Name: rs56863489
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.

rs56863489

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:16457708-16457729 (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)₁₄ / del(T)₁₁ / del(T)₁₀ / d…
del(T)₁₄ / del(T)₁₁ / del(T)₁₀ / del(T)₈ / del(T)₇ / del(T)₅ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅ / dup(T)₆ / dup(T)₇ / dup(T)₈ / dup(T)₉ / dup(T)₁₀ / dup(T)₁₈ / dup(T)₁₉ / ins(T)₂₇ / ins(T)₃₈
Variation Type: Indel Insertion and Deletion
Frequency: dupT=0.01841 (272/14771, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: NECAP2 : 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	14771	TTTTTTTTTTTTTTTTTTTTTT=0.97150	TTTTTTTT=0.00000, TTTTTTTTTTT=0.00000, TTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTT=0.01841, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00102, TTTTTTTTTTTTTTTTTTTTTTTT=0.00670, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00088, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00149, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00000	0.969521	0.006096	0.024383	32
European	Sub	12705	TTTTTTTTTTTTTTTTTTTTTT=0.96686	TTTTTTTT=0.00000, TTTTTTTTTTT=0.00000, TTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTT=0.02141, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00118, TTTTTTTTTTTTTTTTTTTTTTTT=0.00779, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00102, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00173, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00000	0.96443	0.007114	0.028456	32
African	Sub	918	TTTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	32	TTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	886	TTTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	100	TTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	76	TTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	24	TTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	88	TTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	528	TTTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	90	TTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	342	TTTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	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	14771	(T)₂₂=0.97150	del(T)₁₄=0.00000, del(T)₁₁=0.00000, del(T)₁₀=0.00000, del(T)₈=0.00000, del(T)₇=0.00000, del(T)₄=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.00000, dupT=0.01841, dupTT=0.00670, dupTTT=0.00088, dup(T)₄=0.00000, dup(T)₈=0.00149, dup(T)₁₉=0.00102
Allele Frequency Aggregator	European	Sub	12705	(T)₂₂=0.96686	del(T)₁₄=0.00000, del(T)₁₁=0.00000, del(T)₁₀=0.00000, del(T)₈=0.00000, del(T)₇=0.00000, del(T)₄=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.00000, dupT=0.02141, dupTT=0.00779, dupTTT=0.00102, dup(T)₄=0.00000, dup(T)₈=0.00173, dup(T)₁₉=0.00118
Allele Frequency Aggregator	African	Sub	918	(T)₂₂=1.000	del(T)₁₄=0.000, del(T)₁₁=0.000, del(T)₁₀=0.000, del(T)₈=0.000, del(T)₇=0.000, del(T)₄=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)₈=0.000, dup(T)₁₉=0.000
Allele Frequency Aggregator	Latin American 2	Sub	528	(T)₂₂=1.000	del(T)₁₄=0.000, del(T)₁₁=0.000, del(T)₁₀=0.000, del(T)₈=0.000, del(T)₇=0.000, del(T)₄=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)₈=0.000, dup(T)₁₉=0.000
Allele Frequency Aggregator	Other	Sub	342	(T)₂₂=1.000	del(T)₁₄=0.000, del(T)₁₁=0.000, del(T)₁₀=0.000, del(T)₈=0.000, del(T)₇=0.000, del(T)₄=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)₈=0.000, dup(T)₁₉=0.000
Allele Frequency Aggregator	Asian	Sub	100	(T)₂₂=1.00	del(T)₁₄=0.00, del(T)₁₁=0.00, del(T)₁₀=0.00, del(T)₈=0.00, del(T)₇=0.00, del(T)₄=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)₈=0.00, dup(T)₁₉=0.00
Allele Frequency Aggregator	South Asian	Sub	90	(T)₂₂=1.00	del(T)₁₄=0.00, del(T)₁₁=0.00, del(T)₁₀=0.00, del(T)₈=0.00, del(T)₇=0.00, del(T)₄=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)₈=0.00, dup(T)₁₉=0.00
Allele Frequency Aggregator	Latin American 1	Sub	88	(T)₂₂=1.00	del(T)₁₄=0.00, del(T)₁₁=0.00, del(T)₁₀=0.00, del(T)₈=0.00, del(T)₇=0.00, del(T)₄=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)₈=0.00, dup(T)₁₉=0.00

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 1	NC_000001.11:g.16457716_16457729del
GRCh38.p14 chr 1	NC_000001.11:g.16457719_16457729del
