Name: rs11309389
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.

rs11309389

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:17751468-17751483 (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)₇ / del(A)₄ / delAAA / delAA…
del(A)₇ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₇
Variation Type: Indel Insertion and Deletion
Frequency: delA=0.03015 (395/13101, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SMC6 : Intron Variant
GEN1 : 2KB Upstream 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	13101	AAAAAAAAAAAAAAAA=0.94832	AAAAAAAAA=0.00000, AAAAAAAAAAAA=0.00000, AAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAA=0.00511, AAAAAAAAAAAAAAA=0.03015, AAAAAAAAAAAAAAAAA=0.01382, AAAAAAAAAAAAAAAAAA=0.00260, AAAAAAAAAAAAAAAAAAA=0.00000	0.947299	0.003448	0.049253	31
European	Sub	10967	AAAAAAAAAAAAAAAA=0.93836	AAAAAAAAA=0.00000, AAAAAAAAAAAA=0.00000, AAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAA=0.00611, AAAAAAAAAAAAAAA=0.03593, AAAAAAAAAAAAAAAAA=0.01650, AAAAAAAAAAAAAAAAAA=0.00310, AAAAAAAAAAAAAAAAAAA=0.00000	0.936306	0.00418	0.059514	23
African	Sub	1138	AAAAAAAAAAAAAAAA=1.0000	AAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	56	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	1082	AAAAAAAAAAAAAAAA=1.0000	AAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	92	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	74	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	18	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	78	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	454	AAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	76	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	296	AAAAAAAAAAAAAAAA=0.997	AAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.003, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000	0.993243	0.0	0.006757	0

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	13101	(A)₁₆=0.94832	del(A)₇=0.00000, del(A)₄=0.00000, delAAA=0.00000, delAA=0.00511, delA=0.03015, dupA=0.01382, dupAA=0.00260, dupAAA=0.00000
Allele Frequency Aggregator	European	Sub	10967	(A)₁₆=0.93836	del(A)₇=0.00000, del(A)₄=0.00000, delAAA=0.00000, delAA=0.00611, delA=0.03593, dupA=0.01650, dupAA=0.00310, dupAAA=0.00000
Allele Frequency Aggregator	African	Sub	1138	(A)₁₆=1.0000	del(A)₇=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	454	(A)₁₆=1.000	del(A)₇=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Other	Sub	296	(A)₁₆=0.997	del(A)₇=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.003, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Asian	Sub	92	(A)₁₆=1.00	del(A)₇=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	Latin American 1	Sub	78	(A)₁₆=1.00	del(A)₇=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	South Asian	Sub	76	(A)₁₆=1.00	del(A)₇=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00

