Name: rs11343442
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.

rs11343442

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr3:15441490-15441511 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: del(T)₁₃ / del(T)₁₂ / del(T)₁₁ / d…
del(T)₁₃ / del(T)₁₂ / del(T)₁₁ / del(T)₁₀ / del(T)₉ / del(T)₈ / del(T)₇ / del(T)₆ / del(T)₅ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅ / dup(T)₆ / dup(T)₇ / dup(T)₈ / dup(T)₉ / dup(T)₁₀ / dup(T)₁₁ / dup(T)₁₅ / dup(T)₂₂ / ins(T)₃₆
Variation Type: Indel Insertion and Deletion
Frequency: delT=0.0650 (510/7842, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: EAF1 : 3 Prime UTR 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	7842	TTTTTTTTTTTTTTTTTTTTTT=0.8995	TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0087, TTTTTTTTTTTTTTTTTTTTT=0.0650, TTTTTTTTTTTTTTTTTTTTTTT=0.0242, TTTTTTTTTTTTTTTTTTTTTTTT=0.0015, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0008, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0003, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.878993	0.006768	0.114239	5
European	Sub	7048	TTTTTTTTTTTTTTTTTTTTTT=0.8883	TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0095, TTTTTTTTTTTTTTTTTTTTT=0.0724, TTTTTTTTTTTTTTTTTTTTTTT=0.0270, TTTTTTTTTTTTTTTTTTTTTTTT=0.0017, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0009, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0003, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.864463	0.00758	0.127956	3
African	Sub	372	TTTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	12	TTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	360	TTTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	22	TTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	20	TTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	2	TTTTTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTT=0.0, TTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	46	TTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	198	TTTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	30	TTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	126	TTTTTTTTTTTTTTTTTTTTTT=0.992	TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.008, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A

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

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	7842	(T)₂₂=0.8995	del(T)₁₃=0.0000, del(T)₁₂=0.0000, del(T)₁₀=0.0000, del(T)₉=0.0000, del(T)₈=0.0000, del(T)₇=0.0000, del(T)₆=0.0000, del(T)₅=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0087, delT=0.0650, dupT=0.0242, dupTT=0.0015, dupTTT=0.0000, dup(T)₄=0.0008, dup(T)₂₂=0.0003
Allele Frequency Aggregator	European	Sub	7048	(T)₂₂=0.8883	del(T)₁₃=0.0000, del(T)₁₂=0.0000, del(T)₁₀=0.0000, del(T)₉=0.0000, del(T)₈=0.0000, del(T)₇=0.0000, del(T)₆=0.0000, del(T)₅=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0095, delT=0.0724, dupT=0.0270, dupTT=0.0017, dupTTT=0.0000, dup(T)₄=0.0009, dup(T)₂₂=0.0003
Allele Frequency Aggregator	African	Sub	372	(T)₂₂=1.000	del(T)₁₃=0.000, del(T)₁₂=0.000, del(T)₁₀=0.000, del(T)₉=0.000, del(T)₈=0.000, del(T)₇=0.000, del(T)₆=0.000, del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₂₂=0.000
Allele Frequency Aggregator	Latin American 2	Sub	198	(T)₂₂=1.000	del(T)₁₃=0.000, del(T)₁₂=0.000, del(T)₁₀=0.000, del(T)₉=0.000, del(T)₈=0.000, del(T)₇=0.000, del(T)₆=0.000, del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₂₂=0.000
Allele Frequency Aggregator	Other	Sub	126	(T)₂₂=0.992	del(T)₁₃=0.000, del(T)₁₂=0.000, del(T)₁₀=0.000, del(T)₉=0.000, del(T)₈=0.000, del(T)₇=0.000, del(T)₆=0.000, del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.008, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₂₂=0.000
Allele Frequency Aggregator	Latin American 1	Sub	46	(T)₂₂=1.00	del(T)₁₃=0.00, del(T)₁₂=0.00, del(T)₁₀=0.00, del(T)₉=0.00, del(T)₈=0.00, del(T)₇=0.00, del(T)₆=0.00, del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₂₂=0.00
Allele Frequency Aggregator	South Asian	Sub	30	(T)₂₂=1.00	del(T)₁₃=0.00, del(T)₁₂=0.00, del(T)₁₀=0.00, del(T)₉=0.00, del(T)₈=0.00, del(T)₇=0.00, del(T)₆=0.00, del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₂₂=0.00
Allele Frequency Aggregator	Asian	Sub	22	(T)₂₂=1.00	del(T)₁₃=0.00, del(T)₁₂=0.00, del(T)₁₀=0.00, del(T)₉=0.00, del(T)₈=0.00, del(T)₇=0.00, del(T)₆=0.00, del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₂₂=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 3	NC_000003.12:g.15441499_15441511del
GRCh38.p14 chr 3	NC_000003.12:g.15441500_15441511del
GRCh38.p14 chr 3	NC_000003.12:g.15441501_15441511del
GRCh38.p14 chr 3	NC_000003.12:g.15441502_15441511del
GRCh38.p14 chr 3	NC_000003.12:g.15441503_15441511del
GRCh38.p14 chr 3	NC_000003.12:g.15441504_15441511del
GRCh38.p14 chr 3	NC_000003.12:g.15441505_15441511del
GRCh38.p14 chr 3	NC_000003.12:g.15441506_15441511del
