Name: rs373510441
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.

rs373510441

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:17671609-17671633 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: del(A)₁₃ / del(A)₉ / del(A)₈ / del…
del(A)₁₃ / del(A)₉ / del(A)₈ / del(A)₇ / del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅
Variation Type: Indel Insertion and Deletion
Frequency: delAA=0.2961 (1290/4356, ALFA)
(A)₂₅=0.32 (11/34, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SMC6 : 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	4356	AAAAAAAAAAAAAAAAAAAAAAAAA=0.3173	AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0005, AAAAAAAAAAAAAAAAAAAAAA=0.2307, AAAAAAAAAAAAAAAAAAAAAAA=0.2961, AAAAAAAAAAAAAAAAAAAAAAAA=0.1545, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0009, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	0.171429	0.148052	0.680519	32
European	Sub	4344	AAAAAAAAAAAAAAAAAAAAAAAAA=0.3165	AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0005, AAAAAAAAAAAAAAAAAAAAAA=0.2309, AAAAAAAAAAAAAAAAAAAAAAA=0.2965, AAAAAAAAAAAAAAAAAAAAAAAA=0.1547, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0009, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	0.169492	0.148631	0.681877	32
African	Sub	4	AAAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
African Others	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
African American	Sub	4	AAAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
East Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 2	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
South Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other	Sub	8	AAAAAAAAAAAAAAAAAAAAAAAAA=0.4	AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.2, AAAAAAAAAAAAAAAAAAAAAAA=0.2, AAAAAAAAAAAAAAAAAAAAAAAA=0.1, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	0.0	0.0	1.0	1

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	4356	(A)₂₅=0.3173	del(A)₁₃=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0005, delAAA=0.2307, delAA=0.2961, delA=0.1545, dupA=0.0009, dupAA=0.0000, dupAAA=0.0000, dup(A)₄=0.0000, dup(A)₅=0.0000
Allele Frequency Aggregator	European	Sub	4344	(A)₂₅=0.3165	del(A)₁₃=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0005, delAAA=0.2309, delAA=0.2965, delA=0.1547, dupA=0.0009, dupAA=0.0000, dupAAA=0.0000, dup(A)₄=0.0000, dup(A)₅=0.0000
Allele Frequency Aggregator	Other	Sub	8	(A)₂₅=0.4	del(A)₁₃=0.0, del(A)₉=0.0, del(A)₈=0.0, del(A)₇=0.0, del(A)₆=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.2, delAA=0.2, delA=0.1, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₄=0.0, dup(A)₅=0.0
Allele Frequency Aggregator	African	Sub	4	(A)₂₅=1.0	del(A)₁₃=0.0, del(A)₉=0.0, del(A)₈=0.0, del(A)₇=0.0, del(A)₆=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₄=0.0, dup(A)₅=0.0
Allele Frequency Aggregator	Latin American 1	Sub	0	(A)₂₅=0	del(A)₁₃=0, del(A)₉=0, del(A)₈=0, del(A)₇=0, del(A)₆=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0, dup(A)₄=0, dup(A)₅=0
Allele Frequency Aggregator	Latin American 2	Sub	0	(A)₂₅=0	del(A)₁₃=0, del(A)₉=0, del(A)₈=0, del(A)₇=0, del(A)₆=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0, dup(A)₄=0, dup(A)₅=0
Allele Frequency Aggregator	South Asian	Sub	0	(A)₂₅=0	del(A)₁₃=0, del(A)₉=0, del(A)₈=0, del(A)₇=0, del(A)₆=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0, dup(A)₄=0, dup(A)₅=0
Allele Frequency Aggregator	Asian	Sub	0	(A)₂₅=0	del(A)₁₃=0, del(A)₉=0, del(A)₈=0, del(A)₇=0, del(A)₆=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0, dup(A)₄=0, dup(A)₅=0
The Danish reference pan genome	Danish	Study-wide	34	(A)₂₅=0.32	delA=0.68

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.17671621_17671633del
GRCh38.p14 chr 2	NC_000002.12:g.17671625_17671633del
GRCh38.p14 chr 2	NC_000002.12:g.17671626_17671633del
