Name: rs34069451
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.

rs34069451

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr20:50135659-50135682 (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)₁₄ / del(A)₁₃ / del(A)₁₂ / d…
del(A)₁₄ / del(A)₁₃ / del(A)₁₂ / del(A)₁₁ / del(A)₁₀ / del(A)₉ / del(A)₈ / del(A)₇ / del(A)₆ / del(A)₄ / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₆ / dup(A)₇ / dup(A)₈ / dup(A)₉ / dup(A)₁₀ / dup(A)₁₄
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₁₀=0.000034 (9/264690, TOPMED)
dupAAA=0.03736 (492/13170, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: PEDS1 : Intron Variant
PEDS1-UBE2V1 : 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	13170	AAAAAAAAAAAAAAAAAAAAAAAA=0.93690	AAAAAAAAAA=0.00000, AAAAAAAAAAA=0.00000, AAAAAAAAAAAA=0.00000, AAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.01276, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.03736, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00228, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00418, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00364, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00289	0.940111	0.015091	0.044797	32
European	Sub	11154	AAAAAAAAAAAAAAAAAAAAAAAA=0.92550	AAAAAAAAAA=0.00000, AAAAAAAAAAA=0.00000, AAAAAAAAAAAA=0.00000, AAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.01506, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.04411, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00269, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00493, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00430, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00341	0.928693	0.017969	0.053338	32
African	Sub	1218	AAAAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	44	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	1174	AAAAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	56	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	48	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	8	AAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	60	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	366	AAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	48	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	268	AAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=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
TopMed	Global	Study-wide	264690	(A)₂₄=0.999966	del(A)₁₀=0.000034
Allele Frequency Aggregator	Total	Global	13170	(A)₂₄=0.93690	del(A)₁₄=0.00000, del(A)₁₃=0.00000, del(A)₁₂=0.00000, del(A)₁₁=0.00000, del(A)₁₀=0.00000, del(A)₉=0.00000, del(A)₈=0.00000, del(A)₇=0.00000, del(A)₆=0.00000, del(A)₄=0.00000, delAA=0.00000, delA=0.00000, dupA=0.01276, dupAA=0.00418, dupAAA=0.03736, dup(A)₄=0.00228, dup(A)₅=0.00289, dup(A)₆=0.00364
Allele Frequency Aggregator	European	Sub	11154	(A)₂₄=0.92550	del(A)₁₄=0.00000, del(A)₁₃=0.00000, del(A)₁₂=0.00000, del(A)₁₁=0.00000, del(A)₁₀=0.00000, del(A)₉=0.00000, del(A)₈=0.00000, del(A)₇=0.00000, del(A)₆=0.00000, del(A)₄=0.00000, delAA=0.00000, delA=0.00000, dupA=0.01506, dupAA=0.00493, dupAAA=0.04411, dup(A)₄=0.00269, dup(A)₅=0.00341, dup(A)₆=0.00430
Allele Frequency Aggregator	African	Sub	1218	(A)₂₄=1.0000	del(A)₁₄=0.0000, del(A)₁₃=0.0000, del(A)₁₂=0.0000, del(A)₁₁=0.0000, del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₄=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₄=0.0000, dup(A)₅=0.0000, dup(A)₆=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	366	(A)₂₄=1.000	del(A)₁₄=0.000, del(A)₁₃=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₄=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000, dup(A)₆=0.000