GRCh38.p14 chr 1	NC_000001.11:g.16457720_16457729del
GRCh38.p14 chr 1	NC_000001.11:g.16457722_16457729del
GRCh38.p14 chr 1	NC_000001.11:g.16457723_16457729del
GRCh38.p14 chr 1	NC_000001.11:g.16457725_16457729del
GRCh38.p14 chr 1	NC_000001.11:g.16457726_16457729del
GRCh38.p14 chr 1	NC_000001.11:g.16457727_16457729del
GRCh38.p14 chr 1	NC_000001.11:g.16457728_16457729del
GRCh38.p14 chr 1	NC_000001.11:g.16457729del
GRCh38.p14 chr 1	NC_000001.11:g.16457729dup
GRCh38.p14 chr 1	NC_000001.11:g.16457728_16457729dup
GRCh38.p14 chr 1	NC_000001.11:g.16457727_16457729dup
GRCh38.p14 chr 1	NC_000001.11:g.16457726_16457729dup
GRCh38.p14 chr 1	NC_000001.11:g.16457725_16457729dup
GRCh38.p14 chr 1	NC_000001.11:g.16457724_16457729dup
GRCh38.p14 chr 1	NC_000001.11:g.16457723_16457729dup
GRCh38.p14 chr 1	NC_000001.11:g.16457722_16457729dup
GRCh38.p14 chr 1	NC_000001.11:g.16457721_16457729dup
GRCh38.p14 chr 1	NC_000001.11:g.16457720_16457729dup
GRCh38.p14 chr 1	NC_000001.11:g.16457712_16457729dup
GRCh38.p14 chr 1	NC_000001.11:g.16457711_16457729dup
GRCh38.p14 chr 1	NC_000001.11:g.16457729_16457730insTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 1	NC_000001.11:g.16457729_16457730insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 1	NC_000001.10:g.16784211_16784224del
GRCh37.p13 chr 1	NC_000001.10:g.16784214_16784224del
GRCh37.p13 chr 1	NC_000001.10:g.16784215_16784224del
GRCh37.p13 chr 1	NC_000001.10:g.16784217_16784224del
GRCh37.p13 chr 1	NC_000001.10:g.16784218_16784224del
GRCh37.p13 chr 1	NC_000001.10:g.16784220_16784224del
GRCh37.p13 chr 1	NC_000001.10:g.16784221_16784224del
GRCh37.p13 chr 1	NC_000001.10:g.16784222_16784224del
GRCh37.p13 chr 1	NC_000001.10:g.16784223_16784224del
GRCh37.p13 chr 1	NC_000001.10:g.16784224del
GRCh37.p13 chr 1	NC_000001.10:g.16784224dup
GRCh37.p13 chr 1	NC_000001.10:g.16784223_16784224dup
GRCh37.p13 chr 1	NC_000001.10:g.16784222_16784224dup
GRCh37.p13 chr 1	NC_000001.10:g.16784221_16784224dup
GRCh37.p13 chr 1	NC_000001.10:g.16784220_16784224dup
GRCh37.p13 chr 1	NC_000001.10:g.16784219_16784224dup
GRCh37.p13 chr 1	NC_000001.10:g.16784218_16784224dup
GRCh37.p13 chr 1	NC_000001.10:g.16784217_16784224dup
GRCh37.p13 chr 1	NC_000001.10:g.16784216_16784224dup
GRCh37.p13 chr 1	NC_000001.10:g.16784215_16784224dup
GRCh37.p13 chr 1	NC_000001.10:g.16784207_16784224dup
GRCh37.p13 chr 1	NC_000001.10:g.16784206_16784224dup
GRCh37.p13 chr 1	NC_000001.10:g.16784224_16784225insTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 1	NC_000001.10:g.16784224_16784225insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NECAP2 RefSeqGene	NG_047165.1:g.22045_22058del
NECAP2 RefSeqGene	NG_047165.1:g.22048_22058del
NECAP2 RefSeqGene	NG_047165.1:g.22049_22058del
NECAP2 RefSeqGene	NG_047165.1:g.22051_22058del
NECAP2 RefSeqGene	NG_047165.1:g.22052_22058del
NECAP2 RefSeqGene	NG_047165.1:g.22054_22058del
NECAP2 RefSeqGene	NG_047165.1:g.22055_22058del
NECAP2 RefSeqGene	NG_047165.1:g.22056_22058del
NECAP2 RefSeqGene	NG_047165.1:g.22057_22058del
NECAP2 RefSeqGene	NG_047165.1:g.22058del
NECAP2 RefSeqGene	NG_047165.1:g.22058dup
NECAP2 RefSeqGene	NG_047165.1:g.22057_22058dup
NECAP2 RefSeqGene	NG_047165.1:g.22056_22058dup
NECAP2 RefSeqGene	NG_047165.1:g.22055_22058dup
NECAP2 RefSeqGene	NG_047165.1:g.22054_22058dup
NECAP2 RefSeqGene	NG_047165.1:g.22053_22058dup
NECAP2 RefSeqGene	NG_047165.1:g.22052_22058dup
NECAP2 RefSeqGene	NG_047165.1:g.22051_22058dup
NECAP2 RefSeqGene	NG_047165.1:g.22050_22058dup
NECAP2 RefSeqGene	NG_047165.1:g.22049_22058dup
NECAP2 RefSeqGene	NG_047165.1:g.22041_22058dup
NECAP2 RefSeqGene	NG_047165.1:g.22040_22058dup
NECAP2 RefSeqGene	NG_047165.1:g.22058_22059insTTTTTTTTTTTTTTTTTTTTTTTTTTT
NECAP2 RefSeqGene	NG_047165.1:g.22058_22059insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 1 fix patch HG1343_HG173_HG459_PATCH	NW_025791756.1:g.261981_261994del
GRCh38.p14 chr 1 fix patch HG1343_HG173_HG459_PATCH	NW_025791756.1:g.261984_261994del
GRCh38.p14 chr 1 fix patch HG1343_HG173_HG459_PATCH	NW_025791756.1:g.261985_261994del
GRCh38.p14 chr 1 fix patch HG1343_HG173_HG459_PATCH	NW_025791756.1:g.261987_261994del
GRCh38.p14 chr 1 fix patch HG1343_HG173_HG459_PATCH	NW_025791756.1:g.261988_261994del
GRCh38.p14 chr 1 fix patch HG1343_HG173_HG459_PATCH	NW_025791756.1:g.261990_261994del
