Name: rs782046147
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.

rs782046147

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chrX:135351659-135351685 (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)₁₃ / del(A)₁₂ / d…
del(A)₁₈ / del(A)₁₃ / del(A)₁₂ / del(A)₁₁ / del(A)₁₀ / del(A)₉ / del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₆ / dup(A)₇ / dup(A)₂₀ / dup(A)₂₁ / dup(A)₂₂ / dup(A)₂₇ / ins(A)₂₉ / ins(A)₃₆
Variation Type: Indel Insertion and Deletion
Frequency: delAA=0.1341 (1095/8168, ALFA)
(A)₂₇=0.2279 (845/3708, TWINSUK)
(A)₂₇=0.2146 (620/2889, ALSPAC) (+ 1 more)
delAA=0.39 (15/38, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ZNF449 : 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	8168	AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.8587	AAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0037, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0017, AAAAAAAAAAAAAAAAAAAAAAAAA=0.1341, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0015, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0002, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0001, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	0.798067	0.066155	0.135778	32
European	Sub	6624	AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.8261	AAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0045, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0021, AAAAAAAAAAAAAAAAAAAAAAAAA=0.1650, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0018, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0003, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0002, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	0.750613	0.081495	0.167892	32
African	Sub	1054	AAAAAAAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	46	AAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	1008	AAAAAAAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	52	AAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	48	AAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	4	AAAAAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	36	AAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	192	AAAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	46	AAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	164	AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.988	AAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.012, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	0.987805	0.012195	0.0	32

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

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	8168	(A)₂₇=0.8587	del(A)₁₈=0.0000, del(A)₁₃=0.0000, del(A)₁₂=0.0000, del(A)₁₁=0.0000, del(A)₁₀=0.0037, del(A)₉=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0017, delAA=0.1341, delA=0.0015, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, ins(A)₂₉=0.0001, ins(A)₃₆=0.0002
Allele Frequency Aggregator	European	Sub	6624	(A)₂₇=0.8261	del(A)₁₈=0.0000, del(A)₁₃=0.0000, del(A)₁₂=0.0000, del(A)₁₁=0.0000, del(A)₁₀=0.0045, del(A)₉=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0021, delAA=0.1650, delA=0.0018, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, ins(A)₂₉=0.0002, ins(A)₃₆=0.0003
Allele Frequency Aggregator	African	Sub	1054	(A)₂₇=1.0000	del(A)₁₈=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)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, ins(A)₂₉=0.0000, ins(A)₃₆=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	192	(A)₂₇=1.000	del(A)₁₈=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)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, ins(A)₂₉=0.000, ins(A)₃₆=0.000
Allele Frequency Aggregator	Other	Sub	164	(A)₂₇=0.988	del(A)₁₈=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)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.012, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, ins(A)₂₉=0.000, ins(A)₃₆=0.000
Allele Frequency Aggregator	Asian	Sub	52	(A)₂₇=1.00	del(A)₁₈=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)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, ins(A)₂₉=0.00, ins(A)₃₆=0.00
Allele Frequency Aggregator	South Asian	Sub	46	(A)₂₇=1.00	del(A)₁₈=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)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, ins(A)₂₉=0.00, ins(A)₃₆=0.00