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

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 2	NC_000002.12:g.17751477_17751483del
GRCh38.p14 chr 2	NC_000002.12:g.17751480_17751483del
GRCh38.p14 chr 2	NC_000002.12:g.17751481_17751483del
GRCh38.p14 chr 2	NC_000002.12:g.17751482_17751483del
GRCh38.p14 chr 2	NC_000002.12:g.17751483del
GRCh38.p14 chr 2	NC_000002.12:g.17751483dup
GRCh38.p14 chr 2	NC_000002.12:g.17751482_17751483dup
GRCh38.p14 chr 2	NC_000002.12:g.17751481_17751483dup
GRCh38.p14 chr 2	NC_000002.12:g.17751477_17751483dup
GRCh37.p13 chr 2	NC_000002.11:g.17932744_17932750del
GRCh37.p13 chr 2	NC_000002.11:g.17932747_17932750del
GRCh37.p13 chr 2	NC_000002.11:g.17932748_17932750del
GRCh37.p13 chr 2	NC_000002.11:g.17932749_17932750del
GRCh37.p13 chr 2	NC_000002.11:g.17932750del
GRCh37.p13 chr 2	NC_000002.11:g.17932750dup
GRCh37.p13 chr 2	NC_000002.11:g.17932749_17932750dup
GRCh37.p13 chr 2	NC_000002.11:g.17932748_17932750dup
GRCh37.p13 chr 2	NC_000002.11:g.17932744_17932750dup
GEN1 RefSeqGene	NG_051292.1:g.2791_2797del
GEN1 RefSeqGene	NG_051292.1:g.2794_2797del
GEN1 RefSeqGene	NG_051292.1:g.2795_2797del
GEN1 RefSeqGene	NG_051292.1:g.2796_2797del
GEN1 RefSeqGene	NG_051292.1:g.2797del
GEN1 RefSeqGene	NG_051292.1:g.2797dup
GEN1 RefSeqGene	NG_051292.1:g.2796_2797dup
GEN1 RefSeqGene	NG_051292.1:g.2795_2797dup
GEN1 RefSeqGene	NG_051292.1:g.2791_2797dup

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.-6+1504_… NM_001142286.2:c.-6+1504_-6+1510del	N/A	Intron Variant
SMC6 transcript variant 2	NM_024624.6:c.-6+2152_-6+… NM_024624.6:c.-6+2152_-6+2158del	N/A	Intron Variant
SMC6 transcript variant X3	XM_011533108.4:c.-6+2152_… XM_011533108.4:c.-6+2152_-6+2158del	N/A	Intron Variant
SMC6 transcript variant X1	XM_017004913.3:c.-6+2152_… XM_017004913.3:c.-6+2152_-6+2158del	N/A	Intron Variant
SMC6 transcript variant X2	XM_017004914.2:c.-6+1504_… XM_017004914.2:c.-6+1504_-6+1510del	N/A	Intron Variant
SMC6 transcript variant X5	XM_017004916.3:c.-6+2152_… XM_017004916.3:c.-6+2152_-6+2158del	N/A	Intron Variant
SMC6 transcript variant X10	XM_047445833.1:c.-6+1504_… XM_047445833.1:c.-6+1504_-6+1510del	N/A	Intron Variant
SMC6 transcript variant X4	XM_047445834.1:c.-6+1504_… XM_047445834.1:c.-6+1504_-6+1510del	N/A	Intron Variant
SMC6 transcript variant X12	XM_047445835.1:c.-6+1504_… XM_047445835.1:c.-6+1504_-6+1510del	N/A	Intron Variant