GRCh38.p14 chr 1 fix patch HG1343_HG173_HG459_PATCH	NW_025791756.1:g.261991_261994del
GRCh38.p14 chr 1 fix patch HG1343_HG173_HG459_PATCH	NW_025791756.1:g.261992_261994del
GRCh38.p14 chr 1 fix patch HG1343_HG173_HG459_PATCH	NW_025791756.1:g.261993_261994del
GRCh38.p14 chr 1 fix patch HG1343_HG173_HG459_PATCH	NW_025791756.1:g.261994del
GRCh38.p14 chr 1 fix patch HG1343_HG173_HG459_PATCH	NW_025791756.1:g.261994dup
GRCh38.p14 chr 1 fix patch HG1343_HG173_HG459_PATCH	NW_025791756.1:g.261993_261994dup
GRCh38.p14 chr 1 fix patch HG1343_HG173_HG459_PATCH	NW_025791756.1:g.261992_261994dup
GRCh38.p14 chr 1 fix patch HG1343_HG173_HG459_PATCH	NW_025791756.1:g.261991_261994dup
GRCh38.p14 chr 1 fix patch HG1343_HG173_HG459_PATCH	NW_025791756.1:g.261990_261994dup
GRCh38.p14 chr 1 fix patch HG1343_HG173_HG459_PATCH	NW_025791756.1:g.261989_261994dup
GRCh38.p14 chr 1 fix patch HG1343_HG173_HG459_PATCH	NW_025791756.1:g.261988_261994dup
GRCh38.p14 chr 1 fix patch HG1343_HG173_HG459_PATCH	NW_025791756.1:g.261987_261994dup
GRCh38.p14 chr 1 fix patch HG1343_HG173_HG459_PATCH	NW_025791756.1:g.261986_261994dup
GRCh38.p14 chr 1 fix patch HG1343_HG173_HG459_PATCH	NW_025791756.1:g.261985_261994dup
GRCh38.p14 chr 1 fix patch HG1343_HG173_HG459_PATCH	NW_025791756.1:g.261977_261994dup
GRCh38.p14 chr 1 fix patch HG1343_HG173_HG459_PATCH	NW_025791756.1:g.261976_261994dup
GRCh38.p14 chr 1 fix patch HG1343_HG173_HG459_PATCH	NW_025791756.1:g.261994_261995insTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 1 fix patch HG1343_HG173_HG459_PATCH	NW_025791756.1:g.261994_261995insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Gene: NECAP2, NECAP endocytosis associated 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NECAP2 transcript variant 2	NM_001145277.2:c.668-1126… NM_001145277.2:c.668-1126_668-1113del	N/A	Intron Variant
NECAP2 transcript variant 3	NM_001145278.2:c.666-1126… NM_001145278.2:c.666-1126_666-1113del	N/A	Intron Variant
NECAP2 transcript variant 1	NM_018090.5:c.744-1126_74… NM_018090.5:c.744-1126_744-1113del	N/A	Intron Variant
NECAP2 transcript variant X1	XM_047424713.1:c.509-1126… XM_047424713.1:c.509-1126_509-1113del	N/A	Intron Variant
NECAP2 transcript variant X2	XM_047424715.1: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	(T)₂₂=	del(T)₁₄	del(T)₁₁	del(T)₁₀	del(T)₈	del(T)₇	del(T)₅	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅	dup(T)₆	dup(T)₇	dup(T)₈	dup(T)₉	dup(T)₁₀	dup(T)₁₈	dup(T)₁₉	ins(T)₂₇	ins(T)₃₈
GRCh38.p14 chr 1	NC_000001.11:g.16457708_16457729=	NC_000001.11:g.16457716_16457729del	NC_000001.11:g.16457719_16457729del	NC_000001.11:g.16457720_16457729del	NC_000001.11:g.16457722_16457729del	NC_000001.11:g.16457723_16457729del	NC_000001.11:g.16457725_16457729del	NC_000001.11:g.16457726_16457729del	NC_000001.11:g.16457727_16457729del	NC_000001.11:g.16457728_16457729del	NC_000001.11:g.16457729del	NC_000001.11:g.16457729dup	NC_000001.11:g.16457728_16457729dup	NC_000001.11:g.16457727_16457729dup	NC_000001.11:g.16457726_16457729dup	NC_000001.11:g.16457725_16457729dup	NC_000001.11:g.16457724_16457729dup	NC_000001.11:g.16457723_16457729dup	NC_000001.11:g.16457722_16457729dup	NC_000001.11:g.16457721_16457729dup	NC_000001.11:g.16457720_16457729dup	NC_000001.11:g.16457712_16457729dup	NC_000001.11:g.16457711_16457729dup	NC_000001.11:g.16457729_16457730insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:g.16457729_16457730insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 1	NC_000001.10:g.16784203_16784224=	NC_000001.10:g.16784211_16784224del	NC_000001.10:g.16784214_16784224del	NC_000001.10:g.16784215_16784224del	NC_000001.10:g.16784217_16784224del	NC_000001.10:g.16784218_16784224del	NC_000001.10:g.16784220_16784224del	NC_000001.10:g.16784221_16784224del	NC_000001.10:g.16784222_16784224del	NC_000001.10:g.16784223_16784224del	NC_000001.10:g.16784224del	NC_000001.10:g.16784224dup	NC_000001.10:g.16784223_16784224dup	NC_000001.10:g.16784222_16784224dup	NC_000001.10:g.16784221_16784224dup	NC_000001.10:g.16784220_16784224dup	NC_000001.10:g.16784219_16784224dup	NC_000001.10:g.16784218_16784224dup	NC_000001.10:g.16784217_16784224dup	NC_000001.10:g.16784216_16784224dup	NC_000001.10:g.16784215_16784224dup	