Allele Frequency Aggregator	Latin American 1	Sub	36	(A)₂₇=1.00	del(A)₁₈=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)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, ins(A)₂₉=0.00, ins(A)₃₆=0.00
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	(A)₂₇=0.2279	delAAA=0.7721
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	2889	(A)₂₇=0.2146	delAAA=0.7854
The Danish reference pan genome	Danish	Study-wide	38	(A)₂₇=0.61	delAA=0.39

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 X	NC_000023.11:g.135351668_135351685del
GRCh38.p14 chr X	NC_000023.11:g.135351673_135351685del
GRCh38.p14 chr X	NC_000023.11:g.135351674_135351685del
GRCh38.p14 chr X	NC_000023.11:g.135351675_135351685del
GRCh38.p14 chr X	NC_000023.11:g.135351676_135351685del
GRCh38.p14 chr X	NC_000023.11:g.135351677_135351685del
GRCh38.p14 chr X	NC_000023.11:g.135351680_135351685del
GRCh38.p14 chr X	NC_000023.11:g.135351681_135351685del
GRCh38.p14 chr X	NC_000023.11:g.135351682_135351685del
GRCh38.p14 chr X	NC_000023.11:g.135351683_135351685del
GRCh38.p14 chr X	NC_000023.11:g.135351684_135351685del
GRCh38.p14 chr X	NC_000023.11:g.135351685del
GRCh38.p14 chr X	NC_000023.11:g.135351685dup
GRCh38.p14 chr X	NC_000023.11:g.135351684_135351685dup
GRCh38.p14 chr X	NC_000023.11:g.135351683_135351685dup
GRCh38.p14 chr X	NC_000023.11:g.135351682_135351685dup
GRCh38.p14 chr X	NC_000023.11:g.135351681_135351685dup
GRCh38.p14 chr X	NC_000023.11:g.135351680_135351685dup
GRCh38.p14 chr X	NC_000023.11:g.135351679_135351685dup
GRCh38.p14 chr X	NC_000023.11:g.135351666_135351685dup
GRCh38.p14 chr X	NC_000023.11:g.135351665_135351685dup
GRCh38.p14 chr X	NC_000023.11:g.135351664_135351685dup
GRCh38.p14 chr X	NC_000023.11:g.135351659_135351685dup
GRCh38.p14 chr X	NC_000023.11:g.135351685_135351686insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr X	NC_000023.11:g.135351685_135351686insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr X	NC_000023.10:g.134485593_134485610del
GRCh37.p13 chr X	NC_000023.10:g.134485598_134485610del
GRCh37.p13 chr X	NC_000023.10:g.134485599_134485610del
GRCh37.p13 chr X	NC_000023.10:g.134485600_134485610del
GRCh37.p13 chr X	NC_000023.10:g.134485601_134485610del
GRCh37.p13 chr X	NC_000023.10:g.134485602_134485610del
GRCh37.p13 chr X	NC_000023.10:g.134485605_134485610del
GRCh37.p13 chr X	NC_000023.10:g.134485606_134485610del
GRCh37.p13 chr X	NC_000023.10:g.134485607_134485610del
GRCh37.p13 chr X	NC_000023.10:g.134485608_134485610del
GRCh37.p13 chr X	NC_000023.10:g.134485609_134485610del
GRCh37.p13 chr X	NC_000023.10:g.134485610del
GRCh37.p13 chr X	NC_000023.10:g.134485610dup
GRCh37.p13 chr X	NC_000023.10:g.134485609_134485610dup
GRCh37.p13 chr X	NC_000023.10:g.134485608_134485610dup
GRCh37.p13 chr X	NC_000023.10:g.134485607_134485610dup
GRCh37.p13 chr X	NC_000023.10:g.134485606_134485610dup
GRCh37.p13 chr X	NC_000023.10:g.134485605_134485610dup
GRCh37.p13 chr X	NC_000023.10:g.134485604_134485610dup
GRCh37.p13 chr X	NC_000023.10:g.134485591_134485610dup
GRCh37.p13 chr X	NC_000023.10:g.134485590_134485610dup
GRCh37.p13 chr X	NC_000023.10:g.134485589_134485610dup
GRCh37.p13 chr X	NC_000023.10:g.134485584_134485610dup
GRCh37.p13 chr X	NC_000023.10:g.134485610_134485611insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr X	NC_000023.10:g.134485610_134485611insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
ZNF449 RefSeqGene	NG_021220.1:g.11898_11915del
ZNF449 RefSeqGene	NG_021220.1:g.11903_11915del
ZNF449 RefSeqGene	NG_021220.1:g.11904_11915del
ZNF449 RefSeqGene	NG_021220.1:g.11905_11915del
ZNF449 RefSeqGene	NG_021220.1:g.11906_11915del
ZNF449 RefSeqGene	NG_021220.1:g.11907_11915del
ZNF449 RefSeqGene	NG_021220.1:g.11910_11915del
ZNF449 RefSeqGene	NG_021220.1:g.11911_11915del
ZNF449 RefSeqGene	NG_021220.1:g.11912_11915del
ZNF449 RefSeqGene	NG_021220.1:g.11913_11915del
ZNF449 RefSeqGene	NG_021220.1:g.11914_11915del
ZNF449 RefSeqGene	NG_021220.1:g.11915del
ZNF449 RefSeqGene	NG_021220.1:g.11915dup
ZNF449 RefSeqGene	NG_021220.1:g.11914_11915dup
ZNF449 RefSeqGene	NG_021220.1:g.11913_11915dup
ZNF449 RefSeqGene	NG_021220.1:g.11912_11915dup
ZNF449 RefSeqGene	NG_021220.1:g.11911_11915dup