SMC6 transcript variant X6	XM_047445837.1:c.-6+1504_… XM_047445837.1:c.-6+1504_-6+1510del	N/A	Intron Variant
SMC6 transcript variant X7	XM_047445839.1:c.-6+2152_… XM_047445839.1:c.-6+2152_-6+2158del	N/A	Intron Variant
SMC6 transcript variant X9	XM_011533107.4:c.	N/A	Genic Upstream Transcript Variant
SMC6 transcript variant X11	XM_017004915.3:c.	N/A	Genic Upstream Transcript Variant
SMC6 transcript variant X13	XM_047445836.1:c.	N/A	Genic Upstream Transcript Variant
SMC6 transcript variant X14	XM_047445838.1:c.	N/A	Genic Upstream Transcript Variant
SMC6 transcript variant X8	XM_047445840.1:c.	N/A	Genic Upstream Transcript Variant

Gene: GEN1, GEN1 Holliday junction 5' flap endonuclease (plus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
GEN1 transcript variant 2	NM_001130009.3:c.	N/A	N/A
GEN1 transcript variant 1	NM_182625.5:c.	N/A	N/A
GEN1 transcript variant X5	XM_011532822.3:c.	N/A	Upstream Transcript Variant
GEN1 transcript variant X4	XM_005262613.5:c.	N/A	N/A
GEN1 transcript variant X6	XM_006712005.4:c.	N/A	N/A
GEN1 transcript variant X3	XM_011532820.3:c.	N/A	N/A
GEN1 transcript variant X2	XM_011532821.3:c.	N/A	N/A
GEN1 transcript variant X1	XM_047444147.1:c.	N/A	N/A
GEN1 transcript variant X7	XM_047444155.1:c.	N/A	N/A
GEN1 transcript variant X8	XM_047444156.1:c.	N/A	N/A
GEN1 transcript variant X9	XM_047444157.1:c.	N/A	N/A
GEN1 transcript variant X10	XM_047444158.1:c.	N/A	N/A
GEN1 transcript variant X11	XM_047444159.1:c.	N/A	N/A

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)₁₆=	del(A)₇	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₇
GRCh38.p14 chr 2	NC_000002.12:g.17751468_17751483=	NC_000002.12:g.17751477_17751483del	NC_000002.12:g.17751480_17751483del	NC_000002.12:g.17751481_17751483del	NC_000002.12:g.17751482_17751483del	NC_000002.12:g.17751483del	NC_000002.12:g.17751483dup	NC_000002.12:g.17751482_17751483dup	NC_000002.12:g.17751481_17751483dup	NC_000002.12:g.17751477_17751483dup
GRCh37.p13 chr 2	NC_000002.11:g.17932735_17932750=	NC_000002.11:g.17932744_17932750del	NC_000002.11:g.17932747_17932750del	NC_000002.11:g.17932748_17932750del	NC_000002.11:g.17932749_17932750del	NC_000002.11:g.17932750del	NC_000002.11:g.17932750dup	NC_000002.11:g.17932749_17932750dup	NC_000002.11:g.17932748_17932750dup	NC_000002.11:g.17932744_17932750dup
GEN1 RefSeqGene	NG_051292.1:g.2782_2797=	NG_051292.1:g.2791_2797del	NG_051292.1:g.2794_2797del	NG_051292.1:g.2795_2797del	NG_051292.1:g.2796_2797del	NG_051292.1:g.2797del	NG_051292.1:g.2797dup	NG_051292.1:g.2796_2797dup	NG_051292.1:g.2795_2797dup	NG_051292.1:g.2791_2797dup
