Name: rs201864672
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.

rs201864672

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:84338433-84338455 (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)₁₂ / del(T)₁₁ / del(T)₁₀ / d…
del(T)₁₂ / del(T)₁₁ / del(T)₁₀ / del(T)₉ / del(T)₈ / del(T)₇ / del(T)₆ / del(T)₅ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅ / dup(T)₂₂ / ins(T)₃₂
Variation Type: Indel Insertion and Deletion
Frequency: dupT=0.2420 (1686/6968, ALFA)
del(T)₉=0.0721 (361/5008, 1000G)
(T)₂₃=0.47 (19/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SAMD13 : 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	6968	TTTTTTTTTTTTTTTTTTTTTTT=0.7369	TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0003, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0003, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0009, TTTTTTTTTTTTTTTTTTTTTTTT=0.2420, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0145, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0052, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.666568	0.155285	0.178147	32
European	Sub	6184	TTTTTTTTTTTTTTTTTTTTTTT=0.7046	TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0003, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0003, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0010, TTTTTTTTTTTTTTTTTTTTTTTT=0.2718, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0162, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0058, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.623782	0.175008	0.201209	32
African	Sub	504	TTTTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	22	TTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	482	TTTTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	16	TTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	14	TTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	2	TTTTTTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	28	TTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	92	TTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	32	TTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	112	TTTTTTTTTTTTTTTTTTTTTTT=0.946	TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.045, TTTTTTTTTTTTTTTTTTTTTTTTT=0.009, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	0.945455	0.036364	0.018182	19

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	6968	(T)₂₃=0.7369	del(T)₁₂=0.0000, del(T)₁₁=0.0000, del(T)₁₀=0.0000, del(T)₉=0.0003, del(T)₈=0.0000, del(T)₇=0.0000, del(T)₆=0.0000, del(T)₅=0.0003, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0009, dupT=0.2420, dupTT=0.0145, dupTTT=0.0052, dup(T)₄=0.0000, dup(T)₅=0.0000
Allele Frequency Aggregator	European	Sub	6184	(T)₂₃=0.7046	del(T)₁₂=0.0000, del(T)₁₁=0.0000, del(T)₁₀=0.0000, del(T)₉=0.0003, del(T)₈=0.0000, del(T)₇=0.0000, del(T)₆=0.0000, del(T)₅=0.0003, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0010, dupT=0.2718, dupTT=0.0162, dupTTT=0.0058, dup(T)₄=0.0000, dup(T)₅=0.0000
Allele Frequency Aggregator	African	Sub	504	(T)₂₃=1.000	del(T)₁₂=0.000, del(T)₁₁=0.000, del(T)₁₀=0.000, del(T)₉=0.000, del(T)₈=0.000, del(T)₇=0.000, del(T)₆=0.000, del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000
Allele Frequency Aggregator	Other	Sub	112	(T)₂₃=0.946	del(T)₁₂=0.000, del(T)₁₁=0.000, del(T)₁₀=0.000, del(T)₉=0.000, del(T)₈=0.000, del(T)₇=0.000, del(T)₆=0.000, del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.045, dupTT=0.009, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000
Allele Frequency Aggregator	Latin American 2	Sub	92	(T)₂₃=1.00	del(T)₁₂=0.00, del(T)₁₁=0.00, del(T)₁₀=0.00, del(T)₉=0.00, del(T)₈=0.00, del(T)₇=0.00, del(T)₆=0.00, del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00