NC_000001.10:g.16784207_16784224dup	NC_000001.10:g.16784206_16784224dup	NC_000001.10:g.16784224_16784225insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000001.10:g.16784224_16784225insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NECAP2 RefSeqGene	NG_047165.1:g.22037_22058=	NG_047165.1:g.22045_22058del	NG_047165.1:g.22048_22058del	NG_047165.1:g.22049_22058del	NG_047165.1:g.22051_22058del	NG_047165.1:g.22052_22058del	NG_047165.1:g.22054_22058del	NG_047165.1:g.22055_22058del	NG_047165.1:g.22056_22058del	NG_047165.1:g.22057_22058del	NG_047165.1:g.22058del	NG_047165.1:g.22058dup	NG_047165.1:g.22057_22058dup	NG_047165.1:g.22056_22058dup	NG_047165.1:g.22055_22058dup	NG_047165.1:g.22054_22058dup	NG_047165.1:g.22053_22058dup	NG_047165.1:g.22052_22058dup	NG_047165.1:g.22051_22058dup	NG_047165.1:g.22050_22058dup	NG_047165.1:g.22049_22058dup	NG_047165.1:g.22041_22058dup	NG_047165.1:g.22040_22058dup	NG_047165.1:g.22058_22059insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NG_047165.1:g.22058_22059insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 1 fix patch HG1343_HG173_HG459_PATCH	NW_025791756.1:g.261973_261994=	NW_025791756.1:g.261981_261994del	NW_025791756.1:g.261984_261994del	NW_025791756.1:g.261985_261994del	NW_025791756.1:g.261987_261994del	NW_025791756.1:g.261988_261994del	NW_025791756.1:g.261990_261994del	NW_025791756.1:g.261991_261994del	NW_025791756.1:g.261992_261994del	NW_025791756.1:g.261993_261994del	NW_025791756.1:g.261994del	NW_025791756.1:g.261994dup	NW_025791756.1:g.261993_261994dup	NW_025791756.1:g.261992_261994dup	NW_025791756.1:g.261991_261994dup	NW_025791756.1:g.261990_261994dup	NW_025791756.1:g.261989_261994dup	NW_025791756.1:g.261988_261994dup	NW_025791756.1:g.261987_261994dup	NW_025791756.1:g.261986_261994dup	NW_025791756.1:g.261985_261994dup	NW_025791756.1:g.261977_261994dup	NW_025791756.1:g.261976_261994dup	NW_025791756.1:g.261994_261995insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NW_025791756.1:g.261994_261995insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NECAP2 transcript variant 2	NM_001145277.1:c.668-1134=	NM_001145277.1:c.668-1126_668-1113del	NM_001145277.1:c.668-1123_668-1113del	NM_001145277.1:c.668-1122_668-1113del	NM_001145277.1:c.668-1120_668-1113del	NM_001145277.1:c.668-1119_668-1113del	NM_001145277.1:c.668-1117_668-1113del	NM_001145277.1:c.668-1116_668-1113del	NM_001145277.1:c.668-1115_668-1113del	NM_001145277.1:c.668-1114_668-1113del	NM_001145277.1:c.668-1113del	NM_001145277.1:c.668-1113dup	NM_001145277.1:c.668-1114_668-1113dup	NM_001145277.1:c.668-1115_668-1113dup	NM_001145277.1:c.668-1116_668-1113dup	NM_001145277.1:c.668-1117_668-1113dup	NM_001145277.1:c.668-1118_668-1113dup	NM_001145277.1:c.668-1119_668-1113dup	NM_001145277.1:c.668-1120_668-1113dup	NM_001145277.1:c.668-1121_668-1113dup	NM_001145277.1:c.668-1122_668-1113dup	NM_001145277.1:c.668-1130_668-1113dup	NM_001145277.1:c.668-1131_668-1113dup	NM_001145277.1:c.668-1113_668-1112insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001145277.1:c.668-1113_668-1112insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NECAP2 transcript variant 2	NM_001145277.2:c.668-1134=	NM_001145277.2:c.668-1126_668-1113del	NM_001145277.2:c.668-1123_668-1113del	NM_001145277.2:c.668-1122_668-1113del	NM_001145277.2:c.668-1120_668-1113del	NM_001145277.2:c.668-1119_668-1113del	NM_001145277.2:c.668-1117_668-1113del	NM_001145277.2:c.668-1116_668-1113del	NM_001145277.2:c.668-1115_668-1113del	NM_001145277.2:c.668-1114_668-1113del	NM_001145277.2:c.668-1113del	NM_001145277.2:c.668-1113dup	NM_001145277.2:c.668-1114_668-1113dup	NM_001145277.2:c.668-1115_668-1113dup	NM_001145277.2:c.668-1116_668-1113dup	NM_001145277.2:c.668-1117_668-1113dup	NM_001145277.2:c.668-1118_668-1113dup	NM_001145277.2:c.668-1119_668-1113dup	NM_001145277.2:c.668-1120_668-1113dup	NM_001145277.2:c.668-1121_668-1113dup	NM_001145277.2:c.668-1122_668-1113dup	NM_001145277.2:c.668-1130_668-1113dup	NM_001145277.2:c.668-1131_668-1113dup	NM_001145277.2:c.668-1113_668-1112insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001145277.2:c.668-1113_668-1112insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NECAP2 transcript variant 3	NM_001145278.1:c.666-1134=	NM_001145278.1:c.666-1126_666-1113del	