Name: rs749249208
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.

rs749249208

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:112731918-112731940 (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)₉ / de…
del(T)₁₃ / del(T)₁₂ / 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)₁₈ / ins(T)₂₇ / ins(T)₃₂ / ins(T)₄₁
Variation Type: Indel Insertion and Deletion
Frequency: dupT=0.00661 (116/17552, ALFA)
(T)₂₃=0.38 (15/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: NT5DC4 : Intron Variant
Publications: 0 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	17552	TTTTTTTTTTTTTTTTTTTTTTT=0.98655	TTTTTTTTTT=0.00000, TTTTTTTTTTT=0.00000, TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTT=0.00120, TTTTTTTTTTTTTTTTTTTTTTTT=0.00661, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00484, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00017, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00063, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00000	0.987383	0.000579	0.012038	31
European	Sub	13798	TTTTTTTTTTTTTTTTTTTTTTT=0.98290	TTTTTTTTTT=0.00000, TTTTTTTTTTT=0.00000, TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTT=0.00152, TTTTTTTTTTTTTTTTTTTTTTTT=0.00841, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00616, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00022, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00080, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00000	0.983881	0.000739	0.01538	23
African	Sub	2398	TTTTTTTTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	92	TTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTT=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, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	2306	TTTTTTTTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	96	TTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTT=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, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	76	TTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTT=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, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	20	TTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTT=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, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	136	TTTTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTT=0.000, TTTTTTTTTTT=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, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	586	TTTTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTT=0.000, TTTTTTTTTTT=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, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	90	TTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTT=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, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	448	TTTTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTT=0.000, TTTTTTTTTTT=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, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	17552	(T)₂₃=0.98655	del(T)₁₃=0.00000, del(T)₁₂=0.00000, del(T)₉=0.00000, del(T)₈=0.00000, del(T)₇=0.00000, del(T)₆=0.00000, del(T)₅=0.00000, del(T)₄=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.00120, dupT=0.00661, dupTT=0.00484, dupTTT=0.00000, dup(T)₄=0.00000, dup(T)₅=0.00000, dup(T)₈=0.00063, ins(T)₂₇=0.00017
Allele Frequency Aggregator	European	Sub	13798	(T)₂₃=0.98290	del(T)₁₃=0.00000, del(T)₁₂=0.00000, del(T)₉=0.00000, del(T)₈=0.00000, del(T)₇=0.00000, del(T)₆=0.00000, del(T)₅=0.00000, del(T)₄=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.00152, dupT=0.00841, dupTT=0.00616, dupTTT=0.00000, dup(T)₄=0.00000, dup(T)₅=0.00000, dup(T)₈=0.00080, ins(T)₂₇=0.00022
Allele Frequency Aggregator	African	Sub	2398	(T)₂₃=1.0000	del(T)₁₃=0.0000, del(T)₁₂=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=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000, dup(T)₄=0.0000, dup(T)₅=0.0000, dup(T)₈=0.0000, ins(T)₂₇=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	586	(T)₂₃=1.000	del(T)₁₃=0.000, del(T)₁₂=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)₅=0.000, dup(T)₈=0.000, ins(T)₂₇=0.000
Allele Frequency Aggregator	Other	Sub	448	(T)₂₃=1.000	del(T)₁₃=0.000, del(T)₁₂=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)₅=0.000, dup(T)₈=0.000, ins(T)₂₇=0.000
Allele Frequency Aggregator	Latin American 1	Sub	136	(T)₂₃=1.000	del(T)₁₃=0.000, del(T)₁₂=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)₅=0.000, dup(T)₈=0.000, ins(T)₂₇=0.000
Allele Frequency Aggregator	Asian	Sub	96	(T)₂₃=1.00	del(T)₁₃=0.00, del(T)₁₂=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)₅=0.00, dup(T)₈=0.00, ins(T)₂₇=0.00
Allele Frequency Aggregator	South Asian	Sub	90	(T)₂₃=1.00	del(T)₁₃=0.00, del(T)₁₂=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)₅=0.00, dup(T)₈=0.00, ins(T)₂₇=0.00
The Danish reference pan genome	Danish	Study-wide	40	- No frequency provided	dupT=0.62

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

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 2	NC_000002.12:g.112731928_112731940del
GRCh38.p14 chr 2	NC_000002.12:g.112731929_112731940del
GRCh38.p14 chr 2	NC_000002.12:g.112731932_112731940del
GRCh38.p14 chr 2	NC_000002.12:g.112731933_112731940del
GRCh38.p14 chr 2	NC_000002.12:g.112731934_112731940del
GRCh38.p14 chr 2	NC_000002.12:g.112731935_112731940del
GRCh38.p14 chr 2	NC_000002.12:g.112731936_112731940del