Allele Frequency Aggregator	Other	Sub	268	(A)₂₄=1.000	del(A)₁₄=0.000, del(A)₁₃=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₄=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000, dup(A)₆=0.000
Allele Frequency Aggregator	Latin American 1	Sub	60	(A)₂₄=1.00	del(A)₁₄=0.00, del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₄=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00, dup(A)₆=0.00
Allele Frequency Aggregator	Asian	Sub	56	(A)₂₄=1.00	del(A)₁₄=0.00, del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₄=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00, dup(A)₆=0.00
Allele Frequency Aggregator	South Asian	Sub	48	(A)₂₄=1.00	del(A)₁₄=0.00, del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₄=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00, dup(A)₆=0.00

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 20	NC_000020.11:g.50135669_50135682del
GRCh38.p14 chr 20	NC_000020.11:g.50135670_50135682del
GRCh38.p14 chr 20	NC_000020.11:g.50135671_50135682del
GRCh38.p14 chr 20	NC_000020.11:g.50135672_50135682del
GRCh38.p14 chr 20	NC_000020.11:g.50135673_50135682del
GRCh38.p14 chr 20	NC_000020.11:g.50135674_50135682del
GRCh38.p14 chr 20	NC_000020.11:g.50135675_50135682del
GRCh38.p14 chr 20	NC_000020.11:g.50135676_50135682del
GRCh38.p14 chr 20	NC_000020.11:g.50135677_50135682del
GRCh38.p14 chr 20	NC_000020.11:g.50135679_50135682del
GRCh38.p14 chr 20	NC_000020.11:g.50135681_50135682del
GRCh38.p14 chr 20	NC_000020.11:g.50135682del
GRCh38.p14 chr 20	NC_000020.11:g.50135682dup
GRCh38.p14 chr 20	NC_000020.11:g.50135681_50135682dup
GRCh38.p14 chr 20	NC_000020.11:g.50135680_50135682dup
GRCh38.p14 chr 20	NC_000020.11:g.50135679_50135682dup
GRCh38.p14 chr 20	NC_000020.11:g.50135678_50135682dup
GRCh38.p14 chr 20	NC_000020.11:g.50135677_50135682dup
GRCh38.p14 chr 20	NC_000020.11:g.50135676_50135682dup
GRCh38.p14 chr 20	NC_000020.11:g.50135675_50135682dup
GRCh38.p14 chr 20	NC_000020.11:g.50135674_50135682dup
GRCh38.p14 chr 20	NC_000020.11:g.50135673_50135682dup
GRCh38.p14 chr 20	NC_000020.11:g.50135669_50135682dup
GRCh37.p13 chr 20	NC_000020.10:g.48752206_48752219del
GRCh37.p13 chr 20	NC_000020.10:g.48752207_48752219del
GRCh37.p13 chr 20	NC_000020.10:g.48752208_48752219del
GRCh37.p13 chr 20	NC_000020.10:g.48752209_48752219del
GRCh37.p13 chr 20	NC_000020.10:g.48752210_48752219del
GRCh37.p13 chr 20	NC_000020.10:g.48752211_48752219del
GRCh37.p13 chr 20	NC_000020.10:g.48752212_48752219del
GRCh37.p13 chr 20	NC_000020.10:g.48752213_48752219del
GRCh37.p13 chr 20	NC_000020.10:g.48752214_48752219del
GRCh37.p13 chr 20	NC_000020.10:g.48752216_48752219del
GRCh37.p13 chr 20	NC_000020.10:g.48752218_48752219del
GRCh37.p13 chr 20	NC_000020.10:g.48752219del
GRCh37.p13 chr 20	NC_000020.10:g.48752219dup
GRCh37.p13 chr 20	NC_000020.10:g.48752218_48752219dup
GRCh37.p13 chr 20	NC_000020.10:g.48752217_48752219dup
GRCh37.p13 chr 20	NC_000020.10:g.48752216_48752219dup
GRCh37.p13 chr 20	NC_000020.10:g.48752215_48752219dup
GRCh37.p13 chr 20	NC_000020.10:g.48752214_48752219dup
GRCh37.p13 chr 20	NC_000020.10:g.48752213_48752219dup
GRCh37.p13 chr 20	NC_000020.10:g.48752212_48752219dup
GRCh37.p13 chr 20	NC_000020.10:g.48752211_48752219dup
GRCh37.p13 chr 20	NC_000020.10:g.48752210_48752219dup
GRCh37.p13 chr 20	NC_000020.10:g.48752206_48752219dup

Gene: PEDS1, plasmanylethanolamine desaturase 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PEDS1 transcript variant 2	NM_001162505.2:c.242-4725… NM_001162505.2:c.242-4725_242-4712del	N/A	Intron Variant
PEDS1 transcript variant 1	NM_199129.4:c.242-4725_24… NM_199129.4:c.242-4725_242-4712del	N/A	Intron Variant