GRCh38.p14 chr 3	NC_000003.12:g.15441507_15441511del
GRCh38.p14 chr 3	NC_000003.12:g.15441508_15441511del
GRCh38.p14 chr 3	NC_000003.12:g.15441509_15441511del
GRCh38.p14 chr 3	NC_000003.12:g.15441510_15441511del
GRCh38.p14 chr 3	NC_000003.12:g.15441511del
GRCh38.p14 chr 3	NC_000003.12:g.15441511dup
GRCh38.p14 chr 3	NC_000003.12:g.15441510_15441511dup
GRCh38.p14 chr 3	NC_000003.12:g.15441509_15441511dup
GRCh38.p14 chr 3	NC_000003.12:g.15441508_15441511dup
GRCh38.p14 chr 3	NC_000003.12:g.15441507_15441511dup
GRCh38.p14 chr 3	NC_000003.12:g.15441506_15441511dup
GRCh38.p14 chr 3	NC_000003.12:g.15441505_15441511dup
GRCh38.p14 chr 3	NC_000003.12:g.15441504_15441511dup
GRCh38.p14 chr 3	NC_000003.12:g.15441503_15441511dup
GRCh38.p14 chr 3	NC_000003.12:g.15441502_15441511dup
GRCh38.p14 chr 3	NC_000003.12:g.15441501_15441511dup
GRCh38.p14 chr 3	NC_000003.12:g.15441497_15441511dup
GRCh38.p14 chr 3	NC_000003.12:g.15441490_15441511dup
GRCh38.p14 chr 3	NC_000003.12:g.15441511_15441512insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 3	NC_000003.11:g.15483006_15483018del
GRCh37.p13 chr 3	NC_000003.11:g.15483007_15483018del
GRCh37.p13 chr 3	NC_000003.11:g.15483008_15483018del
GRCh37.p13 chr 3	NC_000003.11:g.15483009_15483018del
GRCh37.p13 chr 3	NC_000003.11:g.15483010_15483018del
GRCh37.p13 chr 3	NC_000003.11:g.15483011_15483018del
GRCh37.p13 chr 3	NC_000003.11:g.15483012_15483018del
GRCh37.p13 chr 3	NC_000003.11:g.15483013_15483018del
GRCh37.p13 chr 3	NC_000003.11:g.15483014_15483018del
GRCh37.p13 chr 3	NC_000003.11:g.15483015_15483018del
GRCh37.p13 chr 3	NC_000003.11:g.15483016_15483018del
GRCh37.p13 chr 3	NC_000003.11:g.15483017_15483018del
GRCh37.p13 chr 3	NC_000003.11:g.15483018del
GRCh37.p13 chr 3	NC_000003.11:g.15483018dup
GRCh37.p13 chr 3	NC_000003.11:g.15483017_15483018dup
GRCh37.p13 chr 3	NC_000003.11:g.15483016_15483018dup
GRCh37.p13 chr 3	NC_000003.11:g.15483015_15483018dup
GRCh37.p13 chr 3	NC_000003.11:g.15483014_15483018dup
GRCh37.p13 chr 3	NC_000003.11:g.15483013_15483018dup
GRCh37.p13 chr 3	NC_000003.11:g.15483012_15483018dup
GRCh37.p13 chr 3	NC_000003.11:g.15483011_15483018dup
GRCh37.p13 chr 3	NC_000003.11:g.15483010_15483018dup
GRCh37.p13 chr 3	NC_000003.11:g.15483009_15483018dup
GRCh37.p13 chr 3	NC_000003.11:g.15483008_15483018dup
GRCh37.p13 chr 3	NC_000003.11:g.15483004_15483018dup
GRCh37.p13 chr 3	NC_000003.11:g.15482997_15483018dup
GRCh37.p13 chr 3	NC_000003.11:g.15483018_15483019insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Gene: EAF1, ELL associated factor 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
EAF1 transcript	NM_033083.7:c.2335_2356=	N/A	3 Prime UTR Variant
EAF1 transcript variant X1	XM_011534165.2:c.2335_2… XM_011534165.2:c.2335_2356=	N/A	3 Prime UTR Variant
EAF1 transcript variant X2	XM_011534166.2:c.2335_2… XM_011534166.2:c.2335_2356=	N/A	3 Prime UTR Variant

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

Not Reported in ClinVar

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

Placement	(T)₂₂=	del(T)₁₃	del(T)₁₂	del(T)₁₁	del(T)₁₀	del(T)₉	del(T)₈	del(T)₇	del(T)₆	del(T)₅	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅	dup(T)₆	dup(T)₇	dup(T)₈	dup(T)₉	dup(T)₁₀	dup(T)₁₁	dup(T)₁₅	dup(T)₂₂	ins(T)₃₆
GRCh38.p14 chr 3	NC_000003.12:g.15441490_15441511=	NC_000003.12:g.15441499_15441511del	NC_000003.12:g.15441500_15441511del	NC_000003.12:g.15441501_15441511del	NC_000003.12:g.15441502_15441511del	NC_000003.12:g.15441503_15441511del	NC_000003.12:g.15441504_15441511del	NC_000003.12:g.15441505_15441511del	NC_000003.12:g.15441506_15441511del	NC_000003.12:g.15441507_15441511del	NC_000003.12:g.15441508_15441511del	NC_000003.12:g.15441509_15441511del	NC_000003.12:g.15441510_15441511del	NC_000003.12:g.15441511del	NC_000003.12:g.15441511dup	NC_000003.12:g.15441510_15441511dup	NC_000003.12:g.15441509_15441511dup	NC_000003.12:g.15441508_15441511dup	NC_000003.12:g.15441507_15441511dup	NC_000003.12:g.15441506_15441511dup	NC_000003.12:g.15441505_15441511dup	NC_000003.12:g.15441504_15441511dup	NC_000003.12:g.15441503_15441511dup	NC_000003.12:g.15441502_15441511dup	NC_000003.12:g.15441501_15441511dup	NC_000003.12:g.15441497_15441511dup	NC_000003.12:g.15441490_15441511dup	NC_000003.12:g.15441511_15441512insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 3	NC_000003.11:g.15482997_15483018=	NC_000003.11:g.15483006_15483018del	NC_000003.11:g.15483007_15483018del	NC_000003.11:g.15483008_15483018del	NC_000003.11:g.15483009_15483018del	NC_000003.11:g.15483010_15483018del	NC_000003.11:g.15483011_15483018del	NC_000003.11:g.15483012_15483018del	NC_000003.11:g.15483013_15483018del	NC_000003.11:g.15483014_15483018del	NC_000003.11:g.15483015_15483018del	NC_000003.11:g.15483016_15483018del	NC_000003.11:g.15483017_15483018del	NC_000003.11:g.15483018del	NC_000003.11:g.15483018dup	NC_000003.11:g.15483017_15483018dup	NC_000003.11:g.15483016_15483018dup	NC_000003.11:g.15483015_15483018dup	NC_000003.11:g.15483014_15483018dup	NC_000003.11:g.15483013_15483018dup	NC_000003.11:g.15483012_15483018dup	NC_000003.11:g.15483011_15483018dup	NC_000003.11:g.15483010_15483018dup	NC_000003.11:g.15483009_15483018dup	NC_000003.11:g.15483008_15483018dup	NC_000003.11:g.15483004_15483018dup	NC_000003.11:g.15482997_15483018dup	NC_000003.11:g.15483018_15483019insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