GRCh38.p14 chr 2	NC_000002.12:g.17671627_17671633del
GRCh38.p14 chr 2	NC_000002.12:g.17671628_17671633del
GRCh38.p14 chr 2	NC_000002.12:g.17671629_17671633del
GRCh38.p14 chr 2	NC_000002.12:g.17671630_17671633del
GRCh38.p14 chr 2	NC_000002.12:g.17671631_17671633del
GRCh38.p14 chr 2	NC_000002.12:g.17671632_17671633del
GRCh38.p14 chr 2	NC_000002.12:g.17671633del
GRCh38.p14 chr 2	NC_000002.12:g.17671633dup
GRCh38.p14 chr 2	NC_000002.12:g.17671632_17671633dup
GRCh38.p14 chr 2	NC_000002.12:g.17671631_17671633dup
GRCh38.p14 chr 2	NC_000002.12:g.17671630_17671633dup
GRCh38.p14 chr 2	NC_000002.12:g.17671629_17671633dup
GRCh37.p13 chr 2	NC_000002.11:g.17852888_17852900del
GRCh37.p13 chr 2	NC_000002.11:g.17852892_17852900del
GRCh37.p13 chr 2	NC_000002.11:g.17852893_17852900del
GRCh37.p13 chr 2	NC_000002.11:g.17852894_17852900del
GRCh37.p13 chr 2	NC_000002.11:g.17852895_17852900del
GRCh37.p13 chr 2	NC_000002.11:g.17852896_17852900del
GRCh37.p13 chr 2	NC_000002.11:g.17852897_17852900del
GRCh37.p13 chr 2	NC_000002.11:g.17852898_17852900del
GRCh37.p13 chr 2	NC_000002.11:g.17852899_17852900del
GRCh37.p13 chr 2	NC_000002.11:g.17852900del
GRCh37.p13 chr 2	NC_000002.11:g.17852900dup
GRCh37.p13 chr 2	NC_000002.11:g.17852899_17852900dup
GRCh37.p13 chr 2	NC_000002.11:g.17852898_17852900dup
GRCh37.p13 chr 2	NC_000002.11:g.17852897_17852900dup
GRCh37.p13 chr 2	NC_000002.11:g.17852896_17852900dup

Gene: SMC6, structural maintenance of chromosomes 6 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SMC6 transcript variant 1	NM_001142286.2:c.2911-104… NM_001142286.2:c.2911-1046_2911-1034del	N/A	Intron Variant
SMC6 transcript variant 2	NM_024624.6:c.2911-1046_2… NM_024624.6:c.2911-1046_2911-1034del	N/A	Intron Variant
SMC6 transcript variant X9	XM_011533107.4:c.2968-104… XM_011533107.4:c.2968-1046_2968-1034del	N/A	Intron Variant
SMC6 transcript variant X3	XM_011533108.4:c.2887-104… XM_011533108.4:c.2887-1046_2887-1034del	N/A	Intron Variant
SMC6 transcript variant X1	XM_017004913.3:c.2968-104… XM_017004913.3:c.2968-1046_2968-1034del	N/A	Intron Variant
SMC6 transcript variant X2	XM_017004914.2:c.2968-104… XM_017004914.2:c.2968-1046_2968-1034del	N/A	Intron Variant
SMC6 transcript variant X11	XM_017004915.3:c.2911-104… XM_017004915.3:c.2911-1046_2911-1034del	N/A	Intron Variant
SMC6 transcript variant X5	XM_017004916.3:c.2830-104… XM_017004916.3:c.2830-1046_2830-1034del	N/A	Intron Variant
SMC6 transcript variant X10	XM_047445833.1:c.2968-104… XM_047445833.1:c.2968-1046_2968-1034del	N/A	Intron Variant
SMC6 transcript variant X4	XM_047445834.1:c.2887-104… XM_047445834.1:c.2887-1046_2887-1034del	N/A	Intron Variant
SMC6 transcript variant X12	XM_047445835.1:c.2887-104… XM_047445835.1:c.2887-1046_2887-1034del	N/A	Intron Variant
SMC6 transcript variant X13	XM_047445836.1:c.2887-104… XM_047445836.1:c.2887-1046_2887-1034del	N/A	Intron Variant
SMC6 transcript variant X6	XM_047445837.1:c.2830-104… XM_047445837.1:c.2830-1046_2830-1034del	N/A	Intron Variant
SMC6 transcript variant X14	XM_047445838.1:c.2830-104… XM_047445838.1:c.2830-1046_2830-1034del	N/A	Intron Variant
SMC6 transcript variant X7	XM_047445839.1:c.	N/A	Genic Downstream Transcript Variant
SMC6 transcript variant X8	XM_047445840.1:c.	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	(A)₂₅=	del(A)₁₃	del(A)₉	del(A)₈	del(A)₇	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅
GRCh38.p14 chr 2	NC_000002.12:g.17671609_17671633=	NC_000002.12:g.17671621_17671633del	NC_000002.12:g.17671625_17671633del	NC_000002.12:g.17671626_17671633del	NC_000002.12:g.17671627_17671633del	NC_000002.12:g.17671628_17671633del	NC_000002.12:g.17671629_17671633del	NC_000002.12:g.17671630_17671633del	NC_000002.12:g.17671631_17671633del	NC_000002.12:g.17671632_17671633del	NC_000002.12:g.17671633del	NC_000002.12:g.17671633dup	NC_000002.12:g.17671632_17671633dup	NC_000002.12:g.17671631_17671633dup	NC_000002.12:g.17671630_17671633dup	NC_000002.12:g.17671629_17671633dup