ZNF449 RefSeqGene	NG_021220.1:g.11910_11915dup
ZNF449 RefSeqGene	NG_021220.1:g.11909_11915dup
ZNF449 RefSeqGene	NG_021220.1:g.11896_11915dup
ZNF449 RefSeqGene	NG_021220.1:g.11895_11915dup
ZNF449 RefSeqGene	NG_021220.1:g.11894_11915dup
ZNF449 RefSeqGene	NG_021220.1:g.11889_11915dup
ZNF449 RefSeqGene	NG_021220.1:g.11915_11916insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
ZNF449 RefSeqGene	NG_021220.1:g.11915_11916insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr X fix patch HG1443_HG1444_PATCH	NW_004070887.1:g.282811_282828del
GRCh37.p13 chr X fix patch HG1443_HG1444_PATCH	NW_004070887.1:g.282816_282828del
GRCh37.p13 chr X fix patch HG1443_HG1444_PATCH	NW_004070887.1:g.282817_282828del
GRCh37.p13 chr X fix patch HG1443_HG1444_PATCH	NW_004070887.1:g.282818_282828del
GRCh37.p13 chr X fix patch HG1443_HG1444_PATCH	NW_004070887.1:g.282819_282828del
GRCh37.p13 chr X fix patch HG1443_HG1444_PATCH	NW_004070887.1:g.282820_282828del
GRCh37.p13 chr X fix patch HG1443_HG1444_PATCH	NW_004070887.1:g.282823_282828del
GRCh37.p13 chr X fix patch HG1443_HG1444_PATCH	NW_004070887.1:g.282824_282828del
GRCh37.p13 chr X fix patch HG1443_HG1444_PATCH	NW_004070887.1:g.282825_282828del
GRCh37.p13 chr X fix patch HG1443_HG1444_PATCH	NW_004070887.1:g.282826_282828del
GRCh37.p13 chr X fix patch HG1443_HG1444_PATCH	NW_004070887.1:g.282827_282828del
GRCh37.p13 chr X fix patch HG1443_HG1444_PATCH	NW_004070887.1:g.282828del
GRCh37.p13 chr X fix patch HG1443_HG1444_PATCH	NW_004070887.1:g.282828dup
GRCh37.p13 chr X fix patch HG1443_HG1444_PATCH	NW_004070887.1:g.282827_282828dup
GRCh37.p13 chr X fix patch HG1443_HG1444_PATCH	NW_004070887.1:g.282826_282828dup
GRCh37.p13 chr X fix patch HG1443_HG1444_PATCH	NW_004070887.1:g.282825_282828dup
GRCh37.p13 chr X fix patch HG1443_HG1444_PATCH	NW_004070887.1:g.282824_282828dup
GRCh37.p13 chr X fix patch HG1443_HG1444_PATCH	NW_004070887.1:g.282823_282828dup
GRCh37.p13 chr X fix patch HG1443_HG1444_PATCH	NW_004070887.1:g.282822_282828dup
GRCh37.p13 chr X fix patch HG1443_HG1444_PATCH	NW_004070887.1:g.282809_282828dup
GRCh37.p13 chr X fix patch HG1443_HG1444_PATCH	NW_004070887.1:g.282808_282828dup
GRCh37.p13 chr X fix patch HG1443_HG1444_PATCH	NW_004070887.1:g.282807_282828dup
GRCh37.p13 chr X fix patch HG1443_HG1444_PATCH	NW_004070887.1:g.282802_282828dup
GRCh37.p13 chr X fix patch HG1443_HG1444_PATCH	NW_004070887.1:g.282828_282829insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr X fix patch HG1443_HG1444_PATCH	NW_004070887.1:g.282828_282829insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Gene: ZNF449, zinc finger protein 449 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ZNF449 transcript	NM_152695.6:c.559+2354_55… NM_152695.6:c.559+2354_559+2371del	N/A	Intron Variant
ZNF449 transcript variant X2	XM_017029351.2:c.214+2354… XM_017029351.2:c.214+2354_214+2371del	N/A	Intron Variant
ZNF449 transcript variant X1	XM_047441914.1:c.559+2354… XM_047441914.1:c.559+2354_559+2371del	N/A	Intron Variant
ZNF449 transcript variant X3	XM_047441915.1:c.214+2354… XM_047441915.1:c.214+2354_214+2371del	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)₂₇=	del(A)₁₈	del(A)₁₃	del(A)₁₂	del(A)₁₁	del(A)₁₀	del(A)₉	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₆	dup(A)₇	dup(A)₂₀	dup(A)₂₁	dup(A)₂₂	dup(A)₂₇	ins(A)₂₉	ins(A)₃₆
GRCh38.p14 chr X	NC_000023.11:g.135351659_135351685=	NC_000023.11:g.135351668_135351685del	NC_000023.11:g.135351673_135351685del	NC_000023.11:g.135351674_135351685del	NC_000023.11:g.135351675_135351685del	NC_000023.11:g.135351676_135351685del	NC_000023.11:g.135351677_135351685del	NC_000023.11:g.135351680_135351685del	NC_000023.11:g.135351681_135351685del	NC_000023.11:g.135351682_135351685del	NC_000023.11:g.135351683_135351685del	NC_000023.11:g.135351684_135351685del	NC_000023.11:g.135351685del	NC_000023.11:g.135351685dup	NC_000023.11:g.135351684_135351685dup	NC_000023.11:g.135351683_135351685dup	NC_000023.11:g.135351682_135351685dup	NC_000023.11:g.135351681_135351685dup	NC_000023.11:g.135351680_135351685dup	NC_000023.11:g.135351679_135351685dup	NC_000023.11:g.135351666_135351685dup	NC_000023.11:g.135351665_135351685dup	NC_000023.11:g.135351664_135351685dup	NC_000023.11:g.135351659_135351685dup	