PEDS1 transcript variant 3	NR_027889.2:n.	N/A	Intron Variant

Gene: PEDS1-UBE2V1, PEDS1-UBE2V1 readthrough (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PEDS1-UBE2V1 transcript	NM_199203.3:c.242-4725_24… NM_199203.3:c.242-4725_242-4712del	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)₂₄=	del(A)₁₄	del(A)₁₃	del(A)₁₂	del(A)₁₁	del(A)₁₀	del(A)₉	del(A)₈	del(A)₇	del(A)₆	del(A)₄	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₆	dup(A)₇	dup(A)₈	dup(A)₉	dup(A)₁₀	dup(A)₁₄
GRCh38.p14 chr 20	NC_000020.11:g.50135659_50135682=	NC_000020.11:g.50135669_50135682del	NC_000020.11:g.50135670_50135682del	NC_000020.11:g.50135671_50135682del	NC_000020.11:g.50135672_50135682del	NC_000020.11:g.50135673_50135682del	NC_000020.11:g.50135674_50135682del	NC_000020.11:g.50135675_50135682del	NC_000020.11:g.50135676_50135682del	NC_000020.11:g.50135677_50135682del	NC_000020.11:g.50135679_50135682del	NC_000020.11:g.50135681_50135682del	NC_000020.11:g.50135682del	NC_000020.11:g.50135682dup	NC_000020.11:g.50135681_50135682dup	NC_000020.11:g.50135680_50135682dup	NC_000020.11:g.50135679_50135682dup	NC_000020.11:g.50135678_50135682dup	NC_000020.11:g.50135677_50135682dup	NC_000020.11:g.50135676_50135682dup	NC_000020.11:g.50135675_50135682dup	NC_000020.11:g.50135674_50135682dup	NC_000020.11:g.50135673_50135682dup	NC_000020.11:g.50135669_50135682dup
GRCh37.p13 chr 20	NC_000020.10:g.48752196_48752219=	NC_000020.10:g.48752206_48752219del	NC_000020.10:g.48752207_48752219del	NC_000020.10:g.48752208_48752219del	NC_000020.10:g.48752209_48752219del	NC_000020.10:g.48752210_48752219del	NC_000020.10:g.48752211_48752219del	NC_000020.10:g.48752212_48752219del	NC_000020.10:g.48752213_48752219del	NC_000020.10:g.48752214_48752219del	NC_000020.10:g.48752216_48752219del	NC_000020.10:g.48752218_48752219del	NC_000020.10:g.48752219del	NC_000020.10:g.48752219dup	NC_000020.10:g.48752218_48752219dup	NC_000020.10:g.48752217_48752219dup	NC_000020.10:g.48752216_48752219dup	NC_000020.10:g.48752215_48752219dup	NC_000020.10:g.48752214_48752219dup	NC_000020.10:g.48752213_48752219dup	NC_000020.10:g.48752212_48752219dup	NC_000020.10:g.48752211_48752219dup	NC_000020.10:g.48752210_48752219dup	NC_000020.10:g.48752206_48752219dup
TMEM189 transcript variant 2	NM_001162505.1:c.242-4712=	NM_001162505.1:c.242-4725_242-4712del	NM_001162505.1:c.242-4724_242-4712del	NM_001162505.1:c.242-4723_242-4712del	NM_001162505.1:c.242-4722_242-4712del	NM_001162505.1:c.242-4721_242-4712del	NM_001162505.1:c.242-4720_242-4712del	NM_001162505.1:c.242-4719_242-4712del	NM_001162505.1:c.242-4718_242-4712del	NM_001162505.1:c.242-4717_242-4712del	NM_001162505.1:c.242-4715_242-4712del	NM_001162505.1:c.242-4713_242-4712del	NM_001162505.1:c.242-4712del	NM_001162505.1:c.242-4712dup	NM_001162505.1:c.242-4713_242-4712dup	NM_001162505.1:c.242-4714_242-4712dup	NM_001162505.1:c.242-4715_242-4712dup	NM_001162505.1:c.242-4716_242-4712dup	NM_001162505.1:c.242-4717_242-4712dup	NM_001162505.1:c.242-4718_242-4712dup	NM_001162505.1:c.242-4719_242-4712dup	NM_001162505.1:c.242-4720_242-4712dup	NM_001162505.1:c.242-4721_242-4712dup	NM_001162505.1:c.242-4725_242-4712dup
PEDS1 transcript variant 2	NM_001162505.2:c.242-4712=	NM_001162505.2:c.242-4725_242-4712del	NM_001162505.2:c.242-4724_242-4712del	NM_001162505.2:c.242-4723_242-4712del	NM_001162505.2:c.242-4722_242-4712del	NM_001162505.2:c.242-4721_242-4712del	NM_001162505.2:c.242-4720_242-4712del	NM_001162505.2:c.242-4719_242-4712del	NM_001162505.2:c.242-4718_242-4712del	NM_001162505.2:c.242-4717_242-4712del	NM_001162505.2:c.242-4715_242-4712del	NM_001162505.2:c.242-4713_242-4712del	NM_001162505.2:c.242-4712del	NM_001162505.2:c.242-4712dup	NM_001162505.2:c.242-4713_242-4712dup	NM_001162505.2:c.242-4714_242-4712dup	NM_001162505.2:c.242-4715_242-4712dup	NM_001162505.2:c.242-4716_242-4712dup	NM_001162505.2:c.242-4717_242-4712dup	NM_001162505.2:c.242-4718_242-4712dup	NM_001162505.2:c.242-4719_242-4712dup	NM_001162505.2:c.242-4720_242-4712dup	NM_001162505.2:c.242-4721_242-4712dup	NM_001162505.2:c.242-4725_242-4712dup