GRCh37.p13 chr 2	NC_000002.11:g.17852876_17852900=	NC_000002.11:g.17852888_17852900del	NC_000002.11:g.17852892_17852900del	NC_000002.11:g.17852893_17852900del	NC_000002.11:g.17852894_17852900del	NC_000002.11:g.17852895_17852900del	NC_000002.11:g.17852896_17852900del	NC_000002.11:g.17852897_17852900del	NC_000002.11:g.17852898_17852900del	NC_000002.11:g.17852899_17852900del	NC_000002.11:g.17852900del	NC_000002.11:g.17852900dup	NC_000002.11:g.17852899_17852900dup	NC_000002.11:g.17852898_17852900dup	NC_000002.11:g.17852897_17852900dup	NC_000002.11:g.17852896_17852900dup
SMC6 transcript variant 1	NM_001142286.1:c.2911-1034=	NM_001142286.1:c.2911-1046_2911-1034del	NM_001142286.1:c.2911-1042_2911-1034del	NM_001142286.1:c.2911-1041_2911-1034del	NM_001142286.1:c.2911-1040_2911-1034del	NM_001142286.1:c.2911-1039_2911-1034del	NM_001142286.1:c.2911-1038_2911-1034del	NM_001142286.1:c.2911-1037_2911-1034del	NM_001142286.1:c.2911-1036_2911-1034del	NM_001142286.1:c.2911-1035_2911-1034del	NM_001142286.1:c.2911-1034del	NM_001142286.1:c.2911-1034dup	NM_001142286.1:c.2911-1035_2911-1034dup	NM_001142286.1:c.2911-1036_2911-1034dup	NM_001142286.1:c.2911-1037_2911-1034dup	NM_001142286.1:c.2911-1038_2911-1034dup
SMC6 transcript variant 1	NM_001142286.2:c.2911-1034=	NM_001142286.2:c.2911-1046_2911-1034del	NM_001142286.2:c.2911-1042_2911-1034del	NM_001142286.2:c.2911-1041_2911-1034del	NM_001142286.2:c.2911-1040_2911-1034del	NM_001142286.2:c.2911-1039_2911-1034del	NM_001142286.2:c.2911-1038_2911-1034del	NM_001142286.2:c.2911-1037_2911-1034del	NM_001142286.2:c.2911-1036_2911-1034del	NM_001142286.2:c.2911-1035_2911-1034del	NM_001142286.2:c.2911-1034del	NM_001142286.2:c.2911-1034dup	NM_001142286.2:c.2911-1035_2911-1034dup	NM_001142286.2:c.2911-1036_2911-1034dup	NM_001142286.2:c.2911-1037_2911-1034dup	NM_001142286.2:c.2911-1038_2911-1034dup
SMC6 transcript variant 2	NM_024624.5:c.2911-1034=	NM_024624.5:c.2911-1046_2911-1034del	NM_024624.5:c.2911-1042_2911-1034del	NM_024624.5:c.2911-1041_2911-1034del	NM_024624.5:c.2911-1040_2911-1034del	NM_024624.5:c.2911-1039_2911-1034del	NM_024624.5:c.2911-1038_2911-1034del	NM_024624.5:c.2911-1037_2911-1034del	NM_024624.5:c.2911-1036_2911-1034del	NM_024624.5:c.2911-1035_2911-1034del	NM_024624.5:c.2911-1034del	NM_024624.5:c.2911-1034dup	NM_024624.5:c.2911-1035_2911-1034dup	NM_024624.5:c.2911-1036_2911-1034dup	NM_024624.5:c.2911-1037_2911-1034dup	NM_024624.5:c.2911-1038_2911-1034dup
SMC6 transcript variant 2	NM_024624.6:c.2911-1034=	NM_024624.6:c.2911-1046_2911-1034del	NM_024624.6:c.2911-1042_2911-1034del	NM_024624.6:c.2911-1041_2911-1034del	NM_024624.6:c.2911-1040_2911-1034del	NM_024624.6:c.2911-1039_2911-1034del	NM_024624.6:c.2911-1038_2911-1034del	NM_024624.6:c.2911-1037_2911-1034del	NM_024624.6:c.2911-1036_2911-1034del	NM_024624.6:c.2911-1035_2911-1034del	NM_024624.6:c.2911-1034del	NM_024624.6:c.2911-1034dup	NM_024624.6:c.2911-1035_2911-1034dup	NM_024624.6:c.2911-1036_2911-1034dup	NM_024624.6:c.2911-1037_2911-1034dup	NM_024624.6:c.2911-1038_2911-1034dup
SMC6 transcript variant X1	XM_005262627.1:c.3055-1034=	XM_005262627.1:c.3055-1046_3055-1034del	XM_005262627.1:c.3055-1042_3055-1034del	XM_005262627.1:c.3055-1041_3055-1034del	XM_005262627.1:c.3055-1040_3055-1034del	XM_005262627.1:c.3055-1039_3055-1034del	XM_005262627.1:c.3055-1038_3055-1034del	XM_005262627.1:c.3055-1037_3055-1034del	XM_005262627.1:c.3055-1036_3055-1034del	XM_005262627.1:c.3055-1035_3055-1034del	XM_005262627.1:c.3055-1034del	XM_005262627.1:c.3055-1034dup	XM_005262627.1:c.3055-1035_3055-1034dup	XM_005262627.1:c.3055-1036_3055-1034dup	XM_005262627.1:c.3055-1037_3055-1034dup	XM_005262627.1:c.3055-1038_3055-1034dup