NC_000023.11:g.135351685_135351686insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000023.11:g.135351685_135351686insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr X	NC_000023.10:g.134485584_134485610=	NC_000023.10:g.134485593_134485610del	NC_000023.10:g.134485598_134485610del	NC_000023.10:g.134485599_134485610del	NC_000023.10:g.134485600_134485610del	NC_000023.10:g.134485601_134485610del	NC_000023.10:g.134485602_134485610del	NC_000023.10:g.134485605_134485610del	NC_000023.10:g.134485606_134485610del	NC_000023.10:g.134485607_134485610del	NC_000023.10:g.134485608_134485610del	NC_000023.10:g.134485609_134485610del	NC_000023.10:g.134485610del	NC_000023.10:g.134485610dup	NC_000023.10:g.134485609_134485610dup	NC_000023.10:g.134485608_134485610dup	NC_000023.10:g.134485607_134485610dup	NC_000023.10:g.134485606_134485610dup	NC_000023.10:g.134485605_134485610dup	NC_000023.10:g.134485604_134485610dup	NC_000023.10:g.134485591_134485610dup	NC_000023.10:g.134485590_134485610dup	NC_000023.10:g.134485589_134485610dup	NC_000023.10:g.134485584_134485610dup	NC_000023.10:g.134485610_134485611insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000023.10:g.134485610_134485611insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
ZNF449 RefSeqGene	NG_021220.1:g.11889_11915=	NG_021220.1:g.11898_11915del	NG_021220.1:g.11903_11915del	NG_021220.1:g.11904_11915del	NG_021220.1:g.11905_11915del	NG_021220.1:g.11906_11915del	NG_021220.1:g.11907_11915del	NG_021220.1:g.11910_11915del	NG_021220.1:g.11911_11915del	NG_021220.1:g.11912_11915del	NG_021220.1:g.11913_11915del	NG_021220.1:g.11914_11915del	NG_021220.1:g.11915del	NG_021220.1:g.11915dup	NG_021220.1:g.11914_11915dup	NG_021220.1:g.11913_11915dup	NG_021220.1:g.11912_11915dup	NG_021220.1:g.11911_11915dup	NG_021220.1:g.11910_11915dup	NG_021220.1:g.11909_11915dup	NG_021220.1:g.11896_11915dup	NG_021220.1:g.11895_11915dup	NG_021220.1:g.11894_11915dup	NG_021220.1:g.11889_11915dup	NG_021220.1:g.11915_11916insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NG_021220.1:g.11915_11916insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr X fix patch HG1443_HG1444_PATCH	NW_004070887.1:g.282802_282828=	NW_004070887.1:g.282811_282828del	NW_004070887.1:g.282816_282828del	NW_004070887.1:g.282817_282828del	NW_004070887.1:g.282818_282828del	NW_004070887.1:g.282819_282828del	NW_004070887.1:g.282820_282828del	NW_004070887.1:g.282823_282828del	NW_004070887.1:g.282824_282828del	NW_004070887.1:g.282825_282828del	NW_004070887.1:g.282826_282828del	NW_004070887.1:g.282827_282828del	NW_004070887.1:g.282828del	NW_004070887.1:g.282828dup	NW_004070887.1:g.282827_282828dup	NW_004070887.1:g.282826_282828dup	NW_004070887.1:g.282825_282828dup	NW_004070887.1:g.282824_282828dup	NW_004070887.1:g.282823_282828dup	NW_004070887.1:g.282822_282828dup	NW_004070887.1:g.282809_282828dup	NW_004070887.1:g.282808_282828dup	NW_004070887.1:g.282807_282828dup	NW_004070887.1:g.282802_282828dup	NW_004070887.1:g.282828_282829insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NW_004070887.1:g.282828_282829insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
ZNF449 transcript	NM_152695.5:c.559+2345=	NM_152695.5:c.559+2354_559+2371del	NM_152695.5:c.559+2359_559+2371del	NM_152695.5:c.559+2360_559+2371del	NM_152695.5:c.559+2361_559+2371del	NM_152695.5:c.559+2362_559+2371del	NM_152695.5:c.559+2363_559+2371del	NM_152695.5:c.559+2366_559+2371del	NM_152695.5:c.559+2367_559+2371del	NM_152695.5:c.559+2368_559+2371del	NM_152695.5:c.559+2369_559+2371del	NM_152695.5:c.559+2370_559+2371del	NM_152695.5:c.559+2371del	NM_152695.5:c.559+2371dup	NM_152695.5:c.559+2370_559+2371dup	NM_152695.5:c.559+2369_559+2371dup	NM_152695.5:c.559+2368_559+2371dup	NM_152695.5:c.559+2367_559+2371dup	NM_152695.5:c.559+2366_559+2371dup	NM_152695.5:c.559+2365_559+2371dup	NM_152695.5:c.559+2352_559+2371dup	NM_152695.5:c.559+2351_559+2371dup	NM_152695.5:c.559+2350_559+2371dup	NM_152695.5:c.559+2345_559+2371dup	NM_152695.5:c.559+2371_559+2372insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NM_152695.5:c.559+2371_559+2372insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