TMEM189 transcript variant 1	NM_199129.2:c.242-4712=	NM_199129.2:c.242-4725_242-4712del	NM_199129.2:c.242-4724_242-4712del	NM_199129.2:c.242-4723_242-4712del	NM_199129.2:c.242-4722_242-4712del	NM_199129.2:c.242-4721_242-4712del	NM_199129.2:c.242-4720_242-4712del	NM_199129.2:c.242-4719_242-4712del	NM_199129.2:c.242-4718_242-4712del	NM_199129.2:c.242-4717_242-4712del	NM_199129.2:c.242-4715_242-4712del	NM_199129.2:c.242-4713_242-4712del	NM_199129.2:c.242-4712del	NM_199129.2:c.242-4712dup	NM_199129.2:c.242-4713_242-4712dup	NM_199129.2:c.242-4714_242-4712dup	NM_199129.2:c.242-4715_242-4712dup	NM_199129.2:c.242-4716_242-4712dup	NM_199129.2:c.242-4717_242-4712dup	NM_199129.2:c.242-4718_242-4712dup	NM_199129.2:c.242-4719_242-4712dup	NM_199129.2:c.242-4720_242-4712dup	NM_199129.2:c.242-4721_242-4712dup	NM_199129.2:c.242-4725_242-4712dup
PEDS1 transcript variant 1	NM_199129.4:c.242-4712=	NM_199129.4:c.242-4725_242-4712del	NM_199129.4:c.242-4724_242-4712del	NM_199129.4:c.242-4723_242-4712del	NM_199129.4:c.242-4722_242-4712del	NM_199129.4:c.242-4721_242-4712del	NM_199129.4:c.242-4720_242-4712del	NM_199129.4:c.242-4719_242-4712del	NM_199129.4:c.242-4718_242-4712del	NM_199129.4:c.242-4717_242-4712del	NM_199129.4:c.242-4715_242-4712del	NM_199129.4:c.242-4713_242-4712del	NM_199129.4:c.242-4712del	NM_199129.4:c.242-4712dup	NM_199129.4:c.242-4713_242-4712dup	NM_199129.4:c.242-4714_242-4712dup	NM_199129.4:c.242-4715_242-4712dup	NM_199129.4:c.242-4716_242-4712dup	NM_199129.4:c.242-4717_242-4712dup	NM_199129.4:c.242-4718_242-4712dup	NM_199129.4:c.242-4719_242-4712dup	NM_199129.4:c.242-4720_242-4712dup	NM_199129.4:c.242-4721_242-4712dup	NM_199129.4:c.242-4725_242-4712dup
TMEM189-UBE2V1 transcript	NM_199203.2:c.242-4712=	NM_199203.2:c.242-4725_242-4712del	NM_199203.2:c.242-4724_242-4712del	NM_199203.2:c.242-4723_242-4712del	NM_199203.2:c.242-4722_242-4712del	NM_199203.2:c.242-4721_242-4712del	NM_199203.2:c.242-4720_242-4712del	NM_199203.2:c.242-4719_242-4712del	NM_199203.2:c.242-4718_242-4712del	NM_199203.2:c.242-4717_242-4712del	NM_199203.2:c.242-4715_242-4712del	NM_199203.2:c.242-4713_242-4712del	NM_199203.2:c.242-4712del	NM_199203.2:c.242-4712dup	NM_199203.2:c.242-4713_242-4712dup	NM_199203.2:c.242-4714_242-4712dup	NM_199203.2:c.242-4715_242-4712dup	NM_199203.2:c.242-4716_242-4712dup	NM_199203.2:c.242-4717_242-4712dup	NM_199203.2:c.242-4718_242-4712dup	NM_199203.2:c.242-4719_242-4712dup	NM_199203.2:c.242-4720_242-4712dup	NM_199203.2:c.242-4721_242-4712dup	NM_199203.2:c.242-4725_242-4712dup
PEDS1-UBE2V1 transcript	NM_199203.3:c.242-4712=	NM_199203.3:c.242-4725_242-4712del	NM_199203.3:c.242-4724_242-4712del	NM_199203.3:c.242-4723_242-4712del	NM_199203.3:c.242-4722_242-4712del	NM_199203.3:c.242-4721_242-4712del	NM_199203.3:c.242-4720_242-4712del	NM_199203.3:c.242-4719_242-4712del	NM_199203.3:c.242-4718_242-4712del	NM_199203.3:c.242-4717_242-4712del	NM_199203.3:c.242-4715_242-4712del	NM_199203.3:c.242-4713_242-4712del	NM_199203.3:c.242-4712del	NM_199203.3:c.242-4712dup	NM_199203.3:c.242-4713_242-4712dup	NM_199203.3:c.242-4714_242-4712dup	NM_199203.3:c.242-4715_242-4712dup	NM_199203.3:c.242-4716_242-4712dup	NM_199203.3:c.242-4717_242-4712dup	NM_199203.3:c.242-4718_242-4712dup	NM_199203.3:c.242-4719_242-4712dup	NM_199203.3:c.242-4720_242-4712dup	NM_199203.3:c.242-4721_242-4712dup	NM_199203.3:c.242-4725_242-4712dup