SMC6 transcript variant 1	NM_001142286.1:c.-6+1510=	NM_001142286.1:c.-6+1504_-6+1510del	NM_001142286.1:c.-6+1507_-6+1510del	NM_001142286.1:c.-6+1508_-6+1510del	NM_001142286.1:c.-6+1509_-6+1510del	NM_001142286.1:c.-6+1510del	NM_001142286.1:c.-6+1510dup	NM_001142286.1:c.-6+1509_-6+1510dup	NM_001142286.1:c.-6+1508_-6+1510dup	NM_001142286.1:c.-6+1504_-6+1510dup
SMC6 transcript variant 1	NM_001142286.2:c.-6+1510=	NM_001142286.2:c.-6+1504_-6+1510del	NM_001142286.2:c.-6+1507_-6+1510del	NM_001142286.2:c.-6+1508_-6+1510del	NM_001142286.2:c.-6+1509_-6+1510del	NM_001142286.2:c.-6+1510del	NM_001142286.2:c.-6+1510dup	NM_001142286.2:c.-6+1509_-6+1510dup	NM_001142286.2:c.-6+1508_-6+1510dup	NM_001142286.2:c.-6+1504_-6+1510dup
SMC6 transcript variant 2	NM_024624.5:c.-6+2158=	NM_024624.5:c.-6+2152_-6+2158del	NM_024624.5:c.-6+2155_-6+2158del	NM_024624.5:c.-6+2156_-6+2158del	NM_024624.5:c.-6+2157_-6+2158del	NM_024624.5:c.-6+2158del	NM_024624.5:c.-6+2158dup	NM_024624.5:c.-6+2157_-6+2158dup	NM_024624.5:c.-6+2156_-6+2158dup	NM_024624.5:c.-6+2152_-6+2158dup
SMC6 transcript variant 2	NM_024624.6:c.-6+2158=	NM_024624.6:c.-6+2152_-6+2158del	NM_024624.6:c.-6+2155_-6+2158del	NM_024624.6:c.-6+2156_-6+2158del	NM_024624.6:c.-6+2157_-6+2158del	NM_024624.6:c.-6+2158del	NM_024624.6:c.-6+2158dup	NM_024624.6:c.-6+2157_-6+2158dup	NM_024624.6:c.-6+2156_-6+2158dup	NM_024624.6:c.-6+2152_-6+2158dup
SMC6 transcript variant X1	XM_005262627.1:c.61+1534=	XM_005262627.1:c.61+1528_61+1534del	XM_005262627.1:c.61+1531_61+1534del	XM_005262627.1:c.61+1532_61+1534del	XM_005262627.1:c.61+1533_61+1534del	XM_005262627.1:c.61+1534del	XM_005262627.1:c.61+1534dup	XM_005262627.1:c.61+1533_61+1534dup	XM_005262627.1:c.61+1532_61+1534dup	XM_005262627.1:c.61+1528_61+1534dup
SMC6 transcript variant X2	XM_005262628.1:c.61+1534=	XM_005262628.1:c.61+1528_61+1534del	XM_005262628.1:c.61+1531_61+1534del	XM_005262628.1:c.61+1532_61+1534del	XM_005262628.1:c.61+1533_61+1534del	XM_005262628.1:c.61+1534del	XM_005262628.1:c.61+1534dup	XM_005262628.1:c.61+1533_61+1534dup	XM_005262628.1:c.61+1532_61+1534dup	XM_005262628.1:c.61+1528_61+1534dup
SMC6 transcript variant X3	XM_011533108.4:c.-6+2158=	XM_011533108.4:c.-6+2152_-6+2158del	XM_011533108.4:c.-6+2155_-6+2158del	XM_011533108.4:c.-6+2156_-6+2158del	XM_011533108.4:c.-6+2157_-6+2158del	XM_011533108.4:c.-6+2158del	XM_011533108.4:c.-6+2158dup	XM_011533108.4:c.-6+2157_-6+2158dup	XM_011533108.4:c.-6+2156_-6+2158dup	XM_011533108.4:c.-6+2152_-6+2158dup
SMC6 transcript variant X1	XM_017004913.3:c.-6+2158=	XM_017004913.3:c.-6+2152_-6+2158del	XM_017004913.3:c.-6+2155_-6+2158del	XM_017004913.3:c.-6+2156_-6+2158del	XM_017004913.3:c.-6+2157_-6+2158del	XM_017004913.3:c.-6+2158del	XM_017004913.3:c.-6+2158dup	XM_017004913.3:c.-6+2157_-6+2158dup	XM_017004913.3:c.-6+2156_-6+2158dup	XM_017004913.3:c.-6+2152_-6+2158dup
