035_49156049del	NC_000019.9:g.49156036_49156049del	NC_000019.9:g.49156037_49156049del	NC_000019.9:g.49156038_49156049del	NC_000019.9:g.49156039_49156049del	NC_000019.9:g.49156040_49156049del	NC_000019.9:g.49156041_49156049del	NC_000019.9:g.49156042_49156049del	NC_000019.9:g.49156043_49156049del	NC_000019.9:g.49156044_49156049del	NC_000019.9:g.49156045_49156049del	NC_000019.9:g.49156046_49156049del	NC_000019.9:g.49156047_49156049del	NC_000019.9:g.49156048_49156049del	NC_000019.9:g.49156049del	NC_000019.9:g.49156049dup	NC_000019.9:g.49156048_49156049dup	NC_000019.9:g.49156047_49156049dup	NC_000019.9:g.49156046_49156049dup	NC_000019.9:g.49156044_49156049dup

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#.

35 SubSNP, 31 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss81699672	Dec 14, 2007 (129)
2	HGSV	ss81702651	Dec 14, 2007 (129)
3	HGSV	ss81984299	Dec 14, 2007 (129)
4	EVA_GENOME_DK	ss1575299277	Apr 01, 2015 (144)
5	SWEGEN	ss3017592124	Nov 08, 2017 (151)
6	URBANLAB	ss3650931712	Oct 12, 2018 (152)
7	GNOMAD	ss4332443739	Apr 26, 2021 (155)
8	GNOMAD	ss4332443740	Apr 26, 2021 (155)
9	GNOMAD	ss4332443741	Apr 26, 2021 (155)
10	GNOMAD	ss4332443742	Apr 26, 2021 (155)
11	GNOMAD	ss4332443743	Apr 26, 2021 (155)
12	GNOMAD	ss4332443744	Apr 26, 2021 (155)
13	GNOMAD	ss4332443745	Apr 26, 2021 (155)
14	GNOMAD	ss4332443746	Apr 26, 2021 (155)
15	GNOMAD	ss4332443747	Apr 26, 2021 (155)
16	GNOMAD	ss4332443748	Apr 26, 2021 (155)
17	GNOMAD	ss4332443749	Apr 26, 2021 (155)
18	GNOMAD	ss4332443750	Apr 26, 2021 (155)
19	GNOMAD	ss4332443751	Apr 26, 2021 (155)
20	GNOMAD	ss4332443752	Apr 26, 2021 (155)
21	GNOMAD	ss4332443753	Apr 26, 2021 (155)
22	GNOMAD	ss4332443754	Apr 26, 2021 (155)
23	GNOMAD	ss4332443755	Apr 26, 2021 (155)
24	GNOMAD	ss4332443756	Apr 26, 2021 (155)
25	GNOMAD	ss4332443757	Apr 26, 2021 (155)
26	GNOMAD	ss4332443758	Apr 26, 2021 (155)
27	TOMMO_GENOMICS	ss5228095944	Apr 26, 2021 (155)
28	TOMMO_GENOMICS	ss5228095945	Apr 26, 2021 (155)
29	TOMMO_GENOMICS	ss5228095946	Apr 26, 2021 (155)
30	TOMMO_GENOMICS	ss5228095947	Apr 26, 2021 (155)
31	HUGCELL_USP	ss5499984572	Oct 16, 2022 (156)
32	TOMMO_GENOMICS	ss5786842996	Oct 16, 2022 (156)
33	TOMMO_GENOMICS	ss5786842997	Oct 16, 2022 (156)
34	TOMMO_GENOMICS	ss5786842998	Oct 16, 2022 (156)
35	TOMMO_GENOMICS	ss5786842999	Oct 16, 2022 (156)
36	The Danish reference pan genome	NC_000019.9 - 49156024	Apr 27, 2020 (154)
37	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542039987 (NC_000019.10:48652766::A 19943/65312) Row 542039988 (NC_000019.10:48652766::AA 1905/65330) Row 542039989 (NC_000019.10:48652766::AAA 18/65360)...	-	Apr 26, 2021 (155)
38	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542039987 (NC_000019.10:48652766::A 19943/65312) Row 542039988 (NC_000019.10:48652766::AA 1905/65330) Row 542039989 (NC_000019.10:48652766::AAA 18/65360)...	-	Apr 26, 2021 (155)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542039987 (NC_000019.10:48652766::A 19943/65312) Row 542039988 (NC_000019.10:48652766::AA 1905/65330) Row 542039989 (NC_000019.10:48652766::AAA 18/65360)...	-	Apr 26, 2021 (155)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542039987 (NC_000019.10:48652766::A 19943/65312) Row 542039988 (NC_000019.10:48652766::AA 1905/65330) Row 542039989 (NC_000019.10:48652766::AAA 18/65360)...	-	Apr 26, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542039987 (NC_000019.10:48652766::A 19943/65312) Row 542039988 (NC_000019.10:48652766::AA 1905/65330) Row 542039989 (NC_000019.10:48652766::AAA 18/65360)...	-	Apr 26, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542039987 (NC_000019.10:48652766::A 19943/65312) Row 542039988 (NC_000019.10:48652766::AA 1905/65330) Row 542039989 (NC_000019.10:48652766::AAA 18/65360)...	-	Apr 26, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542039987 (NC_000019.10:48652766::A 19943/65312) Row 542039988 (NC_000019.10:48652766::AA 1905/65330) Row 542039989 (NC_000019.10:48652766::AAA 18/65360)...	-	Apr 26, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542039987 (NC_000019.10:48652766::A 19943/65312) Row 542039988 (NC_000019.10:48652766::AA 1905/65330) Row 542039989 (NC_000019.10:48652766::AAA 18/65360)...	-	Apr 26, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542039987 (NC_000019.10:48652766::A 19943/65312) Row 542039988 (NC_000019.10:48652766::AA 1905/65330) Row 542039989 (NC_000019.10:48652766::AAA 18/65360)...	