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#.

46 SubSNP, 35 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss41366030	Mar 15, 2006 (126)
2	ABI	ss41395055	Mar 13, 2006 (126)
3	HUMANGENOME_JCVI	ss95742262	Feb 05, 2009 (130)
4	PJP	ss295052178	May 09, 2011 (135)
5	SWEGEN	ss3018303189	Nov 08, 2017 (151)
6	PACBIO	ss3798441895	Jul 13, 2019 (153)
7	GNOMAD	ss4354695477	Apr 27, 2021 (155)
8	GNOMAD	ss4354695478	Apr 27, 2021 (155)
9	GNOMAD	ss4354695479	Apr 27, 2021 (155)
10	GNOMAD	ss4354695480	Apr 27, 2021 (155)
11	GNOMAD	ss4354695481	Apr 27, 2021 (155)
12	GNOMAD	ss4354695482	Apr 27, 2021 (155)
13	GNOMAD	ss4354695483	Apr 27, 2021 (155)
14	GNOMAD	ss4354695484	Apr 27, 2021 (155)
15	GNOMAD	ss4354695485	Apr 27, 2021 (155)
16	GNOMAD	ss4354695486	Apr 27, 2021 (155)
17	GNOMAD	ss4354695487	Apr 27, 2021 (155)
18	GNOMAD	ss4354695489	Apr 27, 2021 (155)
19	GNOMAD	ss4354695490	Apr 27, 2021 (155)
20	GNOMAD	ss4354695491	Apr 27, 2021 (155)
21	GNOMAD	ss4354695492	Apr 27, 2021 (155)
22	GNOMAD	ss4354695493	Apr 27, 2021 (155)
23	GNOMAD	ss4354695494	Apr 27, 2021 (155)
24	GNOMAD	ss4354695495	Apr 27, 2021 (155)
25	GNOMAD	ss4354695496	Apr 27, 2021 (155)
26	GNOMAD	ss4354695497	Apr 27, 2021 (155)
27	TOPMED	ss5091201328	Apr 27, 2021 (155)
28	TOMMO_GENOMICS	ss5229994309	Apr 27, 2021 (155)
29	TOMMO_GENOMICS	ss5229994310	Apr 27, 2021 (155)
30	TOMMO_GENOMICS	ss5229994311	Apr 27, 2021 (155)
31	TOMMO_GENOMICS	ss5229994312	Apr 27, 2021 (155)
32	TOMMO_GENOMICS	ss5229994313	Apr 27, 2021 (155)
33	TOMMO_GENOMICS	ss5229994314	Apr 27, 2021 (155)
34	1000G_HIGH_COVERAGE	ss5309063990	Oct 16, 2022 (156)
35	HUGCELL_USP	ss5501316247	Oct 16, 2022 (156)
36	HUGCELL_USP	ss5501316248	Oct 16, 2022 (156)
37	HUGCELL_USP	ss5501316249	Oct 16, 2022 (156)
38	HUGCELL_USP	ss5501316250	Oct 16, 2022 (156)
39	TOMMO_GENOMICS	ss5789905076	Oct 16, 2022 (156)
40	TOMMO_GENOMICS	ss5789905077	Oct 16, 2022 (156)
41	TOMMO_GENOMICS	ss5789905078	Oct 16, 2022 (156)
42	TOMMO_GENOMICS	ss5789905079	Oct 16, 2022 (156)
43	TOMMO_GENOMICS	ss5789905080	Oct 16, 2022 (156)
44	TOMMO_GENOMICS	ss5789905081	Oct 16, 2022 (156)
45	EVA	ss5845795290	Oct 16, 2022 (156)
46	EVA	ss5845795291	Oct 16, 2022 (156)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 554021024 (NC_000020.11:50135658::A 1294/34296) Row 554021025 (NC_000020.11:50135658::AA 289/34926) Row 554021026 (NC_000020.11:50135658::AAA 10859/35290)...	-	Apr 27, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 554021024 (NC_000020.11:50135658::A 1294/34296) Row 554021025 (NC_000020.11:50135658::AA 289/34926) Row 554021026 (NC_000020.11:50135658::AAA 10859/35290)...	-	Apr 27, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 554021024 (NC_000020.11:50135658::A 1294/34296) Row 554021025 (NC_000020.11:50135658::AA 289/34926) Row 554021026 (NC_000020.11:50135658::AAA 10859/35290)...	-	Apr 27, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 554021024 (NC_000020.11:50135658::A 1294/34296) Row 554021025 (NC_000020.11:50135658::AA 289/34926) Row 554021026 (NC_000020.11:50135658::AAA 10859/35290)...	-	Apr 27, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 554021024 (NC_000020.11:50135658::A 1294/34296) Row 554021025 (NC_000020.11:50135658::AA 289/34926) Row 554021026 (NC_000020.11:50135658::AAA 10859/35290)...	-	Apr 27, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 554021024 (NC_000020.11:50135658::A 1294/34296) Row 554021025 (NC_000020.11:50135658::AA 289/34926) Row 554021026 (NC_000020.11:50135658::AAA 10859/35290)...	