SMC6 transcript variant X2	XM_017004914.2:c.-6+1510=	XM_017004914.2:c.-6+1504_-6+1510del	XM_017004914.2:c.-6+1507_-6+1510del	XM_017004914.2:c.-6+1508_-6+1510del	XM_017004914.2:c.-6+1509_-6+1510del	XM_017004914.2:c.-6+1510del	XM_017004914.2:c.-6+1510dup	XM_017004914.2:c.-6+1509_-6+1510dup	XM_017004914.2:c.-6+1508_-6+1510dup	XM_017004914.2:c.-6+1504_-6+1510dup
SMC6 transcript variant X5	XM_017004916.3:c.-6+2158=	XM_017004916.3:c.-6+2152_-6+2158del	XM_017004916.3:c.-6+2155_-6+2158del	XM_017004916.3:c.-6+2156_-6+2158del	XM_017004916.3:c.-6+2157_-6+2158del	XM_017004916.3:c.-6+2158del	XM_017004916.3:c.-6+2158dup	XM_017004916.3:c.-6+2157_-6+2158dup	XM_017004916.3:c.-6+2156_-6+2158dup	XM_017004916.3:c.-6+2152_-6+2158dup
SMC6 transcript variant X10	XM_047445833.1:c.-6+1510=	XM_047445833.1:c.-6+1504_-6+1510del	XM_047445833.1:c.-6+1507_-6+1510del	XM_047445833.1:c.-6+1508_-6+1510del	XM_047445833.1:c.-6+1509_-6+1510del	XM_047445833.1:c.-6+1510del	XM_047445833.1:c.-6+1510dup	XM_047445833.1:c.-6+1509_-6+1510dup	XM_047445833.1:c.-6+1508_-6+1510dup	XM_047445833.1:c.-6+1504_-6+1510dup
SMC6 transcript variant X4	XM_047445834.1:c.-6+1510=	XM_047445834.1:c.-6+1504_-6+1510del	XM_047445834.1:c.-6+1507_-6+1510del	XM_047445834.1:c.-6+1508_-6+1510del	XM_047445834.1:c.-6+1509_-6+1510del	XM_047445834.1:c.-6+1510del	XM_047445834.1:c.-6+1510dup	XM_047445834.1:c.-6+1509_-6+1510dup	XM_047445834.1:c.-6+1508_-6+1510dup	XM_047445834.1:c.-6+1504_-6+1510dup
SMC6 transcript variant X12	XM_047445835.1:c.-6+1510=	XM_047445835.1:c.-6+1504_-6+1510del	XM_047445835.1:c.-6+1507_-6+1510del	XM_047445835.1:c.-6+1508_-6+1510del	XM_047445835.1:c.-6+1509_-6+1510del	XM_047445835.1:c.-6+1510del	XM_047445835.1:c.-6+1510dup	XM_047445835.1:c.-6+1509_-6+1510dup	XM_047445835.1:c.-6+1508_-6+1510dup	XM_047445835.1:c.-6+1504_-6+1510dup
SMC6 transcript variant X6	XM_047445837.1:c.-6+1510=	XM_047445837.1:c.-6+1504_-6+1510del	XM_047445837.1:c.-6+1507_-6+1510del	XM_047445837.1:c.-6+1508_-6+1510del	XM_047445837.1:c.-6+1509_-6+1510del	XM_047445837.1:c.-6+1510del	XM_047445837.1:c.-6+1510dup	XM_047445837.1:c.-6+1509_-6+1510dup	XM_047445837.1:c.-6+1508_-6+1510dup	XM_047445837.1:c.-6+1504_-6+1510dup
SMC6 transcript variant X7	XM_047445839.1:c.-6+2158=	XM_047445839.1:c.-6+2152_-6+2158del	XM_047445839.1:c.-6+2155_-6+2158del	XM_047445839.1:c.-6+2156_-6+2158del	XM_047445839.1:c.-6+2157_-6+2158del	XM_047445839.1:c.-6+2158del	XM_047445839.1:c.-6+2158dup	XM_047445839.1:c.-6+2157_-6+2158dup	XM_047445839.1:c.-6+2156_-6+2158dup	XM_047445839.1:c.-6+2152_-6+2158dup

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#.