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542039987 (NC_000019.10:48652766::A 19943/65312) Row 542039988 (NC_000019.10:48652766::AA 1905/65330) Row 542039989 (NC_000019.10:48652766::AAA 18/65360)...	-	Apr 26, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542039987 (NC_000019.10:48652766::A 19943/65312) Row 542039988 (NC_000019.10:48652766::AA 1905/65330) Row 542039989 (NC_000019.10:48652766::AAA 18/65360)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542039987 (NC_000019.10:48652766::A 19943/65312) Row 542039988 (NC_000019.10:48652766::AA 1905/65330) Row 542039989 (NC_000019.10:48652766::AAA 18/65360)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542039987 (NC_000019.10:48652766::A 19943/65312) Row 542039988 (NC_000019.10:48652766::AA 1905/65330) Row 542039989 (NC_000019.10:48652766::AAA 18/65360)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542039987 (NC_000019.10:48652766::A 19943/65312) Row 542039988 (NC_000019.10:48652766::AA 1905/65330) Row 542039989 (NC_000019.10:48652766::AAA 18/65360)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542039987 (NC_000019.10:48652766::A 19943/65312) Row 542039988 (NC_000019.10:48652766::AA 1905/65330) Row 542039989 (NC_000019.10:48652766::AAA 18/65360)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542039987 (NC_000019.10:48652766::A 19943/65312) Row 542039988 (NC_000019.10:48652766::AA 1905/65330) Row 542039989 (NC_000019.10:48652766::AAA 18/65360)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542039987 (NC_000019.10:48652766::A 19943/65312) Row 542039988 (NC_000019.10:48652766::AA 1905/65330) Row 542039989 (NC_000019.10:48652766::AAA 18/65360)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542039987 (NC_000019.10:48652766::A 19943/65312) Row 542039988 (NC_000019.10:48652766::AA 1905/65330) Row 542039989 (NC_000019.10:48652766::AAA 18/65360)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542039987 (NC_000019.10:48652766::A 19943/65312) Row 542039988 (NC_000019.10:48652766::AA 1905/65330) Row 542039989 (NC_000019.10:48652766::AAA 18/65360)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542039987 (NC_000019.10:48652766::A 19943/65312) Row 542039988 (NC_000019.10:48652766::AA 1905/65330) Row 542039989 (NC_000019.10:48652766::AAA 18/65360)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542039987 (NC_000019.10:48652766::A 19943/65312) Row 542039988 (NC_000019.10:48652766::AA 1905/65330) Row 542039989 (NC_000019.10:48652766::AAA 18/65360)...	-	Apr 26, 2021 (155)
58	8.3KJPN Submission ignored due to conflicting rows: Row 86065251 (NC_000019.9:49156023:AA: 284/13812) Row 86065252 (NC_000019.9:49156023:A: 4383/13812) Row 86065253 (NC_000019.9:49156023::A 973/13812)...	-	Apr 26, 2021 (155)
59	8.3KJPN Submission ignored due to conflicting rows: Row 86065251 (NC_000019.9:49156023:AA: 284/13812) Row 86065252 (NC_000019.9:49156023:A: 4383/13812) Row 86065253 (NC_000019.9:49156023::A 973/13812)...	-	Apr 26, 2021 (155)
60	8.3KJPN Submission ignored due to conflicting rows: Row 86065251 (NC_000019.9:49156023:AA: 284/13812) Row 86065252 (NC_000019.9:49156023:A: 4383/13812) Row 86065253 (NC_000019.9:49156023::A 973/13812)...	-	Apr 26, 2021 (155)
61	8.3KJPN Submission ignored due to conflicting rows: Row 86065251 (NC_000019.9:49156023:AA: 284/13812) Row 86065252 (NC_000019.9:49156023:A: 4383/13812) Row 86065253 (NC_000019.9:49156023::A 973/13812)...	-	Apr 26, 2021 (155)
62	14KJPN Submission ignored due to conflicting rows: Row 120680100 (NC_000019.10:48652766:A: 11720/26826) Row 120680101 (NC_000019.10:48652766::A 3064/26826) Row 120680102 (NC_000019.10:48652766:AA: 674/26826)...	-	Oct 16, 2022 (156)
63	14KJPN Submission ignored due to conflicting rows: Row 120680100 (NC_000019.10:48652766:A: 11720/26826) Row 120680101 (NC_000019.10:48652766::A 3064/26826) Row 120680102 (NC_000019.10:48652766:AA: 674/26826)...	-	Oct 16, 2022 (156)
64	14KJPN Submission ignored due to conflicting rows: Row 120680100 (NC_000019.10:48652766:A: 11720/26826) Row 120680101 (NC_000019.10:48652766::A 3064/26826) Row 120680102 (NC_000019.10:48652766:AA: 674/26826)...	-	Oct 16, 2022 (156)
65	14KJPN Submission ignored due to conflicting rows: Row 120680100 (NC_000019.10:48652766:A: 11720/26826) Row 120680101 (NC_000019.10:48652766::A 3064/26826) Row 120680102 (NC_000019.10:48652766:AA: 674/26826)...	-	Oct 16, 2022 (156)