GRCh38.p14 chr 2	NC_000002.12:g.112731937_112731940del
GRCh38.p14 chr 2	NC_000002.12:g.112731938_112731940del
GRCh38.p14 chr 2	NC_000002.12:g.112731939_112731940del
GRCh38.p14 chr 2	NC_000002.12:g.112731940del
GRCh38.p14 chr 2	NC_000002.12:g.112731940dup
GRCh38.p14 chr 2	NC_000002.12:g.112731939_112731940dup
GRCh38.p14 chr 2	NC_000002.12:g.112731938_112731940dup
GRCh38.p14 chr 2	NC_000002.12:g.112731937_112731940dup
GRCh38.p14 chr 2	NC_000002.12:g.112731936_112731940dup
GRCh38.p14 chr 2	NC_000002.12:g.112731935_112731940dup
GRCh38.p14 chr 2	NC_000002.12:g.112731934_112731940dup
GRCh38.p14 chr 2	NC_000002.12:g.112731933_112731940dup
GRCh38.p14 chr 2	NC_000002.12:g.112731932_112731940dup
GRCh38.p14 chr 2	NC_000002.12:g.112731923_112731940dup
GRCh38.p14 chr 2	NC_000002.12:g.112731940_112731941insTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 2	NC_000002.12:g.112731940_112731941insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 2	NC_000002.12:g.112731940_112731941insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 2	NC_000002.11:g.113489505_113489517del
GRCh37.p13 chr 2	NC_000002.11:g.113489506_113489517del
GRCh37.p13 chr 2	NC_000002.11:g.113489509_113489517del
GRCh37.p13 chr 2	NC_000002.11:g.113489510_113489517del
GRCh37.p13 chr 2	NC_000002.11:g.113489511_113489517del
GRCh37.p13 chr 2	NC_000002.11:g.113489512_113489517del
GRCh37.p13 chr 2	NC_000002.11:g.113489513_113489517del
GRCh37.p13 chr 2	NC_000002.11:g.113489514_113489517del
GRCh37.p13 chr 2	NC_000002.11:g.113489515_113489517del
GRCh37.p13 chr 2	NC_000002.11:g.113489516_113489517del
GRCh37.p13 chr 2	NC_000002.11:g.113489517del
GRCh37.p13 chr 2	NC_000002.11:g.113489517dup
GRCh37.p13 chr 2	NC_000002.11:g.113489516_113489517dup
GRCh37.p13 chr 2	NC_000002.11:g.113489515_113489517dup
GRCh37.p13 chr 2	NC_000002.11:g.113489514_113489517dup
GRCh37.p13 chr 2	NC_000002.11:g.113489513_113489517dup
GRCh37.p13 chr 2	NC_000002.11:g.113489512_113489517dup
GRCh37.p13 chr 2	NC_000002.11:g.113489511_113489517dup
GRCh37.p13 chr 2	NC_000002.11:g.113489510_113489517dup
GRCh37.p13 chr 2	NC_000002.11:g.113489509_113489517dup
GRCh37.p13 chr 2	NC_000002.11:g.113489500_113489517dup
GRCh37.p13 chr 2	NC_000002.11:g.113489517_113489518insTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 2	NC_000002.11:g.113489517_113489518insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 2	NC_000002.11:g.113489517_113489518insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Gene: NT5DC4, 5'-nucleotidase domain containing 4 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NT5DC4 transcript variant 2	NM_001350494.2:c.1248+222… NM_001350494.2:c.1248+2224_1248+2236del	N/A	Intron Variant
NT5DC4 transcript variant 1	NM_001393655.1:c.1344+222… NM_001393655.1:c.1344+2224_1344+2236del	N/A	Intron Variant
NT5DC4 transcript variant X2	XM_011512262.3:c.1536+222… XM_011512262.3:c.1536+2224_1536+2236del	N/A	Intron Variant
NT5DC4 transcript variant X24	XM_011512265.3:c.915+2224… XM_011512265.3:c.915+2224_915+2236del	N/A	Intron Variant
NT5DC4 transcript variant X4	XM_017005474.2:c.1518+222… XM_017005474.2:c.1518+2224_1518+2236del	N/A	Intron Variant
NT5DC4 transcript variant X14	XM_017005475.1:c.1518+222… XM_017005475.1:c.1518+2224_1518+2236del	N/A	Intron Variant
NT5DC4 transcript variant X17	XM_017005476.2:c.1344+222… XM_017005476.2:c.1344+2224_1344+2236del	N/A	Intron Variant
NT5DC4 transcript variant X18	XM_017005477.2:c.1272+222… XM_017005477.2:c.1272+2224_1272+2236del	N/A	Intron Variant
NT5DC4 transcript variant X20	XM_017005478.2:c.1215+222… XM_017005478.2:c.1215+2224_1215+2236del	N/A	Intron Variant
NT5DC4 transcript variant X1	XM_024452799.2:c.1551+222… XM_024452799.2:c.1551+2224_1551+2236del	N/A	Intron Variant
NT5DC4 transcript variant X3	XM_024452800.2:c.1533+222… XM_024452800.2:c.1533+2224_1533+2236del	N/A	Intron Variant
NT5DC4 transcript variant X10	XM_024452802.2:c.1551+222… XM_024452802.2:c.1551+2224_1551+2236del	N/A	Intron Variant
NT5DC4 transcript variant X11	XM_024452803.2:c.1425+222… XM_024452803.2:c.1425+2224_1425+2236del	N/A	Intron Variant
NT5DC4 transcript variant X12	XM_024452804.2:c.1551+222… XM_024452804.2:c.1551+2224_1551+2236del	N/A	Intron Variant
NT5DC4 transcript variant X13	XM_024452805.2:c.1552-163… XM_024452805.2:c.1552-1631_1552-1619del	N/A	Intron Variant
NT5DC4 transcript variant X16	XM_024452807.2:c.1380+222… XM_024452807.2:c.1380+2224_1380+2236del	N/A	Intron Variant
NT5DC4 transcript variant X19	XM_024452808.2:c.1254+222… XM_024452808.2:c.1254+2224_1254+2236del	N/A	Intron Variant
NT5DC4 transcript variant X15	XM_024452806.2:c.	N/A	Genic Downstream Transcript Variant
NT5DC4 transcript variant X26	XM_024452809.1:c.	N/A	Genic Downstream Transcript Variant
NT5DC4 transcript variant X28	XM_024452810.1:c.	N/A	Genic Downstream Transcript Variant
NT5DC4 transcript variant X21	XM_047443973.1:c.	N/A	Genic Downstream Transcript Variant
NT5DC4 transcript variant X30	XM_047443974.1:c.	N/A	Genic Downstream Transcript Variant
NT5DC4 transcript variant X6	XR_002959268.2:n.	N/A	Intron Variant
NT5DC4 transcript variant X7	XR_002959269.2:n.	N/A	Intron Variant
NT5DC4 transcript variant X8	XR_002959270.1:n.	N/A	Intron Variant
NT5DC4 transcript variant X9	XR_001739644.2:n.	N/A	Genic Downstream Transcript Variant
NT5DC4 transcript variant X5	XR_002959267.2:n.	N/A	Genic Downstream Transcript Variant
NT5DC4 transcript variant X22	XR_002959272.1:n.	N/A	Genic Downstream Transcript Variant
NT5DC4 transcript variant X23	XR_002959273.1:n.	N/A	Genic Downstream Transcript Variant