ZNF449 transcript	NM_152695.6:c.559+2345=	NM_152695.6:c.559+2354_559+2371del	NM_152695.6:c.559+2359_559+2371del	NM_152695.6:c.559+2360_559+2371del	NM_152695.6:c.559+2361_559+2371del	NM_152695.6:c.559+2362_559+2371del	NM_152695.6:c.559+2363_559+2371del	NM_152695.6:c.559+2366_559+2371del	NM_152695.6:c.559+2367_559+2371del	NM_152695.6:c.559+2368_559+2371del	NM_152695.6:c.559+2369_559+2371del	NM_152695.6:c.559+2370_559+2371del	NM_152695.6:c.559+2371del	NM_152695.6:c.559+2371dup	NM_152695.6:c.559+2370_559+2371dup	NM_152695.6:c.559+2369_559+2371dup	NM_152695.6:c.559+2368_559+2371dup	NM_152695.6:c.559+2367_559+2371dup	NM_152695.6:c.559+2366_559+2371dup	NM_152695.6:c.559+2365_559+2371dup	NM_152695.6:c.559+2352_559+2371dup	NM_152695.6:c.559+2351_559+2371dup	NM_152695.6:c.559+2350_559+2371dup	NM_152695.6:c.559+2345_559+2371dup	NM_152695.6:c.559+2371_559+2372insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NM_152695.6:c.559+2371_559+2372insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
ZNF449 transcript variant X2	XM_017029351.2:c.214+2345=	XM_017029351.2:c.214+2354_214+2371del	XM_017029351.2:c.214+2359_214+2371del	XM_017029351.2:c.214+2360_214+2371del	XM_017029351.2:c.214+2361_214+2371del	XM_017029351.2:c.214+2362_214+2371del	XM_017029351.2:c.214+2363_214+2371del	XM_017029351.2:c.214+2366_214+2371del	XM_017029351.2:c.214+2367_214+2371del	XM_017029351.2:c.214+2368_214+2371del	XM_017029351.2:c.214+2369_214+2371del	XM_017029351.2:c.214+2370_214+2371del	XM_017029351.2:c.214+2371del	XM_017029351.2:c.214+2371dup	XM_017029351.2:c.214+2370_214+2371dup	XM_017029351.2:c.214+2369_214+2371dup	XM_017029351.2:c.214+2368_214+2371dup	XM_017029351.2:c.214+2367_214+2371dup	XM_017029351.2:c.214+2366_214+2371dup	XM_017029351.2:c.214+2365_214+2371dup	XM_017029351.2:c.214+2352_214+2371dup	XM_017029351.2:c.214+2351_214+2371dup	XM_017029351.2:c.214+2350_214+2371dup	XM_017029351.2:c.214+2345_214+2371dup	XM_017029351.2:c.214+2371_214+2372insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XM_017029351.2:c.214+2371_214+2372insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
ZNF449 transcript variant X1	XM_047441914.1:c.559+2345=	XM_047441914.1:c.559+2354_559+2371del	XM_047441914.1:c.559+2359_559+2371del	XM_047441914.1:c.559+2360_559+2371del	XM_047441914.1:c.559+2361_559+2371del	XM_047441914.1:c.559+2362_559+2371del	XM_047441914.1:c.559+2363_559+2371del	XM_047441914.1:c.559+2366_559+2371del	XM_047441914.1:c.559+2367_559+2371del	XM_047441914.1:c.559+2368_559+2371del	XM_047441914.1:c.559+2369_559+2371del	XM_047441914.1:c.559+2370_559+2371del	XM_047441914.1:c.559+2371del	XM_047441914.1:c.559+2371dup	XM_047441914.1:c.559+2370_559+2371dup	XM_047441914.1:c.559+2369_559+2371dup	XM_047441914.1:c.559+2368_559+2371dup	XM_047441914.1:c.559+2367_559+2371dup	XM_047441914.1:c.559+2366_559+2371dup	XM_047441914.1:c.559+2365_559+2371dup	XM_047441914.1:c.559+2352_559+2371dup	XM_047441914.1:c.559+2351_559+2371dup	XM_047441914.1:c.559+2350_559+2371dup	XM_047441914.1:c.559+2345_559+2371dup	XM_047441914.1:c.559+2371_559+2372insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XM_047441914.1:c.559+2371_559+2372insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
ZNF449 transcript variant X3	XM_047441915.1:c.214+2345=	XM_047441915.1:c.214+2354_214+2371del	XM_047441915.1:c.214+2359_214+2371del	XM_047441915.1:c.214+2360_214+2371del	XM_047441915.1:c.214+2361_214+2371del	XM_047441915.1:c.214+2362_214+2371del	XM_047441915.1:c.214+2363_214+2371del	XM_047441915.1:c.214+2366_214+2371del	XM_047441915.1:c.214+2367_214+2371del	XM_047441915.1:c.214+2368_214+2371del	XM_047441915.1:c.214+2369_214+2371del	XM_047441915.1:c.214+2370_214+2371del	XM_047441915.1:c.214+2371del	XM_047441915.1:c.214+2371dup	XM_047441915.1:c.214+2370_214+2371dup	XM_047441915.1:c.214+2369_214+2371dup	XM_047441915.1:c.214+2368_214+2371dup	XM_047441915.1:c.214+2367_214+2371dup	XM_047441915.1:c.214+2366_214+2371dup	XM_047441915.1:c.214+2365_214+2371dup	XM_047441915.1:c.214+2352_214+2371dup	XM_047441915.1:c.214+2351_214+2371dup	XM_047441915.1:c.214+2350_214+2371dup	XM_047441915.1:c.214+2345_214+2371dup	XM_047441915.1:c.214+2371_214+2372insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XM_047441915.1:c.214+2371_214+2372insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

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#.

