Name: rs10540744
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.

rs10540744

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr14:80211776-80211804 (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)₁₇ / del(A)₁₆ / del(A)₁₅ / d…
del(A)₁₇ / del(A)₁₆ / del(A)₁₅ / 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)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₅ / dup(A)₉ / dup(A)₁₇ / dup(A)₁₈
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₁₇=0.0000 (0/3234, ALFA)
del(A)₁₆=0.0000 (0/3234, ALFA)
del(A)₁₅=0.0000 (0/3234, ALFA) (+ 17 more)
del(A)₁₄=0.0000 (0/3234, ALFA)
del(A)₁₃=0.0000 (0/3234, ALFA)
del(A)₁₂=0.0000 (0/3234, ALFA)
del(A)₁₁=0.0000 (0/3234, ALFA)
del(A)₁₀=0.0000 (0/3234, ALFA)
del(A)₉=0.0000 (0/3234, ALFA)
del(A)₈=0.0000 (0/3234, ALFA)
del(A)₇=0.0000 (0/3234, ALFA)
del(A)₆=0.0000 (0/3234, ALFA)
del(A)₅=0.0000 (0/3234, ALFA)
del(A)₄=0.0000 (0/3234, ALFA)
delAAA=0.0000 (0/3234, ALFA)
delAA=0.0000 (0/3234, ALFA)
delA=0.0000 (0/3234, ALFA)
dupA=0.0000 (0/3234, ALFA)
dupAA=0.0000 (0/3234, ALFA)
dupAAA=0.0000 (0/3234, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: DIO2 : Intron Variant
DIO2-AS1 : 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	HWEP
Total	Global	3234	AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
European	Sub	2386	AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African	Sub	390	AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
African Others	Sub	4	AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	N/A
African American	Sub	386	AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
Asian	Sub	46	AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
East Asian	Sub	38	AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other Asian	Sub	8	AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	N/A
Latin American 1	Sub	40	AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 2	Sub	236	AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
South Asian	Sub	30	AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other	Sub	106	AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	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	3234	(A)₂₉=1.0000	del(A)₁₇=0.0000, del(A)₁₆=0.0000, del(A)₁₅=0.0000, 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)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator	European	Sub	2386	(A)₂₉=1.0000	del(A)₁₇=0.0000, del(A)₁₆=0.0000, del(A)₁₅=0.0000, 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)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator	African	Sub	390	(A)₂₉=1.000	del(A)₁₇=0.000, del(A)₁₆=0.000, del(A)₁₅=0.000, 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)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Latin American 2	Sub	236	(A)₂₉=1.000	del(A)₁₇=0.000, del(A)₁₆=0.000, del(A)₁₅=0.000, 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)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Other	Sub	106	(A)₂₉=1.000	del(A)₁₇=0.000, del(A)₁₆=0.000, del(A)₁₅=0.000, 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)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Asian	Sub	46	(A)₂₉=1.00	del(A)₁₇=0.00, del(A)₁₆=0.00, del(A)₁₅=0.00, 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)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	Latin American 1	Sub	40	(A)₂₉=1.00	del(A)₁₇=0.00, del(A)₁₆=0.00, del(A)₁₅=0.00, 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)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	South Asian	Sub	30	(A)₂₉=1.00	del(A)₁₇=0.00, del(A)₁₆=0.00, del(A)₁₅=0.00, 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)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00