SMC6 transcript variant X2	XM_005262628.1:c.2977-1034=	XM_005262628.1:c.2977-1046_2977-1034del	XM_005262628.1:c.2977-1042_2977-1034del	XM_005262628.1:c.2977-1041_2977-1034del	XM_005262628.1:c.2977-1040_2977-1034del	XM_005262628.1:c.2977-1039_2977-1034del	XM_005262628.1:c.2977-1038_2977-1034del	XM_005262628.1:c.2977-1037_2977-1034del	XM_005262628.1:c.2977-1036_2977-1034del	XM_005262628.1:c.2977-1035_2977-1034del	XM_005262628.1:c.2977-1034del	XM_005262628.1:c.2977-1034dup	XM_005262628.1:c.2977-1035_2977-1034dup	XM_005262628.1:c.2977-1036_2977-1034dup	XM_005262628.1:c.2977-1037_2977-1034dup	XM_005262628.1:c.2977-1038_2977-1034dup
SMC6 transcript variant X9	XM_011533107.4:c.2968-1034=	XM_011533107.4:c.2968-1046_2968-1034del	XM_011533107.4:c.2968-1042_2968-1034del	XM_011533107.4:c.2968-1041_2968-1034del	XM_011533107.4:c.2968-1040_2968-1034del	XM_011533107.4:c.2968-1039_2968-1034del	XM_011533107.4:c.2968-1038_2968-1034del	XM_011533107.4:c.2968-1037_2968-1034del	XM_011533107.4:c.2968-1036_2968-1034del	XM_011533107.4:c.2968-1035_2968-1034del	XM_011533107.4:c.2968-1034del	XM_011533107.4:c.2968-1034dup	XM_011533107.4:c.2968-1035_2968-1034dup	XM_011533107.4:c.2968-1036_2968-1034dup	XM_011533107.4:c.2968-1037_2968-1034dup	XM_011533107.4:c.2968-1038_2968-1034dup
SMC6 transcript variant X3	XM_011533108.4:c.2887-1034=	XM_011533108.4:c.2887-1046_2887-1034del	XM_011533108.4:c.2887-1042_2887-1034del	XM_011533108.4:c.2887-1041_2887-1034del	XM_011533108.4:c.2887-1040_2887-1034del	XM_011533108.4:c.2887-1039_2887-1034del	XM_011533108.4:c.2887-1038_2887-1034del	XM_011533108.4:c.2887-1037_2887-1034del	XM_011533108.4:c.2887-1036_2887-1034del	XM_011533108.4:c.2887-1035_2887-1034del	XM_011533108.4:c.2887-1034del	XM_011533108.4:c.2887-1034dup	XM_011533108.4:c.2887-1035_2887-1034dup	XM_011533108.4:c.2887-1036_2887-1034dup	XM_011533108.4:c.2887-1037_2887-1034dup	XM_011533108.4:c.2887-1038_2887-1034dup
SMC6 transcript variant X1	XM_017004913.3:c.2968-1034=	XM_017004913.3:c.2968-1046_2968-1034del	XM_017004913.3:c.2968-1042_2968-1034del	XM_017004913.3:c.2968-1041_2968-1034del	XM_017004913.3:c.2968-1040_2968-1034del	XM_017004913.3:c.2968-1039_2968-1034del	XM_017004913.3:c.2968-1038_2968-1034del	XM_017004913.3:c.2968-1037_2968-1034del	XM_017004913.3:c.2968-1036_2968-1034del	XM_017004913.3:c.2968-1035_2968-1034del	XM_017004913.3:c.2968-1034del	XM_017004913.3:c.2968-1034dup	XM_017004913.3:c.2968-1035_2968-1034dup	XM_017004913.3:c.2968-1036_2968-1034dup	XM_017004913.3:c.2968-1037_2968-1034dup	XM_017004913.3:c.2968-1038_2968-1034dup
SMC6 transcript variant X2	XM_017004914.2:c.2968-1034=	XM_017004914.2:c.2968-1046_2968-1034del	XM_017004914.2:c.2968-1042_2968-1034del	XM_017004914.2:c.2968-1041_2968-1034del	XM_017004914.2:c.2968-1040_2968-1034del	XM_017004914.2:c.2968-1039_2968-1034del	XM_017004914.2:c.2968-1038_2968-1034del	XM_017004914.2:c.2968-1037_2968-1034del	XM_017004914.2:c.2968-1036_2968-1034del	XM_017004914.2:c.2968-1035_2968-1034del	XM_017004914.2:c.2968-1034del	XM_017004914.2:c.2968-1034dup	XM_017004914.2:c.2968-1035_2968-1034dup	XM_017004914.2:c.2968-1036_2968-1034dup	XM_017004914.2:c.2968-1037_2968-1034dup	XM_017004914.2:c.2968-1038_2968-1034dup
SMC6 transcript variant X11	XM_017004915.3:c.2911-1034=	XM_017004915.3:c.2911-1046_2911-1034del	XM_017004915.3:c.2911-1042_2911-1034del	XM_017004915.3:c.2911-1041_2911-1034del	XM_017004915.3:c.2911-1040_2911-1034del	XM_017004915.3:c.2911-1039_2911-1034del	XM_017004915.3:c.2911-1038_2911-1034del	XM_017004915.3:c.2911-1037_2911-1034del	XM_017004915.3:c.2911-1036_2911-1034del	XM_017004915.3:c.2911-1035_2911-1034del	XM_017004915.3:c.2911-1034del	XM_017004915.3:c.2911-1034dup	XM_017004915.3:c.2911-1035_2911-1034dup	XM_017004915.3:c.2911-1036_2911-1034dup	XM_017004915.3:c.2911-1037_2911-1034dup	XM_017004915.3:c.2911-1038_2911-1034dup