-	Apr 27, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 554021024 (NC_000020.11:50135658::A 1294/34296) Row 554021025 (NC_000020.11:50135658::AA 289/34926) Row 554021026 (NC_000020.11:50135658::AAA 10859/35290)...	-	Apr 27, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 554021024 (NC_000020.11:50135658::A 1294/34296) Row 554021025 (NC_000020.11:50135658::AA 289/34926) Row 554021026 (NC_000020.11:50135658::AAA 10859/35290)...	-	Apr 27, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 554021024 (NC_000020.11:50135658::A 1294/34296) Row 554021025 (NC_000020.11:50135658::AA 289/34926) Row 554021026 (NC_000020.11:50135658::AAA 10859/35290)...	-	Apr 27, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 554021024 (NC_000020.11:50135658::A 1294/34296) Row 554021025 (NC_000020.11:50135658::AA 289/34926) Row 554021026 (NC_000020.11:50135658::AAA 10859/35290)...	-	Apr 27, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 554021024 (NC_000020.11:50135658::A 1294/34296) Row 554021025 (NC_000020.11:50135658::AA 289/34926) Row 554021026 (NC_000020.11:50135658::AAA 10859/35290)...	-	Apr 27, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 554021024 (NC_000020.11:50135658::A 1294/34296) Row 554021025 (NC_000020.11:50135658::AA 289/34926) Row 554021026 (NC_000020.11:50135658::AAA 10859/35290)...	-	Apr 27, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 554021024 (NC_000020.11:50135658::A 1294/34296) Row 554021025 (NC_000020.11:50135658::AA 289/34926) Row 554021026 (NC_000020.11:50135658::AAA 10859/35290)...	-	Apr 27, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 554021024 (NC_000020.11:50135658::A 1294/34296) Row 554021025 (NC_000020.11:50135658::AA 289/34926) Row 554021026 (NC_000020.11:50135658::AAA 10859/35290)...	-	Apr 27, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 554021024 (NC_000020.11:50135658::A 1294/34296) Row 554021025 (NC_000020.11:50135658::AA 289/34926) Row 554021026 (NC_000020.11:50135658::AAA 10859/35290)...	-	Apr 27, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 554021024 (NC_000020.11:50135658::A 1294/34296) Row 554021025 (NC_000020.11:50135658::AA 289/34926) Row 554021026 (NC_000020.11:50135658::AAA 10859/35290)...	-	Apr 27, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 554021024 (NC_000020.11:50135658::A 1294/34296) Row 554021025 (NC_000020.11:50135658::AA 289/34926) Row 554021026 (NC_000020.11:50135658::AAA 10859/35290)...	-	Apr 27, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 554021024 (NC_000020.11:50135658::A 1294/34296) Row 554021025 (NC_000020.11:50135658::AA 289/34926) Row 554021026 (NC_000020.11:50135658::AAA 10859/35290)...	-	Apr 27, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 554021024 (NC_000020.11:50135658::A 1294/34296) Row 554021025 (NC_000020.11:50135658::AA 289/34926) Row 554021026 (NC_000020.11:50135658::AAA 10859/35290)...	-	Apr 27, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 554021024 (NC_000020.11:50135658::A 1294/34296) Row 554021025 (NC_000020.11:50135658::AA 289/34926) Row 554021026 (NC_000020.11:50135658::AAA 10859/35290)...	-	Apr 27, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 554021024 (NC_000020.11:50135658::A 1294/34296) Row 554021025 (NC_000020.11:50135658::AA 289/34926) Row 554021026 (NC_000020.11:50135658::AAA 10859/35290)...	-	Apr 27, 2021 (155)
68	8.3KJPN Submission ignored due to conflicting rows: Row 87963616 (NC_000020.10:48752195::A 768/16334) Row 87963617 (NC_000020.10:48752195::AAA 1983/16334) Row 87963618 (NC_000020.10:48752195:A: 678/16334)...	-	Apr 27, 2021 (155)