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 14	NC_000014.9:g.80211788_80211804del
GRCh38.p14 chr 14	NC_000014.9:g.80211789_80211804del
GRCh38.p14 chr 14	NC_000014.9:g.80211790_80211804del
GRCh38.p14 chr 14	NC_000014.9:g.80211791_80211804del
GRCh38.p14 chr 14	NC_000014.9:g.80211792_80211804del
GRCh38.p14 chr 14	NC_000014.9:g.80211793_80211804del
GRCh38.p14 chr 14	NC_000014.9:g.80211794_80211804del
GRCh38.p14 chr 14	NC_000014.9:g.80211795_80211804del
GRCh38.p14 chr 14	NC_000014.9:g.80211796_80211804del
GRCh38.p14 chr 14	NC_000014.9:g.80211797_80211804del
GRCh38.p14 chr 14	NC_000014.9:g.80211798_80211804del
GRCh38.p14 chr 14	NC_000014.9:g.80211799_80211804del
GRCh38.p14 chr 14	NC_000014.9:g.80211800_80211804del
GRCh38.p14 chr 14	NC_000014.9:g.80211801_80211804del
GRCh38.p14 chr 14	NC_000014.9:g.80211802_80211804del
GRCh38.p14 chr 14	NC_000014.9:g.80211803_80211804del
GRCh38.p14 chr 14	NC_000014.9:g.80211804del
GRCh38.p14 chr 14	NC_000014.9:g.80211804dup
GRCh38.p14 chr 14	NC_000014.9:g.80211803_80211804dup
GRCh38.p14 chr 14	NC_000014.9:g.80211802_80211804dup
GRCh38.p14 chr 14	NC_000014.9:g.80211800_80211804dup
GRCh38.p14 chr 14	NC_000014.9:g.80211796_80211804dup
GRCh38.p14 chr 14	NC_000014.9:g.80211788_80211804dup
GRCh38.p14 chr 14	NC_000014.9:g.80211787_80211804dup
GRCh37.p13 chr 14	NC_000014.8:g.80678131_80678147del
GRCh37.p13 chr 14	NC_000014.8:g.80678132_80678147del
GRCh37.p13 chr 14	NC_000014.8:g.80678133_80678147del
GRCh37.p13 chr 14	NC_000014.8:g.80678134_80678147del
GRCh37.p13 chr 14	NC_000014.8:g.80678135_80678147del
GRCh37.p13 chr 14	NC_000014.8:g.80678136_80678147del
GRCh37.p13 chr 14	NC_000014.8:g.80678137_80678147del
GRCh37.p13 chr 14	NC_000014.8:g.80678138_80678147del
GRCh37.p13 chr 14	NC_000014.8:g.80678139_80678147del
GRCh37.p13 chr 14	NC_000014.8:g.80678140_80678147del
GRCh37.p13 chr 14	NC_000014.8:g.80678141_80678147del
GRCh37.p13 chr 14	NC_000014.8:g.80678142_80678147del
GRCh37.p13 chr 14	NC_000014.8:g.80678143_80678147del
GRCh37.p13 chr 14	NC_000014.8:g.80678144_80678147del
GRCh37.p13 chr 14	NC_000014.8:g.80678145_80678147del
GRCh37.p13 chr 14	NC_000014.8:g.80678146_80678147del
GRCh37.p13 chr 14	NC_000014.8:g.80678147del
GRCh37.p13 chr 14	NC_000014.8:g.80678147dup
GRCh37.p13 chr 14	NC_000014.8:g.80678146_80678147dup
GRCh37.p13 chr 14	NC_000014.8:g.80678145_80678147dup
GRCh37.p13 chr 14	NC_000014.8:g.80678143_80678147dup
GRCh37.p13 chr 14	NC_000014.8:g.80678139_80678147dup
GRCh37.p13 chr 14	NC_000014.8:g.80678131_80678147dup
GRCh37.p13 chr 14	NC_000014.8:g.80678130_80678147dup

Gene: DIO2, iodothyronine deiodinase 2 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
DIO2 transcript variant 2	NM_000793.6:c.-53-267_-53… NM_000793.6:c.-53-267_-53-251del	N/A	Intron Variant
DIO2 transcript variant 3	NM_001324462.2:c.-54+42_-… NM_001324462.2:c.-54+42_-54+58del	N/A	Intron Variant
DIO2 transcript variant 1	NM_001366496.1:c.	N/A	Genic Upstream Transcript Variant
DIO2 transcript variant 1	NM_013989.5:c.	N/A	Genic Upstream Transcript Variant
DIO2 transcript variant 4	NR_158990.1:n.	N/A	Genic Upstream Transcript Variant
DIO2 transcript variant 5	NR_158991.1:n.	N/A	Genic Upstream Transcript Variant

Gene: DIO2-AS1, DIO2 antisense RNA 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
DIO2-AS1 transcript	NR_038355.1:n.	N/A	Intron Variant

