Name: rs56324449
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.

rs56324449

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:190517091-190517111 (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)₁₃ / del(A)₁₂ / del(A)₁₀ / d…
del(A)₁₃ / del(A)₁₂ / del(A)₁₀ / del(A)₉ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₆ / ins(A)₂₄
Variation Type: Indel Insertion and Deletion
Frequency: delAA=0.1306 (931/7127, ALFA)
delAA=0.23 (9/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: NEMP2 : 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	7127	AAAAAAAAAAAAAAAAAAAAA=0.7225	AAAAAAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.1306, AAAAAAAAAAAAAAAAAAAAAAAA=0.0111, AAAAAAAAAAAAAAAAAAAA=0.1282, AAAAAAAAAAAAAAAAAAAAAA=0.0029, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0046, AAAAAAAAAAAAAAAAAAAAAAA=0.0000	0.776488	0.041557	0.181954	32
European	Sub	5825	AAAAAAAAAAAAAAAAAAAAA=0.6613	AAAAAAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.1597, AAAAAAAAAAAAAAAAAAAAAAAA=0.0136, AAAAAAAAAAAAAAAAAAAA=0.1562, AAAAAAAAAAAAAAAAAAAAAA=0.0036, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0057, AAAAAAAAAAAAAAAAAAAAAAA=0.0000	0.70504	0.054842	0.240119	30
African	Sub	1038	AAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	46	AAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	992	AAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	34	AAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	30	AAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	4	AAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAA=0.0, AAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	34	AAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	42	AAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	24	AAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	130	AAAAAAAAAAAAAAAAAAAAA=0.962	AAAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.008, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.031, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=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	7127	(A)₂₁=0.7225	del(A)₁₃=0.0000, del(A)₁₂=0.0000, del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.1306, delA=0.1282, dupA=0.0029, dupAA=0.0000, dupAAA=0.0111, dup(A)₄=0.0046
Allele Frequency Aggregator	European	Sub	5825	(A)₂₁=0.6613	del(A)₁₃=0.0000, del(A)₁₂=0.0000, del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.1597, delA=0.1562, dupA=0.0036, dupAA=0.0000, dupAAA=0.0136, dup(A)₄=0.0057
Allele Frequency Aggregator	African	Sub	1038	(A)₂₁=1.0000	del(A)₁₃=0.0000, del(A)₁₂=0.0000, del(A)₁₀=0.0000, del(A)₉=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
Allele Frequency Aggregator	Other	Sub	130	(A)₂₁=0.962	del(A)₁₃=0.000, del(A)₁₂=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.008, delA=0.031, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000
Allele Frequency Aggregator	Latin American 2	Sub	42	(A)₂₁=1.00	del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₀=0.00, del(A)₉=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
Allele Frequency Aggregator	Latin American 1	Sub	34	(A)₂₁=1.00	del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₀=0.00, del(A)₉=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
Allele Frequency Aggregator	Asian	Sub	34	(A)₂₁=1.00	del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₀=0.00, del(A)₉=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