NT5DC4 transcript variant X25	XR_002959274.1:n.	N/A	Genic Downstream Transcript Variant
NT5DC4 transcript variant X27	XR_002959275.1:n.	N/A	Genic Downstream Transcript Variant
NT5DC4 transcript variant X29	XR_002959276.1:n.	N/A	Genic Downstream Transcript 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)₂₃=	del(T)₁₃	del(T)₁₂	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)₁₈	ins(T)₂₇	ins(T)₃₂	ins(T)₄₁
GRCh38.p14 chr 2	NC_000002.12:g.112731918_112731940=	NC_000002.12:g.112731928_112731940del	NC_000002.12:g.112731929_112731940del	NC_000002.12:g.112731932_112731940del	NC_000002.12:g.112731933_112731940del	NC_000002.12:g.112731934_112731940del	NC_000002.12:g.112731935_112731940del	NC_000002.12:g.112731936_112731940del	NC_000002.12:g.112731937_112731940del	NC_000002.12:g.112731938_112731940del	NC_000002.12:g.112731939_112731940del	NC_000002.12:g.112731940del	NC_000002.12:g.112731940dup	NC_000002.12:g.112731939_112731940dup	NC_000002.12:g.112731938_112731940dup	NC_000002.12:g.112731937_112731940dup	NC_000002.12:g.112731936_112731940dup	NC_000002.12:g.112731935_112731940dup	NC_000002.12:g.112731934_112731940dup	NC_000002.12:g.112731933_112731940dup	NC_000002.12:g.112731932_112731940dup	NC_000002.12:g.112731923_112731940dup	NC_000002.12:g.112731940_112731941insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000002.12:g.112731940_112731941insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000002.12:g.112731940_112731941insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 2	NC_000002.11:g.113489495_113489517=	NC_000002.11:g.113489505_113489517del	NC_000002.11:g.113489506_113489517del	NC_000002.11:g.113489509_113489517del	NC_000002.11:g.113489510_113489517del	NC_000002.11:g.113489511_113489517del	NC_000002.11:g.113489512_113489517del	NC_000002.11:g.113489513_113489517del	NC_000002.11:g.113489514_113489517del	NC_000002.11:g.113489515_113489517del	NC_000002.11:g.113489516_113489517del	NC_000002.11:g.113489517del	NC_000002.11:g.113489517dup	NC_000002.11:g.113489516_113489517dup	NC_000002.11:g.113489515_113489517dup	NC_000002.11:g.113489514_113489517dup	NC_000002.11:g.113489513_113489517dup	NC_000002.11:g.113489512_113489517dup	NC_000002.11:g.113489511_113489517dup	NC_000002.11:g.113489510_113489517dup	NC_000002.11:g.113489509_113489517dup	NC_000002.11:g.113489500_113489517dup	NC_000002.11:g.113489517_113489518insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000002.11:g.113489517_113489518insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000002.11:g.113489517_113489518insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NT5DC4 transcript variant 2	NM_001350494.2:c.1248+2214=	NM_001350494.2:c.1248+2224_1248+2236del	NM_001350494.2:c.1248+2225_1248+2236del	NM_001350494.2:c.1248+2228_1248+2236del	NM_001350494.2:c.1248+2229_1248+2236del	NM_001350494.2:c.1248+2230_1248+2236del	NM_001350494.2:c.1248+2231_1248+2236del	NM_001350494.2:c.1248+2232_1248+2236del	NM_001350494.2:c.1248+2233_1248+2236del	NM_001350494.2:c.1248+2234_1248+2236del	NM_001350494.2:c.1248+2235_1248+2236del	NM_001350494.2:c.1248+2236del	NM_001350494.2:c.1248+2236dup	NM_001350494.2:c.1248+2235_1248+2236dup	NM_001350494.2:c.1248+2234_1248+2236dup	NM_001350494.2:c.1248+2233_1248+2236dup	NM_001350494.2:c.1248+2232_1248+2236dup	NM_001350494.2:c.1248+2231_1248+2236dup	NM_001350494.2:c.1248+2230_1248+2236dup	NM_001350494.2:c.1248+2229_1248+2236dup	NM_001350494.2:c.1248+2228_1248+2236dup	NM_001350494.2:c.1248+2219_1248+2236dup	NM_001350494.2:c.1248+2236_1248+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001350494.2:c.1248+2236_1248+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001350494.2:c.1248+2236_1248+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NT5DC4 transcript variant 1	NM_001393655.1:c.1344+2214=	NM_001393655.1:c.1344+2224_1344+2236del	NM_001393655.1:c.1344+2225_1344+2236del	NM_001393655.1:c.1344+2228_1344+2236del	NM_001393655.1:c.1344+2229_1344+2236del	NM_001393655.1:c.1344+2230_1344+2236del	NM_001393655.1:c.1344+2231_1344+2236del	NM_001393655.1:c.1344+2232_1344+2236del	NM_001393655.1:c.1344+2233_1344+2236del	NM_001393655.1:c.1344+2234_1344+2236del	NM_001393655.1:c.1344+2235_1344+2236del	NM_001393655.1:c.1344+2236del	NM_001393655.1:c.1344+2236dup	NM_001393655.1:c.1344+2235_1344+2236dup	NM_001393655.1:c.1344+2234_1344+2236dup	NM_001393655.1:c.1344+2233_1344+2236dup	NM_001393655.1:c.1344+2232_1344+2236dup	NM_001393655.1:c.1344+2231_1344+2236dup	NM_001393655.1:c.1344+2230_1344+2236dup	NM_001393655.1:c.1344+2229_1344+2236dup	NM_001393655.1:c.1344+2228_1344+2236dup	NM_001393655.1:c.1344+2219_1344+2236dup	NM_001393655.1:c.1344+2236_1344+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001393655.1:c.1344+2236_1344+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001393655.1:c.1344+2236_1344+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NT5DC4 transcript variant X2	XM_011512262.3:c.1536+2214=	XM_011512262.3:c.1536+2224_1536+2236del	XM_011512262.3:c.1536+2225_1536+2236del	XM_011512262.3:c.1536+2228_1536+2236del	XM_011512262.3:c.1536+2229_1536+2236del	XM_011512262.3:c.1536+2230_1536+2236del	XM_011512262.3:c.1536+2231_1536+2236del	XM_011512262.3:c.1536+2232_1536+2236del	XM_011512262.3:c.1536+2233_1536+2236del	XM_011512262.3:c.1536+2234_1536+2236del	XM_011512262.3:c.1536+2235_1536+2236del	XM_011512262.3:c.1536+2236del	XM_011512262.3:c.1536+2236dup	XM_011512262.3:c.1536+2235_1536+2236dup	XM_011512262.3:c.1536+2234_1536+2236dup	