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

Not Reported in ClinVar

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

Placement	(A)₂₉=	del(A)₁₇	del(A)₁₆	del(A)₁₅	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)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₅	dup(A)₉	dup(A)₁₇	dup(A)₁₈
GRCh38.p14 chr 14	NC_000014.9:g.80211776_80211804=	NC_000014.9:g.80211788_80211804del	NC_000014.9:g.80211789_80211804del	NC_000014.9:g.80211790_80211804del	NC_000014.9:g.80211791_80211804del	NC_000014.9:g.80211792_80211804del	NC_000014.9:g.80211793_80211804del	NC_000014.9:g.80211794_80211804del	NC_000014.9:g.80211795_80211804del	NC_000014.9:g.80211796_80211804del	NC_000014.9:g.80211797_80211804del	NC_000014.9:g.80211798_80211804del	NC_000014.9:g.80211799_80211804del	NC_000014.9:g.80211800_80211804del	NC_000014.9:g.80211801_80211804del	NC_000014.9:g.80211802_80211804del	NC_000014.9:g.80211803_80211804del	NC_000014.9:g.80211804del	NC_000014.9:g.80211804dup	NC_000014.9:g.80211803_80211804dup	NC_000014.9:g.80211802_80211804dup	NC_000014.9:g.80211800_80211804dup	NC_000014.9:g.80211796_80211804dup	NC_000014.9:g.80211788_80211804dup	NC_000014.9:g.80211787_80211804dup
GRCh37.p13 chr 14	NC_000014.8:g.80678119_80678147=	NC_000014.8:g.80678131_80678147del	NC_000014.8:g.80678132_80678147del	NC_000014.8:g.80678133_80678147del	NC_000014.8:g.80678134_80678147del	NC_000014.8:g.80678135_80678147del	NC_000014.8:g.80678136_80678147del	NC_000014.8:g.80678137_80678147del	NC_000014.8:g.80678138_80678147del	NC_000014.8:g.80678139_80678147del	NC_000014.8:g.80678140_80678147del	NC_000014.8:g.80678141_80678147del	NC_000014.8:g.80678142_80678147del	NC_000014.8:g.80678143_80678147del	NC_000014.8:g.80678144_80678147del	NC_000014.8:g.80678145_80678147del	NC_000014.8:g.80678146_80678147del	NC_000014.8:g.80678147del	NC_000014.8:g.80678147dup	NC_000014.8:g.80678146_80678147dup	NC_000014.8:g.80678145_80678147dup	NC_000014.8:g.80678143_80678147dup	NC_000014.8:g.80678139_80678147dup	NC_000014.8:g.80678131_80678147dup	NC_000014.8:g.80678130_80678147dup
DIO2 transcript variant 2	NM_000793.5:c.-53-251=	NM_000793.5:c.-53-267_-53-251del	NM_000793.5:c.-53-266_-53-251del	NM_000793.5:c.-53-265_-53-251del	NM_000793.5:c.-53-264_-53-251del	NM_000793.5:c.-53-263_-53-251del	NM_000793.5:c.-53-262_-53-251del	NM_000793.5:c.-53-261_-53-251del	NM_000793.5:c.-53-260_-53-251del	NM_000793.5:c.-53-259_-53-251del	NM_000793.5:c.-53-258_-53-251del	NM_000793.5:c.-53-257_-53-251del	NM_000793.5:c.-53-256_-53-251del	NM_000793.5:c.-53-255_-53-251del	NM_000793.5:c.-53-254_-53-251del	NM_000793.5:c.-53-253_-53-251del	NM_000793.5:c.-53-252_-53-251del	NM_000793.5:c.-53-251del	NM_000793.5:c.-53-251dup	NM_000793.5:c.-53-252_-53-251dup	NM_000793.5:c.-53-253_-53-251dup	NM_000793.5:c.-53-255_-53-251dup	NM_000793.5:c.-53-259_-53-251dup	NM_000793.5:c.-53-267_-53-251dup	NM_000793.5:c.-53-268_-53-251dup
DIO2 transcript variant 2	NM_000793.6:c.-53-251=	NM_000793.6:c.-53-267_-53-251del	NM_000793.6:c.-53-266_-53-251del	NM_000793.6:c.-53-265_-53-251del	NM_000793.6:c.-53-264_-53-251del	NM_000793.6:c.-53-263_-53-251del	NM_000793.6:c.-53-262_-53-251del	NM_000793.6:c.-53-261_-53-251del	NM_000793.6:c.-53-260_-53-251del	NM_000793.6:c.-53-259_-53-251del	NM_000793.6:c.-53-258_-53-251del	NM_000793.6:c.-53-257_-53-251del	NM_000793.6:c.-53-256_-53-251del	NM_000793.6:c.-53-255_-53-251del	NM_000793.6:c.-53-254_-53-251del	NM_000793.6:c.-53-253_-53-251del	NM_000793.6:c.-53-252_-53-251del	NM_000793.6:c.-53-251del	NM_000793.6:c.-53-251dup	NM_000793.6:c.-53-252_-53-251dup	NM_000793.6:c.-53-253_-53-251dup	NM_000793.6:c.-53-255_-53-251dup	NM_000793.6:c.-53-259_-53-251dup	NM_000793.6:c.-53-267_-53-251dup	NM_000793.6:c.-53-268_-53-251dup
DIO2 transcript variant 3	NM_001324462.2:c.-54+58=	NM_001324462.2:c.-54+42_-54+58del	NM_001324462.2:c.-54+43_-54+58del	NM_001324462.2:c.-54+44_-54+58del	NM_001324462.2:c.-54+45_-54+58del	NM_001324462.2:c.-54+46_-54+58del	NM_001324462.2:c.-54+47_-54+58del	NM_001324462.2:c.-54+48_-54+58del	NM_001324462.2:c.-54+49_-54+58del	NM_001324462.2:c.-54+50_-54+58del	NM_001324462.2:c.-54+51_-54+58del	NM_001324462.2:c.-54+52_-54+58del	NM_001324462.2:c.-54+53_-54+58del	NM_001324462.2:c.-54+54_-54+58del	NM_001324462.2:c.-54+55_-54+58del	NM_001324462.2:c.-54+56_-54+58del	NM_001324462.2:c.-54+57_-54+58del	NM_001324462.2:c.-54+58del	NM_001324462.2:c.-54+58dup	NM_001324462.2:c.-54+57_-54+58dup	NM_001324462.2:c.-54+56_-54+58dup	NM_001324462.2:c.-54+54_-54+58dup	NM_001324462.2:c.-54+50_-54+58dup	NM_001324462.2:c.-54+42_-54+58dup	NM_001324462.2:c.-54+41_-54+58dup