Allele Frequency Aggregator	South Asian	Sub	32	(T)₂₃=1.00	del(T)₁₂=0.00, del(T)₁₁=0.00, del(T)₁₀=0.00, del(T)₉=0.00, del(T)₈=0.00, del(T)₇=0.00, del(T)₆=0.00, del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00
Allele Frequency Aggregator	Latin American 1	Sub	28	(T)₂₃=1.00	del(T)₁₂=0.00, del(T)₁₁=0.00, del(T)₁₀=0.00, del(T)₉=0.00, del(T)₈=0.00, del(T)₇=0.00, del(T)₆=0.00, del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00
Allele Frequency Aggregator	Asian	Sub	16	(T)₂₃=1.00	del(T)₁₂=0.00, del(T)₁₁=0.00, del(T)₁₀=0.00, del(T)₉=0.00, del(T)₈=0.00, del(T)₇=0.00, del(T)₆=0.00, del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00
1000Genomes	Global	Study-wide	5008	(T)₂₃=0.9279	del(T)₉=0.0721
1000Genomes	African	Sub	1322	(T)₂₃=0.9531	del(T)₉=0.0469
1000Genomes	East Asian	Sub	1008	(T)₂₃=0.8542	del(T)₉=0.1458
1000Genomes	Europe	Sub	1006	(T)₂₃=0.9831	del(T)₉=0.0169
1000Genomes	South Asian	Sub	978	(T)₂₃=0.961	del(T)₉=0.039
1000Genomes	American	Sub	694	(T)₂₃=0.860	del(T)₉=0.140
The Danish reference pan genome	Danish	Study-wide	40	- No frequency provided	dupT=0.53

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 1	NC_000001.11:g.84338444_84338455del
GRCh38.p14 chr 1	NC_000001.11:g.84338445_84338455del
GRCh38.p14 chr 1	NC_000001.11:g.84338446_84338455del
GRCh38.p14 chr 1	NC_000001.11:g.84338447_84338455del
GRCh38.p14 chr 1	NC_000001.11:g.84338448_84338455del
GRCh38.p14 chr 1	NC_000001.11:g.84338449_84338455del
GRCh38.p14 chr 1	NC_000001.11:g.84338450_84338455del
GRCh38.p14 chr 1	NC_000001.11:g.84338451_84338455del
GRCh38.p14 chr 1	NC_000001.11:g.84338452_84338455del
GRCh38.p14 chr 1	NC_000001.11:g.84338453_84338455del
GRCh38.p14 chr 1	NC_000001.11:g.84338454_84338455del
GRCh38.p14 chr 1	NC_000001.11:g.84338455del
GRCh38.p14 chr 1	NC_000001.11:g.84338455dup
GRCh38.p14 chr 1	NC_000001.11:g.84338454_84338455dup
GRCh38.p14 chr 1	NC_000001.11:g.84338453_84338455dup
GRCh38.p14 chr 1	NC_000001.11:g.84338452_84338455dup
GRCh38.p14 chr 1	NC_000001.11:g.84338451_84338455dup
GRCh38.p14 chr 1	NC_000001.11:g.84338434_84338455dup
GRCh38.p14 chr 1	NC_000001.11:g.84338455_84338456insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 1	NC_000001.10:g.84804127_84804138del
GRCh37.p13 chr 1	NC_000001.10:g.84804128_84804138del
GRCh37.p13 chr 1	NC_000001.10:g.84804129_84804138del
GRCh37.p13 chr 1	NC_000001.10:g.84804130_84804138del
GRCh37.p13 chr 1	NC_000001.10:g.84804131_84804138del
GRCh37.p13 chr 1	NC_000001.10:g.84804132_84804138del
GRCh37.p13 chr 1	NC_000001.10:g.84804133_84804138del
GRCh37.p13 chr 1	NC_000001.10:g.84804134_84804138del
GRCh37.p13 chr 1	NC_000001.10:g.84804135_84804138del
GRCh37.p13 chr 1	NC_000001.10:g.84804136_84804138del
GRCh37.p13 chr 1	NC_000001.10:g.84804137_84804138del
GRCh37.p13 chr 1	NC_000001.10:g.84804138del
GRCh37.p13 chr 1	NC_000001.10:g.84804138dup
GRCh37.p13 chr 1	NC_000001.10:g.84804137_84804138dup
GRCh37.p13 chr 1	NC_000001.10:g.84804136_84804138dup
GRCh37.p13 chr 1	NC_000001.10:g.84804135_84804138dup
GRCh37.p13 chr 1	NC_000001.10:g.84804134_84804138dup
GRCh37.p13 chr 1	NC_000001.10:g.84804117_84804138dup
GRCh37.p13 chr 1	NC_000001.10:g.84804138_84804139insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Gene: SAMD13, sterile alpha motif domain containing 13 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SAMD13 transcript variant 1	NM_001010971.3:c.208-1118… NM_001010971.3:c.208-11187_208-11176del	N/A	Intron Variant
SAMD13 transcript variant 2	NM_001134663.2:c.166-1118… NM_001134663.2:c.166-11187_166-11176del	N/A	Intron Variant
SAMD13 transcript variant 3	NM_001134664.2:c.166-1118… NM_001134664.2:c.166-11187_166-11176del	N/A	Intron Variant
SAMD13 transcript variant X1	XM_017000377.3:c.226-1118… XM_017000377.3:c.226-11187_226-11176del	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	(T)₂₃=	del(T)₁₂	del(T)₁₁	del(T)₁₀	del(T)₉	del(T)₈	del(T)₇	del(T)₆	del(T)₅	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅	dup(T)₂₂	ins(T)₃₂