EAF1 transcript	NM_033083.7:c.2335_2356=	NM_033083.7:c.2344_2356del	NM_033083.7:c.2345_2356del	NM_033083.7:c.2346_2356del	NM_033083.7:c.2347_2356del	NM_033083.7:c.2348_2356del	NM_033083.7:c.2349_2356del	NM_033083.7:c.2350_2356del	NM_033083.7:c.2351_2356del	NM_033083.7:c.2352_2356del	NM_033083.7:c.2353_2356del	NM_033083.7:c.2354_2356del	NM_033083.7:c.2355_2356del	NM_033083.7:c.*2356del	NM_033083.7:c.*2356dup	NM_033083.7:c.2355_2356dup	NM_033083.7:c.2354_2356dup	NM_033083.7:c.2353_2356dup	NM_033083.7:c.2352_2356dup	NM_033083.7:c.2351_2356dup	NM_033083.7:c.2350_2356dup	NM_033083.7:c.2349_2356dup	NM_033083.7:c.2348_2356dup	NM_033083.7:c.2347_2356dup	NM_033083.7:c.2346_2356dup	NM_033083.7:c.2342_2356dup	NM_033083.7:c.2335_2356dup	NM_033083.7:c.2356_2357insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
EAF1 transcript	NM_033083.6:c.2335_2356=	NM_033083.6:c.2344_2356del	NM_033083.6:c.2345_2356del	NM_033083.6:c.2346_2356del	NM_033083.6:c.2347_2356del	NM_033083.6:c.2348_2356del	NM_033083.6:c.2349_2356del	NM_033083.6:c.2350_2356del	NM_033083.6:c.2351_2356del	NM_033083.6:c.2352_2356del	NM_033083.6:c.2353_2356del	NM_033083.6:c.2354_2356del	NM_033083.6:c.2355_2356del	NM_033083.6:c.*2356del	NM_033083.6:c.*2356dup	NM_033083.6:c.2355_2356dup	NM_033083.6:c.2354_2356dup	NM_033083.6:c.2353_2356dup	NM_033083.6:c.2352_2356dup	NM_033083.6:c.2351_2356dup	NM_033083.6:c.2350_2356dup	NM_033083.6:c.2349_2356dup	NM_033083.6:c.2348_2356dup	NM_033083.6:c.2347_2356dup	NM_033083.6:c.2346_2356dup	NM_033083.6:c.2342_2356dup	NM_033083.6:c.2335_2356dup	NM_033083.6:c.2356_2357insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
EAF1 transcript variant X1	XM_011534165.2:c.2335_2356=	XM_011534165.2:c.2344_2356del	XM_011534165.2:c.2345_2356del	XM_011534165.2:c.2346_2356del	XM_011534165.2:c.2347_2356del	XM_011534165.2:c.2348_2356del	XM_011534165.2:c.2349_2356del	XM_011534165.2:c.2350_2356del	XM_011534165.2:c.2351_2356del	XM_011534165.2:c.2352_2356del	XM_011534165.2:c.2353_2356del	XM_011534165.2:c.2354_2356del	XM_011534165.2:c.2355_2356del	XM_011534165.2:c.*2356del	XM_011534165.2:c.*2356dup	XM_011534165.2:c.2355_2356dup	XM_011534165.2:c.2354_2356dup	XM_011534165.2:c.2353_2356dup	XM_011534165.2:c.2352_2356dup	XM_011534165.2:c.2351_2356dup	XM_011534165.2:c.2350_2356dup	XM_011534165.2:c.2349_2356dup	XM_011534165.2:c.2348_2356dup	XM_011534165.2:c.2347_2356dup	XM_011534165.2:c.2346_2356dup	XM_011534165.2:c.2342_2356dup	XM_011534165.2:c.2335_2356dup	XM_011534165.2:c.2356_2357insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
EAF1 transcript variant X2	XM_011534165.1:c.2335_2356=	XM_011534165.1:c.2344_2356del	XM_011534165.1:c.2345_2356del	XM_011534165.1:c.2346_2356del	XM_011534165.1:c.2347_2356del	XM_011534165.1:c.2348_2356del	XM_011534165.1:c.2349_2356del	XM_011534165.1:c.2350_2356del	XM_011534165.1:c.2351_2356del	XM_011534165.1:c.2352_2356del	XM_011534165.1:c.2353_2356del	XM_011534165.1:c.2354_2356del	XM_011534165.1:c.2355_2356del	XM_011534165.1:c.*2356del	XM_011534165.1:c.*2356dup	XM_011534165.1:c.2355_2356dup	XM_011534165.1:c.2354_2356dup	XM_011534165.1:c.2353_2356dup	XM_011534165.1:c.2352_2356dup	XM_011534165.1:c.2351_2356dup	XM_011534165.1:c.2350_2356dup	XM_011534165.1:c.2349_2356dup	XM_011534165.1:c.2348_2356dup	XM_011534165.1:c.2347_2356dup	XM_011534165.1:c.2346_2356dup	XM_011534165.1:c.2342_2356dup	XM_011534165.1:c.2335_2356dup	XM_011534165.1:c.2356_2357insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
EAF1 transcript variant X2	XM_011534166.2:c.2335_2356=	XM_011534166.2:c.2344_2356del	XM_011534166.2:c.2345_2356del	XM_011534166.2:c.2346_2356del	XM_011534166.2:c.2347_2356del	XM_011534166.2:c.2348_2356del	XM_011534166.2:c.2349_2356del	XM_011534166.2:c.2350_2356del	XM_011534166.2:c.2351_2356del	XM_011534166.2:c.2352_2356del	XM_011534166.2:c.2353_2356del	XM_011534166.2:c.2354_2356del	XM_011534166.2:c.2355_2356del	XM_011534166.2:c.*2356del	XM_011534166.2:c.*2356dup	XM_011534166.2:c.2355_2356dup	XM_011534166.2:c.2354_2356dup	XM_011534166.2:c.2353_2356dup	XM_011534166.2:c.2352_2356dup	XM_011534166.2:c.2351_2356dup	XM_011534166.2:c.2350_2356dup	XM_011534166.2:c.2349_2356dup	XM_011534166.2:c.2348_2356dup	XM_011534166.2:c.2347_2356dup	XM_011534166.2:c.2346_2356dup	XM_011534166.2:c.2342_2356dup	XM_011534166.2:c.2335_2356dup	XM_011534166.2:c.2356_2357insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