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#.

42 SubSNP, 33 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss40513869	Mar 14, 2006 (126)
2	HGSV	ss78011552	Dec 07, 2007 (129)
3	HUMANGENOME_JCVI	ss95646953	Feb 05, 2009 (130)
4	EVA_UK10K_ALSPAC	ss1708136974	Apr 01, 2015 (144)
5	EVA_UK10K_TWINSUK	ss1708137339	Apr 01, 2015 (144)
6	EVA_UK10K_TWINSUK	ss1710646386	Apr 01, 2015 (144)
7	EVA_UK10K_ALSPAC	ss1710646393	Apr 01, 2015 (144)
8	SWEGEN	ss3012527146	Nov 08, 2017 (151)
9	ACPOP	ss3740558987	Jul 13, 2019 (153)
10	ACPOP	ss3740558988	Jul 13, 2019 (153)
11	PACBIO	ss3792751223	Jul 13, 2019 (153)
12	PACBIO	ss3797635618	Jul 13, 2019 (153)
13	GNOMAD	ss4281486753	Apr 26, 2021 (155)
14	GNOMAD	ss4281486754	Apr 26, 2021 (155)
15	GNOMAD	ss4281486755	Apr 26, 2021 (155)
16	GNOMAD	ss4281486756	Apr 26, 2021 (155)
17	GNOMAD	ss4281486757	Apr 26, 2021 (155)
18	GNOMAD	ss4281486758	Apr 26, 2021 (155)
19	GNOMAD	ss4281486759	Apr 26, 2021 (155)
20	GNOMAD	ss4281486760	Apr 26, 2021 (155)
21	GNOMAD	ss4281486761	Apr 26, 2021 (155)
22	GNOMAD	ss4281486762	Apr 26, 2021 (155)
23	GNOMAD	ss4281486763	Apr 26, 2021 (155)
24	GNOMAD	ss4281486764	Apr 26, 2021 (155)
25	GNOMAD	ss4281486765	Apr 26, 2021 (155)
26	GNOMAD	ss4281486766	Apr 26, 2021 (155)
27	GNOMAD	ss4281486767	Apr 26, 2021 (155)
28	GNOMAD	ss4281486768	Apr 26, 2021 (155)
29	TOMMO_GENOMICS	ss5214136268	Apr 26, 2021 (155)
30	TOMMO_GENOMICS	ss5214136269	Apr 26, 2021 (155)
31	TOMMO_GENOMICS	ss5214136270	Apr 26, 2021 (155)
32	TOMMO_GENOMICS	ss5214136271	Apr 26, 2021 (155)
33	TOMMO_GENOMICS	ss5214136272	Apr 26, 2021 (155)
34	HUGCELL_USP	ss5490898096	Oct 16, 2022 (156)
35	HUGCELL_USP	ss5490898097	Oct 16, 2022 (156)
36	TOMMO_GENOMICS	ss5767203968	Oct 16, 2022 (156)
37	TOMMO_GENOMICS	ss5767203970	Oct 16, 2022 (156)
38	TOMMO_GENOMICS	ss5767203971	Oct 16, 2022 (156)
39	TOMMO_GENOMICS	ss5767203972	Oct 16, 2022 (156)
40	TOMMO_GENOMICS	ss5767203973	Oct 16, 2022 (156)
41	EVA	ss5841386675	Oct 16, 2022 (156)
42	EVA	ss5841386676	Oct 16, 2022 (156)
43	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 36017949 (NC_000014.8:80678119:A: 1333/3854) Row 36017950 (NC_000014.8:80678118:AAA: 1262/3854)	-	Oct 12, 2018 (152)
44	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 36017949 (NC_000014.8:80678119:A: 1333/3854) Row 36017950 (NC_000014.8:80678118:AAA: 1262/3854)	-	Oct 12, 2018 (152)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 456934865 (NC_000014.9:80211775::A 37/5328) Row 456934866 (NC_000014.9:80211775::AAA 2/5324) Row 456934867 (NC_000014.9:80211775::AAAAA 1/5324)...	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 456934865 (NC_000014.9:80211775::A 37/5328) Row 456934866 (NC_000014.9:80211775::AAA 2/5324) Row 456934867 (NC_000014.9:80211775::AAAAA 1/5324)...	