35 SubSNP, 17 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCMHGSC_JDW	ss103621864	Dec 01, 2009 (131)
2	GMI	ss288137002	May 04, 2012 (137)
3	SWEGEN	ss2989064090	Jan 10, 2018 (151)
4	EVA_DECODE	ss3703357247	Jul 12, 2019 (153)
5	EVA_DECODE	ss3703357248	Jul 12, 2019 (153)
6	EVA_DECODE	ss3703357249	Jul 12, 2019 (153)
7	EVA_DECODE	ss3703357250	Jul 12, 2019 (153)
8	EVA_DECODE	ss3703357251	Jul 12, 2019 (153)
9	EVA_DECODE	ss3703357252	Jul 12, 2019 (153)
10	ACPOP	ss3728199824	Jul 12, 2019 (153)
11	ACPOP	ss3728199825	Jul 12, 2019 (153)
12	EVA	ss3826847353	Apr 25, 2020 (154)
13	GNOMAD	ss4036443570	Apr 26, 2021 (155)
14	GNOMAD	ss4036443571	Apr 26, 2021 (155)
15	GNOMAD	ss4036443572	Apr 26, 2021 (155)
16	GNOMAD	ss4036443573	Apr 26, 2021 (155)
17	GNOMAD	ss4036443574	Apr 26, 2021 (155)
18	GNOMAD	ss4036443575	Apr 26, 2021 (155)
19	GNOMAD	ss4036443576	Apr 26, 2021 (155)
20	GNOMAD	ss4036443577	Apr 26, 2021 (155)
21	TOMMO_GENOMICS	ss5150110811	Apr 26, 2021 (155)
22	TOMMO_GENOMICS	ss5150110812	Apr 26, 2021 (155)
23	TOMMO_GENOMICS	ss5150110813	Apr 26, 2021 (155)
24	1000G_HIGH_COVERAGE	ss5247100774	Oct 13, 2022 (156)
25	1000G_HIGH_COVERAGE	ss5247100775	Oct 13, 2022 (156)
26	1000G_HIGH_COVERAGE	ss5247100776	Oct 13, 2022 (156)
27	1000G_HIGH_COVERAGE	ss5247100777	Oct 13, 2022 (156)
28	HUGCELL_USP	ss5447396007	Oct 13, 2022 (156)
29	HUGCELL_USP	ss5447396008	Oct 13, 2022 (156)
30	HUGCELL_USP	ss5447396009	Oct 13, 2022 (156)
31	HUGCELL_USP	ss5447396010	Oct 13, 2022 (156)
32	TOMMO_GENOMICS	ss5678368811	Oct 13, 2022 (156)
33	TOMMO_GENOMICS	ss5678368813	Oct 13, 2022 (156)
34	TOMMO_GENOMICS	ss5678368814	Oct 13, 2022 (156)
35	EVA	ss5852411699	Oct 13, 2022 (156)
36	gnomAD - Genomes Submission ignored due to conflicting rows: Row 49982086 (NC_000002.12:17751467::A 6803/81830) Row 49982087 (NC_000002.12:17751467::AA 303/81872) Row 49982088 (NC_000002.12:17751467::AAA 1/81888)...	-	Apr 26, 2021 (155)
37	gnomAD - Genomes Submission ignored due to conflicting rows: Row 49982086 (NC_000002.12:17751467::A 6803/81830) Row 49982087 (NC_000002.12:17751467::AA 303/81872) Row 49982088 (NC_000002.12:17751467::AAA 1/81888)...	-	Apr 26, 2021 (155)
38	gnomAD - Genomes Submission ignored due to conflicting rows: Row 49982086 (NC_000002.12:17751467::A 6803/81830) Row 49982087 (NC_000002.12:17751467::AA 303/81872) Row 49982088 (NC_000002.12:17751467::AAA 1/81888)...	-	Apr 26, 2021 (155)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 49982086 (NC_000002.12:17751467::A 6803/81830) Row 49982087 (NC_000002.12:17751467::AA 303/81872) Row 49982088 (NC_000002.12:17751467::AAA 1/81888)...	-	Apr 26, 2021 (155)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 49982086 (NC_000002.12:17751467::A 6803/81830) Row 49982087 (NC_000002.12:17751467::AA 303/81872) Row 49982088 (NC_000002.12:17751467::AAA 1/81888)...	-	Apr 26, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 49982086 (NC_000002.12:17751467::A 6803/81830) Row 49982087 (NC_000002.12:17751467::AA 303/81872) Row 49982088 (NC_000002.12:17751467::AAA 1/81888)...	-	Apr 26, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 49982086 (NC_000002.12:17751467::A 6803/81830) Row 49982087 (NC_000002.12:17751467::AA 303/81872) Row 49982088 (NC_000002.12:17751467::AAA 1/81888)...	-	Apr 26, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 49982086 (NC_000002.12:17751467::A 6803/81830) Row 49982087 (NC_000002.12:17751467::AA 303/81872) Row 49982088 (NC_000002.12:17751467::AAA 1/81888)...	-	Apr 26, 2021 (155)