69	8.3KJPN Submission ignored due to conflicting rows: Row 87963616 (NC_000020.10:48752195::A 768/16334) Row 87963617 (NC_000020.10:48752195::AAA 1983/16334) Row 87963618 (NC_000020.10:48752195:A: 678/16334)...	-	Apr 27, 2021 (155)
70	8.3KJPN Submission ignored due to conflicting rows: Row 87963616 (NC_000020.10:48752195::A 768/16334) Row 87963617 (NC_000020.10:48752195::AAA 1983/16334) Row 87963618 (NC_000020.10:48752195:A: 678/16334)...	-	Apr 27, 2021 (155)
71	8.3KJPN Submission ignored due to conflicting rows: Row 87963616 (NC_000020.10:48752195::A 768/16334) Row 87963617 (NC_000020.10:48752195::AAA 1983/16334) Row 87963618 (NC_000020.10:48752195:A: 678/16334)...	-	Apr 27, 2021 (155)
72	8.3KJPN Submission ignored due to conflicting rows: Row 87963616 (NC_000020.10:48752195::A 768/16334) Row 87963617 (NC_000020.10:48752195::AAA 1983/16334) Row 87963618 (NC_000020.10:48752195:A: 678/16334)...	-	Apr 27, 2021 (155)
73	8.3KJPN Submission ignored due to conflicting rows: Row 87963616 (NC_000020.10:48752195::A 768/16334) Row 87963617 (NC_000020.10:48752195::AAA 1983/16334) Row 87963618 (NC_000020.10:48752195:A: 678/16334)...	-	Apr 27, 2021 (155)
74	14KJPN Submission ignored due to conflicting rows: Row 123742180 (NC_000020.11:50135658::A 1045/26842) Row 123742181 (NC_000020.11:50135658:A: 1362/26842) Row 123742182 (NC_000020.11:50135658:AA: 74/26842)...	-	Oct 16, 2022 (156)
75	14KJPN Submission ignored due to conflicting rows: Row 123742180 (NC_000020.11:50135658::A 1045/26842) Row 123742181 (NC_000020.11:50135658:A: 1362/26842) Row 123742182 (NC_000020.11:50135658:AA: 74/26842)...	-	Oct 16, 2022 (156)
76	14KJPN Submission ignored due to conflicting rows: Row 123742180 (NC_000020.11:50135658::A 1045/26842) Row 123742181 (NC_000020.11:50135658:A: 1362/26842) Row 123742182 (NC_000020.11:50135658:AA: 74/26842)...	-	Oct 16, 2022 (156)
77	14KJPN Submission ignored due to conflicting rows: Row 123742180 (NC_000020.11:50135658::A 1045/26842) Row 123742181 (NC_000020.11:50135658:A: 1362/26842) Row 123742182 (NC_000020.11:50135658:AA: 74/26842)...	-	Oct 16, 2022 (156)
78	14KJPN Submission ignored due to conflicting rows: Row 123742180 (NC_000020.11:50135658::A 1045/26842) Row 123742181 (NC_000020.11:50135658:A: 1362/26842) Row 123742182 (NC_000020.11:50135658:AA: 74/26842)...	-	Oct 16, 2022 (156)
79	14KJPN Submission ignored due to conflicting rows: Row 123742180 (NC_000020.11:50135658::A 1045/26842) Row 123742181 (NC_000020.11:50135658:A: 1362/26842) Row 123742182 (NC_000020.11:50135658:AA: 74/26842)...	-	Oct 16, 2022 (156)
80	TopMed	NC_000020.11 - 50135659	Apr 27, 2021 (155)
81	ALFA	NC_000020.11 - 50135659	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).

Associated ID	History Updated (Build)
rs138821386	Sep 17, 2011 (135)
rs36033382	Oct 14, 2006 (127)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
7886245461	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
7886245461	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss4354695497	NC_000020.11:50135658:AAAAAAAAAAAA:	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
7886245461	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4354695496	NC_000020.11:50135658:AAAAAAAAAAA:	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
7886245461	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
366310273, ss4354695495, ss5091201328	NC_000020.11:50135658:AAAAAAAAAA:	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
7886245461	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4354695494	NC_000020.11:50135658:AAAAAAAAA:	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
7886245461	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4354695493	NC_000020.11:50135658:AAAAAAAA:	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