XM_011512262.3:c.1536+2233_1536+2236dup	XM_011512262.3:c.1536+2232_1536+2236dup	XM_011512262.3:c.1536+2231_1536+2236dup	XM_011512262.3:c.1536+2230_1536+2236dup	XM_011512262.3:c.1536+2229_1536+2236dup	XM_011512262.3:c.1536+2228_1536+2236dup	XM_011512262.3:c.1536+2219_1536+2236dup	XM_011512262.3:c.1536+2236_1536+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_011512262.3:c.1536+2236_1536+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_011512262.3:c.1536+2236_1536+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NT5DC4 transcript variant X24	XM_011512265.3:c.915+2214=	XM_011512265.3:c.915+2224_915+2236del	XM_011512265.3:c.915+2225_915+2236del	XM_011512265.3:c.915+2228_915+2236del	XM_011512265.3:c.915+2229_915+2236del	XM_011512265.3:c.915+2230_915+2236del	XM_011512265.3:c.915+2231_915+2236del	XM_011512265.3:c.915+2232_915+2236del	XM_011512265.3:c.915+2233_915+2236del	XM_011512265.3:c.915+2234_915+2236del	XM_011512265.3:c.915+2235_915+2236del	XM_011512265.3:c.915+2236del	XM_011512265.3:c.915+2236dup	XM_011512265.3:c.915+2235_915+2236dup	XM_011512265.3:c.915+2234_915+2236dup	XM_011512265.3:c.915+2233_915+2236dup	XM_011512265.3:c.915+2232_915+2236dup	XM_011512265.3:c.915+2231_915+2236dup	XM_011512265.3:c.915+2230_915+2236dup	XM_011512265.3:c.915+2229_915+2236dup	XM_011512265.3:c.915+2228_915+2236dup	XM_011512265.3:c.915+2219_915+2236dup	XM_011512265.3:c.915+2236_915+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_011512265.3:c.915+2236_915+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_011512265.3:c.915+2236_915+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NT5DC4 transcript variant X4	XM_017005474.2:c.1518+2214=	XM_017005474.2:c.1518+2224_1518+2236del	XM_017005474.2:c.1518+2225_1518+2236del	XM_017005474.2:c.1518+2228_1518+2236del	XM_017005474.2:c.1518+2229_1518+2236del	XM_017005474.2:c.1518+2230_1518+2236del	XM_017005474.2:c.1518+2231_1518+2236del	XM_017005474.2:c.1518+2232_1518+2236del	XM_017005474.2:c.1518+2233_1518+2236del	XM_017005474.2:c.1518+2234_1518+2236del	XM_017005474.2:c.1518+2235_1518+2236del	XM_017005474.2:c.1518+2236del	XM_017005474.2:c.1518+2236dup	XM_017005474.2:c.1518+2235_1518+2236dup	XM_017005474.2:c.1518+2234_1518+2236dup	XM_017005474.2:c.1518+2233_1518+2236dup	XM_017005474.2:c.1518+2232_1518+2236dup	XM_017005474.2:c.1518+2231_1518+2236dup	XM_017005474.2:c.1518+2230_1518+2236dup	XM_017005474.2:c.1518+2229_1518+2236dup	XM_017005474.2:c.1518+2228_1518+2236dup	XM_017005474.2:c.1518+2219_1518+2236dup	XM_017005474.2:c.1518+2236_1518+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_017005474.2:c.1518+2236_1518+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_017005474.2:c.1518+2236_1518+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NT5DC4 transcript variant X14	XM_017005475.1:c.1518+2214=	XM_017005475.1:c.1518+2224_1518+2236del	XM_017005475.1:c.1518+2225_1518+2236del	XM_017005475.1:c.1518+2228_1518+2236del	XM_017005475.1:c.1518+2229_1518+2236del	XM_017005475.1:c.1518+2230_1518+2236del	XM_017005475.1:c.1518+2231_1518+2236del	XM_017005475.1:c.1518+2232_1518+2236del	XM_017005475.1:c.1518+2233_1518+2236del	XM_017005475.1:c.1518+2234_1518+2236del	XM_017005475.1:c.1518+2235_1518+2236del	XM_017005475.1:c.1518+2236del	XM_017005475.1:c.1518+2236dup	XM_017005475.1:c.1518+2235_1518+2236dup	XM_017005475.1:c.1518+2234_1518+2236dup	XM_017005475.1:c.1518+2233_1518+2236dup	XM_017005475.1:c.1518+2232_1518+2236dup	XM_017005475.1:c.1518+2231_1518+2236dup	XM_017005475.1:c.1518+2230_1518+2236dup	XM_017005475.1:c.1518+2229_1518+2236dup	XM_017005475.1:c.1518+2228_1518+2236dup	XM_017005475.1:c.1518+2219_1518+2236dup	XM_017005475.1:c.1518+2236_1518+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_017005475.1:c.1518+2236_1518+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_017005475.1:c.1518+2236_1518+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NT5DC4 transcript variant X17	XM_017005476.2:c.1344+2214=	XM_017005476.2:c.1344+2224_1344+2236del	XM_017005476.2:c.1344+2225_1344+2236del	XM_017005476.2:c.1344+2228_1344+2236del	XM_017005476.2:c.1344+2229_1344+2236del	XM_017005476.2:c.1344+2230_1344+2236del	XM_017005476.2:c.1344+2231_1344+2236del	XM_017005476.2:c.1344+2232_1344+2236del	XM_017005476.2:c.1344+2233_1344+2236del	XM_017005476.2:c.1344+2234_1344+2236del	XM_017005476.2:c.1344+2235_1344+2236del	XM_017005476.2:c.1344+2236del	XM_017005476.2:c.1344+2236dup	XM_017005476.2:c.1344+2235_1344+2236dup	XM_017005476.2:c.1344+2234_1344+2236dup	XM_017005476.2:c.1344+2233_1344+2236dup	XM_017005476.2:c.1344+2232_1344+2236dup	XM_017005476.2:c.1344+2231_1344+2236dup	XM_017005476.2:c.1344+2230_1344+2236dup	XM_017005476.2:c.1344+2229_1344+2236dup	XM_017005476.2:c.1344+2228_1344+2236dup	XM_017005476.2:c.1344+2219_1344+2236dup	XM_017005476.2:c.1344+2236_1344+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_017005476.2:c.1344+2236_1344+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_017005476.2:c.1344+2236_1344+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NT5DC4 transcript variant X18	XM_017005477.2:c.1272+2214=	XM_017005477.2:c.1272+2224_1272+2236del	XM_017005477.2:c.1272+2225_1272+2236del	XM_017005477.2:c.1272+2228_1272+2236del	XM_017005477.2:c.1272+2229_1272+2236del	XM_017005477.2:c.1272+2230_1272+2236del	XM_017005477.2:c.1272+2231_1272+2236del	XM_017005477.2:c.1272+2232_1272+2236del	XM_017005477.2:c.1272+2233_1272+2236del	XM_017005477.2:c.1272+2234_1272+2236del	XM_017005477.2:c.1272+2235_1272+2236del	