44	Northern Sweden Submission ignored due to conflicting rows: Row 1484689 (NC_000002.11:17932734:A: 56/584) Row 1484690 (NC_000002.11:17932734::A 37/584)	-	Jul 12, 2019 (153)
45	Northern Sweden Submission ignored due to conflicting rows: Row 1484689 (NC_000002.11:17932734:A: 56/584) Row 1484690 (NC_000002.11:17932734::A 37/584)	-	Jul 12, 2019 (153)
46	8.3KJPN Submission ignored due to conflicting rows: Row 8080118 (NC_000002.11:17932734:A: 1747/16746) Row 8080119 (NC_000002.11:17932734::A 102/16746) Row 8080120 (NC_000002.11:17932734:AA: 2/16746)	-	Apr 26, 2021 (155)
47	8.3KJPN Submission ignored due to conflicting rows: Row 8080118 (NC_000002.11:17932734:A: 1747/16746) Row 8080119 (NC_000002.11:17932734::A 102/16746) Row 8080120 (NC_000002.11:17932734:AA: 2/16746)	-	Apr 26, 2021 (155)
48	8.3KJPN Submission ignored due to conflicting rows: Row 8080118 (NC_000002.11:17932734:A: 1747/16746) Row 8080119 (NC_000002.11:17932734::A 102/16746) Row 8080120 (NC_000002.11:17932734:AA: 2/16746)	-	Apr 26, 2021 (155)
49	14KJPN Submission ignored due to conflicting rows: Row 12205915 (NC_000002.12:17751467:A: 2619/28040) Row 12205917 (NC_000002.12:17751467::A 135/28040) Row 12205918 (NC_000002.12:17751467:AA: 3/28040)	-	Oct 13, 2022 (156)
50	14KJPN Submission ignored due to conflicting rows: Row 12205915 (NC_000002.12:17751467:A: 2619/28040) Row 12205917 (NC_000002.12:17751467::A 135/28040) Row 12205918 (NC_000002.12:17751467:AA: 3/28040)	-	Oct 13, 2022 (156)
51	14KJPN Submission ignored due to conflicting rows: Row 12205915 (NC_000002.12:17751467:A: 2619/28040) Row 12205917 (NC_000002.12:17751467::A 135/28040) Row 12205918 (NC_000002.12:17751467:AA: 3/28040)	-	Oct 13, 2022 (156)
52	ALFA	NC_000002.12 - 17751468	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)
rs71998644	May 11, 2012 (137)
rs72124719	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4036443577	NC_000002.12:17751467:AAAAAAA:	NC_000002.12:17751467:AAAAAAAAAAAA… NC_000002.12:17751467:AAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
10395864559	NC_000002.12:17751467:AAAAAAAAAAAA… NC_000002.12:17751467:AAAAAAAAAAAAAAAA:AAAAAAAAA	NC_000002.12:17751467:AAAAAAAAAAAA… NC_000002.12:17751467:AAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
ss4036443576	NC_000002.12:17751467:AAAA:	NC_000002.12:17751467:AAAAAAAAAAAA… NC_000002.12:17751467:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
10395864559	NC_000002.12:17751467:AAAAAAAAAAAA… NC_000002.12:17751467:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000002.12:17751467:AAAAAAAAAAAA… NC_000002.12:17751467:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss3703357252, ss4036443575	NC_000002.12:17751467:AAA:	NC_000002.12:17751467:AAAAAAAAAAAA… NC_000002.12:17751467:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
10395864559	NC_000002.12:17751467:AAAAAAAAAAAA… NC_000002.12:17751467:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000002.12:17751467:AAAAAAAAAAAA… NC_000002.12:17751467:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss103621864	NT_015926.15:1603023:AAA:	NC_000002.12:17751467:AAAAAAAAAAAA… NC_000002.12:17751467:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss2989064090, ss5150110813	NC_000002.11:17932734:AA:	NC_000002.12:17751467:AAAAAAAAAAAA… NC_000002.12:17751467:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4036443574, ss5247100775, ss5447396010, ss5678368814	NC_000002.12:17751467:AA:	NC_000002.12:17751467:AAAAAAAAAAAA… NC_000002.12:17751467:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