NM_001145278.1:c.666-1123_666-1113del	NM_001145278.1:c.666-1122_666-1113del	NM_001145278.1:c.666-1120_666-1113del	NM_001145278.1:c.666-1119_666-1113del	NM_001145278.1:c.666-1117_666-1113del	NM_001145278.1:c.666-1116_666-1113del	NM_001145278.1:c.666-1115_666-1113del	NM_001145278.1:c.666-1114_666-1113del	NM_001145278.1:c.666-1113del	NM_001145278.1:c.666-1113dup	NM_001145278.1:c.666-1114_666-1113dup	NM_001145278.1:c.666-1115_666-1113dup	NM_001145278.1:c.666-1116_666-1113dup	NM_001145278.1:c.666-1117_666-1113dup	NM_001145278.1:c.666-1118_666-1113dup	NM_001145278.1:c.666-1119_666-1113dup	NM_001145278.1:c.666-1120_666-1113dup	NM_001145278.1:c.666-1121_666-1113dup	NM_001145278.1:c.666-1122_666-1113dup	NM_001145278.1:c.666-1130_666-1113dup	NM_001145278.1:c.666-1131_666-1113dup	NM_001145278.1:c.666-1113_666-1112insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001145278.1:c.666-1113_666-1112insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NECAP2 transcript variant 3	NM_001145278.2:c.666-1134=	NM_001145278.2:c.666-1126_666-1113del	NM_001145278.2:c.666-1123_666-1113del	NM_001145278.2:c.666-1122_666-1113del	NM_001145278.2:c.666-1120_666-1113del	NM_001145278.2:c.666-1119_666-1113del	NM_001145278.2:c.666-1117_666-1113del	NM_001145278.2:c.666-1116_666-1113del	NM_001145278.2:c.666-1115_666-1113del	NM_001145278.2:c.666-1114_666-1113del	NM_001145278.2:c.666-1113del	NM_001145278.2:c.666-1113dup	NM_001145278.2:c.666-1114_666-1113dup	NM_001145278.2:c.666-1115_666-1113dup	NM_001145278.2:c.666-1116_666-1113dup	NM_001145278.2:c.666-1117_666-1113dup	NM_001145278.2:c.666-1118_666-1113dup	NM_001145278.2:c.666-1119_666-1113dup	NM_001145278.2:c.666-1120_666-1113dup	NM_001145278.2:c.666-1121_666-1113dup	NM_001145278.2:c.666-1122_666-1113dup	NM_001145278.2:c.666-1130_666-1113dup	NM_001145278.2:c.666-1131_666-1113dup	NM_001145278.2:c.666-1113_666-1112insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001145278.2:c.666-1113_666-1112insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NECAP2 transcript variant 1	NM_018090.4:c.744-1134=	NM_018090.4:c.744-1126_744-1113del	NM_018090.4:c.744-1123_744-1113del	NM_018090.4:c.744-1122_744-1113del	NM_018090.4:c.744-1120_744-1113del	NM_018090.4:c.744-1119_744-1113del	NM_018090.4:c.744-1117_744-1113del	NM_018090.4:c.744-1116_744-1113del	NM_018090.4:c.744-1115_744-1113del	NM_018090.4:c.744-1114_744-1113del	NM_018090.4:c.744-1113del	NM_018090.4:c.744-1113dup	NM_018090.4:c.744-1114_744-1113dup	NM_018090.4:c.744-1115_744-1113dup	NM_018090.4:c.744-1116_744-1113dup	NM_018090.4:c.744-1117_744-1113dup	NM_018090.4:c.744-1118_744-1113dup	NM_018090.4:c.744-1119_744-1113dup	NM_018090.4:c.744-1120_744-1113dup	NM_018090.4:c.744-1121_744-1113dup	NM_018090.4:c.744-1122_744-1113dup	NM_018090.4:c.744-1130_744-1113dup	NM_018090.4:c.744-1131_744-1113dup	NM_018090.4:c.744-1113_744-1112insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_018090.4:c.744-1113_744-1112insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NECAP2 transcript variant 1	NM_018090.5:c.744-1134=	NM_018090.5:c.744-1126_744-1113del	NM_018090.5:c.744-1123_744-1113del	NM_018090.5:c.744-1122_744-1113del	NM_018090.5:c.744-1120_744-1113del	NM_018090.5:c.744-1119_744-1113del	NM_018090.5:c.744-1117_744-1113del	NM_018090.5:c.744-1116_744-1113del	NM_018090.5:c.744-1115_744-1113del	NM_018090.5:c.744-1114_744-1113del	NM_018090.5:c.744-1113del	NM_018090.5:c.744-1113dup	NM_018090.5:c.744-1114_744-1113dup	NM_018090.5:c.744-1115_744-1113dup	NM_018090.5:c.744-1116_744-1113dup	NM_018090.5:c.744-1117_744-1113dup	NM_018090.5:c.744-1118_744-1113dup	NM_018090.5:c.744-1119_744-1113dup	NM_018090.5:c.744-1120_744-1113dup	NM_018090.5:c.744-1121_744-1113dup	NM_018090.5:c.744-1122_744-1113dup	NM_018090.5:c.744-1130_744-1113dup	NM_018090.5:c.744-1131_744-1113dup	NM_018090.5:c.744-1113_744-1112insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_018090.5:c.744-1113_744-1112insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NECAP2 transcript variant X1	XM_047424713.1:c.509-1134=	XM_047424713.1:c.509-1126_509-1113del	XM_047424713.1:c.509-1123_509-1113del	XM_047424713.1:c.509-1122_509-1113del	XM_047424713.1:c.509-1120_509-1113del	XM_047424713.1:c.509-1119_509-1113del	XM_047424713.1:c.509-1117_509-1113del	