GRCh38.p14 chr 1	NC_000001.11:g.84338433_84338455=	NC_000001.11:g.84338444_84338455del	NC_000001.11:g.84338445_84338455del	NC_000001.11:g.84338446_84338455del	NC_000001.11:g.84338447_84338455del	NC_000001.11:g.84338448_84338455del	NC_000001.11:g.84338449_84338455del	NC_000001.11:g.84338450_84338455del	NC_000001.11:g.84338451_84338455del	NC_000001.11:g.84338452_84338455del	NC_000001.11:g.84338453_84338455del	NC_000001.11:g.84338454_84338455del	NC_000001.11:g.84338455del	NC_000001.11:g.84338455dup	NC_000001.11:g.84338454_84338455dup	NC_000001.11:g.84338453_84338455dup	NC_000001.11:g.84338452_84338455dup	NC_000001.11:g.84338451_84338455dup	NC_000001.11:g.84338434_84338455dup	NC_000001.11:g.84338455_84338456insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 1	NC_000001.10:g.84804116_84804138=	NC_000001.10:g.84804127_84804138del	NC_000001.10:g.84804128_84804138del	NC_000001.10:g.84804129_84804138del	NC_000001.10:g.84804130_84804138del	NC_000001.10:g.84804131_84804138del	NC_000001.10:g.84804132_84804138del	NC_000001.10:g.84804133_84804138del	NC_000001.10:g.84804134_84804138del	NC_000001.10:g.84804135_84804138del	NC_000001.10:g.84804136_84804138del	NC_000001.10:g.84804137_84804138del	NC_000001.10:g.84804138del	NC_000001.10:g.84804138dup	NC_000001.10:g.84804137_84804138dup	NC_000001.10:g.84804136_84804138dup	NC_000001.10:g.84804135_84804138dup	NC_000001.10:g.84804134_84804138dup	NC_000001.10:g.84804117_84804138dup	NC_000001.10:g.84804138_84804139insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SAMD13 transcript variant 1	NM_001010971.2:c.208-11198=	NM_001010971.2:c.208-11187_208-11176del	NM_001010971.2:c.208-11186_208-11176del	NM_001010971.2:c.208-11185_208-11176del	NM_001010971.2:c.208-11184_208-11176del	NM_001010971.2:c.208-11183_208-11176del	NM_001010971.2:c.208-11182_208-11176del	NM_001010971.2:c.208-11181_208-11176del	NM_001010971.2:c.208-11180_208-11176del	NM_001010971.2:c.208-11179_208-11176del	NM_001010971.2:c.208-11178_208-11176del	NM_001010971.2:c.208-11177_208-11176del	NM_001010971.2:c.208-11176del	NM_001010971.2:c.208-11176dup	NM_001010971.2:c.208-11177_208-11176dup	NM_001010971.2:c.208-11178_208-11176dup	NM_001010971.2:c.208-11179_208-11176dup	NM_001010971.2:c.208-11180_208-11176dup	NM_001010971.2:c.208-11197_208-11176dup	NM_001010971.2:c.208-11176_208-11175insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SAMD13 transcript variant 1	NM_001010971.3:c.208-11198=	NM_001010971.3:c.208-11187_208-11176del	NM_001010971.3:c.208-11186_208-11176del	NM_001010971.3:c.208-11185_208-11176del	NM_001010971.3:c.208-11184_208-11176del	NM_001010971.3:c.208-11183_208-11176del	NM_001010971.3:c.208-11182_208-11176del	NM_001010971.3:c.208-11181_208-11176del	NM_001010971.3:c.208-11180_208-11176del	NM_001010971.3:c.208-11179_208-11176del	NM_001010971.3:c.208-11178_208-11176del	NM_001010971.3:c.208-11177_208-11176del	NM_001010971.3:c.208-11176del	NM_001010971.3:c.208-11176dup	NM_001010971.3:c.208-11177_208-11176dup	NM_001010971.3:c.208-11178_208-11176dup	NM_001010971.3:c.208-11179_208-11176dup	NM_001010971.3:c.208-11180_208-11176dup	NM_001010971.3:c.208-11197_208-11176dup	NM_001010971.3:c.208-11176_208-11175insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SAMD13 transcript variant 2	NM_001134663.1:c.166-11198=	NM_001134663.1:c.166-11187_166-11176del	NM_001134663.1:c.166-11186_166-11176del	NM_001134663.1:c.166-11185_166-11176del	NM_001134663.1:c.166-11184_166-11176del	NM_001134663.1:c.166-11183_166-11176del	NM_001134663.1:c.166-11182_166-11176del	NM_001134663.1:c.166-11181_166-11176del	NM_001134663.1:c.166-11180_166-11176del	NM_001134663.1:c.166-11179_166-11176del	NM_001134663.1:c.166-11178_166-11176del	NM_001134663.1:c.166-11177_166-11176del	