Allele Frequency Aggregator	South Asian	Sub	24	(A)₂₁=1.00	del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₀=0.00, del(A)₉=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
The Danish reference pan genome	Danish	Study-wide	40	(A)₂₁=0.78	delAA=0.23

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 2	NC_000002.12:g.190517099_190517111del
GRCh38.p14 chr 2	NC_000002.12:g.190517100_190517111del
GRCh38.p14 chr 2	NC_000002.12:g.190517102_190517111del
GRCh38.p14 chr 2	NC_000002.12:g.190517103_190517111del
GRCh38.p14 chr 2	NC_000002.12:g.190517107_190517111del
GRCh38.p14 chr 2	NC_000002.12:g.190517108_190517111del
GRCh38.p14 chr 2	NC_000002.12:g.190517109_190517111del
GRCh38.p14 chr 2	NC_000002.12:g.190517110_190517111del
GRCh38.p14 chr 2	NC_000002.12:g.190517111del
GRCh38.p14 chr 2	NC_000002.12:g.190517111dup
GRCh38.p14 chr 2	NC_000002.12:g.190517110_190517111dup
GRCh38.p14 chr 2	NC_000002.12:g.190517109_190517111dup
GRCh38.p14 chr 2	NC_000002.12:g.190517108_190517111dup
GRCh38.p14 chr 2	NC_000002.12:g.190517107_190517111dup
GRCh38.p14 chr 2	NC_000002.12:g.190517106_190517111dup
GRCh38.p14 chr 2	NC_000002.12:g.190517111_190517112insAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 2	NC_000002.11:g.191381825_191381837del
GRCh37.p13 chr 2	NC_000002.11:g.191381826_191381837del
GRCh37.p13 chr 2	NC_000002.11:g.191381828_191381837del
GRCh37.p13 chr 2	NC_000002.11:g.191381829_191381837del
GRCh37.p13 chr 2	NC_000002.11:g.191381833_191381837del
GRCh37.p13 chr 2	NC_000002.11:g.191381834_191381837del
GRCh37.p13 chr 2	NC_000002.11:g.191381835_191381837del
GRCh37.p13 chr 2	NC_000002.11:g.191381836_191381837del
GRCh37.p13 chr 2	NC_000002.11:g.191381837del
GRCh37.p13 chr 2	NC_000002.11:g.191381837dup
GRCh37.p13 chr 2	NC_000002.11:g.191381836_191381837dup
GRCh37.p13 chr 2	NC_000002.11:g.191381835_191381837dup
GRCh37.p13 chr 2	NC_000002.11:g.191381834_191381837dup
GRCh37.p13 chr 2	NC_000002.11:g.191381833_191381837dup
GRCh37.p13 chr 2	NC_000002.11:g.191381832_191381837dup
GRCh37.p13 chr 2	NC_000002.11:g.191381837_191381838insAAAAAAAAAAAAAAAAAAAAAAAA

Gene: NEMP2, nuclear envelope integral membrane protein 2 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NEMP2 transcript variant 1	NM_001142645.2:c.612+417_… NM_001142645.2:c.612+417_612+429del	N/A	Intron Variant
NEMP2 transcript variant 2	NR_136298.2:n.	N/A	Intron Variant
NEMP2 transcript variant X8	XM_005246212.4:c.405+417_… XM_005246212.4:c.405+417_405+429del	N/A	Intron Variant
NEMP2 transcript variant X7	XM_011510458.4:c.612+417_… XM_011510458.4:c.612+417_612+429del	N/A	Intron Variant
NEMP2 transcript variant X9	XM_011510459.4:c.405+417_… XM_011510459.4:c.405+417_405+429del	N/A	Intron Variant
NEMP2 transcript variant X1	XM_017003098.2:c.642+417_… XM_017003098.2:c.642+417_642+429del	N/A	Intron Variant
NEMP2 transcript variant X2	XM_017003099.1:c.642+417_… XM_017003099.1:c.642+417_642+429del	N/A	Intron Variant
NEMP2 transcript variant X3	XM_017003100.2:c.642+417_… XM_017003100.2:c.642+417_642+429del	N/A	Intron Variant
NEMP2 transcript variant X5	XM_047441941.1:c.612+417_… XM_047441941.1:c.612+417_612+429del	N/A	Intron Variant
NEMP2 transcript variant X6	XM_047441946.1:c.612+417_… XM_047441946.1:c.612+417_612+429del	N/A	Intron Variant
NEMP2 transcript variant X10	XM_047441958.1:c.405+417_… XM_047441958.1:c.405+417_405+429del	N/A	Intron Variant
NEMP2 transcript variant X11	XM_047441961.1:c.189+417_… XM_047441961.1:c.189+417_189+429del	N/A	Intron Variant