-	Apr 26, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 456934865 (NC_000014.9:80211775::A 37/5328) Row 456934866 (NC_000014.9:80211775::AAA 2/5324) Row 456934867 (NC_000014.9:80211775::AAAAA 1/5324)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 456934865 (NC_000014.9:80211775::A 37/5328) Row 456934866 (NC_000014.9:80211775::AAA 2/5324) Row 456934867 (NC_000014.9:80211775::AAAAA 1/5324)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 456934865 (NC_000014.9:80211775::A 37/5328) Row 456934866 (NC_000014.9:80211775::AAA 2/5324) Row 456934867 (NC_000014.9:80211775::AAAAA 1/5324)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 456934865 (NC_000014.9:80211775::A 37/5328) Row 456934866 (NC_000014.9:80211775::AAA 2/5324) Row 456934867 (NC_000014.9:80211775::AAAAA 1/5324)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 456934865 (NC_000014.9:80211775::A 37/5328) Row 456934866 (NC_000014.9:80211775::AAA 2/5324) Row 456934867 (NC_000014.9:80211775::AAAAA 1/5324)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 456934865 (NC_000014.9:80211775::A 37/5328) Row 456934866 (NC_000014.9:80211775::AAA 2/5324) Row 456934867 (NC_000014.9:80211775::AAAAA 1/5324)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 456934865 (NC_000014.9:80211775::A 37/5328) Row 456934866 (NC_000014.9:80211775::AAA 2/5324) Row 456934867 (NC_000014.9:80211775::AAAAA 1/5324)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 456934865 (NC_000014.9:80211775::A 37/5328) Row 456934866 (NC_000014.9:80211775::AAA 2/5324) Row 456934867 (NC_000014.9:80211775::AAAAA 1/5324)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 456934865 (NC_000014.9:80211775::A 37/5328) Row 456934866 (NC_000014.9:80211775::AAA 2/5324) Row 456934867 (NC_000014.9:80211775::AAAAA 1/5324)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 456934865 (NC_000014.9:80211775::A 37/5328) Row 456934866 (NC_000014.9:80211775::AAA 2/5324) Row 456934867 (NC_000014.9:80211775::AAAAA 1/5324)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 456934865 (NC_000014.9:80211775::A 37/5328) Row 456934866 (NC_000014.9:80211775::AAA 2/5324) Row 456934867 (NC_000014.9:80211775::AAAAA 1/5324)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 456934865 (NC_000014.9:80211775::A 37/5328) Row 456934866 (NC_000014.9:80211775::AAA 2/5324) Row 456934867 (NC_000014.9:80211775::AAAAA 1/5324)...	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 456934865 (NC_000014.9:80211775::A 37/5328) Row 456934866 (NC_000014.9:80211775::AAA 2/5324) Row 456934867 (NC_000014.9:80211775::AAAAA 1/5324)...	-	Apr 26, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 456934865 (NC_000014.9:80211775::A 37/5328) Row 456934866 (NC_000014.9:80211775::AAA 2/5324) Row 456934867 (NC_000014.9:80211775::AAAAA 1/5324)...	-	Apr 26, 2021 (155)
61	Northern Sweden Submission ignored due to conflicting rows: Row 13843852 (NC_000014.8:80678118::AAAAAAAAAAAAAAAAA 2/32) Row 13843853 (NC_000014.8:80678118::AAAAAAAAAAAAAAAAAA 4/32)	-	Jul 13, 2019 (153)