NM_001134663.1:c.166-11176del	NM_001134663.1:c.166-11176dup	NM_001134663.1:c.166-11177_166-11176dup	NM_001134663.1:c.166-11178_166-11176dup	NM_001134663.1:c.166-11179_166-11176dup	NM_001134663.1:c.166-11180_166-11176dup	NM_001134663.1:c.166-11197_166-11176dup	NM_001134663.1:c.166-11176_166-11175insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SAMD13 transcript variant 2	NM_001134663.2:c.166-11198=	NM_001134663.2:c.166-11187_166-11176del	NM_001134663.2:c.166-11186_166-11176del	NM_001134663.2:c.166-11185_166-11176del	NM_001134663.2:c.166-11184_166-11176del	NM_001134663.2:c.166-11183_166-11176del	NM_001134663.2:c.166-11182_166-11176del	NM_001134663.2:c.166-11181_166-11176del	NM_001134663.2:c.166-11180_166-11176del	NM_001134663.2:c.166-11179_166-11176del	NM_001134663.2:c.166-11178_166-11176del	NM_001134663.2:c.166-11177_166-11176del	NM_001134663.2:c.166-11176del	NM_001134663.2:c.166-11176dup	NM_001134663.2:c.166-11177_166-11176dup	NM_001134663.2:c.166-11178_166-11176dup	NM_001134663.2:c.166-11179_166-11176dup	NM_001134663.2:c.166-11180_166-11176dup	NM_001134663.2:c.166-11197_166-11176dup	NM_001134663.2:c.166-11176_166-11175insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SAMD13 transcript variant 3	NM_001134664.1:c.166-11198=	NM_001134664.1:c.166-11187_166-11176del	NM_001134664.1:c.166-11186_166-11176del	NM_001134664.1:c.166-11185_166-11176del	NM_001134664.1:c.166-11184_166-11176del	NM_001134664.1:c.166-11183_166-11176del	NM_001134664.1:c.166-11182_166-11176del	NM_001134664.1:c.166-11181_166-11176del	NM_001134664.1:c.166-11180_166-11176del	NM_001134664.1:c.166-11179_166-11176del	NM_001134664.1:c.166-11178_166-11176del	NM_001134664.1:c.166-11177_166-11176del	NM_001134664.1:c.166-11176del	NM_001134664.1:c.166-11176dup	NM_001134664.1:c.166-11177_166-11176dup	NM_001134664.1:c.166-11178_166-11176dup	NM_001134664.1:c.166-11179_166-11176dup	NM_001134664.1:c.166-11180_166-11176dup	NM_001134664.1:c.166-11197_166-11176dup	NM_001134664.1:c.166-11176_166-11175insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SAMD13 transcript variant 3	NM_001134664.2:c.166-11198=	NM_001134664.2:c.166-11187_166-11176del	NM_001134664.2:c.166-11186_166-11176del	NM_001134664.2:c.166-11185_166-11176del	NM_001134664.2:c.166-11184_166-11176del	NM_001134664.2:c.166-11183_166-11176del	NM_001134664.2:c.166-11182_166-11176del	NM_001134664.2:c.166-11181_166-11176del	NM_001134664.2:c.166-11180_166-11176del	NM_001134664.2:c.166-11179_166-11176del	NM_001134664.2:c.166-11178_166-11176del	NM_001134664.2:c.166-11177_166-11176del	NM_001134664.2:c.166-11176del	NM_001134664.2:c.166-11176dup	NM_001134664.2:c.166-11177_166-11176dup	NM_001134664.2:c.166-11178_166-11176dup	NM_001134664.2:c.166-11179_166-11176dup	NM_001134664.2:c.166-11180_166-11176dup	NM_001134664.2:c.166-11197_166-11176dup	NM_001134664.2:c.166-11176_166-11175insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SAMD13 transcript variant X1	XM_017000377.3:c.226-11198=	XM_017000377.3:c.226-11187_226-11176del	XM_017000377.3:c.226-11186_226-11176del	XM_017000377.3:c.226-11185_226-11176del	XM_017000377.3:c.226-11184_226-11176del	XM_017000377.3:c.226-11183_226-11176del	XM_017000377.3:c.226-11182_226-11176del	XM_017000377.3:c.226-11181_226-11176del	XM_017000377.3:c.226-11180_226-11176del	XM_017000377.3:c.226-11179_226-11176del	XM_017000377.3:c.226-11178_226-11176del	XM_017000377.3:c.226-11177_226-11176del	XM_017000377.3:c.226-11176del	XM_017000377.3:c.226-11176dup	XM_017000377.3:c.226-11177_226-11176dup	XM_017000377.3:c.226-11178_226-11176dup	XM_017000377.3:c.226-11179_226-11176dup	XM_017000377.3:c.226-11180_226-11176dup	XM_017000377.3:c.226-11197_226-11176dup	XM_017000377.3:c.226-11176_226-11175insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

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#.