NEMP2 transcript variant X4	XR_007068185.1: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)₂₁=	del(A)₁₃	del(A)₁₂	del(A)₁₀	del(A)₉	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₆	ins(A)₂₄
GRCh38.p14 chr 2	NC_000002.12:g.190517091_190517111=	NC_000002.12:g.190517099_190517111del	NC_000002.12:g.190517100_190517111del	NC_000002.12:g.190517102_190517111del	NC_000002.12:g.190517103_190517111del	NC_000002.12:g.190517107_190517111del	NC_000002.12:g.190517108_190517111del	NC_000002.12:g.190517109_190517111del	NC_000002.12:g.190517110_190517111del	NC_000002.12:g.190517111del	NC_000002.12:g.190517111dup	NC_000002.12:g.190517110_190517111dup	NC_000002.12:g.190517109_190517111dup	NC_000002.12:g.190517108_190517111dup	NC_000002.12:g.190517107_190517111dup	NC_000002.12:g.190517106_190517111dup	NC_000002.12:g.190517111_190517112insAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 2	NC_000002.11:g.191381817_191381837=	NC_000002.11:g.191381825_191381837del	NC_000002.11:g.191381826_191381837del	NC_000002.11:g.191381828_191381837del	NC_000002.11:g.191381829_191381837del	NC_000002.11:g.191381833_191381837del	NC_000002.11:g.191381834_191381837del	NC_000002.11:g.191381835_191381837del	NC_000002.11:g.191381836_191381837del	NC_000002.11:g.191381837del	NC_000002.11:g.191381837dup	NC_000002.11:g.191381836_191381837dup	NC_000002.11:g.191381835_191381837dup	NC_000002.11:g.191381834_191381837dup	NC_000002.11:g.191381833_191381837dup	NC_000002.11:g.191381832_191381837dup	NC_000002.11:g.191381837_191381838insAAAAAAAAAAAAAAAAAAAAAAAA
NEMP2 transcript variant 1	NM_001142645.1:c.612+429=	NM_001142645.1:c.612+417_612+429del	NM_001142645.1:c.612+418_612+429del	NM_001142645.1:c.612+420_612+429del	NM_001142645.1:c.612+421_612+429del	NM_001142645.1:c.612+425_612+429del	NM_001142645.1:c.612+426_612+429del	NM_001142645.1:c.612+427_612+429del	NM_001142645.1:c.612+428_612+429del	NM_001142645.1:c.612+429del	NM_001142645.1:c.612+429dup	NM_001142645.1:c.612+428_612+429dup	NM_001142645.1:c.612+427_612+429dup	NM_001142645.1:c.612+426_612+429dup	NM_001142645.1:c.612+425_612+429dup	NM_001142645.1:c.612+424_612+429dup	NM_001142645.1:c.612+429_612+430insTTTTTTTTTTTTTTTTTTTTTTTT
NEMP2 transcript variant 1	NM_001142645.2:c.612+429=	NM_001142645.2:c.612+417_612+429del	NM_001142645.2:c.612+418_612+429del	NM_001142645.2:c.612+420_612+429del	NM_001142645.2:c.612+421_612+429del	NM_001142645.2:c.612+425_612+429del	NM_001142645.2:c.612+426_612+429del	NM_001142645.2:c.612+427_612+429del	NM_001142645.2:c.612+428_612+429del	NM_001142645.2:c.612+429del	NM_001142645.2:c.612+429dup	NM_001142645.2:c.612+428_612+429dup	NM_001142645.2:c.612+427_612+429dup	NM_001142645.2:c.612+426_612+429dup	NM_001142645.2:c.612+425_612+429dup	NM_001142645.2:c.612+424_612+429dup	NM_001142645.2:c.612+429_612+430insTTTTTTTTTTTTTTTTTTTTTTTT
TMEM194B transcript variant X1	XM_005246212.1:c.405+429=	XM_005246212.1:c.405+417_405+429del	XM_005246212.1:c.405+418_405+429del	XM_005246212.1:c.405+420_405+429del	XM_005246212.1:c.405+421_405+429del	XM_005246212.1:c.405+425_405+429del	XM_005246212.1:c.405+426_405+429del	XM_005246212.1:c.405+427_405+429del	XM_005246212.1:c.405+428_405+429del	XM_005246212.1:c.405+429del	XM_005246212.1:c.405+429dup	XM_005246212.1:c.405+428_405+429dup	XM_005246212.1:c.405+427_405+429dup	XM_005246212.1:c.405+426_405+429dup	XM_005246212.1:c.405+425_405+429dup	XM_005246212.1:c.405+424_405+429dup	XM_005246212.1:c.405+429_405+430insTTTTTTTTTTTTTTTTTTTTTTTT