EAF1 transcript variant X3	XM_011534166.1:c.2335_2356=	XM_011534166.1:c.2344_2356del	XM_011534166.1:c.2345_2356del	XM_011534166.1:c.2346_2356del	XM_011534166.1:c.2347_2356del	XM_011534166.1:c.2348_2356del	XM_011534166.1:c.2349_2356del	XM_011534166.1:c.2350_2356del	XM_011534166.1:c.2351_2356del	XM_011534166.1:c.2352_2356del	XM_011534166.1:c.2353_2356del	XM_011534166.1:c.2354_2356del	XM_011534166.1:c.2355_2356del	XM_011534166.1:c.*2356del	XM_011534166.1:c.*2356dup	XM_011534166.1:c.2355_2356dup	XM_011534166.1:c.2354_2356dup	XM_011534166.1:c.2353_2356dup	XM_011534166.1:c.2352_2356dup	XM_011534166.1:c.2351_2356dup	XM_011534166.1:c.2350_2356dup	XM_011534166.1:c.2349_2356dup	XM_011534166.1:c.2348_2356dup	XM_011534166.1:c.2347_2356dup	XM_011534166.1:c.2346_2356dup	XM_011534166.1:c.2342_2356dup	XM_011534166.1:c.2335_2356dup	XM_011534166.1:c.2356_2357insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

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, 37 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss41994670	Mar 14, 2006 (137)
2	HGSV	ss80390972	Dec 15, 2007 (137)
3	HUMANGENOME_JCVI	ss95310989	Feb 06, 2009 (137)
4	PJP	ss295089364	May 09, 2011 (137)
5	PJP	ss295089365	May 09, 2011 (137)
6	EVA_UK10K_TWINSUK	ss1703523778	Apr 01, 2015 (144)
7	EVA_UK10K_ALSPAC	ss1703523785	Apr 01, 2015 (144)
8	EVA_UK10K_ALSPAC	ss1710068707	Apr 01, 2015 (144)
9	EVA_UK10K_TWINSUK	ss1710068720	Apr 01, 2015 (144)
10	TMC_SNPDB	ss1997155397	Jul 19, 2016 (147)
11	SWEGEN	ss2991879525	Nov 08, 2017 (151)
12	MCHAISSO	ss3065868718	Nov 08, 2017 (151)
13	EVA	ss3827677140	Apr 25, 2020 (154)
14	GNOMAD	ss4066364337	Apr 27, 2021 (155)
15	GNOMAD	ss4066364338	Apr 27, 2021 (155)
16	GNOMAD	ss4066364339	Apr 27, 2021 (155)
17	GNOMAD	ss4066364340	Apr 27, 2021 (155)
18	GNOMAD	ss4066364341	Apr 27, 2021 (155)
19	GNOMAD	ss4066364342	Apr 27, 2021 (155)
20	GNOMAD	ss4066364343	Apr 27, 2021 (155)
21	GNOMAD	ss4066364344	Apr 27, 2021 (155)
22	GNOMAD	ss4066364345	Apr 27, 2021 (155)
23	GNOMAD	ss4066364346	Apr 27, 2021 (155)
24	GNOMAD	ss4066364347	Apr 27, 2021 (155)
25	GNOMAD	ss4066364348	Apr 27, 2021 (155)
26	GNOMAD	ss4066364349	Apr 27, 2021 (155)
27	GNOMAD	ss4066364350	Apr 27, 2021 (155)
28	GNOMAD	ss4066364351	Apr 27, 2021 (155)
29	GNOMAD	ss4066364352	Apr 27, 2021 (155)
30	GNOMAD	ss4066364353	Apr 27, 2021 (155)
31	GNOMAD	ss4066364354	Apr 27, 2021 (155)
32	GNOMAD	ss4066364355	Apr 27, 2021 (155)
33	GNOMAD	ss4066364356	Apr 27, 2021 (155)
34	GNOMAD	ss4066364357	Apr 27, 2021 (155)
35	GNOMAD	ss4066364358	Apr 27, 2021 (155)
36	TOMMO_GENOMICS	ss5157937522	Apr 27, 2021 (155)
37	TOMMO_GENOMICS	ss5157937523	Apr 27, 2021 (155)
38	TOMMO_GENOMICS	ss5157937524	Apr 27, 2021 (155)
39	TOMMO_GENOMICS	ss5157937525	Apr 27, 2021 (155)
40	TOMMO_GENOMICS	ss5157937526	Apr 27, 2021 (155)
41	1000G_HIGH_COVERAGE	ss5253156478	Oct 13, 2022 (156)
42	1000G_HIGH_COVERAGE	ss5253156479	Oct 13, 2022 (156)
43	1000G_HIGH_COVERAGE	ss5253156480	Oct 13, 2022 (156)
44	HUGCELL_USP	ss5452645629	Oct 13, 2022 (156)
45	HUGCELL_USP	ss5452645630	Oct 13, 2022 (156)
46	HUGCELL_USP	ss5452645631	Oct 13, 2022 (156)
47	TOMMO_GENOMICS	ss5689246108	Oct 13, 2022 (156)
48	TOMMO_GENOMICS	ss5689246109	Oct 13, 2022 (156)
49	TOMMO_GENOMICS	ss5689246110	Oct 13, 2022 (156)
50	TOMMO_GENOMICS	ss5689246111	Oct 13, 2022 (156)
51	TOMMO_GENOMICS	ss5689246112	Oct 13, 2022 (156)
52	EVA	ss5825388450	Oct 13, 2022 (156)
53	EVA	ss5825388451	Oct 13, 2022 (156)
54	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 7805809 (NC_000003.11:15482997:T: 2070/3854) Row 7805810 (NC_000003.11:15482996:TTT: 1164/3854)	-	Oct 12, 2018 (152)
55	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 7805809 (NC_000003.11:15482997:T: 2070/3854) Row 7805810 (NC_000003.11:15482996:TTT: 1164/3854)	-	Oct 12, 2018 (152)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 99908648 (NC_000003.12:15441489::T 2556/66220) Row 99908649 (NC_000003.12:15441489::TT 192/66220) Row 99908650 (NC_000003.12:15441489::TTT 42/66214)...	-	Apr 27, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 99908648 (NC_000003.12:15441489::T 2556/66220) Row 99908649 (NC_000003.12:15441489::TT 192/66220) Row 99908650 (NC_000003.12:15441489::TTT 42/66214)...	-	Apr 27, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 99908648 (NC_000003.12:15441489::T 2556/66220) Row 99908649 (NC_000003.12:15441489::TT 192/66220) Row 99908650 (NC_000003.12:15441489::TTT 42/66214)...	-	Apr 27, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 99908648 (NC_000003.12:15441489::T 2556/66220) Row 99908649 (NC_000003.12:15441489::TT 192/66220) Row 99908650 (NC_000003.12:15441489::TTT 42/66214)...	-	Apr 27, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 99908648 (NC_000003.12:15441489::T 2556/66220) Row 99908649 (NC_000003.12:15441489::TT 192/66220) Row 99908650 (NC_000003.12:15441489::TTT 42/66214)...	