66	ALFA	NC_000019.10 - 48652767	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
ss4332443758	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAA:	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA	(self)
3190751014	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA	(self)
3190751014	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss4332443757	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAA:	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
3190751014	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss4332443756	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAA:	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
3190751014	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4332443755	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAA:	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
3190751014	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4332443754	NC_000019.10:48652766:AAAAAAAAAAAA:	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
3190751014	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4332443753	NC_000019.10:48652766:AAAAAAAAAAA:	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
3190751014	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4332443752	NC_000019.10:48652766:AAAAAAAAAA:	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
3190751014	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4332443751	NC_000019.10:48652766:AAAAAAAAA:	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
3190751014	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4332443750	NC_000019.10:48652766:AAAAAAAA:	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
3190751014	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4332443749	NC_000019.10:48652766:AAAAAAA:	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
3190751014	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4332443748	NC_000019.10:48652766:AAAAAA:	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
3190751014	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4332443747	NC_000019.10:48652766:AAAAA:	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
3190751014	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4332443746	NC_000019.10:48652766:AAAA:	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
3190751014	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4332443745	NC_000019.10:48652766:AAA:	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
3190751014	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5228095944	NC_000019.9:49156023:AA:	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4332443744, ss5786842998	NC_000019.10:48652766:AA:	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
3190751014	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss81699672, ss81702651, ss81984299	NC_000019.8:53847860:A:	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3017592124, ss5228095945	NC_000019.9:49156023:A:	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3650931712, ss5499984572, ss5786842996	NC_000019.10:48652766:A:	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
3190751014	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5228095946	NC_000019.9:49156023::A	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4332443739, ss5786842997	NC_000019.10:48652766::A	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
3190751014	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
638296, ss1575299277, ss5228095947	NC_000019.9:49156023::AA	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4332443740, ss5786842999	NC_000019.10:48652766::AA	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
3190751014	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4332443741	NC_000019.10:48652766::AAA	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
3190751014	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4332443742	NC_000019.10:48652766::AAAA	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
3190751014	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4332443743	NC_000019.10:48652766::AAAAAA	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
3190751014	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000019.10:48652766:AAAAAAAAAAAA… NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(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 rs57474977

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

rs57474977