XM_047424713.1:c.509-1116_509-1113del	XM_047424713.1:c.509-1115_509-1113del	XM_047424713.1:c.509-1114_509-1113del	XM_047424713.1:c.509-1113del	XM_047424713.1:c.509-1113dup	XM_047424713.1:c.509-1114_509-1113dup	XM_047424713.1:c.509-1115_509-1113dup	XM_047424713.1:c.509-1116_509-1113dup	XM_047424713.1:c.509-1117_509-1113dup	XM_047424713.1:c.509-1118_509-1113dup	XM_047424713.1:c.509-1119_509-1113dup	XM_047424713.1:c.509-1120_509-1113dup	XM_047424713.1:c.509-1121_509-1113dup	XM_047424713.1:c.509-1122_509-1113dup	XM_047424713.1:c.509-1130_509-1113dup	XM_047424713.1:c.509-1131_509-1113dup	XM_047424713.1:c.509-1113_509-1112insTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_047424713.1:c.509-1113_509-1112insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

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#.

37 SubSNP, 29 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss80071661	Dec 14, 2007 (129)
2	SWEGEN	ss2986370144	Nov 08, 2017 (151)
3	PACBIO	ss3789007731	Jul 12, 2019 (153)
4	PACBIO	ss3793880465	Jul 12, 2019 (153)
5	EVA	ss3826042874	Apr 25, 2020 (154)
6	GNOMAD	ss3988989147	Apr 27, 2021 (155)
7	GNOMAD	ss3988989148	Apr 27, 2021 (155)
8	GNOMAD	ss3988989149	Apr 27, 2021 (155)
9	GNOMAD	ss3988989150	Apr 27, 2021 (155)
10	GNOMAD	ss3988989151	Apr 27, 2021 (155)
11	GNOMAD	ss3988989152	Apr 27, 2021 (155)
12	GNOMAD	ss3988989153	Apr 27, 2021 (155)
13	GNOMAD	ss3988989154	Apr 27, 2021 (155)
14	GNOMAD	ss3988989155	Apr 27, 2021 (155)
15	GNOMAD	ss3988989156	Apr 27, 2021 (155)
16	GNOMAD	ss3988989157	Apr 27, 2021 (155)
17	GNOMAD	ss3988989158	Apr 27, 2021 (155)
18	GNOMAD	ss3988989159	Apr 27, 2021 (155)
19	GNOMAD	ss3988989160	Apr 27, 2021 (155)
20	GNOMAD	ss3988989161	Apr 27, 2021 (155)
21	GNOMAD	ss3988989162	Apr 27, 2021 (155)
22	GNOMAD	ss3988989163	Apr 27, 2021 (155)
23	TOPMED	ss4440474493	Apr 27, 2021 (155)
24	TOPMED	ss4440474494	Apr 27, 2021 (155)
25	TOPMED	ss4440474495	Apr 27, 2021 (155)
26	TOMMO_GENOMICS	ss5142669043	Apr 27, 2021 (155)
27	TOMMO_GENOMICS	ss5142669044	Apr 27, 2021 (155)
28	TOMMO_GENOMICS	ss5142669045	Apr 27, 2021 (155)
29	1000G_HIGH_COVERAGE	ss5241323506	Oct 12, 2022 (156)
30	HUGCELL_USP	ss5442500674	Oct 12, 2022 (156)
31	HUGCELL_USP	ss5442500675	Oct 12, 2022 (156)
32	HUGCELL_USP	ss5442500676	Oct 12, 2022 (156)
33	HUGCELL_USP	ss5442500677	Oct 12, 2022 (156)
34	TOMMO_GENOMICS	ss5667037334	Oct 12, 2022 (156)
35	TOMMO_GENOMICS	ss5667037335	Oct 12, 2022 (156)
36	TOMMO_GENOMICS	ss5667037337	Oct 12, 2022 (156)
37	TOMMO_GENOMICS	ss5667037338	Oct 12, 2022 (156)
38	gnomAD - Genomes Submission ignored due to conflicting rows: Row 3591747 (NC_000001.11:16457707::T 11579/96500) Row 3591748 (NC_000001.11:16457707::TT 2918/96234) Row 3591749 (NC_000001.11:16457707::TTT 348/96460)...	-	Apr 27, 2021 (155)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 3591747 (NC_000001.11:16457707::T 11579/96500) Row 3591748 (NC_000001.11:16457707::TT 2918/96234) Row 3591749 (NC_000001.11:16457707::TTT 348/96460)...	-	Apr 27, 2021 (155)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 3591747 (NC_000001.11:16457707::T 11579/96500) Row 3591748 (NC_000001.11:16457707::TT 2918/96234) Row 3591749 (NC_000001.11:16457707::TTT 348/96460)...	-	Apr 27, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 3591747 (NC_000001.11:16457707::T 11579/96500) Row 3591748 (NC_000001.11:16457707::TT 2918/96234) Row 3591749 (NC_000001.11:16457707::TTT 348/96460)...	-	Apr 27, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 3591747 (NC_000001.11:16457707::T 11579/96500) Row 3591748 (NC_000001.11:16457707::TT 2918/96234) Row 3591749 (NC_000001.11:16457707::TTT 348/96460)...	-	Apr 27, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 3591747 (NC_000001.11:16457707::T 11579/96500) Row 3591748 (NC_000001.11:16457707::TT 2918/96234) Row 3591749 (NC_000001.11:16457707::TTT 348/96460)...	-	Apr 27, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 3591747 (NC_000001.11:16457707::T 11579/96500) Row 3591748 (NC_000001.11:16457707::TT 2918/96234) Row 3591749 (NC_000001.11:16457707::TTT 348/96460)...	-	Apr 27, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 3591747 (NC_000001.11:16457707::T 11579/96500) Row 3591748 (NC_000001.11:16457707::TT 2918/96234) Row 3591749 (NC_000001.11:16457707::TTT 348/96460)...	