-	Apr 27, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 99908648 (NC_000003.12:15441489::T 2556/66220) Row 99908649 (NC_000003.12:15441489::TT 192/66220) Row 99908650 (NC_000003.12:15441489::TTT 42/66214)...	-	Apr 27, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 99908648 (NC_000003.12:15441489::T 2556/66220) Row 99908649 (NC_000003.12:15441489::TT 192/66220) Row 99908650 (NC_000003.12:15441489::TTT 42/66214)...	-	Apr 27, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 99908648 (NC_000003.12:15441489::T 2556/66220) Row 99908649 (NC_000003.12:15441489::TT 192/66220) Row 99908650 (NC_000003.12:15441489::TTT 42/66214)...	-	Apr 27, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 99908648 (NC_000003.12:15441489::T 2556/66220) Row 99908649 (NC_000003.12:15441489::TT 192/66220) Row 99908650 (NC_000003.12:15441489::TTT 42/66214)...	-	Apr 27, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 99908648 (NC_000003.12:15441489::T 2556/66220) Row 99908649 (NC_000003.12:15441489::TT 192/66220) Row 99908650 (NC_000003.12:15441489::TTT 42/66214)...	-	Apr 27, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 99908648 (NC_000003.12:15441489::T 2556/66220) Row 99908649 (NC_000003.12:15441489::TT 192/66220) Row 99908650 (NC_000003.12:15441489::TTT 42/66214)...	-	Apr 27, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 99908648 (NC_000003.12:15441489::T 2556/66220) Row 99908649 (NC_000003.12:15441489::TT 192/66220) Row 99908650 (NC_000003.12:15441489::TTT 42/66214)...	-	Apr 27, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 99908648 (NC_000003.12:15441489::T 2556/66220) Row 99908649 (NC_000003.12:15441489::TT 192/66220) Row 99908650 (NC_000003.12:15441489::TTT 42/66214)...	-	Apr 27, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 99908648 (NC_000003.12:15441489::T 2556/66220) Row 99908649 (NC_000003.12:15441489::TT 192/66220) Row 99908650 (NC_000003.12:15441489::TTT 42/66214)...	-	Apr 27, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 99908648 (NC_000003.12:15441489::T 2556/66220) Row 99908649 (NC_000003.12:15441489::TT 192/66220) Row 99908650 (NC_000003.12:15441489::TTT 42/66214)...	-	Apr 27, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 99908648 (NC_000003.12:15441489::T 2556/66220) Row 99908649 (NC_000003.12:15441489::TT 192/66220) Row 99908650 (NC_000003.12:15441489::TTT 42/66214)...	-	Apr 27, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 99908648 (NC_000003.12:15441489::T 2556/66220) Row 99908649 (NC_000003.12:15441489::TT 192/66220) Row 99908650 (NC_000003.12:15441489::TTT 42/66214)...	-	Apr 27, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 99908648 (NC_000003.12:15441489::T 2556/66220) Row 99908649 (NC_000003.12:15441489::TT 192/66220) Row 99908650 (NC_000003.12:15441489::TTT 42/66214)...	-	Apr 27, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 99908648 (NC_000003.12:15441489::T 2556/66220) Row 99908649 (NC_000003.12:15441489::TT 192/66220) Row 99908650 (NC_000003.12:15441489::TTT 42/66214)...	-	Apr 27, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 99908648 (NC_000003.12:15441489::T 2556/66220) Row 99908649 (NC_000003.12:15441489::TT 192/66220) Row 99908650 (NC_000003.12:15441489::TTT 42/66214)...	-	Apr 27, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 99908648 (NC_000003.12:15441489::T 2556/66220) Row 99908649 (NC_000003.12:15441489::TT 192/66220) Row 99908650 (NC_000003.12:15441489::TTT 42/66214)...	-	Apr 27, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 99908648 (NC_000003.12:15441489::T 2556/66220) Row 99908649 (NC_000003.12:15441489::TT 192/66220) Row 99908650 (NC_000003.12:15441489::TTT 42/66214)...	-	Apr 27, 2021 (155)
78	8.3KJPN Submission ignored due to conflicting rows: Row 15906829 (NC_000003.11:15482996:T: 5140/16504) Row 15906830 (NC_000003.11:15482996:TT: 652/16504) Row 15906831 (NC_000003.11:15482996::T 79/16504)...	-	Apr 27, 2021 (155)
79	8.3KJPN Submission ignored due to conflicting rows: Row 15906829 (NC_000003.11:15482996:T: 5140/16504) Row 15906830 (NC_000003.11:15482996:TT: 652/16504) Row 15906831 (NC_000003.11:15482996::T 79/16504)...	-	Apr 27, 2021 (155)
80	8.3KJPN Submission ignored due to conflicting rows: Row 15906829 (NC_000003.11:15482996:T: 5140/16504) Row 15906830 (NC_000003.11:15482996:TT: 652/16504) Row 15906831 (NC_000003.11:15482996::T 79/16504)...	-	Apr 27, 2021 (155)
81	8.3KJPN Submission ignored due to conflicting rows: Row 15906829 (NC_000003.11:15482996:T: 5140/16504) Row 15906830 (NC_000003.11:15482996:TT: 652/16504) Row 15906831 (NC_000003.11:15482996::T 79/16504)...	-	Apr 27, 2021 (155)
82	8.3KJPN Submission ignored due to conflicting rows: Row 15906829 (NC_000003.11:15482996:T: 5140/16504) Row 15906830 (NC_000003.11:15482996:TT: 652/16504) Row 15906831 (NC_000003.11:15482996::T 79/16504)...	-	Apr 27, 2021 (155)