55 SubSNP, 35 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss4283324	Mar 15, 2016 (147)
2	HUMANGENOME_JCVI	ss95235052	Dec 05, 2013 (138)
3	GMI	ss288005421	May 04, 2012 (137)
4	PJP	ss294589100	Oct 11, 2018 (152)
5	1000GENOMES	ss1367758970	Aug 21, 2014 (142)
6	EVA_GENOME_DK	ss1573975720	Apr 01, 2015 (144)
7	SWEGEN	ss2987139415	Nov 08, 2017 (151)
8	MCHAISSO	ss3064410818	Nov 08, 2017 (151)
9	PACBIO	ss3789116224	Jul 12, 2019 (153)
10	KHV_HUMAN_GENOMES	ss3799456416	Jul 12, 2019 (153)
11	EVA	ss3826275225	Apr 25, 2020 (154)
12	KOGIC	ss3944896837	Apr 25, 2020 (154)
13	KOGIC	ss3944896838	Apr 25, 2020 (154)
14	KOGIC	ss3944896839	Apr 25, 2020 (154)
15	KOGIC	ss3944896840	Apr 25, 2020 (154)
16	KOGIC	ss3944896841	Apr 25, 2020 (154)
17	GNOMAD	ss3997191834	Apr 25, 2021 (155)
18	GNOMAD	ss3997191835	Apr 25, 2021 (155)
19	GNOMAD	ss3997191836	Apr 25, 2021 (155)
20	GNOMAD	ss3997191837	Apr 25, 2021 (155)
21	GNOMAD	ss3997191838	Apr 25, 2021 (155)
22	GNOMAD	ss3997191839	Apr 25, 2021 (155)
23	GNOMAD	ss3997191840	Apr 25, 2021 (155)
24	GNOMAD	ss3997191841	Apr 25, 2021 (155)
25	GNOMAD	ss3997191842	Apr 25, 2021 (155)
26	GNOMAD	ss3997191843	Apr 25, 2021 (155)
27	GNOMAD	ss3997191844	Apr 25, 2021 (155)
28	GNOMAD	ss3997191845	Apr 25, 2021 (155)
29	GNOMAD	ss3997191846	Apr 25, 2021 (155)
30	GNOMAD	ss3997191847	Apr 25, 2021 (155)
31	GNOMAD	ss3997191848	Apr 25, 2021 (155)
32	GNOMAD	ss3997191849	Apr 25, 2021 (155)
33	GNOMAD	ss3997191850	Apr 25, 2021 (155)
34	TOMMO_GENOMICS	ss5144849280	Apr 25, 2021 (155)
35	TOMMO_GENOMICS	ss5144849281	Apr 25, 2021 (155)
36	TOMMO_GENOMICS	ss5144849282	Apr 25, 2021 (155)
37	TOMMO_GENOMICS	ss5144849283	Apr 25, 2021 (155)
38	TOMMO_GENOMICS	ss5144849284	Apr 25, 2021 (155)
39	1000G_HIGH_COVERAGE	ss5242969423	Oct 12, 2022 (156)
40	1000G_HIGH_COVERAGE	ss5242969424	Oct 12, 2022 (156)
41	1000G_HIGH_COVERAGE	ss5242969425	Oct 12, 2022 (156)
42	1000G_HIGH_COVERAGE	ss5242969426	Oct 12, 2022 (156)
43	1000G_HIGH_COVERAGE	ss5242969427	Oct 12, 2022 (156)
44	1000G_HIGH_COVERAGE	ss5242969428	Oct 12, 2022 (156)
45	HUGCELL_USP	ss5443959176	Oct 12, 2022 (156)
46	HUGCELL_USP	ss5443959177	Oct 12, 2022 (156)
47	HUGCELL_USP	ss5443959178	Oct 12, 2022 (156)
48	HUGCELL_USP	ss5443959179	Oct 12, 2022 (156)
49	HUGCELL_USP	ss5443959180	Oct 12, 2022 (156)
50	TOMMO_GENOMICS	ss5669876481	Oct 12, 2022 (156)
51	TOMMO_GENOMICS	ss5669876482	Oct 12, 2022 (156)
52	TOMMO_GENOMICS	ss5669876483	Oct 12, 2022 (156)
53	TOMMO_GENOMICS	ss5669876484	Oct 12, 2022 (156)
54	TOMMO_GENOMICS	ss5669876485	Oct 12, 2022 (156)
55	EVA	ss5909066098	Oct 12, 2022 (156)
56	1000Genomes	NC_000001.10 - 84804116	Oct 11, 2018 (152)
57	The Danish reference pan genome	NC_000001.10 - 84804116	Apr 25, 2020 (154)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 17292551 (NC_000001.11:84338432::T 44587/93474) Row 17292552 (NC_000001.11:84338432::TT 955/93602) Row 17292553 (NC_000001.11:84338432::TTT 30/93632)...	-	Apr 25, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 17292551 (NC_000001.11:84338432::T 44587/93474) Row 17292552 (NC_000001.11:84338432::TT 955/93602) Row 17292553 (NC_000001.11:84338432::TTT 30/93632)...	-	Apr 25, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 17292551 (NC_000001.11:84338432::T 44587/93474) Row 17292552 (NC_000001.11:84338432::TT 955/93602) Row 17292553 (NC_000001.11:84338432::TTT 30/93632)...	-	Apr 25, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 17292551 (NC_000001.11:84338432::T 44587/93474) Row 17292552 (NC_000001.11:84338432::TT 955/93602) Row 17292553 (NC_000001.11:84338432::TTT 30/93632)...	