XM_017005477.2:c.1272+2236del	XM_017005477.2:c.1272+2236dup	XM_017005477.2:c.1272+2235_1272+2236dup	XM_017005477.2:c.1272+2234_1272+2236dup	XM_017005477.2:c.1272+2233_1272+2236dup	XM_017005477.2:c.1272+2232_1272+2236dup	XM_017005477.2:c.1272+2231_1272+2236dup	XM_017005477.2:c.1272+2230_1272+2236dup	XM_017005477.2:c.1272+2229_1272+2236dup	XM_017005477.2:c.1272+2228_1272+2236dup	XM_017005477.2:c.1272+2219_1272+2236dup	XM_017005477.2:c.1272+2236_1272+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_017005477.2:c.1272+2236_1272+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_017005477.2:c.1272+2236_1272+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NT5DC4 transcript variant X20	XM_017005478.2:c.1215+2214=	XM_017005478.2:c.1215+2224_1215+2236del	XM_017005478.2:c.1215+2225_1215+2236del	XM_017005478.2:c.1215+2228_1215+2236del	XM_017005478.2:c.1215+2229_1215+2236del	XM_017005478.2:c.1215+2230_1215+2236del	XM_017005478.2:c.1215+2231_1215+2236del	XM_017005478.2:c.1215+2232_1215+2236del	XM_017005478.2:c.1215+2233_1215+2236del	XM_017005478.2:c.1215+2234_1215+2236del	XM_017005478.2:c.1215+2235_1215+2236del	XM_017005478.2:c.1215+2236del	XM_017005478.2:c.1215+2236dup	XM_017005478.2:c.1215+2235_1215+2236dup	XM_017005478.2:c.1215+2234_1215+2236dup	XM_017005478.2:c.1215+2233_1215+2236dup	XM_017005478.2:c.1215+2232_1215+2236dup	XM_017005478.2:c.1215+2231_1215+2236dup	XM_017005478.2:c.1215+2230_1215+2236dup	XM_017005478.2:c.1215+2229_1215+2236dup	XM_017005478.2:c.1215+2228_1215+2236dup	XM_017005478.2:c.1215+2219_1215+2236dup	XM_017005478.2:c.1215+2236_1215+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_017005478.2:c.1215+2236_1215+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_017005478.2:c.1215+2236_1215+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NT5DC4 transcript variant X1	XM_024452799.2:c.1551+2214=	XM_024452799.2:c.1551+2224_1551+2236del	XM_024452799.2:c.1551+2225_1551+2236del	XM_024452799.2:c.1551+2228_1551+2236del	XM_024452799.2:c.1551+2229_1551+2236del	XM_024452799.2:c.1551+2230_1551+2236del	XM_024452799.2:c.1551+2231_1551+2236del	XM_024452799.2:c.1551+2232_1551+2236del	XM_024452799.2:c.1551+2233_1551+2236del	XM_024452799.2:c.1551+2234_1551+2236del	XM_024452799.2:c.1551+2235_1551+2236del	XM_024452799.2:c.1551+2236del	XM_024452799.2:c.1551+2236dup	XM_024452799.2:c.1551+2235_1551+2236dup	XM_024452799.2:c.1551+2234_1551+2236dup	XM_024452799.2:c.1551+2233_1551+2236dup	XM_024452799.2:c.1551+2232_1551+2236dup	XM_024452799.2:c.1551+2231_1551+2236dup	XM_024452799.2:c.1551+2230_1551+2236dup	XM_024452799.2:c.1551+2229_1551+2236dup	XM_024452799.2:c.1551+2228_1551+2236dup	XM_024452799.2:c.1551+2219_1551+2236dup	XM_024452799.2:c.1551+2236_1551+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_024452799.2:c.1551+2236_1551+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_024452799.2:c.1551+2236_1551+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NT5DC4 transcript variant X3	XM_024452800.2:c.1533+2214=	XM_024452800.2:c.1533+2224_1533+2236del	XM_024452800.2:c.1533+2225_1533+2236del	XM_024452800.2:c.1533+2228_1533+2236del	XM_024452800.2:c.1533+2229_1533+2236del	XM_024452800.2:c.1533+2230_1533+2236del	XM_024452800.2:c.1533+2231_1533+2236del	XM_024452800.2:c.1533+2232_1533+2236del	XM_024452800.2:c.1533+2233_1533+2236del	XM_024452800.2:c.1533+2234_1533+2236del	XM_024452800.2:c.1533+2235_1533+2236del	XM_024452800.2:c.1533+2236del	XM_024452800.2:c.1533+2236dup	XM_024452800.2:c.1533+2235_1533+2236dup	XM_024452800.2:c.1533+2234_1533+2236dup	XM_024452800.2:c.1533+2233_1533+2236dup	XM_024452800.2:c.1533+2232_1533+2236dup	XM_024452800.2:c.1533+2231_1533+2236dup	XM_024452800.2:c.1533+2230_1533+2236dup	XM_024452800.2:c.1533+2229_1533+2236dup	XM_024452800.2:c.1533+2228_1533+2236dup	XM_024452800.2:c.1533+2219_1533+2236dup	XM_024452800.2:c.1533+2236_1533+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_024452800.2:c.1533+2236_1533+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_024452800.2:c.1533+2236_1533+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NT5DC4 transcript variant X10	XM_024452802.2:c.1551+2214=	XM_024452802.2:c.1551+2224_1551+2236del	XM_024452802.2:c.1551+2225_1551+2236del	XM_024452802.2:c.1551+2228_1551+2236del	XM_024452802.2:c.1551+2229_1551+2236del	XM_024452802.2:c.1551+2230_1551+2236del	XM_024452802.2:c.1551+2231_1551+2236del	XM_024452802.2:c.1551+2232_1551+2236del	XM_024452802.2:c.1551+2233_1551+2236del	XM_024452802.2:c.1551+2234_1551+2236del	XM_024452802.2:c.1551+2235_1551+2236del	XM_024452802.2:c.1551+2236del	XM_024452802.2:c.1551+2236dup	XM_024452802.2:c.1551+2235_1551+2236dup	XM_024452802.2:c.1551+2234_1551+2236dup	XM_024452802.2:c.1551+2233_1551+2236dup	XM_024452802.2:c.1551+2232_1551+2236dup	XM_024452802.2:c.1551+2231_1551+2236dup	XM_024452802.2:c.1551+2230_1551+2236dup	XM_024452802.2:c.1551+2229_1551+2236dup	XM_024452802.2:c.1551+2228_1551+2236dup	XM_024452802.2:c.1551+2219_1551+2236dup	XM_024452802.2:c.1551+2236_1551+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_024452802.2:c.1551+2236_1551+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_024452802.2:c.1551+2236_1551+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NT5DC4 transcript variant X11	XM_024452803.2:c.1425+2214=	XM_024452803.2:c.1425+2224_1425+2236del	XM_024452803.2:c.1425+2225_1425+2236del	XM_024452803.2:c.1425+2228_1425+2236del	XM_024452803.2:c.1425+2229_1425+2236del	XM_024452803.2:c.1425+2230_1425+2236del	