NEMP2 transcript variant X8	XM_005246212.4:c.405+429=	XM_005246212.4:c.405+417_405+429del	XM_005246212.4:c.405+418_405+429del	XM_005246212.4:c.405+420_405+429del	XM_005246212.4:c.405+421_405+429del	XM_005246212.4:c.405+425_405+429del	XM_005246212.4:c.405+426_405+429del	XM_005246212.4:c.405+427_405+429del	XM_005246212.4:c.405+428_405+429del	XM_005246212.4:c.405+429del	XM_005246212.4:c.405+429dup	XM_005246212.4:c.405+428_405+429dup	XM_005246212.4:c.405+427_405+429dup	XM_005246212.4:c.405+426_405+429dup	XM_005246212.4:c.405+425_405+429dup	XM_005246212.4:c.405+424_405+429dup	XM_005246212.4:c.405+429_405+430insTTTTTTTTTTTTTTTTTTTTTTTT
TMEM194B transcript variant X2	XM_005246213.1:c.189+429=	XM_005246213.1:c.189+417_189+429del	XM_005246213.1:c.189+418_189+429del	XM_005246213.1:c.189+420_189+429del	XM_005246213.1:c.189+421_189+429del	XM_005246213.1:c.189+425_189+429del	XM_005246213.1:c.189+426_189+429del	XM_005246213.1:c.189+427_189+429del	XM_005246213.1:c.189+428_189+429del	XM_005246213.1:c.189+429del	XM_005246213.1:c.189+429dup	XM_005246213.1:c.189+428_189+429dup	XM_005246213.1:c.189+427_189+429dup	XM_005246213.1:c.189+426_189+429dup	XM_005246213.1:c.189+425_189+429dup	XM_005246213.1:c.189+424_189+429dup	XM_005246213.1:c.189+429_189+430insTTTTTTTTTTTTTTTTTTTTTTTT
NEMP2 transcript variant X7	XM_011510458.4:c.612+429=	XM_011510458.4:c.612+417_612+429del	XM_011510458.4:c.612+418_612+429del	XM_011510458.4:c.612+420_612+429del	XM_011510458.4:c.612+421_612+429del	XM_011510458.4:c.612+425_612+429del	XM_011510458.4:c.612+426_612+429del	XM_011510458.4:c.612+427_612+429del	XM_011510458.4:c.612+428_612+429del	XM_011510458.4:c.612+429del	XM_011510458.4:c.612+429dup	XM_011510458.4:c.612+428_612+429dup	XM_011510458.4:c.612+427_612+429dup	XM_011510458.4:c.612+426_612+429dup	XM_011510458.4:c.612+425_612+429dup	XM_011510458.4:c.612+424_612+429dup	XM_011510458.4:c.612+429_612+430insTTTTTTTTTTTTTTTTTTTTTTTT
NEMP2 transcript variant X9	XM_011510459.4:c.405+429=	XM_011510459.4:c.405+417_405+429del	XM_011510459.4:c.405+418_405+429del	XM_011510459.4:c.405+420_405+429del	XM_011510459.4:c.405+421_405+429del	XM_011510459.4:c.405+425_405+429del	XM_011510459.4:c.405+426_405+429del	XM_011510459.4:c.405+427_405+429del	XM_011510459.4:c.405+428_405+429del	XM_011510459.4:c.405+429del	XM_011510459.4:c.405+429dup	XM_011510459.4:c.405+428_405+429dup	XM_011510459.4:c.405+427_405+429dup	XM_011510459.4:c.405+426_405+429dup	XM_011510459.4:c.405+425_405+429dup	XM_011510459.4:c.405+424_405+429dup	XM_011510459.4:c.405+429_405+430insTTTTTTTTTTTTTTTTTTTTTTTT
NEMP2 transcript variant X1	XM_017003098.2:c.642+429=	XM_017003098.2:c.642+417_642+429del	XM_017003098.2:c.642+418_642+429del	XM_017003098.2:c.642+420_642+429del	XM_017003098.2:c.642+421_642+429del	XM_017003098.2:c.642+425_642+429del	XM_017003098.2:c.642+426_642+429del	XM_017003098.2:c.642+427_642+429del	XM_017003098.2:c.642+428_642+429del	XM_017003098.2:c.642+429del	XM_017003098.2:c.642+429dup	XM_017003098.2:c.642+428_642+429dup	XM_017003098.2:c.642+427_642+429dup	XM_017003098.2:c.642+426_642+429dup	XM_017003098.2:c.642+425_642+429dup	XM_017003098.2:c.642+424_642+429dup	XM_017003098.2:c.642+429_642+430insTTTTTTTTTTTTTTTTTTTTTTTT
NEMP2 transcript variant X2	XM_017003099.1:c.642+429=	XM_017003099.1:c.642+417_642+429del	XM_017003099.1:c.642+418_642+429del	XM_017003099.1:c.642+420_642+429del	XM_017003099.1:c.642+421_642+429del	XM_017003099.1:c.642+425_642+429del	XM_017003099.1:c.642+426_642+429del	XM_017003099.1:c.642+427_642+429del	XM_017003099.1:c.642+428_642+429del	XM_017003099.1:c.642+429del	XM_017003099.1:c.642+429dup	XM_017003099.1:c.642+428_642+429dup	XM_017003099.1:c.642+427_642+429dup	XM_017003099.1:c.642+426_642+429dup	XM_017003099.1:c.642+425_642+429dup	XM_017003099.1:c.642+424_642+429dup	XM_017003099.1:c.642+429_642+430insTTTTTTTTTTTTTTTTTTTTTTTT