-	Apr 27, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 3591747 (NC_000001.11:16457707::T 11579/96500) Row 3591748 (NC_000001.11:16457707::TT 2918/96234) Row 3591749 (NC_000001.11:16457707::TTT 348/96460)...	-	Apr 27, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 3591747 (NC_000001.11:16457707::T 11579/96500) Row 3591748 (NC_000001.11:16457707::TT 2918/96234) Row 3591749 (NC_000001.11:16457707::TTT 348/96460)...	-	Apr 27, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 3591747 (NC_000001.11:16457707::T 11579/96500) Row 3591748 (NC_000001.11:16457707::TT 2918/96234) Row 3591749 (NC_000001.11:16457707::TTT 348/96460)...	-	Apr 27, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 3591747 (NC_000001.11:16457707::T 11579/96500) Row 3591748 (NC_000001.11:16457707::TT 2918/96234) Row 3591749 (NC_000001.11:16457707::TTT 348/96460)...	-	Apr 27, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 3591747 (NC_000001.11:16457707::T 11579/96500) Row 3591748 (NC_000001.11:16457707::TT 2918/96234) Row 3591749 (NC_000001.11:16457707::TTT 348/96460)...	-	Apr 27, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 3591747 (NC_000001.11:16457707::T 11579/96500) Row 3591748 (NC_000001.11:16457707::TT 2918/96234) Row 3591749 (NC_000001.11:16457707::TTT 348/96460)...	-	Apr 27, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 3591747 (NC_000001.11:16457707::T 11579/96500) Row 3591748 (NC_000001.11:16457707::TT 2918/96234) Row 3591749 (NC_000001.11:16457707::TTT 348/96460)...	-	Apr 27, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 3591747 (NC_000001.11:16457707::T 11579/96500) Row 3591748 (NC_000001.11:16457707::TT 2918/96234) Row 3591749 (NC_000001.11:16457707::TTT 348/96460)...	-	Apr 27, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 3591747 (NC_000001.11:16457707::T 11579/96500) Row 3591748 (NC_000001.11:16457707::TT 2918/96234) Row 3591749 (NC_000001.11:16457707::TTT 348/96460)...	-	Apr 27, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 3591747 (NC_000001.11:16457707::T 11579/96500) Row 3591748 (NC_000001.11:16457707::TT 2918/96234) Row 3591749 (NC_000001.11:16457707::TTT 348/96460)...	-	Apr 27, 2021 (155)
56	8.3KJPN Submission ignored due to conflicting rows: Row 638350 (NC_000001.10:16784202::T 775/16744) Row 638351 (NC_000001.10:16784202:T: 95/16744) Row 638352 (NC_000001.10:16784202::TT 58/16744)	-	Apr 27, 2021 (155)
57	8.3KJPN Submission ignored due to conflicting rows: Row 638350 (NC_000001.10:16784202::T 775/16744) Row 638351 (NC_000001.10:16784202:T: 95/16744) Row 638352 (NC_000001.10:16784202::TT 58/16744)	-	Apr 27, 2021 (155)
58	8.3KJPN Submission ignored due to conflicting rows: Row 638350 (NC_000001.10:16784202::T 775/16744) Row 638351 (NC_000001.10:16784202:T: 95/16744) Row 638352 (NC_000001.10:16784202::TT 58/16744)	-	Apr 27, 2021 (155)
59	14KJPN Submission ignored due to conflicting rows: Row 874438 (NC_000001.11:16457707:T: 182/28254) Row 874439 (NC_000001.11:16457707::T 1426/28254) Row 874441 (NC_000001.11:16457707::TT 97/28254)...	-	Oct 12, 2022 (156)
60	14KJPN Submission ignored due to conflicting rows: Row 874438 (NC_000001.11:16457707:T: 182/28254) Row 874439 (NC_000001.11:16457707::T 1426/28254) Row 874441 (NC_000001.11:16457707::TT 97/28254)...	-	Oct 12, 2022 (156)
61	14KJPN Submission ignored due to conflicting rows: Row 874438 (NC_000001.11:16457707:T: 182/28254) Row 874439 (NC_000001.11:16457707::T 1426/28254) Row 874441 (NC_000001.11:16457707::TT 97/28254)...	-	Oct 12, 2022 (156)
62	14KJPN Submission ignored due to conflicting rows: Row 874438 (NC_000001.11:16457707:T: 182/28254) Row 874439 (NC_000001.11:16457707::T 1426/28254) Row 874441 (NC_000001.11:16457707::TT 97/28254)...	-	Oct 12, 2022 (156)
63	TopMed Submission ignored due to conflicting rows: Row 4080828 (NC_000001.11:16457707:TTTTTTTTTT: 6/264690) Row 4080829 (NC_000001.11:16457707:TTTTTTTTTTT: 2/264690) Row 4080830 (NC_000001.11:16457707:TTTTTTTTTTTTTT: 2/264690)	-	Apr 27, 2021 (155)
64	TopMed Submission ignored due to conflicting rows: Row 4080828 (NC_000001.11:16457707:TTTTTTTTTT: 6/264690) Row 4080829 (NC_000001.11:16457707:TTTTTTTTTTT: 2/264690) Row 4080830 (NC_000001.11:16457707:TTTTTTTTTTTTTT: 2/264690)	-	Apr 27, 2021 (155)