XM_024452803.2:c.1425+2231_1425+2236del	XM_024452803.2:c.1425+2232_1425+2236del	XM_024452803.2:c.1425+2233_1425+2236del	XM_024452803.2:c.1425+2234_1425+2236del	XM_024452803.2:c.1425+2235_1425+2236del	XM_024452803.2:c.1425+2236del	XM_024452803.2:c.1425+2236dup	XM_024452803.2:c.1425+2235_1425+2236dup	XM_024452803.2:c.1425+2234_1425+2236dup	XM_024452803.2:c.1425+2233_1425+2236dup	XM_024452803.2:c.1425+2232_1425+2236dup	XM_024452803.2:c.1425+2231_1425+2236dup	XM_024452803.2:c.1425+2230_1425+2236dup	XM_024452803.2:c.1425+2229_1425+2236dup	XM_024452803.2:c.1425+2228_1425+2236dup	XM_024452803.2:c.1425+2219_1425+2236dup	XM_024452803.2:c.1425+2236_1425+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_024452803.2:c.1425+2236_1425+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_024452803.2:c.1425+2236_1425+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NT5DC4 transcript variant X12	XM_024452804.2:c.1551+2214=	XM_024452804.2:c.1551+2224_1551+2236del	XM_024452804.2:c.1551+2225_1551+2236del	XM_024452804.2:c.1551+2228_1551+2236del	XM_024452804.2:c.1551+2229_1551+2236del	XM_024452804.2:c.1551+2230_1551+2236del	XM_024452804.2:c.1551+2231_1551+2236del	XM_024452804.2:c.1551+2232_1551+2236del	XM_024452804.2:c.1551+2233_1551+2236del	XM_024452804.2:c.1551+2234_1551+2236del	XM_024452804.2:c.1551+2235_1551+2236del	XM_024452804.2:c.1551+2236del	XM_024452804.2:c.1551+2236dup	XM_024452804.2:c.1551+2235_1551+2236dup	XM_024452804.2:c.1551+2234_1551+2236dup	XM_024452804.2:c.1551+2233_1551+2236dup	XM_024452804.2:c.1551+2232_1551+2236dup	XM_024452804.2:c.1551+2231_1551+2236dup	XM_024452804.2:c.1551+2230_1551+2236dup	XM_024452804.2:c.1551+2229_1551+2236dup	XM_024452804.2:c.1551+2228_1551+2236dup	XM_024452804.2:c.1551+2219_1551+2236dup	XM_024452804.2:c.1551+2236_1551+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_024452804.2:c.1551+2236_1551+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_024452804.2:c.1551+2236_1551+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NT5DC4 transcript variant X13	XM_024452805.2:c.1552-1641=	XM_024452805.2:c.1552-1631_1552-1619del	XM_024452805.2:c.1552-1630_1552-1619del	XM_024452805.2:c.1552-1627_1552-1619del	XM_024452805.2:c.1552-1626_1552-1619del	XM_024452805.2:c.1552-1625_1552-1619del	XM_024452805.2:c.1552-1624_1552-1619del	XM_024452805.2:c.1552-1623_1552-1619del	XM_024452805.2:c.1552-1622_1552-1619del	XM_024452805.2:c.1552-1621_1552-1619del	XM_024452805.2:c.1552-1620_1552-1619del	XM_024452805.2:c.1552-1619del	XM_024452805.2:c.1552-1619dup	XM_024452805.2:c.1552-1620_1552-1619dup	XM_024452805.2:c.1552-1621_1552-1619dup	XM_024452805.2:c.1552-1622_1552-1619dup	XM_024452805.2:c.1552-1623_1552-1619dup	XM_024452805.2:c.1552-1624_1552-1619dup	XM_024452805.2:c.1552-1625_1552-1619dup	XM_024452805.2:c.1552-1626_1552-1619dup	XM_024452805.2:c.1552-1627_1552-1619dup	XM_024452805.2:c.1552-1636_1552-1619dup	XM_024452805.2:c.1552-1619_1552-1618insTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_024452805.2:c.1552-1619_1552-1618insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_024452805.2:c.1552-1619_1552-1618insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NT5DC4 transcript variant X16	XM_024452807.2:c.1380+2214=	XM_024452807.2:c.1380+2224_1380+2236del	XM_024452807.2:c.1380+2225_1380+2236del	XM_024452807.2:c.1380+2228_1380+2236del	XM_024452807.2:c.1380+2229_1380+2236del	XM_024452807.2:c.1380+2230_1380+2236del	XM_024452807.2:c.1380+2231_1380+2236del	XM_024452807.2:c.1380+2232_1380+2236del	XM_024452807.2:c.1380+2233_1380+2236del	XM_024452807.2:c.1380+2234_1380+2236del	XM_024452807.2:c.1380+2235_1380+2236del	XM_024452807.2:c.1380+2236del	XM_024452807.2:c.1380+2236dup	XM_024452807.2:c.1380+2235_1380+2236dup	XM_024452807.2:c.1380+2234_1380+2236dup	XM_024452807.2:c.1380+2233_1380+2236dup	XM_024452807.2:c.1380+2232_1380+2236dup	XM_024452807.2:c.1380+2231_1380+2236dup	XM_024452807.2:c.1380+2230_1380+2236dup	XM_024452807.2:c.1380+2229_1380+2236dup	XM_024452807.2:c.1380+2228_1380+2236dup	XM_024452807.2:c.1380+2219_1380+2236dup	XM_024452807.2:c.1380+2236_1380+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_024452807.2:c.1380+2236_1380+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_024452807.2:c.1380+2236_1380+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NT5DC4 transcript variant X19	XM_024452808.2:c.1254+2214=	XM_024452808.2:c.1254+2224_1254+2236del	XM_024452808.2:c.1254+2225_1254+2236del	XM_024452808.2:c.1254+2228_1254+2236del	XM_024452808.2:c.1254+2229_1254+2236del	XM_024452808.2:c.1254+2230_1254+2236del	XM_024452808.2:c.1254+2231_1254+2236del	XM_024452808.2:c.1254+2232_1254+2236del	XM_024452808.2:c.1254+2233_1254+2236del	XM_024452808.2:c.1254+2234_1254+2236del	XM_024452808.2:c.1254+2235_1254+2236del	XM_024452808.2:c.1254+2236del	XM_024452808.2:c.1254+2236dup	XM_024452808.2:c.1254+2235_1254+2236dup	XM_024452808.2:c.1254+2234_1254+2236dup	XM_024452808.2:c.1254+2233_1254+2236dup	XM_024452808.2:c.1254+2232_1254+2236dup	XM_024452808.2:c.1254+2231_1254+2236dup	XM_024452808.2:c.1254+2230_1254+2236dup	XM_024452808.2:c.1254+2229_1254+2236dup	XM_024452808.2:c.1254+2228_1254+2236dup	XM_024452808.2:c.1254+2219_1254+2236dup	XM_024452808.2:c.1254+2236_1254+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_024452808.2:c.1254+2236_1254+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_024452808.2:c.1254+2236_1254+2237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

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#.