SMC6 transcript variant X5	XM_017004916.3:c.2830-1034=	XM_017004916.3:c.2830-1046_2830-1034del	XM_017004916.3:c.2830-1042_2830-1034del	XM_017004916.3:c.2830-1041_2830-1034del	XM_017004916.3:c.2830-1040_2830-1034del	XM_017004916.3:c.2830-1039_2830-1034del	XM_017004916.3:c.2830-1038_2830-1034del	XM_017004916.3:c.2830-1037_2830-1034del	XM_017004916.3:c.2830-1036_2830-1034del	XM_017004916.3:c.2830-1035_2830-1034del	XM_017004916.3:c.2830-1034del	XM_017004916.3:c.2830-1034dup	XM_017004916.3:c.2830-1035_2830-1034dup	XM_017004916.3:c.2830-1036_2830-1034dup	XM_017004916.3:c.2830-1037_2830-1034dup	XM_017004916.3:c.2830-1038_2830-1034dup
SMC6 transcript variant X10	XM_047445833.1:c.2968-1034=	XM_047445833.1:c.2968-1046_2968-1034del	XM_047445833.1:c.2968-1042_2968-1034del	XM_047445833.1:c.2968-1041_2968-1034del	XM_047445833.1:c.2968-1040_2968-1034del	XM_047445833.1:c.2968-1039_2968-1034del	XM_047445833.1:c.2968-1038_2968-1034del	XM_047445833.1:c.2968-1037_2968-1034del	XM_047445833.1:c.2968-1036_2968-1034del	XM_047445833.1:c.2968-1035_2968-1034del	XM_047445833.1:c.2968-1034del	XM_047445833.1:c.2968-1034dup	XM_047445833.1:c.2968-1035_2968-1034dup	XM_047445833.1:c.2968-1036_2968-1034dup	XM_047445833.1:c.2968-1037_2968-1034dup	XM_047445833.1:c.2968-1038_2968-1034dup
SMC6 transcript variant X4	XM_047445834.1:c.2887-1034=	XM_047445834.1:c.2887-1046_2887-1034del	XM_047445834.1:c.2887-1042_2887-1034del	XM_047445834.1:c.2887-1041_2887-1034del	XM_047445834.1:c.2887-1040_2887-1034del	XM_047445834.1:c.2887-1039_2887-1034del	XM_047445834.1:c.2887-1038_2887-1034del	XM_047445834.1:c.2887-1037_2887-1034del	XM_047445834.1:c.2887-1036_2887-1034del	XM_047445834.1:c.2887-1035_2887-1034del	XM_047445834.1:c.2887-1034del	XM_047445834.1:c.2887-1034dup	XM_047445834.1:c.2887-1035_2887-1034dup	XM_047445834.1:c.2887-1036_2887-1034dup	XM_047445834.1:c.2887-1037_2887-1034dup	XM_047445834.1:c.2887-1038_2887-1034dup
SMC6 transcript variant X12	XM_047445835.1:c.2887-1034=	XM_047445835.1:c.2887-1046_2887-1034del	XM_047445835.1:c.2887-1042_2887-1034del	XM_047445835.1:c.2887-1041_2887-1034del	XM_047445835.1:c.2887-1040_2887-1034del	XM_047445835.1:c.2887-1039_2887-1034del	XM_047445835.1:c.2887-1038_2887-1034del	XM_047445835.1:c.2887-1037_2887-1034del	XM_047445835.1:c.2887-1036_2887-1034del	XM_047445835.1:c.2887-1035_2887-1034del	XM_047445835.1:c.2887-1034del	XM_047445835.1:c.2887-1034dup	XM_047445835.1:c.2887-1035_2887-1034dup	XM_047445835.1:c.2887-1036_2887-1034dup	XM_047445835.1:c.2887-1037_2887-1034dup	XM_047445835.1:c.2887-1038_2887-1034dup
SMC6 transcript variant X13	XM_047445836.1:c.2887-1034=	XM_047445836.1:c.2887-1046_2887-1034del	XM_047445836.1:c.2887-1042_2887-1034del	XM_047445836.1:c.2887-1041_2887-1034del	XM_047445836.1:c.2887-1040_2887-1034del	XM_047445836.1:c.2887-1039_2887-1034del	XM_047445836.1:c.2887-1038_2887-1034del	XM_047445836.1:c.2887-1037_2887-1034del	XM_047445836.1:c.2887-1036_2887-1034del	XM_047445836.1:c.2887-1035_2887-1034del	XM_047445836.1:c.2887-1034del	XM_047445836.1:c.2887-1034dup	XM_047445836.1:c.2887-1035_2887-1034dup	XM_047445836.1:c.2887-1036_2887-1034dup	XM_047445836.1:c.2887-1037_2887-1034dup	XM_047445836.1:c.2887-1038_2887-1034dup
SMC6 transcript variant X6	XM_047445837.1:c.2830-1034=	XM_047445837.1:c.2830-1046_2830-1034del	XM_047445837.1:c.2830-1042_2830-1034del	XM_047445837.1:c.2830-1041_2830-1034del	XM_047445837.1:c.2830-1040_2830-1034del	XM_047445837.1:c.2830-1039_2830-1034del	XM_047445837.1:c.2830-1038_2830-1034del	XM_047445837.1:c.2830-1037_2830-1034del	XM_047445837.1:c.2830-1036_2830-1034del	XM_047445837.1:c.2830-1035_2830-1034del	XM_047445837.1:c.2830-1034del	XM_047445837.1:c.2830-1034dup	XM_047445837.1:c.2830-1035_2830-1034dup	XM_047445837.1:c.2830-1036_2830-1034dup	XM_047445837.1:c.2830-1037_2830-1034dup	XM_047445837.1:c.2830-1038_2830-1034dup