-	Apr 25, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 17292551 (NC_000001.11:84338432::T 44587/93474) Row 17292552 (NC_000001.11:84338432::TT 955/93602) Row 17292553 (NC_000001.11:84338432::TTT 30/93632)...	-	Apr 25, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 17292551 (NC_000001.11:84338432::T 44587/93474) Row 17292552 (NC_000001.11:84338432::TT 955/93602) Row 17292553 (NC_000001.11:84338432::TTT 30/93632)...	-	Apr 25, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 17292551 (NC_000001.11:84338432::T 44587/93474) Row 17292552 (NC_000001.11:84338432::TT 955/93602) Row 17292553 (NC_000001.11:84338432::TTT 30/93632)...	-	Apr 25, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 17292551 (NC_000001.11:84338432::T 44587/93474) Row 17292552 (NC_000001.11:84338432::TT 955/93602) Row 17292553 (NC_000001.11:84338432::TTT 30/93632)...	-	Apr 25, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 17292551 (NC_000001.11:84338432::T 44587/93474) Row 17292552 (NC_000001.11:84338432::TT 955/93602) Row 17292553 (NC_000001.11:84338432::TTT 30/93632)...	-	Apr 25, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 17292551 (NC_000001.11:84338432::T 44587/93474) Row 17292552 (NC_000001.11:84338432::TT 955/93602) Row 17292553 (NC_000001.11:84338432::TTT 30/93632)...	-	Apr 25, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 17292551 (NC_000001.11:84338432::T 44587/93474) Row 17292552 (NC_000001.11:84338432::TT 955/93602) Row 17292553 (NC_000001.11:84338432::TTT 30/93632)...	-	Apr 25, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 17292551 (NC_000001.11:84338432::T 44587/93474) Row 17292552 (NC_000001.11:84338432::TT 955/93602) Row 17292553 (NC_000001.11:84338432::TTT 30/93632)...	-	Apr 25, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 17292551 (NC_000001.11:84338432::T 44587/93474) Row 17292552 (NC_000001.11:84338432::TT 955/93602) Row 17292553 (NC_000001.11:84338432::TTT 30/93632)...	-	Apr 25, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 17292551 (NC_000001.11:84338432::T 44587/93474) Row 17292552 (NC_000001.11:84338432::TT 955/93602) Row 17292553 (NC_000001.11:84338432::TTT 30/93632)...	-	Apr 25, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 17292551 (NC_000001.11:84338432::T 44587/93474) Row 17292552 (NC_000001.11:84338432::TT 955/93602) Row 17292553 (NC_000001.11:84338432::TTT 30/93632)...	-	Apr 25, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 17292551 (NC_000001.11:84338432::T 44587/93474) Row 17292552 (NC_000001.11:84338432::TT 955/93602) Row 17292553 (NC_000001.11:84338432::TTT 30/93632)...	-	Apr 25, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 17292551 (NC_000001.11:84338432::T 44587/93474) Row 17292552 (NC_000001.11:84338432::TT 955/93602) Row 17292553 (NC_000001.11:84338432::TTT 30/93632)...	-	Apr 25, 2021 (155)
75	Korean Genome Project Submission ignored due to conflicting rows: Row 1274838 (NC_000001.11:84338441::T 784/1832) Row 1274839 (NC_000001.11:84338441::TT 127/1832) Row 1274840 (NC_000001.11:84338439:TT: 12/1832)...	-	Apr 25, 2020 (154)
76	Korean Genome Project Submission ignored due to conflicting rows: Row 1274838 (NC_000001.11:84338441::T 784/1832) Row 1274839 (NC_000001.11:84338441::TT 127/1832) Row 1274840 (NC_000001.11:84338439:TT: 12/1832)...	-	Apr 25, 2020 (154)
77	Korean Genome Project Submission ignored due to conflicting rows: Row 1274838 (NC_000001.11:84338441::T 784/1832) Row 1274839 (NC_000001.11:84338441::TT 127/1832) Row 1274840 (NC_000001.11:84338439:TT: 12/1832)...	-	Apr 25, 2020 (154)
78	Korean Genome Project Submission ignored due to conflicting rows: Row 1274838 (NC_000001.11:84338441::T 784/1832) Row 1274839 (NC_000001.11:84338441::TT 127/1832) Row 1274840 (NC_000001.11:84338439:TT: 12/1832)...	-	Apr 25, 2020 (154)