40 SubSNP, 32 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	EVA_GENOME_DK	ss1575486475	Apr 01, 2015 (144)
2	SWEGEN	ss2990196829	Nov 08, 2017 (151)
3	ACPOP	ss3728754464	Jul 13, 2019 (153)
4	ACPOP	ss3728754465	Jul 13, 2019 (153)
5	EVA	ss3827156226	Apr 25, 2020 (154)
6	GNOMAD	ss4048476988	Apr 26, 2021 (155)
7	GNOMAD	ss4048476989	Apr 26, 2021 (155)
8	GNOMAD	ss4048476990	Apr 26, 2021 (155)
9	GNOMAD	ss4048476991	Apr 26, 2021 (155)
10	GNOMAD	ss4048476992	Apr 26, 2021 (155)
11	GNOMAD	ss4048476993	Apr 26, 2021 (155)
12	GNOMAD	ss4048476994	Apr 26, 2021 (155)
13	GNOMAD	ss4048476995	Apr 26, 2021 (155)
14	GNOMAD	ss4048476996	Apr 26, 2021 (155)
15	GNOMAD	ss4048476997	Apr 26, 2021 (155)
16	GNOMAD	ss4048476998	Apr 26, 2021 (155)
17	GNOMAD	ss4048476999	Apr 26, 2021 (155)
18	GNOMAD	ss4048477000	Apr 26, 2021 (155)
19	GNOMAD	ss4048477001	Apr 26, 2021 (155)
20	GNOMAD	ss4048477002	Apr 26, 2021 (155)
21	GNOMAD	ss4048477003	Apr 26, 2021 (155)
22	GNOMAD	ss4048477004	Apr 26, 2021 (155)
23	TOPMED	ss4519390364	Apr 26, 2021 (155)
24	TOPMED	ss4519390365	Apr 26, 2021 (155)
25	TOPMED	ss4519390366	Apr 26, 2021 (155)
26	TOMMO_GENOMICS	ss5153252842	Apr 26, 2021 (155)
27	TOMMO_GENOMICS	ss5153252843	Apr 26, 2021 (155)
28	TOMMO_GENOMICS	ss5153252844	Apr 26, 2021 (155)
29	TOMMO_GENOMICS	ss5153252845	Apr 26, 2021 (155)
30	1000G_HIGH_COVERAGE	ss5249536795	Oct 12, 2022 (156)
31	1000G_HIGH_COVERAGE	ss5249536796	Oct 12, 2022 (156)
32	HUGCELL_USP	ss5449429429	Oct 12, 2022 (156)
33	HUGCELL_USP	ss5449429430	Oct 12, 2022 (156)
34	HUGCELL_USP	ss5449429431	Oct 12, 2022 (156)
35	HUGCELL_USP	ss5449429432	Oct 12, 2022 (156)
36	HUGCELL_USP	ss5449429433	Oct 12, 2022 (156)
37	TOMMO_GENOMICS	ss5683195780	Oct 12, 2022 (156)
38	TOMMO_GENOMICS	ss5683195781	Oct 12, 2022 (156)
39	TOMMO_GENOMICS	ss5683195782	Oct 12, 2022 (156)
40	TOMMO_GENOMICS	ss5683195783	Oct 12, 2022 (156)
41	The Danish reference pan genome	NC_000002.11 - 113489495	Apr 25, 2020 (154)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69933467 (NC_000002.12:112731917::TT 1853/99386) Row 69933468 (NC_000002.12:112731917::TTT 127/99576) Row 69933469 (NC_000002.12:112731917::TTTT 48/99568)...	-	Apr 26, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69933467 (NC_000002.12:112731917::TT 1853/99386) Row 69933468 (NC_000002.12:112731917::TTT 127/99576) Row 69933469 (NC_000002.12:112731917::TTTT 48/99568)...	-	Apr 26, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69933467 (NC_000002.12:112731917::TT 1853/99386) Row 69933468 (NC_000002.12:112731917::TTT 127/99576) Row 69933469 (NC_000002.12:112731917::TTTT 48/99568)...	-	Apr 26, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69933467 (NC_000002.12:112731917::TT 1853/99386) Row 69933468 (NC_000002.12:112731917::TTT 127/99576) Row 69933469 (NC_000002.12:112731917::TTTT 48/99568)...	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69933467 (NC_000002.12:112731917::TT 1853/99386) Row 69933468 (NC_000002.12:112731917::TTT 127/99576) Row 69933469 (NC_000002.12:112731917::TTTT 48/99568)...	-	Apr 26, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69933467 (NC_000002.12:112731917::TT 1853/99386) Row 69933468 (NC_000002.12:112731917::TTT 127/99576) Row 69933469 (NC_000002.12:112731917::TTTT 48/99568)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69933467 (NC_000002.12:112731917::TT 1853/99386) Row 69933468 (NC_000002.12:112731917::TTT 127/99576) Row 69933469 (NC_000002.12:112731917::TTTT 48/99568)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69933467 (NC_000002.12:112731917::TT 1853/99386) Row 69933468 (NC_000002.12:112731917::TTT 127/99576) Row 69933469 (NC_000002.12:112731917::TTTT 48/99568)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69933467 (NC_000002.12:112731917::TT 1853/99386) Row 69933468 (NC_000002.12:112731917::TTT 127/99576) Row 69933469 (NC_000002.12:112731917::TTTT 48/99568)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69933467 (NC_000002.12:112731917::TT 1853/99386) Row 69933468 (NC_000002.12:112731917::TTT 127/99576) Row 69933469 (NC_000002.12:112731917::TTTT 48/99568)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69933467 (NC_000002.12:112731917::TT 1853/99386) Row 69933468 (NC_000002.12:112731917::TTT 127/99576) Row 69933469 (NC_000002.12:112731917::TTTT 48/99568)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69933467 (NC_000002.12:112731917::TT 1853/99386) Row 69933468 (NC_000002.12:112731917::TTT 127/99576) Row 69933469 (NC_000002.12:112731917::TTTT 48/99568)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69933467 (NC_000002.12:112731917::TT 1853/99386) Row 69933468 (NC_000002.12:112731917::TTT 127/99576) Row 69933469 (NC_000002.12:112731917::TTTT 48/99568)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69933467 (NC_000002.12:112731917::TT 1853/99386) Row 69933468 (NC_000002.12:112731917::TTT 127/99576) Row 69933469 (NC_000002.12:112731917::TTTT 48/99568)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69933467 (NC_000002.12:112731917::TT 1853/99386) Row 69933468 (NC_000002.12:112731917::TTT 127/99576) Row 69933469 (NC_000002.12:112731917::TTTT 48/99568)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69933467 (NC_000002.12:112731917::TT 1853/99386) Row 69933468 (NC_000002.12:112731917::TTT 127/99576) Row 69933469 (NC_000002.12:112731917::TTTT 48/99568)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69933467 (NC_000002.12:112731917::TT 1853/99386) Row 69933468 (NC_000002.12:112731917::TTT 127/99576) Row 69933469 (NC_000002.12:112731917::TTTT 48/99568)...	-	Apr 26, 2021 (155)
59	Northern Sweden Submission ignored due to conflicting rows: Row 2039329 (NC_000002.11:113489494::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 1/596) Row 2039330 (NC_000002.11:113489494::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 2/596)	-	Jul 13, 2019 (153)
60	Northern Sweden Submission ignored due to conflicting rows: Row 2039329 (NC_000002.11:113489494::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 1/596) Row 2039330 (NC_000002.11:113489494::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 2/596)	-	Jul 13, 2019 (153)
61	8.3KJPN Submission ignored due to conflicting rows: Row 11222149 (NC_000002.11:113489494:TTTTTTT: 8/16720) Row 11222150 (NC_000002.11:113489494::T 64/16720) Row 11222151 (NC_000002.11:113489494:T: 146/16720)...	-	Apr 26, 2021 (155)
62	8.3KJPN Submission ignored due to conflicting rows: Row 11222149 (NC_000002.11:113489494:TTTTTTT: 8/16720) Row 11222150 (NC_000002.11:113489494::T 64/16720) Row 11222151 (NC_000002.11:113489494:T: 146/16720)...	-	Apr 26, 2021 (155)