83	14KJPN Submission ignored due to conflicting rows: Row 23083212 (NC_000003.12:15441489:T: 10790/28190) Row 23083213 (NC_000003.12:15441489:TT: 1346/28190) Row 23083214 (NC_000003.12:15441489:TTTTTTT: 6/28190)...	-	Oct 13, 2022 (156)
84	14KJPN Submission ignored due to conflicting rows: Row 23083212 (NC_000003.12:15441489:T: 10790/28190) Row 23083213 (NC_000003.12:15441489:TT: 1346/28190) Row 23083214 (NC_000003.12:15441489:TTTTTTT: 6/28190)...	-	Oct 13, 2022 (156)
85	14KJPN Submission ignored due to conflicting rows: Row 23083212 (NC_000003.12:15441489:T: 10790/28190) Row 23083213 (NC_000003.12:15441489:TT: 1346/28190) Row 23083214 (NC_000003.12:15441489:TTTTTTT: 6/28190)...	-	Oct 13, 2022 (156)
86	14KJPN Submission ignored due to conflicting rows: Row 23083212 (NC_000003.12:15441489:T: 10790/28190) Row 23083213 (NC_000003.12:15441489:TT: 1346/28190) Row 23083214 (NC_000003.12:15441489:TTTTTTT: 6/28190)...	-	Oct 13, 2022 (156)
87	14KJPN Submission ignored due to conflicting rows: Row 23083212 (NC_000003.12:15441489:T: 10790/28190) Row 23083213 (NC_000003.12:15441489:TT: 1346/28190) Row 23083214 (NC_000003.12:15441489:TTTTTTT: 6/28190)...	-	Oct 13, 2022 (156)
88	UK 10K study - Twins Submission ignored due to conflicting rows: Row 7805809 (NC_000003.11:15482997:T: 1939/3708) Row 7805810 (NC_000003.11:15482996:TTT: 1156/3708)	-	Oct 12, 2018 (152)
89	UK 10K study - Twins Submission ignored due to conflicting rows: Row 7805809 (NC_000003.11:15482997:T: 1939/3708) Row 7805810 (NC_000003.11:15482996:TTT: 1156/3708)	-	Oct 12, 2018 (152)
90	ALFA	NC_000003.12 - 15441490	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)
rs34923485	May 11, 2012 (137)
rs60043155	May 11, 2012 (137)
rs71895096	May 11, 2012 (137)
rs72329068	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
8008995102	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT	(self)
ss4066364358	NC_000003.12:15441489:TTTTTTTTTTTT:	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
8008995102	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
ss4066364357	NC_000003.12:15441489:TTTTTTTTTTT:	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss4066364356	NC_000003.12:15441489:TTTTTTTTTT:	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
8008995102	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss4066364355	NC_000003.12:15441489:TTTTTTTTT:	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
8008995102	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss5157937526	NC_000003.11:15482996:TTTTTTTT:	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss5689246112	NC_000003.12:15441489:TTTTTTTT:	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT
8008995102	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss5157937525	NC_000003.11:15482996:TTTTTTT:	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss4066364354, ss5689246110	NC_000003.12:15441489:TTTTTTT:	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
8008995102	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
8008995102	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss2991879525	NC_000003.11:15482996:TTTTT:	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4066364353	NC_000003.12:15441489:TTTTT:	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
8008995102	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4066364352	NC_000003.12:15441489:TTTT:	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
8008995102	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss1703523778, ss1703523785, ss5825388451	NC_000003.11:15482996:TTT:	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3065868718, ss4066364351, ss5253156480, ss5452645631	NC_000003.12:15441489:TTT:	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
8008995102	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss1997155397, ss5157937523, ss5825388450	NC_000003.11:15482996:TT:	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss1710068707, ss1710068720	NC_000003.11:15482997:TT:	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4066364350, ss5253156478, ss5452645630, ss5689246109	NC_000003.12:15441489:TT:	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
8008995102	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss80390972	NC_000003.9:15458021:T:	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss295089364	NC_000003.10:15458000:T:	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss295089365	NC_000003.10:15458021:T:	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss5157937522	NC_000003.11:15482996:T:	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
	NC_000003.11:15482997:T:	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss5452645629, ss5689246108	NC_000003.12:15441489:T:	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