53 SubSNP, 36 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	EVA_GENOME_DK	ss1577645330	Apr 09, 2015 (144)
2	EVA_UK10K_ALSPAC	ss1709868151	Apr 09, 2015 (144)
3	EVA_UK10K_TWINSUK	ss1709868208	Apr 09, 2015 (144)
4	SYSTEMSBIOZJU	ss2629779306	Oct 12, 2018 (152)
5	SWEGEN	ss3020663816	Oct 12, 2018 (152)
6	PACBIO	ss3793824600	Jul 14, 2019 (153)
7	PACBIO	ss3793824601	Jul 14, 2019 (153)
8	PACBIO	ss3793824602	Jul 14, 2019 (153)
9	PACBIO	ss3798709532	Jul 14, 2019 (153)
10	EVA	ss3836325726	Apr 27, 2020 (154)
11	GNOMAD	ss4379092677	Apr 27, 2021 (155)
12	GNOMAD	ss4379092678	Apr 27, 2021 (155)
13	GNOMAD	ss4379092679	Apr 27, 2021 (155)
14	GNOMAD	ss4379092680	Apr 27, 2021 (155)
15	GNOMAD	ss4379092681	Apr 27, 2021 (155)
16	GNOMAD	ss4379092682	Apr 27, 2021 (155)
17	GNOMAD	ss4379092683	Apr 27, 2021 (155)
18	GNOMAD	ss4379092684	Apr 27, 2021 (155)
19	GNOMAD	ss4379092685	Apr 27, 2021 (155)
20	GNOMAD	ss4379092686	Apr 27, 2021 (155)
21	GNOMAD	ss4379092687	Apr 27, 2021 (155)
22	GNOMAD	ss4379092688	Apr 27, 2021 (155)
23	GNOMAD	ss4379092689	Apr 27, 2021 (155)
24	GNOMAD	ss4379092690	Apr 27, 2021 (155)
25	GNOMAD	ss4379092691	Apr 27, 2021 (155)
26	GNOMAD	ss4379092692	Apr 27, 2021 (155)
27	GNOMAD	ss4379092693	Apr 27, 2021 (155)
28	GNOMAD	ss4379092694	Apr 27, 2021 (155)
29	GNOMAD	ss4379092695	Apr 27, 2021 (155)
30	GNOMAD	ss4379092696	Apr 27, 2021 (155)
31	TOMMO_GENOMICS	ss5236385135	Apr 27, 2021 (155)
32	TOMMO_GENOMICS	ss5236385136	Apr 27, 2021 (155)
33	TOMMO_GENOMICS	ss5236385137	Apr 27, 2021 (155)
34	TOMMO_GENOMICS	ss5236385138	Apr 27, 2021 (155)
35	TOMMO_GENOMICS	ss5236385139	Apr 27, 2021 (155)
36	TOMMO_GENOMICS	ss5236385140	Apr 27, 2021 (155)
37	1000G_HIGH_COVERAGE	ss5314020021	Oct 17, 2022 (156)
38	1000G_HIGH_COVERAGE	ss5314020022	Oct 17, 2022 (156)
39	1000G_HIGH_COVERAGE	ss5314020023	Oct 17, 2022 (156)
40	1000G_HIGH_COVERAGE	ss5314020024	Oct 17, 2022 (156)
41	1000G_HIGH_COVERAGE	ss5314020025	Oct 17, 2022 (156)
42	HUGCELL_USP	ss5505415190	Oct 17, 2022 (156)
43	HUGCELL_USP	ss5505415191	Oct 17, 2022 (156)
44	HUGCELL_USP	ss5505415192	Oct 17, 2022 (156)
45	HUGCELL_USP	ss5505415193	Oct 17, 2022 (156)
46	HUGCELL_USP	ss5505415194	Oct 17, 2022 (156)
47	TOMMO_GENOMICS	ss5798794189	Oct 17, 2022 (156)
48	TOMMO_GENOMICS	ss5798794190	Oct 17, 2022 (156)
49	TOMMO_GENOMICS	ss5798794191	Oct 17, 2022 (156)
50	TOMMO_GENOMICS	ss5798794192	Oct 17, 2022 (156)
51	TOMMO_GENOMICS	ss5798794193	Oct 17, 2022 (156)
52	TOMMO_GENOMICS	ss5798794194	Oct 17, 2022 (156)
53	EVA	ss5979053634	Oct 17, 2022 (156)
54	The Avon Longitudinal Study of Parents and Children	NC_000023.10 - 134485584	Oct 12, 2018 (152)
55	The Danish reference pan genome	NC_000023.10 - 134485584	Apr 27, 2020 (154)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 592052096 (NC_000023.11:135351658::A 163/47399) Row 592052097 (NC_000023.11:135351658::AA 4/47420) Row 592052098 (NC_000023.11:135351658::AAA 6/47425)...	-	Apr 27, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 592052096 (NC_000023.11:135351658::A 163/47399) Row 592052097 (NC_000023.11:135351658::AA 4/47420) Row 592052098 (NC_000023.11:135351658::AAA 6/47425)...	-	Apr 27, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 592052096 (NC_000023.11:135351658::A 163/47399) Row 592052097 (NC_000023.11:135351658::AA 4/47420) Row 592052098 (NC_000023.11:135351658::AAA 6/47425)...	-	Apr 27, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 592052096 (NC_000023.11:135351658::A 163/47399) Row 592052097 (NC_000023.11:135351658::AA 4/47420) Row 592052098 (NC_000023.11:135351658::AAA 6/47425)...	-	Apr 27, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 592052096 (NC_000023.11:135351658::A 163/47399) Row 592052097 (NC_000023.11:135351658::AA 4/47420) Row 592052098 (NC_000023.11:135351658::AAA 6/47425)...	-	Apr 27, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 592052096 (NC_000023.11:135351658::A 163/47399) Row 592052097 (NC_000023.11:135351658::AA 4/47420) Row 592052098 (NC_000023.11:135351658::AAA 6/47425)...	-	Apr 27, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 592052096 (NC_000023.11:135351658::A 163/47399) Row 592052097 (NC_000023.11:135351658::AA 4/47420) Row 592052098 (NC_000023.11:135351658::AAA 6/47425)...	-	Apr 27, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 592052096 (NC_000023.11:135351658::A 163/47399) Row 592052097 (NC_000023.11:135351658::AA 4/47420) Row 592052098 (NC_000023.11:135351658::AAA 6/47425)...	-	Apr 27, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 592052096 (NC_000023.11:135351658::A 163/47399) Row 592052097 (NC_000023.11:135351658::AA 4/47420) Row 592052098 (NC_000023.11:135351658::AAA 6/47425)...	-	Apr 27, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 592052096 (NC_000023.11:135351658::A 163/47399) Row 592052097 (NC_000023.11:135351658::AA 4/47420) Row 592052098 (NC_000023.11:135351658::AAA 6/47425)...	