62	Northern Sweden Submission ignored due to conflicting rows: Row 13843852 (NC_000014.8:80678118::AAAAAAAAAAAAAAAAA 2/32) Row 13843853 (NC_000014.8:80678118::AAAAAAAAAAAAAAAAAA 4/32)	-	Jul 13, 2019 (153)
63	8.3KJPN Submission ignored due to conflicting rows: Row 72105575 (NC_000014.8:80678118:AA: 956/13854) Row 72105576 (NC_000014.8:80678118:A: 449/13854) Row 72105577 (NC_000014.8:80678118::A 169/13854)...	-	Apr 26, 2021 (155)
64	8.3KJPN Submission ignored due to conflicting rows: Row 72105575 (NC_000014.8:80678118:AA: 956/13854) Row 72105576 (NC_000014.8:80678118:A: 449/13854) Row 72105577 (NC_000014.8:80678118::A 169/13854)...	-	Apr 26, 2021 (155)
65	8.3KJPN Submission ignored due to conflicting rows: Row 72105575 (NC_000014.8:80678118:AA: 956/13854) Row 72105576 (NC_000014.8:80678118:A: 449/13854) Row 72105577 (NC_000014.8:80678118::A 169/13854)...	-	Apr 26, 2021 (155)
66	8.3KJPN Submission ignored due to conflicting rows: Row 72105575 (NC_000014.8:80678118:AA: 956/13854) Row 72105576 (NC_000014.8:80678118:A: 449/13854) Row 72105577 (NC_000014.8:80678118::A 169/13854)...	-	Apr 26, 2021 (155)
67	8.3KJPN Submission ignored due to conflicting rows: Row 72105575 (NC_000014.8:80678118:AA: 956/13854) Row 72105576 (NC_000014.8:80678118:A: 449/13854) Row 72105577 (NC_000014.8:80678118::A 169/13854)...	-	Apr 26, 2021 (155)
68	14KJPN Submission ignored due to conflicting rows: Row 101041072 (NC_000014.9:80211775:AA: 3892/26544) Row 101041074 (NC_000014.9:80211775:A: 1791/26544) Row 101041075 (NC_000014.9:80211775::A 776/26544)...	-	Oct 16, 2022 (156)
69	14KJPN Submission ignored due to conflicting rows: Row 101041072 (NC_000014.9:80211775:AA: 3892/26544) Row 101041074 (NC_000014.9:80211775:A: 1791/26544) Row 101041075 (NC_000014.9:80211775::A 776/26544)...	-	Oct 16, 2022 (156)
70	14KJPN Submission ignored due to conflicting rows: Row 101041072 (NC_000014.9:80211775:AA: 3892/26544) Row 101041074 (NC_000014.9:80211775:A: 1791/26544) Row 101041075 (NC_000014.9:80211775::A 776/26544)...	-	Oct 16, 2022 (156)
71	14KJPN Submission ignored due to conflicting rows: Row 101041072 (NC_000014.9:80211775:AA: 3892/26544) Row 101041074 (NC_000014.9:80211775:A: 1791/26544) Row 101041075 (NC_000014.9:80211775::A 776/26544)...	-	Oct 16, 2022 (156)
72	14KJPN Submission ignored due to conflicting rows: Row 101041072 (NC_000014.9:80211775:AA: 3892/26544) Row 101041074 (NC_000014.9:80211775:A: 1791/26544) Row 101041075 (NC_000014.9:80211775::A 776/26544)...	-	Oct 16, 2022 (156)
73	UK 10K study - Twins Submission ignored due to conflicting rows: Row 36017949 (NC_000014.8:80678119:A: 1317/3708) Row 36017950 (NC_000014.8:80678118:AAA: 1212/3708)	-	Oct 12, 2018 (152)
74	UK 10K study - Twins Submission ignored due to conflicting rows: Row 36017949 (NC_000014.8:80678119:A: 1317/3708) Row 36017950 (NC_000014.8:80678118:AAA: 1212/3708)	-	Oct 12, 2018 (152)
75	ALFA	NC_000014.9 - 80211776	Apr 26, 2021 (155)