79	Korean Genome Project Submission ignored due to conflicting rows: Row 1274838 (NC_000001.11:84338441::T 784/1832) Row 1274839 (NC_000001.11:84338441::TT 127/1832) Row 1274840 (NC_000001.11:84338439:TT: 12/1832)...	-	Apr 25, 2020 (154)
80	8.3KJPN Submission ignored due to conflicting rows: Row 2818587 (NC_000001.10:84804115:TTTTTTTTT: 1443/16642) Row 2818588 (NC_000001.10:84804115::T 7743/16642) Row 2818589 (NC_000001.10:84804115:T: 24/16642)...	-	Apr 25, 2021 (155)
81	8.3KJPN Submission ignored due to conflicting rows: Row 2818587 (NC_000001.10:84804115:TTTTTTTTT: 1443/16642) Row 2818588 (NC_000001.10:84804115::T 7743/16642) Row 2818589 (NC_000001.10:84804115:T: 24/16642)...	-	Apr 25, 2021 (155)
82	8.3KJPN Submission ignored due to conflicting rows: Row 2818587 (NC_000001.10:84804115:TTTTTTTTT: 1443/16642) Row 2818588 (NC_000001.10:84804115::T 7743/16642) Row 2818589 (NC_000001.10:84804115:T: 24/16642)...	-	Apr 25, 2021 (155)
83	8.3KJPN Submission ignored due to conflicting rows: Row 2818587 (NC_000001.10:84804115:TTTTTTTTT: 1443/16642) Row 2818588 (NC_000001.10:84804115::T 7743/16642) Row 2818589 (NC_000001.10:84804115:T: 24/16642)...	-	Apr 25, 2021 (155)
84	8.3KJPN Submission ignored due to conflicting rows: Row 2818587 (NC_000001.10:84804115:TTTTTTTTT: 1443/16642) Row 2818588 (NC_000001.10:84804115::T 7743/16642) Row 2818589 (NC_000001.10:84804115:T: 24/16642)...	-	Apr 25, 2021 (155)
85	14KJPN Submission ignored due to conflicting rows: Row 3713585 (NC_000001.11:84338432::T 14195/28226) Row 3713586 (NC_000001.11:84338432:TTTTTTTTT: 2434/28226) Row 3713587 (NC_000001.11:84338432:TT: 54/28226)...	-	Oct 12, 2022 (156)
86	14KJPN Submission ignored due to conflicting rows: Row 3713585 (NC_000001.11:84338432::T 14195/28226) Row 3713586 (NC_000001.11:84338432:TTTTTTTTT: 2434/28226) Row 3713587 (NC_000001.11:84338432:TT: 54/28226)...	-	Oct 12, 2022 (156)
87	14KJPN Submission ignored due to conflicting rows: Row 3713585 (NC_000001.11:84338432::T 14195/28226) Row 3713586 (NC_000001.11:84338432:TTTTTTTTT: 2434/28226) Row 3713587 (NC_000001.11:84338432:TT: 54/28226)...	-	Oct 12, 2022 (156)
88	14KJPN Submission ignored due to conflicting rows: Row 3713585 (NC_000001.11:84338432::T 14195/28226) Row 3713586 (NC_000001.11:84338432:TTTTTTTTT: 2434/28226) Row 3713587 (NC_000001.11:84338432:TT: 54/28226)...	-	Oct 12, 2022 (156)
89	14KJPN Submission ignored due to conflicting rows: Row 3713585 (NC_000001.11:84338432::T 14195/28226) Row 3713586 (NC_000001.11:84338432:TTTTTTTTT: 2434/28226) Row 3713587 (NC_000001.11:84338432:TT: 54/28226)...	-	Oct 12, 2022 (156)
90	ALFA	NC_000001.11 - 84338433	Apr 25, 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
ss3997191850	NC_000001.11:84338432:TTTTTTTTTTTT:	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
13670567272	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss3997191849	NC_000001.11:84338432:TTTTTTTTTTT:	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
13670567272	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss3997191848	NC_000001.11:84338432:TTTTTTTTTT:	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
13670567272	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss288005421	NC_000001.9:84576703:TTTTTTTTT:	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
2449882, ss1367758970, ss2987139415, ss5144849280	NC_000001.10:84804115:TTTTTTTTT:	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss3064410818, ss3799456416, ss3944896840, ss3997191847, ss5242969424, ss5443959180, ss5669876482, ss5909066098	NC_000001.11:84338432:TTTTTTTTT:	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