SMC6 transcript variant X14	XM_047445838.1:c.2830-1034=	XM_047445838.1:c.2830-1046_2830-1034del	XM_047445838.1:c.2830-1042_2830-1034del	XM_047445838.1:c.2830-1041_2830-1034del	XM_047445838.1:c.2830-1040_2830-1034del	XM_047445838.1:c.2830-1039_2830-1034del	XM_047445838.1:c.2830-1038_2830-1034del	XM_047445838.1:c.2830-1037_2830-1034del	XM_047445838.1:c.2830-1036_2830-1034del	XM_047445838.1:c.2830-1035_2830-1034del	XM_047445838.1:c.2830-1034del	XM_047445838.1:c.2830-1034dup	XM_047445838.1:c.2830-1035_2830-1034dup	XM_047445838.1:c.2830-1036_2830-1034dup	XM_047445838.1:c.2830-1037_2830-1034dup	XM_047445838.1:c.2830-1038_2830-1034dup

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

46 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss4296618	Mar 15, 2016 (147)
2	HUMANGENOME_JCVI	ss95265617	Mar 15, 2016 (147)
3	PJP	ss294974294	Aug 21, 2014 (142)
4	BILGI_BIOE	ss666139980	Apr 25, 2013 (138)
5	EVA_GENOME_DK	ss1575360817	Apr 01, 2015 (144)
6	SWEGEN	ss2989063277	Nov 08, 2017 (151)
7	MCHAISSO	ss3064777897	Nov 08, 2017 (151)
8	URBANLAB	ss3646977063	Oct 11, 2018 (152)
9	EVA_DECODE	ss3703356229	Jul 12, 2019 (153)
10	EVA_DECODE	ss3703356230	Jul 12, 2019 (153)
11	EVA_DECODE	ss3703356231	Jul 12, 2019 (153)
12	EVA_DECODE	ss3703356232	Jul 12, 2019 (153)
13	EVA_DECODE	ss3703356233	Jul 12, 2019 (153)
14	EVA_DECODE	ss3703356234	Jul 12, 2019 (153)
15	PACBIO	ss3783793299	Jul 12, 2019 (153)
16	PACBIO	ss3789392387	Jul 12, 2019 (153)
17	PACBIO	ss3794265114	Jul 12, 2019 (153)
18	EVA	ss3826847154	Apr 25, 2020 (154)
19	GNOMAD	ss4036434214	Apr 26, 2021 (155)
20	GNOMAD	ss4036434215	Apr 26, 2021 (155)
21	GNOMAD	ss4036434216	Apr 26, 2021 (155)
22	GNOMAD	ss4036434217	Apr 26, 2021 (155)
23	GNOMAD	ss4036434218	Apr 26, 2021 (155)
24	GNOMAD	ss4036434219	Apr 26, 2021 (155)
25	GNOMAD	ss4036434220	Apr 26, 2021 (155)
26	GNOMAD	ss4036434221	Apr 26, 2021 (155)
27	GNOMAD	ss4036434222	Apr 26, 2021 (155)
28	TOMMO_GENOMICS	ss5150108512	Apr 26, 2021 (155)
29	TOMMO_GENOMICS	ss5150108513	Apr 26, 2021 (155)
30	TOMMO_GENOMICS	ss5150108514	Apr 26, 2021 (155)
31	TOMMO_GENOMICS	ss5150108515	Apr 26, 2021 (155)
32	1000G_HIGH_COVERAGE	ss5247098974	Oct 12, 2022 (156)
33	1000G_HIGH_COVERAGE	ss5247098975	Oct 12, 2022 (156)
34	1000G_HIGH_COVERAGE	ss5247098976	Oct 12, 2022 (156)
35	1000G_HIGH_COVERAGE	ss5247098977	Oct 12, 2022 (156)
36	1000G_HIGH_COVERAGE	ss5247098978	Oct 12, 2022 (156)
37	1000G_HIGH_COVERAGE	ss5247098979	Oct 12, 2022 (156)
38	HUGCELL_USP	ss5447394432	Oct 12, 2022 (156)
39	HUGCELL_USP	ss5447394433	Oct 12, 2022 (156)
40	HUGCELL_USP	ss5447394434	Oct 12, 2022 (156)
41	HUGCELL_USP	ss5447394435	Oct 12, 2022 (156)
42	TOMMO_GENOMICS	ss5678365869	Oct 12, 2022 (156)
43	TOMMO_GENOMICS	ss5678365870	Oct 12, 2022 (156)
44	TOMMO_GENOMICS	ss5678365871	Oct 12, 2022 (156)
45	TOMMO_GENOMICS	ss5678365872	Oct 12, 2022 (156)
46	TOMMO_GENOMICS	ss5678365873	Oct 12, 2022 (156)
47	The Danish reference pan genome	NC_000002.11 - 17852876	Apr 25, 2020 (154)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 49966738 (NC_000002.12:17671608::A 416/76402) Row 49966739 (NC_000002.12:17671608::AAA 100/76412) Row 49966740 (NC_000002.12:17671608::AAAA 9/76410)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 49966738 (NC_000002.12:17671608::A 416/76402) Row 49966739 (NC_000002.12:17671608::AAA 100/76412) Row 49966740 (NC_000002.12:17671608::AAAA 9/76410)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 49966738 (NC_000002.12:17671608::A 416/76402) Row 49966739 (NC_000002.12:17671608::AAA 100/76412) Row 49966740 (NC_000002.12:17671608::AAAA 9/76410)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 49966738 (NC_000002.12:17671608::A 416/76402) Row 49966739 (NC_000002.12:17671608::AAA 100/76412) Row 49966740 (NC_000002.12:17671608::AAAA 9/76410)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 49966738 (NC_000002.12:17671608::A 416/76402) Row 49966739 (NC_000002.12:17671608::AAA 100/76412) Row 49966740 (NC_000002.12:17671608::AAAA 9/76410)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 49966738 (NC_000002.12:17671608::A 416/76402) Row 49966739 (NC_000002.12:17671608::AAA 100/76412) Row 49966740 (NC_000002.12:17671608::AAAA 9/76410)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 49966738 (NC_000002.12:17671608::A 416/76402) Row 49966739 (NC_000002.12:17671608::AAA 100/76412) Row 49966740 (NC_000002.12:17671608::AAAA 9/76410)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 49966738 (NC_000002.12:17671608::A 416/76402) Row 49966739 (NC_000002.12:17671608::AAA 100/76412) Row 49966740 (NC_000002.12:17671608::AAAA 9/76410)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 49966738 (NC_000002.12:17671608::A 416/76402) Row 49966739 (NC_000002.12:17671608::AAA 100/76412) Row 49966740 (NC_000002.12:17671608::AAAA 9/76410)...	-	Apr 26, 2021 (155)
57	8.3KJPN Submission ignored due to conflicting rows: Row 8077819 (NC_000002.11:17852875:A: 11215/16478) Row 8077820 (NC_000002.11:17852875:AA: 1909/16478) Row 8077821 (NC_000002.11:17852875:AAA: 969/16478)...	-	Apr 26, 2021 (155)
58	8.3KJPN Submission ignored due to conflicting rows: Row 8077819 (NC_000002.11:17852875:A: 11215/16478) Row 8077820 (NC_000002.11:17852875:AA: 1909/16478) Row 8077821 (NC_000002.11:17852875:AAA: 969/16478)...	-	Apr 26, 2021 (155)
59	8.3KJPN Submission ignored due to conflicting rows: Row 8077819 (NC_000002.11:17852875:A: 11215/16478) Row 8077820 (NC_000002.11:17852875:AA: 1909/16478) Row 8077821 (NC_000002.11:17852875:AAA: 969/16478)...	-	Apr 26, 2021 (155)
60	8.3KJPN Submission ignored due to conflicting rows: Row 8077819 (NC_000002.11:17852875:A: 11215/16478) Row 8077820 (NC_000002.11:17852875:AA: 1909/16478) Row 8077821 (NC_000002.11:17852875:AAA: 969/16478)...	-	Apr 26, 2021 (155)
61	14KJPN Submission ignored due to conflicting rows: Row 12202973 (NC_000002.12:17671608:A: 19997/28154) Row 12202974 (NC_000002.12:17671608:AA: 3355/28154) Row 12202975 (NC_000002.12:17671608:AAA: 1664/28154)...	-	Oct 12, 2022 (156)
62	14KJPN Submission ignored due to conflicting rows: Row 12202973 (NC_000002.12:17671608:A: 19997/28154) Row 12202974 (NC_000002.12:17671608:AA: 3355/28154) Row 12202975 (NC_000002.12:17671608:AAA: 1664/28154)...	-	Oct 12, 2022 (156)
63	14KJPN Submission ignored due to conflicting rows: Row 12202973 (NC_000002.12:17671608:A: 19997/28154) Row 12202974 (NC_000002.12:17671608:AA: 3355/28154) Row 12202975 (NC_000002.12:17671608:AAA: 1664/28154)...	-	Oct 12, 2022 (156)
64	14KJPN Submission ignored due to conflicting rows: Row 12202973 (NC_000002.12:17671608:A: 19997/28154) Row 12202974 (NC_000002.12:17671608:AA: 3355/28154) Row 12202975 (NC_000002.12:17671608:AAA: 1664/28154)...	-	Oct 12, 2022 (156)
65	14KJPN Submission ignored due to conflicting rows: Row 12202973 (NC_000002.12:17671608:A: 19997/28154) Row 12202974 (NC_000002.12:17671608:AA: 3355/28154) Row 12202975 (NC_000002.12:17671608:AAA: 1664/28154)...	-	Oct 12, 2022 (156)
66	ALFA	NC_000002.12 - 17671609	Apr 26, 2021 (155)

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

Associated ID	History Updated (Build)
rs70964003	Apr 25, 2013 (138)
rs72198639	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss5150108515	NC_000002.11:17852875:AAAAAAAAAAAA… NC_000002.11:17852875:AAAAAAAAAAAAA:	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4036434222, ss5678365872	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAA:	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
14072328729	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