63	8.3KJPN Submission ignored due to conflicting rows: Row 11222149 (NC_000002.11:113489494:TTTTTTT: 8/16720) Row 11222150 (NC_000002.11:113489494::T 64/16720) Row 11222151 (NC_000002.11:113489494:T: 146/16720)...	-	Apr 26, 2021 (155)
64	8.3KJPN Submission ignored due to conflicting rows: Row 11222149 (NC_000002.11:113489494:TTTTTTT: 8/16720) Row 11222150 (NC_000002.11:113489494::T 64/16720) Row 11222151 (NC_000002.11:113489494:T: 146/16720)...	-	Apr 26, 2021 (155)
65	14KJPN Submission ignored due to conflicting rows: Row 17032884 (NC_000002.12:112731917:TTTTTTT: 15/28228) Row 17032885 (NC_000002.12:112731917::T 62/28228) Row 17032886 (NC_000002.12:112731917:T: 291/28228)...	-	Oct 12, 2022 (156)
66	14KJPN Submission ignored due to conflicting rows: Row 17032884 (NC_000002.12:112731917:TTTTTTT: 15/28228) Row 17032885 (NC_000002.12:112731917::T 62/28228) Row 17032886 (NC_000002.12:112731917:T: 291/28228)...	-	Oct 12, 2022 (156)
67	14KJPN Submission ignored due to conflicting rows: Row 17032884 (NC_000002.12:112731917:TTTTTTT: 15/28228) Row 17032885 (NC_000002.12:112731917::T 62/28228) Row 17032886 (NC_000002.12:112731917:T: 291/28228)...	-	Oct 12, 2022 (156)
68	14KJPN Submission ignored due to conflicting rows: Row 17032884 (NC_000002.12:112731917:TTTTTTT: 15/28228) Row 17032885 (NC_000002.12:112731917::T 62/28228) Row 17032886 (NC_000002.12:112731917:T: 291/28228)...	-	Oct 12, 2022 (156)
69	TopMed Submission ignored due to conflicting rows: Row 323213243 (NC_000002.12:112731917:TTTTTTTTT: 1/264690) Row 323213244 (NC_000002.12:112731917:TTTTTTTTTTTT: 1/264690) Row 323213245 (NC_000002.12:112731917:TTTTTTTTTTTTT: 6/264690)	-	Apr 26, 2021 (155)
70	TopMed Submission ignored due to conflicting rows: Row 323213243 (NC_000002.12:112731917:TTTTTTTTT: 1/264690) Row 323213244 (NC_000002.12:112731917:TTTTTTTTTTTT: 1/264690) Row 323213245 (NC_000002.12:112731917:TTTTTTTTTTTTT: 6/264690)	-	Apr 26, 2021 (155)
71	TopMed Submission ignored due to conflicting rows: Row 323213243 (NC_000002.12:112731917:TTTTTTTTT: 1/264690) Row 323213244 (NC_000002.12:112731917:TTTTTTTTTTTT: 1/264690) Row 323213245 (NC_000002.12:112731917:TTTTTTTTTTTTT: 6/264690)	-	Apr 26, 2021 (155)
72	ALFA	NC_000002.12 - 112731918	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4048477004, ss4519390366	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTT:	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
13686524609	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
ss4519390365	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTT:	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
13686524609	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss4519390364	NC_000002.12:112731917:TTTTTTTTT:	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
13686524609	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
13686524609	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss5153252842	NC_000002.11:113489494:TTTTTTT:	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4048477003, ss5683195780	NC_000002.12:112731917:TTTTTTT:	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
13686524609	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss5153252845	NC_000002.11:113489494:TTTTTT:	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4048477002, ss5449429433, ss5683195783	NC_000002.12:112731917:TTTTTT:	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
13686524609	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4048477001	NC_000002.12:112731917:TTTTT:	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
13686524609	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4048477000	NC_000002.12:112731917:TTTT:	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
13686524609	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4048476999	NC_000002.12:112731917:TTT:	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
13686524609	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4048476998	NC_000002.12:112731917:TT:	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
13686524609	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss2990196829, ss5153252844	NC_000002.11:113489494:T:	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4048476997, ss5449429430, ss5683195782	NC_000002.12:112731917:T:	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
13686524609	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
688879, ss1575486475, ss3827156226, ss5153252843	NC_000002.11:113489494::T	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5249536795, ss5449429429, ss5683195781	NC_000002.12:112731917::T	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
13686524609	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4048476988, ss5249536796, ss5449429431	NC_000002.12:112731917::TT	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
13686524609	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4048476989, ss5449429432	NC_000002.12:112731917::TTT	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
13686524609	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4048476990	NC_000002.12:112731917::TTTT	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
13686524609	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4048476991	NC_000002.12:112731917::TTTTT	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
13686524609	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4048476992	NC_000002.12:112731917::TTTTTT	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4048476993	NC_000002.12:112731917::TTTTTTT	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4048476994	NC_000002.12:112731917::TTTTTTTT	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
13686524609	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4048476995	NC_000002.12:112731917::TTTTTTTTT	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4048476996	NC_000002.12:112731917::TTTTTTTTTT… NC_000002.12:112731917::TTTTTTTTTTTTTTTTTT	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
13686524609	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3728754464	NC_000002.11:113489494::TTTTTTTTTT… NC_000002.11:113489494::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3728754465	NC_000002.11:113489494::TTTTTTTTTT… NC_000002.11:113489494::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000002.12:112731917:TTTTTTTTTTT… NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(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 rs749249208

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

rs749249208