65	TopMed Submission ignored due to conflicting rows: Row 4080828 (NC_000001.11:16457707:TTTTTTTTTT: 6/264690) Row 4080829 (NC_000001.11:16457707:TTTTTTTTTTT: 2/264690) Row 4080830 (NC_000001.11:16457707:TTTTTTTTTTTTTT: 2/264690)	-	Apr 27, 2021 (155)
66	ALFA	NC_000001.11 - 16457708	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
ss4440474495	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTT:	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT	(self)
1699721517	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT	(self)
ss4440474494	NC_000001.11:16457707:TTTTTTTTTTT:	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
1699721517	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss3988989163, ss4440474493	NC_000001.11:16457707:TTTTTTTTTT:	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
1699721517	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
1699721517	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
1699721517	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3988989162	NC_000001.11:16457707:TTTTT:	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss2986370144	NC_000001.10:16784202:TTTT:	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
1699721517	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3988989161	NC_000001.11:16457707:TTT:	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
1699721517	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3988989160, ss5442500677	NC_000001.11:16457707:TT:	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
1699721517	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss80071661	NC_000001.8:16529529:T:	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss5142669044	NC_000001.10:16784202:T:	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss5442500674, ss5667037334	NC_000001.11:16457707:T:	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
1699721517	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss3789007731, ss3793880465, ss3826042874, ss5142669043	NC_000001.10:16784202::T	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3988989147, ss5442500675, ss5667037335	NC_000001.11:16457707::T	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
1699721517	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5142669045	NC_000001.10:16784202::TT	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3988989148, ss5241323506, ss5442500676, ss5667037337	NC_000001.11:16457707::TT	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
1699721517	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3988989149, ss5667037338	NC_000001.11:16457707::TTT	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
1699721517	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3988989150	NC_000001.11:16457707::TTTT	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
1699721517	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3988989151	NC_000001.11:16457707::TTTTT	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3988989152	NC_000001.11:16457707::TTTTTT	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3988989153	NC_000001.11:16457707::TTTTTTT	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3988989154	NC_000001.11:16457707::TTTTTTTT	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
1699721517	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3988989155	NC_000001.11:16457707::TTTTTTTTT	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3988989156	NC_000001.11:16457707::TTTTTTTTTT	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3988989157	NC_000001.11:16457707::TTTTTTTTTTT… NC_000001.11:16457707::TTTTTTTTTTTTTTTTTT	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
1699721517	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3988989158	NC_000001.11:16457707::TTTTTTTTTTT… NC_000001.11:16457707::TTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3988989159	NC_000001.11:16457707::TTTTTTTTTTT… NC_000001.11:16457707::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3069607911	NC_000001.11:16457707:TTTT:	NC_000001.11:16457707:TTTTTTTTTTTT… NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

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

No publications for rs56863489

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

rs56863489