8008995102	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss41994670	NT_022517.18:15422996:T:	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss95310989	NT_022517.18:15423017:T:	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss3827677140, ss5157937524	NC_000003.11:15482996::T	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4066364337, ss5253156479, ss5689246111	NC_000003.12:15441489::T	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
8008995102	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4066364338	NC_000003.12:15441489::TT	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
8008995102	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4066364339	NC_000003.12:15441489::TTT	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
8008995102	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4066364340	NC_000003.12:15441489::TTTT	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
8008995102	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4066364341	NC_000003.12:15441489::TTTTT	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4066364342	NC_000003.12:15441489::TTTTTT	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4066364343	NC_000003.12:15441489::TTTTTTT	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4066364344	NC_000003.12:15441489::TTTTTTTT	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4066364345	NC_000003.12:15441489::TTTTTTTTT	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4066364346	NC_000003.12:15441489::TTTTTTTTTT	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4066364347	NC_000003.12:15441489::TTTTTTTTTTT	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4066364348	NC_000003.12:15441489::TTTTTTTTTTT… NC_000003.12:15441489::TTTTTTTTTTTTTTT	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
8008995102	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4066364349	NC_000003.12:15441489::TTTTTTTTTTT… NC_000003.12:15441489::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000003.12:15441489:TTTTTTTTTTTT… NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(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 rs11343442

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

Placement	(T)₂₂=	del(T)₁₃	del(T)₁₂	del(T)₁₁	del(T)₁₀	del(T)₉	del(T)₈	del(T)₇	del(T)₆	del(T)₅	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅	dup(T)₆	dup(T)₇	dup(T)₈	dup(T)₉	dup(T)₁₀	dup(T)₁₁	dup(T)₁₅	dup(T)₂₂	ins(T)₃₆
GRCh38.p14 chr 3	NC_000003.12:g.15441490_15441511=	NC_000003.12:g.15441499_15441511del	NC_000003.12:g.15441500_15441511del	NC_000003.12:g.15441501_15441511del	NC_000003.12:g.15441502_15441511del	NC_000003.12:g.15441503_15441511del	NC_000003.12:g.15441504_15441511del	NC_000003.12:g.15441505_15441511del	NC_000003.12:g.15441506_15441511del	NC_000003.12:g.15441507_15441511del	NC_000003.12:g.15441508_15441511del	NC_000003.12:g.15441509_15441511del	NC_000003.12:g.15441510_15441511del	NC_000003.12:g.15441511del	NC_000003.12:g.15441511dup	NC_000003.12:g.15441510_15441511dup	NC_000003.12:g.15441509_15441511dup	NC_000003.12:g.15441508_15441511dup	NC_000003.12:g.15441507_15441511dup	NC_000003.12:g.15441506_15441511dup	NC_000003.12:g.15441505_15441511dup	NC_000003.12:g.15441504_15441511dup	NC_000003.12:g.15441503_15441511dup	NC_000003.12:g.15441502_15441511dup	NC_000003.12:g.15441501_15441511dup	NC_000003.12:g.15441497_15441511dup	NC_000003.12:g.15441490_15441511dup	NC_000003.12:g.15441511_15441512insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 3	NC_000003.11:g.15482997_15483018=	NC_000003.11:g.15483006_15483018del	NC_000003.11:g.15483007_15483018del	NC_000003.11:g.15483008_15483018del	NC_000003.11:g.15483009_15483018del	NC_000003.11:g.15483010_15483018del	NC_000003.11:g.15483011_15483018del	NC_000003.11:g.15483012_15483018del	NC_000003.11:g.15483013_15483018del	NC_000003.11:g.15483014_15483018del	NC_000003.11:g.15483015_15483018del	NC_000003.11:g.15483016_15483018del	NC_000003.11:g.15483017_15483018del	NC_000003.11:g.15483018del	NC_000003.11:g.15483018dup	NC_000003.11:g.15483017_15483018dup	NC_000003.11:g.15483016_15483018dup	NC_000003.11:g.15483015_15483018dup	NC_000003.11:g.15483014_15483018dup	NC_000003.11:g.15483013_15483018dup	NC_000003.11:g.15483012_15483018dup	NC_000003.11:g.15483011_15483018dup	NC_000003.11:g.15483010_15483018dup	NC_000003.11:g.15483009_15483018dup	NC_000003.11:g.15483008_15483018dup	NC_000003.11:g.15483004_15483018dup	NC_000003.11:g.15482997_15483018dup	NC_000003.11:g.15483018_15483019insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
EAF1 transcript	NM_033083.7:c.2335_2356=	NM_033083.7:c.2344_2356del	NM_033083.7:c.2345_2356del	NM_033083.7:c.2346_2356del	NM_033083.7:c.2347_2356del	NM_033083.7:c.2348_2356del	NM_033083.7:c.2349_2356del	NM_033083.7:c.2350_2356del	NM_033083.7:c.2351_2356del	NM_033083.7:c.2352_2356del	NM_033083.7:c.2353_2356del	NM_033083.7:c.2354_2356del	NM_033083.7:c.2355_2356del	NM_033083.7:c.*2356del	NM_033083.7:c.*2356dup	NM_033083.7:c.2355_2356dup	NM_033083.7:c.2354_2356dup	NM_033083.7:c.2353_2356dup	NM_033083.7:c.2352_2356dup	NM_033083.7:c.2351_2356dup	NM_033083.7:c.2350_2356dup	NM_033083.7:c.2349_2356dup	NM_033083.7:c.2348_2356dup	NM_033083.7:c.2347_2356dup	NM_033083.7:c.2346_2356dup	NM_033083.7:c.2342_2356dup	NM_033083.7:c.2335_2356dup	NM_033083.7:c.2356_2357insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