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

Associated ID	History Updated (Build)
rs35993093	May 23, 2006 (127)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4281486768	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAA:	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
11390863191	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4281486767	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAA:	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
11390863191	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4281486766	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAA:	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
11390863191	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4281486765	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAA:	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
11390863191	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4281486764	NC_000014.9:80211775:AAAAAAAAAAAAA:	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
11390863191	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4281486763	NC_000014.9:80211775:AAAAAAAAAAAA:	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
11390863191	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4281486762	NC_000014.9:80211775:AAAAAAAAAAA:	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
11390863191	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4281486761	NC_000014.9:80211775:AAAAAAAAAA:	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
11390863191	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
11390863191	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
11390863191	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
11390863191	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
11390863191	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4281486760	NC_000014.9:80211775:AAAAA:	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
11390863191	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4281486759, ss5490898097	NC_000014.9:80211775:AAAA:	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
11390863191	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss1708136974, ss1708137339, ss5214136271, ss5841386676	NC_000014.8:80678118:AAA:	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4281486758, ss5767203972	NC_000014.9:80211775:AAA:	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
11390863191	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3012527146, ss5214136268, ss5841386675	NC_000014.8:80678118:AA:	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss1710646386, ss1710646393	NC_000014.8:80678119:AA:	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4281486757, ss5767203968	NC_000014.9:80211775:AA:	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
11390863191	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss78011552	NC_000014.7:79747899:A:	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3792751223, ss3797635618, ss5214136269	NC_000014.8:80678118:A:	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
	NC_000014.8:80678119:A:	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5490898096, ss5767203970	NC_000014.9:80211775:A:	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
11390863191	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss40513869	NT_026437.12:61678118:A:	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss95646953	NT_026437.12:61678146:A:	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5214136270	NC_000014.8:80678118::A	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4281486753, ss5767203971	NC_000014.9:80211775::A	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
11390863191	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5214136272	NC_000014.8:80678118::AA	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5767203973	NC_000014.9:80211775::AA	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
11390863191	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4281486754	NC_000014.9:80211775::AAA	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
11390863191	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4281486755	NC_000014.9:80211775::AAAAA	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4281486756	NC_000014.9:80211775::AAAAAAAAA	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3740558987	NC_000014.8:80678118::AAAAAAAAAAAA… NC_000014.8:80678118::AAAAAAAAAAAAAAAAA	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3740558988	NC_000014.8:80678118::AAAAAAAAAAAA… NC_000014.8:80678118::AAAAAAAAAAAAAAAAAA	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI
ss3216373479	NC_000014.9:80211775:AAAAAA:	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
ss3216373480	NC_000014.9:80211775:AAAAAAA:	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
ss3216373481	NC_000014.9:80211775:AAAAAAAA:	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
ss3216373482	NC_000014.9:80211775:AAAAAAAAA:	NC_000014.9:80211775:AAAAAAAAAAAAA… NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

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

No publications for rs10540744

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

rs10540744