-	Apr 27, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 592052096 (NC_000023.11:135351658::A 163/47399) Row 592052097 (NC_000023.11:135351658::AA 4/47420) Row 592052098 (NC_000023.11:135351658::AAA 6/47425)...	-	Apr 27, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 592052096 (NC_000023.11:135351658::A 163/47399) Row 592052097 (NC_000023.11:135351658::AA 4/47420) Row 592052098 (NC_000023.11:135351658::AAA 6/47425)...	-	Apr 27, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 592052096 (NC_000023.11:135351658::A 163/47399) Row 592052097 (NC_000023.11:135351658::AA 4/47420) Row 592052098 (NC_000023.11:135351658::AAA 6/47425)...	-	Apr 27, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 592052096 (NC_000023.11:135351658::A 163/47399) Row 592052097 (NC_000023.11:135351658::AA 4/47420) Row 592052098 (NC_000023.11:135351658::AAA 6/47425)...	-	Apr 27, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 592052096 (NC_000023.11:135351658::A 163/47399) Row 592052097 (NC_000023.11:135351658::AA 4/47420) Row 592052098 (NC_000023.11:135351658::AAA 6/47425)...	-	Apr 27, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 592052096 (NC_000023.11:135351658::A 163/47399) Row 592052097 (NC_000023.11:135351658::AA 4/47420) Row 592052098 (NC_000023.11:135351658::AAA 6/47425)...	-	Apr 27, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 592052096 (NC_000023.11:135351658::A 163/47399) Row 592052097 (NC_000023.11:135351658::AA 4/47420) Row 592052098 (NC_000023.11:135351658::AAA 6/47425)...	-	Apr 27, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 592052096 (NC_000023.11:135351658::A 163/47399) Row 592052097 (NC_000023.11:135351658::AA 4/47420) Row 592052098 (NC_000023.11:135351658::AAA 6/47425)...	-	Apr 27, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 592052096 (NC_000023.11:135351658::A 163/47399) Row 592052097 (NC_000023.11:135351658::AA 4/47420) Row 592052098 (NC_000023.11:135351658::AAA 6/47425)...	-	Apr 27, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 592052096 (NC_000023.11:135351658::A 163/47399) Row 592052097 (NC_000023.11:135351658::AA 4/47420) Row 592052098 (NC_000023.11:135351658::AAA 6/47425)...	-	Apr 27, 2021 (155)
76	8.3KJPN Submission ignored due to conflicting rows: Row 94354442 (NC_000023.10:134485583:AAAAAAAAAA: 1245/12535) Row 94354443 (NC_000023.10:134485583:AA: 1756/12535) Row 94354444 (NC_000023.10:134485583::A 111/12535)...	-	Apr 27, 2021 (155)
77	8.3KJPN Submission ignored due to conflicting rows: Row 94354442 (NC_000023.10:134485583:AAAAAAAAAA: 1245/12535) Row 94354443 (NC_000023.10:134485583:AA: 1756/12535) Row 94354444 (NC_000023.10:134485583::A 111/12535)...	-	Apr 27, 2021 (155)
78	8.3KJPN Submission ignored due to conflicting rows: Row 94354442 (NC_000023.10:134485583:AAAAAAAAAA: 1245/12535) Row 94354443 (NC_000023.10:134485583:AA: 1756/12535) Row 94354444 (NC_000023.10:134485583::A 111/12535)...	-	Apr 27, 2021 (155)
79	8.3KJPN Submission ignored due to conflicting rows: Row 94354442 (NC_000023.10:134485583:AAAAAAAAAA: 1245/12535) Row 94354443 (NC_000023.10:134485583:AA: 1756/12535) Row 94354444 (NC_000023.10:134485583::A 111/12535)...	-	Apr 27, 2021 (155)
80	8.3KJPN Submission ignored due to conflicting rows: Row 94354442 (NC_000023.10:134485583:AAAAAAAAAA: 1245/12535) Row 94354443 (NC_000023.10:134485583:AA: 1756/12535) Row 94354444 (NC_000023.10:134485583::A 111/12535)...	-	Apr 27, 2021 (155)
81	8.3KJPN Submission ignored due to conflicting rows: Row 94354442 (NC_000023.10:134485583:AAAAAAAAAA: 1245/12535) Row 94354443 (NC_000023.10:134485583:AA: 1756/12535) Row 94354444 (NC_000023.10:134485583::A 111/12535)...	-	Apr 27, 2021 (155)
82	14KJPN Submission ignored due to conflicting rows: Row 132631293 (NC_000023.11:135351658:AA: 5273/21802) Row 132631294 (NC_000023.11:135351658:AAAAAAAAAA: 2367/21802) Row 132631295 (NC_000023.11:135351658::A 294/21802)...	-	Oct 17, 2022 (156)
83	14KJPN Submission ignored due to conflicting rows: Row 132631293 (NC_000023.11:135351658:AA: 5273/21802) Row 132631294 (NC_000023.11:135351658:AAAAAAAAAA: 2367/21802) Row 132631295 (NC_000023.11:135351658::A 294/21802)...	-	Oct 17, 2022 (156)
84	14KJPN Submission ignored due to conflicting rows: Row 132631293 (NC_000023.11:135351658:AA: 5273/21802) Row 132631294 (NC_000023.11:135351658:AAAAAAAAAA: 2367/21802) Row 132631295 (NC_000023.11:135351658::A 294/21802)...	-	Oct 17, 2022 (156)
85	14KJPN Submission ignored due to conflicting rows: Row 132631293 (NC_000023.11:135351658:AA: 5273/21802) Row 132631294 (NC_000023.11:135351658:AAAAAAAAAA: 2367/21802) Row 132631295 (NC_000023.11:135351658::A 294/21802)...	-	Oct 17, 2022 (156)
86	14KJPN Submission ignored due to conflicting rows: Row 132631293 (NC_000023.11:135351658:AA: 5273/21802) Row 132631294 (NC_000023.11:135351658:AAAAAAAAAA: 2367/21802) Row 132631295 (NC_000023.11:135351658::A 294/21802)...	-	Oct 17, 2022 (156)
87	14KJPN Submission ignored due to conflicting rows: Row 132631293 (NC_000023.11:135351658:AA: 5273/21802) Row 132631294 (NC_000023.11:135351658:AAAAAAAAAA: 2367/21802) Row 132631295 (NC_000023.11:135351658::A 294/21802)...	-	Oct 17, 2022 (156)