7886245461	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4354695492	NC_000020.11:50135658:AAAAAAA:	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
7886245461	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4354695491	NC_000020.11:50135658:AAAAAA:	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
7886245461	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3018303189	NC_000020.10:48752195:AAAA:	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4354695490	NC_000020.11:50135658:AAAA:	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
7886245461	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4354695489, ss5789905078	NC_000020.11:50135658:AA:	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
7886245461	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss5229994311	NC_000020.10:48752195:A:	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5501316247, ss5789905077	NC_000020.11:50135658:A:	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
7886245461	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5229994309	NC_000020.10:48752195::A	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4354695477, ss5501316249, ss5789905076	NC_000020.11:50135658::A	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
7886245461	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss41366030, ss41395055	NT_011362.10:18948311::A	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3798441895, ss5229994312, ss5845795290	NC_000020.10:48752195::AA	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4354695478, ss5309063990, ss5501316250, ss5789905080	NC_000020.11:50135658::AA	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
7886245461	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss295052178	NC_000020.9:48185603::AAA	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5229994310, ss5845795291	NC_000020.10:48752195::AAA	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4354695479, ss5501316248, ss5789905079	NC_000020.11:50135658::AAA	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
7886245461	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss95742262	NT_011362.10:18948311::AAA	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5229994313	NC_000020.10:48752195::AAAA	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4354695480	NC_000020.11:50135658::AAAA	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
7886245461	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5229994314	NC_000020.10:48752195::AAAAA	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4354695481, ss5789905081	NC_000020.11:50135658::AAAAA	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
7886245461	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4354695482	NC_000020.11:50135658::AAAAAA	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
7886245461	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4354695483	NC_000020.11:50135658::AAAAAAA	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4354695484	NC_000020.11:50135658::AAAAAAAA	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4354695485	NC_000020.11:50135658::AAAAAAAAA	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4354695486	NC_000020.11:50135658::AAAAAAAAAA	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4354695487	NC_000020.11:50135658::AAAAAAAAAAA… NC_000020.11:50135658::AAAAAAAAAAAAAA	NC_000020.11:50135658:AAAAAAAAAAAA… NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(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 rs34069451

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

rs34069451