NEMP2 transcript variant X3	XM_017003100.2:c.642+429=	XM_017003100.2:c.642+417_642+429del	XM_017003100.2:c.642+418_642+429del	XM_017003100.2:c.642+420_642+429del	XM_017003100.2:c.642+421_642+429del	XM_017003100.2:c.642+425_642+429del	XM_017003100.2:c.642+426_642+429del	XM_017003100.2:c.642+427_642+429del	XM_017003100.2:c.642+428_642+429del	XM_017003100.2:c.642+429del	XM_017003100.2:c.642+429dup	XM_017003100.2:c.642+428_642+429dup	XM_017003100.2:c.642+427_642+429dup	XM_017003100.2:c.642+426_642+429dup	XM_017003100.2:c.642+425_642+429dup	XM_017003100.2:c.642+424_642+429dup	XM_017003100.2:c.642+429_642+430insTTTTTTTTTTTTTTTTTTTTTTTT
NEMP2 transcript variant X5	XM_047441941.1:c.612+429=	XM_047441941.1:c.612+417_612+429del	XM_047441941.1:c.612+418_612+429del	XM_047441941.1:c.612+420_612+429del	XM_047441941.1:c.612+421_612+429del	XM_047441941.1:c.612+425_612+429del	XM_047441941.1:c.612+426_612+429del	XM_047441941.1:c.612+427_612+429del	XM_047441941.1:c.612+428_612+429del	XM_047441941.1:c.612+429del	XM_047441941.1:c.612+429dup	XM_047441941.1:c.612+428_612+429dup	XM_047441941.1:c.612+427_612+429dup	XM_047441941.1:c.612+426_612+429dup	XM_047441941.1:c.612+425_612+429dup	XM_047441941.1:c.612+424_612+429dup	XM_047441941.1:c.612+429_612+430insTTTTTTTTTTTTTTTTTTTTTTTT
NEMP2 transcript variant X6	XM_047441946.1:c.612+429=	XM_047441946.1:c.612+417_612+429del	XM_047441946.1:c.612+418_612+429del	XM_047441946.1:c.612+420_612+429del	XM_047441946.1:c.612+421_612+429del	XM_047441946.1:c.612+425_612+429del	XM_047441946.1:c.612+426_612+429del	XM_047441946.1:c.612+427_612+429del	XM_047441946.1:c.612+428_612+429del	XM_047441946.1:c.612+429del	XM_047441946.1:c.612+429dup	XM_047441946.1:c.612+428_612+429dup	XM_047441946.1:c.612+427_612+429dup	XM_047441946.1:c.612+426_612+429dup	XM_047441946.1:c.612+425_612+429dup	XM_047441946.1:c.612+424_612+429dup	XM_047441946.1:c.612+429_612+430insTTTTTTTTTTTTTTTTTTTTTTTT
NEMP2 transcript variant X10	XM_047441958.1:c.405+429=	XM_047441958.1:c.405+417_405+429del	XM_047441958.1:c.405+418_405+429del	XM_047441958.1:c.405+420_405+429del	XM_047441958.1:c.405+421_405+429del	XM_047441958.1:c.405+425_405+429del	XM_047441958.1:c.405+426_405+429del	XM_047441958.1:c.405+427_405+429del	XM_047441958.1:c.405+428_405+429del	XM_047441958.1:c.405+429del	XM_047441958.1:c.405+429dup	XM_047441958.1:c.405+428_405+429dup	XM_047441958.1:c.405+427_405+429dup	XM_047441958.1:c.405+426_405+429dup	XM_047441958.1:c.405+425_405+429dup	XM_047441958.1:c.405+424_405+429dup	XM_047441958.1:c.405+429_405+430insTTTTTTTTTTTTTTTTTTTTTTTT
NEMP2 transcript variant X11	XM_047441961.1:c.189+429=	XM_047441961.1:c.189+417_189+429del	XM_047441961.1:c.189+418_189+429del	XM_047441961.1:c.189+420_189+429del	XM_047441961.1:c.189+421_189+429del	XM_047441961.1:c.189+425_189+429del	XM_047441961.1:c.189+426_189+429del	XM_047441961.1:c.189+427_189+429del	XM_047441961.1:c.189+428_189+429del	XM_047441961.1:c.189+429del	XM_047441961.1:c.189+429dup	XM_047441961.1:c.189+428_189+429dup	XM_047441961.1:c.189+427_189+429dup	XM_047441961.1:c.189+426_189+429dup	XM_047441961.1:c.189+425_189+429dup	XM_047441961.1:c.189+424_189+429dup	XM_047441961.1:c.189+429_189+430insTTTTTTTTTTTTTTTTTTTTTTTT

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#.