88	UK 10K study - Twins	NC_000023.10 - 134485584	Oct 12, 2018 (152)
89	ALFA	NC_000023.11 - 135351659	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
ss4379092696	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAA:	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
7203549699	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
ss3020663816, ss5236385140	NC_000023.10:134485583:AAAAAAAAAAA… NC_000023.10:134485583:AAAAAAAAAAAAA:	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4379092695, ss5798794194	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAA:	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
7203549699	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
7203549699	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4379092694	NC_000023.11:135351658:AAAAAAAAAAA:	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
7203549699	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss2629779306, ss5236385135	NC_000023.10:134485583:AAAAAAAAAA:	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4379092693, ss5314020021, ss5505415194, ss5798794190	NC_000023.11:135351658:AAAAAAAAAA:	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
7203549699	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4379092692, ss5314020025	NC_000023.11:135351658:AAAAAAAAA:	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
7203549699	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4379092691	NC_000023.11:135351658:AAAAAA:	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
7203549699	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
7203549699	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4379092690	NC_000023.11:135351658:AAAA:	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
7203549699	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
46393080, 46393080, ss1709868151, ss1709868208, ss3793824600, ss5236385139, ss5979053634	NC_000023.10:134485583:AAA:	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4379092689, ss5314020023, ss5505415192, ss5798794193	NC_000023.11:135351658:AAA:	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
7203549699	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
1349108, ss1577645330, ss3793824601, ss3798709532, ss3836325726, ss5236385136	NC_000023.10:134485583:AA:	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5505415190, ss5798794189	NC_000023.11:135351658:AA:	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
7203549699	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3793824602, ss5236385138	NC_000023.10:134485583:A:	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4379092688, ss5314020022, ss5505415191, ss5798794192	NC_000023.11:135351658:A:	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
7203549699	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5236385137	NC_000023.10:134485583::A	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4379092677, ss5314020024, ss5505415193, ss5798794191	NC_000023.11:135351658::A	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
7203549699	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4379092678	NC_000023.11:135351658::AA	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
7203549699	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4379092679	NC_000023.11:135351658::AAA	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
7203549699	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4379092680	NC_000023.11:135351658::AAAA	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4379092681	NC_000023.11:135351658::AAAAA	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4379092682	NC_000023.11:135351658::AAAAAA	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4379092683	NC_000023.11:135351658::AAAAAAA	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4379092684	NC_000023.11:135351658::AAAAAAAAAA… NC_000023.11:135351658::AAAAAAAAAAAAAAAAAAAA	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4379092685	NC_000023.11:135351658::AAAAAAAAAA… NC_000023.11:135351658::AAAAAAAAAAAAAAAAAAAAA	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4379092686	NC_000023.11:135351658::AAAAAAAAAA… NC_000023.11:135351658::AAAAAAAAAAAAAAAAAAAAAA	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4379092687	NC_000023.11:135351658::AAAAAAAAAA… NC_000023.11:135351658::AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
7203549699	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
7203549699	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3622708223	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAA:	NC_000023.11:135351658:AAAAAAAAAAA… NC_000023.11:135351658:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

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

No publications for rs782046147

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

rs782046147