EAF1 transcript	NM_033083.6:c.2335_2356=	NM_033083.6:c.2344_2356del	NM_033083.6:c.2345_2356del	NM_033083.6:c.2346_2356del	NM_033083.6:c.2347_2356del	NM_033083.6:c.2348_2356del	NM_033083.6:c.2349_2356del	NM_033083.6:c.2350_2356del	NM_033083.6:c.2351_2356del	NM_033083.6:c.2352_2356del	NM_033083.6:c.2353_2356del	NM_033083.6:c.2354_2356del	NM_033083.6:c.2355_2356del	NM_033083.6:c.*2356del	NM_033083.6:c.*2356dup	NM_033083.6:c.2355_2356dup	NM_033083.6:c.2354_2356dup	NM_033083.6:c.2353_2356dup	NM_033083.6:c.2352_2356dup	NM_033083.6:c.2351_2356dup	NM_033083.6:c.2350_2356dup	NM_033083.6:c.2349_2356dup	NM_033083.6:c.2348_2356dup	NM_033083.6:c.2347_2356dup	NM_033083.6:c.2346_2356dup	NM_033083.6:c.2342_2356dup	NM_033083.6:c.2335_2356dup	NM_033083.6:c.2356_2357insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
EAF1 transcript variant X1	XM_011534165.2:c.2335_2356=	XM_011534165.2:c.2344_2356del	XM_011534165.2:c.2345_2356del	XM_011534165.2:c.2346_2356del	XM_011534165.2:c.2347_2356del	XM_011534165.2:c.2348_2356del	XM_011534165.2:c.2349_2356del	XM_011534165.2:c.2350_2356del	XM_011534165.2:c.2351_2356del	XM_011534165.2:c.2352_2356del	XM_011534165.2:c.2353_2356del	XM_011534165.2:c.2354_2356del	XM_011534165.2:c.2355_2356del	XM_011534165.2:c.*2356del	XM_011534165.2:c.*2356dup	XM_011534165.2:c.2355_2356dup	XM_011534165.2:c.2354_2356dup	XM_011534165.2:c.2353_2356dup	XM_011534165.2:c.2352_2356dup	XM_011534165.2:c.2351_2356dup	XM_011534165.2:c.2350_2356dup	XM_011534165.2:c.2349_2356dup	XM_011534165.2:c.2348_2356dup	XM_011534165.2:c.2347_2356dup	XM_011534165.2:c.2346_2356dup	XM_011534165.2:c.2342_2356dup	XM_011534165.2:c.2335_2356dup	XM_011534165.2:c.2356_2357insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
EAF1 transcript variant X2	XM_011534165.1:c.2335_2356=	XM_011534165.1:c.2344_2356del	XM_011534165.1:c.2345_2356del	XM_011534165.1:c.2346_2356del	XM_011534165.1:c.2347_2356del	XM_011534165.1:c.2348_2356del	XM_011534165.1:c.2349_2356del	XM_011534165.1:c.2350_2356del	XM_011534165.1:c.2351_2356del	XM_011534165.1:c.2352_2356del	XM_011534165.1:c.2353_2356del	XM_011534165.1:c.2354_2356del	XM_011534165.1:c.2355_2356del	XM_011534165.1:c.*2356del	XM_011534165.1:c.*2356dup	XM_011534165.1:c.2355_2356dup	XM_011534165.1:c.2354_2356dup	XM_011534165.1:c.2353_2356dup	XM_011534165.1:c.2352_2356dup	XM_011534165.1:c.2351_2356dup	XM_011534165.1:c.2350_2356dup	XM_011534165.1:c.2349_2356dup	XM_011534165.1:c.2348_2356dup	XM_011534165.1:c.2347_2356dup	XM_011534165.1:c.2346_2356dup	XM_011534165.1:c.2342_2356dup	XM_011534165.1:c.2335_2356dup	XM_011534165.1:c.2356_2357insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
EAF1 transcript variant X2	XM_011534166.2:c.2335_2356=	XM_011534166.2:c.2344_2356del	XM_011534166.2:c.2345_2356del	XM_011534166.2:c.2346_2356del	XM_011534166.2:c.2347_2356del	XM_011534166.2:c.2348_2356del	XM_011534166.2:c.2349_2356del	XM_011534166.2:c.2350_2356del	XM_011534166.2:c.2351_2356del	XM_011534166.2:c.2352_2356del	XM_011534166.2:c.2353_2356del	XM_011534166.2:c.2354_2356del	XM_011534166.2:c.2355_2356del	XM_011534166.2:c.*2356del	XM_011534166.2:c.*2356dup	XM_011534166.2:c.2355_2356dup	XM_011534166.2:c.2354_2356dup	XM_011534166.2:c.2353_2356dup	XM_011534166.2:c.2352_2356dup	XM_011534166.2:c.2351_2356dup	XM_011534166.2:c.2350_2356dup	XM_011534166.2:c.2349_2356dup	XM_011534166.2:c.2348_2356dup	XM_011534166.2:c.2347_2356dup	XM_011534166.2:c.2346_2356dup	XM_011534166.2:c.2342_2356dup	XM_011534166.2:c.2335_2356dup	XM_011534166.2:c.2356_2357insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
EAF1 transcript variant X3	XM_011534166.1:c.2335_2356=	XM_011534166.1:c.2344_2356del	XM_011534166.1:c.2345_2356del	XM_011534166.1:c.2346_2356del	XM_011534166.1:c.2347_2356del	XM_011534166.1:c.2348_2356del	XM_011534166.1:c.2349_2356del	XM_011534166.1:c.2350_2356del	XM_011534166.1:c.2351_2356del	XM_011534166.1:c.2352_2356del	XM_011534166.1:c.2353_2356del	XM_011534166.1:c.2354_2356del	XM_011534166.1:c.2355_2356del	XM_011534166.1:c.*2356del	XM_011534166.1:c.*2356dup	XM_011534166.1:c.2355_2356dup	XM_011534166.1:c.2354_2356dup	XM_011534166.1:c.2353_2356dup	XM_011534166.1:c.2352_2356dup	XM_011534166.1:c.2351_2356dup	XM_011534166.1:c.2350_2356dup	XM_011534166.1:c.2349_2356dup	XM_011534166.1:c.2348_2356dup	XM_011534166.1:c.2347_2356dup	XM_011534166.1:c.2346_2356dup	XM_011534166.1:c.2342_2356dup	XM_011534166.1:c.2335_2356dup	XM_011534166.1:c.2356_2357insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs11343442