56 SubSNP, 31 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss78015261	Aug 21, 2014 (142)
2	HGSV	ss79904802	Dec 16, 2007 (129)
3	HGSV	ss82173341	Dec 14, 2007 (130)
4	HUMANGENOME_JCVI	ss95296970	Feb 03, 2009 (130)
5	PJP	ss295019610	May 09, 2011 (142)
6	EVA_GENOME_DK	ss1575587913	Apr 01, 2015 (144)
7	EVA_UK10K_TWINSUK	ss1703334331	Apr 01, 2015 (144)
8	EVA_UK10K_ALSPAC	ss1703334335	Apr 01, 2015 (144)
9	EVA_UK10K_TWINSUK	ss1710044419	Apr 01, 2015 (144)
10	EVA_UK10K_ALSPAC	ss1710044424	Apr 01, 2015 (144)
11	MCHAISSO	ss3063971817	Nov 08, 2017 (151)
12	EVA_DECODE	ss3705677878	Jul 13, 2019 (153)
13	EVA_DECODE	ss3705677879	Jul 13, 2019 (153)
14	EVA_DECODE	ss3705677880	Jul 13, 2019 (153)
15	EVA_DECODE	ss3705677881	Jul 13, 2019 (153)
16	EVA_DECODE	ss3705677882	Jul 13, 2019 (153)
17	ACPOP	ss3729222349	Jul 13, 2019 (153)
18	ACPOP	ss3729222350	Jul 13, 2019 (153)
19	ACPOP	ss3729222351	Jul 13, 2019 (153)
20	ACPOP	ss3729222352	Jul 13, 2019 (153)
21	PACBIO	ss3784103088	Jul 13, 2019 (153)
22	PACBIO	ss3789649198	Jul 13, 2019 (153)
23	PACBIO	ss3794522329	Jul 13, 2019 (153)
24	EVA	ss3827419122	Apr 25, 2020 (154)
25	GNOMAD	ss4057908658	Apr 26, 2021 (155)
26	GNOMAD	ss4057908659	Apr 26, 2021 (155)
27	GNOMAD	ss4057908660	Apr 26, 2021 (155)
28	GNOMAD	ss4057908661	Apr 26, 2021 (155)
29	GNOMAD	ss4057908662	Apr 26, 2021 (155)
30	GNOMAD	ss4057908663	Apr 26, 2021 (155)
31	GNOMAD	ss4057908664	Apr 26, 2021 (155)
32	GNOMAD	ss4057908665	Apr 26, 2021 (155)
33	GNOMAD	ss4057908666	Apr 26, 2021 (155)
34	GNOMAD	ss4057908667	Apr 26, 2021 (155)
35	GNOMAD	ss4057908668	Apr 26, 2021 (155)
36	GNOMAD	ss4057908669	Apr 26, 2021 (155)
37	GNOMAD	ss4057908670	Apr 26, 2021 (155)
38	GNOMAD	ss4057908671	Apr 26, 2021 (155)
39	TOMMO_GENOMICS	ss5155697036	Apr 26, 2021 (155)
40	TOMMO_GENOMICS	ss5155697037	Apr 26, 2021 (155)
41	TOMMO_GENOMICS	ss5155697038	Apr 26, 2021 (155)
42	TOMMO_GENOMICS	ss5155697039	Apr 26, 2021 (155)
43	1000G_HIGH_COVERAGE	ss5251415865	Oct 13, 2022 (156)
44	1000G_HIGH_COVERAGE	ss5251415866	Oct 13, 2022 (156)
45	1000G_HIGH_COVERAGE	ss5251415868	Oct 13, 2022 (156)
46	1000G_HIGH_COVERAGE	ss5251415869	Oct 13, 2022 (156)
47	1000G_HIGH_COVERAGE	ss5251415870	Oct 13, 2022 (156)
48	HUGCELL_USP	ss5451093050	Oct 13, 2022 (156)
49	HUGCELL_USP	ss5451093051	Oct 13, 2022 (156)
50	HUGCELL_USP	ss5451093052	Oct 13, 2022 (156)
51	HUGCELL_USP	ss5451093054	Oct 13, 2022 (156)
52	TOMMO_GENOMICS	ss5686345336	Oct 13, 2022 (156)
53	TOMMO_GENOMICS	ss5686345337	Oct 13, 2022 (156)
54	TOMMO_GENOMICS	ss5686345338	Oct 13, 2022 (156)
55	EVA	ss5821354901	Oct 13, 2022 (156)
56	EVA	ss5821354902	Oct 13, 2022 (156)
57	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 6641802 (NC_000002.11:191381817:A: 2619/3854) Row 6641803 (NC_000002.11:191381816:AAA: 933/3854)	-	Oct 11, 2018 (152)
58	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 6641802 (NC_000002.11:191381817:A: 2619/3854) Row 6641803 (NC_000002.11:191381816:AAA: 933/3854)	-	Oct 11, 2018 (152)
59	The Danish reference pan genome	NC_000002.11 - 191381817	Apr 25, 2020 (154)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 85666796 (NC_000002.12:190517090::A 1352/81234) Row 85666797 (NC_000002.12:190517090::AA 192/81308) Row 85666798 (NC_000002.12:190517090::AAA 16/81358)...	-	Apr 26, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 85666796 (NC_000002.12:190517090::A 1352/81234) Row 85666797 (NC_000002.12:190517090::AA 192/81308) Row 85666798 (NC_000002.12:190517090::AAA 16/81358)...	-	Apr 26, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 85666796 (NC_000002.12:190517090::A 1352/81234) Row 85666797 (NC_000002.12:190517090::AA 192/81308) Row 85666798 (NC_000002.12:190517090::AAA 16/81358)...	-	Apr 26, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 85666796 (NC_000002.12:190517090::A 1352/81234) Row 85666797 (NC_000002.12:190517090::AA 192/81308) Row 85666798 (NC_000002.12:190517090::AAA 16/81358)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 85666796 (NC_000002.12:190517090::A 1352/81234) Row 85666797 (NC_000002.12:190517090::AA 192/81308) Row 85666798 (NC_000002.12:190517090::AAA 16/81358)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 85666796 (NC_000002.12:190517090::A 1352/81234) Row 85666797 (NC_000002.12:190517090::AA 192/81308) Row 85666798 (NC_000002.12:190517090::AAA 16/81358)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 85666796 (NC_000002.12:190517090::A 1352/81234) Row 85666797 (NC_000002.12:190517090::AA 192/81308) Row 85666798 (NC_000002.12:190517090::AAA 