10395864559	NC_000002.12:17751467:AAAAAAAAAAAA… NC_000002.12:17751467:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000002.12:17751467:AAAAAAAAAAAA… NC_000002.12:17751467:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3703357251	NC_000002.12:17751468:AA:	NC_000002.12:17751467:AAAAAAAAAAAA… NC_000002.12:17751467:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss288137002	NC_000002.10:17796215:A:	NC_000002.12:17751467:AAAAAAAAAAAA… NC_000002.12:17751467:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3728199824, ss3826847353, ss5150110811	NC_000002.11:17932734:A:	NC_000002.12:17751467:AAAAAAAAAAAA… NC_000002.12:17751467:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4036443573, ss5247100774, ss5447396007, ss5678368811, ss5852411699	NC_000002.12:17751467:A:	NC_000002.12:17751467:AAAAAAAAAAAA… NC_000002.12:17751467:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
10395864559	NC_000002.12:17751467:AAAAAAAAAAAA… NC_000002.12:17751467:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000002.12:17751467:AAAAAAAAAAAA… NC_000002.12:17751467:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3703357250	NC_000002.12:17751469:A:	NC_000002.12:17751467:AAAAAAAAAAAA… NC_000002.12:17751467:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3728199825, ss5150110812	NC_000002.11:17932734::A	NC_000002.12:17751467:AAAAAAAAAAAA… NC_000002.12:17751467:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4036443570, ss5247100776, ss5447396008, ss5678368813	NC_000002.12:17751467::A	NC_000002.12:17751467:AAAAAAAAAAAA… NC_000002.12:17751467:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
10395864559	NC_000002.12:17751467:AAAAAAAAAAAA… NC_000002.12:17751467:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000002.12:17751467:AAAAAAAAAAAA… NC_000002.12:17751467:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3703357249	NC_000002.12:17751470::A	NC_000002.12:17751467:AAAAAAAAAAAA… NC_000002.12:17751467:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4036443571, ss5247100777, ss5447396009	NC_000002.12:17751467::AA	NC_000002.12:17751467:AAAAAAAAAAAA… NC_000002.12:17751467:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
10395864559	NC_000002.12:17751467:AAAAAAAAAAAA… NC_000002.12:17751467:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000002.12:17751467:AAAAAAAAAAAA… NC_000002.12:17751467:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3703357248	NC_000002.12:17751470::AA	NC_000002.12:17751467:AAAAAAAAAAAA… NC_000002.12:17751467:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4036443572	NC_000002.12:17751467::AAA	NC_000002.12:17751467:AAAAAAAAAAAA… NC_000002.12:17751467:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
10395864559	NC_000002.12:17751467:AAAAAAAAAAAA… NC_000002.12:17751467:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000002.12:17751467:AAAAAAAAAAAA… NC_000002.12:17751467:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3703357247	NC_000002.12:17751470::AAAAAAA	NC_000002.12:17751467:AAAAAAAAAAAA… NC_000002.12:17751467:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(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 rs11309389

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
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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

rs11309389