13670567272	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss4283324	NT_032977.9:54776039:TTTTTTTTT:	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
13670567272	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3997191846	NC_000001.11:84338432:TTTTTTT:	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
13670567272	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
13670567272	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3997191845	NC_000001.11:84338432:TTTTT:	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
13670567272	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3997191844	NC_000001.11:84338432:TTTT:	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
13670567272	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3997191843, ss5242969428	NC_000001.11:84338432:TTT:	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
13670567272	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss3826275225, ss5144849283	NC_000001.10:84804115:TT:	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss3997191842, ss5242969426, ss5443959179, ss5669876483	NC_000001.11:84338432:TT:	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
13670567272	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss3944896839	NC_000001.11:84338439:TT:	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss5144849282	NC_000001.10:84804115:T:	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss3997191841, ss5242969427, ss5443959176, ss5669876484	NC_000001.11:84338432:T:	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
13670567272	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss3944896841	NC_000001.11:84338440:T:	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss294589100	NC_000001.9:84576704::T	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
154673, ss1573975720, ss3789116224, ss5144849281	NC_000001.10:84804115::T	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3997191834, ss5242969423, ss5443959177, ss5669876481	NC_000001.11:84338432::T	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
13670567272	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3944896837	NC_000001.11:84338441::T	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss95235052	NT_032977.9:54776056::T	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5144849284	NC_000001.10:84804115::TT	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3997191835, ss5242969425, ss5443959178, ss5669876485	NC_000001.11:84338432::TT	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
13670567272	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3944896838	NC_000001.11:84338441::TT	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3997191836	NC_000001.11:84338432::TTT	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
13670567272	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3997191837	NC_000001.11:84338432::TTTT	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
13670567272	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3997191838	NC_000001.11:84338432::TTTTT	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
13670567272	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3997191839	NC_000001.11:84338432::TTTTTTTTTTT… NC_000001.11:84338432::TTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3997191840	NC_000001.11:84338432::TTTTTTTTTTT… NC_000001.11:84338432::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:84338432:TTTTTTTTTTTT… NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(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 rs201864672

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs201864672