16/81358)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 85666796 (NC_000002.12:190517090::A 1352/81234) Row 85666797 (NC_000002.12:190517090::AA 192/81308) Row 85666798 (NC_000002.12:190517090::AAA 16/81358)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 85666796 (NC_000002.12:190517090::A 1352/81234) Row 85666797 (NC_000002.12:190517090::AA 192/81308) Row 85666798 (NC_000002.12:190517090::AAA 16/81358)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 85666796 (NC_000002.12:190517090::A 1352/81234) Row 85666797 (NC_000002.12:190517090::AA 192/81308) Row 85666798 (NC_000002.12:190517090::AAA 16/81358)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 85666796 (NC_000002.12:190517090::A 1352/81234) Row 85666797 (NC_000002.12:190517090::AA 192/81308) Row 85666798 (NC_000002.12:190517090::AAA 16/81358)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 85666796 (NC_000002.12:190517090::A 1352/81234) Row 85666797 (NC_000002.12:190517090::AA 192/81308) Row 85666798 (NC_000002.12:190517090::AAA 16/81358)...	-	Apr 26, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 85666796 (NC_000002.12:190517090::A 1352/81234) Row 85666797 (NC_000002.12:190517090::AA 192/81308) Row 85666798 (NC_000002.12:190517090::AAA 16/81358)...	-	Apr 26, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 85666796 (NC_000002.12:190517090::A 1352/81234) Row 85666797 (NC_000002.12:190517090::AA 192/81308) Row 85666798 (NC_000002.12:190517090::AAA 16/81358)...	-	Apr 26, 2021 (155)
74	Northern Sweden Submission ignored due to conflicting rows: Row 2507214 (NC_000002.11:191381816::AAAA 21/560) Row 2507215 (NC_000002.11:191381816:A: 75/560) Row 2507216 (NC_000002.11:191381816:AA: 49/560)...	-	Jul 13, 2019 (153)
75	Northern Sweden Submission ignored due to conflicting rows: Row 2507214 (NC_000002.11:191381816::AAAA 21/560) Row 2507215 (NC_000002.11:191381816:A: 75/560) Row 2507216 (NC_000002.11:191381816:AA: 49/560)...	-	Jul 13, 2019 (153)
76	Northern Sweden Submission ignored due to conflicting rows: Row 2507214 (NC_000002.11:191381816::AAAA 21/560) Row 2507215 (NC_000002.11:191381816:A: 75/560) Row 2507216 (NC_000002.11:191381816:AA: 49/560)...	-	Jul 13, 2019 (153)
77	Northern Sweden Submission ignored due to conflicting rows: Row 2507214 (NC_000002.11:191381816::AAAA 21/560) Row 2507215 (NC_000002.11:191381816:A: 75/560) Row 2507216 (NC_000002.11:191381816:AA: 49/560)...	-	Jul 13, 2019 (153)
78	8.3KJPN Submission ignored due to conflicting rows: Row 13666343 (NC_000002.11:191381816:A: 4486/16688) Row 13666344 (NC_000002.11:191381816:AA: 1332/16688) Row 13666345 (NC_000002.11:191381816::A 117/16688)...	-	Apr 26, 2021 (155)
79	8.3KJPN Submission ignored due to conflicting rows: Row 13666343 (NC_000002.11:191381816:A: 4486/16688) Row 13666344 (NC_000002.11:191381816:AA: 1332/16688) Row 13666345 (NC_000002.11:191381816::A 117/16688)...	-	Apr 26, 2021 (155)
80	8.3KJPN Submission ignored due to conflicting rows: Row 13666343 (NC_000002.11:191381816:A: 4486/16688) Row 13666344 (NC_000002.11:191381816:AA: 1332/16688) Row 13666345 (NC_000002.11:191381816::A 117/16688)...	-	Apr 26, 2021 (155)
81	8.3KJPN Submission ignored due to conflicting rows: Row 13666343 (NC_000002.11:191381816:A: 4486/16688) Row 13666344 (NC_000002.11:191381816:AA: 1332/16688) Row 13666345 (NC_000002.11:191381816::A 117/16688)...	-	Apr 26, 2021 (155)
82	14KJPN Submission ignored due to conflicting rows: Row 20182440 (NC_000002.12:190517090:A: 7784/27950) Row 20182441 (NC_000002.12:190517090:AA: 2424/27950) Row 20182442 (NC_000002.12:190517090::A 183/27950)	-	Oct 13, 2022 (156)
83	14KJPN Submission ignored due to conflicting rows: Row 20182440 (NC_000002.12:190517090:A: 7784/27950) Row 20182441 (NC_000002.12:190517090:AA: 2424/27950) Row 20182442 (NC_000002.12:190517090::A 183/27950)	-	Oct 13, 2022 (156)
84	14KJPN Submission ignored due to conflicting rows: Row 20182440 (NC_000002.12:190517090:A: 7784/27950) Row 20182441 (NC_000002.12:190517090:AA: 2424/27950) Row 20182442 (NC_000002.12:190517090::A 183/27950)	-	Oct 13, 2022 (156)
85	UK 10K study - Twins Submission ignored due to conflicting rows: Row 6641802 (NC_000002.11:191381817:A: 2478/3708) Row 6641803 (NC_000002.11:191381816:AAA: 892/3708)	-	Oct 11, 2018 (152)
86	UK 10K study - Twins Submission ignored due to conflicting rows: Row 6641802 (NC_000002.11:191381817:A: 2478/3708) Row 6641803 (NC_000002.11:191381816:AAA: 892/3708)	-	Oct 11, 2018 (152)
87	ALFA	NC_000002.12 - 190517091	Apr 26, 2021 (155)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs56856577	May 23, 2008 (130)