14072328729	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4036434221	NC_000002.12:17671608:AAAAAAAA:	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
14072328729	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss5247098979, ss5447394435	NC_000002.12:17671608:AAAAAAA:	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
14072328729	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3703356234, ss4036434220	NC_000002.12:17671608:AAAAAA:	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
14072328729	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4036434219	NC_000002.12:17671608:AAAAA:	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
14072328729	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3703356233	NC_000002.12:17671609:AAAAA:	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss2989063277	NC_000002.11:17852875:AAAA:	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4036434218	NC_000002.12:17671608:AAAA:	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
14072328729	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3703356232	NC_000002.12:17671610:AAAA:	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss666139980, ss3783793299, ss3789392387, ss3794265114, ss5150108514	NC_000002.11:17852875:AAA:	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3064777897, ss5247098975, ss5447394433, ss5678365871	NC_000002.12:17671608:AAA:	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
14072328729	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3703356231	NC_000002.12:17671611:AAA:	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4296618	NT_015926.15:1523151:AAA:	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss294974294	NC_000002.10:17716356:AA:	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3826847154, ss5150108513	NC_000002.11:17852875:AA:	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3646977063, ss5247098974, ss5447394432, ss5678365870	NC_000002.12:17671608:AA:	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
14072328729	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3703356230	NC_000002.12:17671612:AA:	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss95265617	NT_015926.15:1523174:AA:	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
651704, ss1575360817, ss5150108512	NC_000002.11:17852875:A:	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5247098976, ss5447394434, ss5678365869	NC_000002.12:17671608:A:	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
14072328729	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3703356229	NC_000002.12:17671613:A:	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4296618	NT_015926.15:1523151:AAA:AA	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4036434214, ss5247098977, ss5678365873	NC_000002.12:17671608::A	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
14072328729	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5247098978	NC_000002.12:17671608::AA	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
14072328729	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4036434215	NC_000002.12:17671608::AAA	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
14072328729	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4036434216	NC_000002.12:17671608::AAAA	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
14072328729	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4036434217	NC_000002.12:17671608::AAAAA	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
14072328729	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:17671608:AAAAAAAAAAAA… NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(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 rs373510441

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

rs373510441