rs72355620	Aug 21, 2014 (142)
rs142716051	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4057908671	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAA:	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA	(self)
7520532902	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA	(self)
ss4057908670	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAA:	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
7520532902	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
ss4057908669, ss5251415870	NC_000002.12:190517090:AAAAAAAAAA:	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
7520532902	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
7520532902	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
7520532902	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3705677882, ss4057908668	NC_000002.12:190517090:AAAA:	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
7520532902	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss1703334331, ss1703334335, ss5821354902	NC_000002.11:191381816:AAA:	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4057908667, ss5451093052	NC_000002.12:190517090:AAA:	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
7520532902	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3705677881	NC_000002.12:190517091:AAA:	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss78015261	NC_000002.9:191207341:AA:	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
721697, ss1575587913, ss3729222351, ss3827419122, ss5155697037, ss5821354901	NC_000002.11:191381816:AA:	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss1710044419, ss1710044424	NC_000002.11:191381817:AA:	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4057908666, ss5251415865, ss5451093050, ss5686345337	NC_000002.12:190517090:AA:	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
7520532902	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3705677880	NC_000002.12:190517092:AA:	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss82173341	NC_000002.9:191207342:A:	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss295019610	NC_000002.10:191090081:A:	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3729222350, ss3784103088, ss3789649198, ss3794522329, ss5155697036	NC_000002.11:191381816:A:	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
	NC_000002.11:191381817:A:	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3063971817, ss4057908665, ss5251415866, ss5451093051, ss5686345336	NC_000002.12:190517090:A:	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
7520532902	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3705677879	NC_000002.12:190517093:A:	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss95296970	NT_005403.17:41591254:A:	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss5155697038	NC_000002.11:191381816::A	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4057908658, ss5251415868, ss5451093054, ss5686345338	NC_000002.12:190517090::A	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
7520532902	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3705677878	NC_000002.12:190517094::A	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss79904802	NT_005403.17:41591255::A	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4057908659, ss5251415869	NC_000002.12:190517090::AA	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
7520532902	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3729222352, ss5155697039	NC_000002.11:191381816::AAA	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4057908660	NC_000002.12:190517090::AAA	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
7520532902	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3729222349	NC_000002.11:191381816::AAAA	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4057908661	NC_000002.12:190517090::AAAA	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
7520532902	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4057908662	NC_000002.12:190517090::AAAAA	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4057908663	NC_000002.12:190517090::AAAAAA	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4057908664	NC_000002.12:190517090::AAAAAAAAAA… NC_000002.12:190517090::AAAAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:190517090:AAAAAAAAAAA… NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(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 rs56324449

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

rs56324449