Name: rs11304210
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.

rs11304210

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:17811537-17811547 (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: delGG / delG / dupG / dupGG / dupG…
delGG / delG / dupG / dupGG / dupGGG / dup(G)₄
Variation Type: Indel Insertion and Deletion
Frequency: delG=0.2080 (1673/8044, ALFA)
(G)₁₁=0.3339 (1672/5008, 1000G)
delGG=0.0132 (51/3854, ALSPAC) (+ 1 more)
(G)₁₁=0.42 (16/38, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SREBF1 : Non Coding Transcript Variant
RAI1 : 500B Downstream 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	8044	GGGGGGGGGGG=0.7841	GGGGGGGGG=0.0034, GGGGGGGGGG=0.2080, GGGGGGGGGGGG=0.0046, GGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGGG=0.0000	0.674271	0.089987	0.235741	32
European	Sub	7142	GGGGGGGGGGG=0.7575	GGGGGGGGG=0.0038, GGGGGGGGGG=0.2335, GGGGGGGGGGGG=0.0052, GGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGGG=0.0000	0.633371	0.101317	0.265312	32
African	Sub	602	GGGGGGGGGGG=1.000	GGGGGGGGG=0.000, GGGGGGGGGG=0.000, GGGGGGGGGGGG=0.000, GGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGG=0.000	1.0	0.0	0.0	N/A
African Others	Sub	14	GGGGGGGGGGG=1.00	GGGGGGGGG=0.00, GGGGGGGGGG=0.00, GGGGGGGGGGGG=0.00, GGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGG=0.00	1.0	0.0	0.0	N/A
African American	Sub	588	GGGGGGGGGGG=1.000	GGGGGGGGG=0.000, GGGGGGGGGG=0.000, GGGGGGGGGGGG=0.000, GGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGG=0.000	1.0	0.0	0.0	N/A
Asian	Sub	0	GGGGGGGGGGG=0	GGGGGGGGG=0, GGGGGGGGGG=0, GGGGGGGGGGGG=0, GGGGGGGGGGGGG=0, GGGGGGGGGGGGGG=0, GGGGGGGGGGGGGGG=0	0	0	0	N/A
East Asian	Sub	0	GGGGGGGGGGG=0	GGGGGGGGG=0, GGGGGGGGGG=0, GGGGGGGGGGGG=0, GGGGGGGGGGGGG=0, GGGGGGGGGGGGGG=0, GGGGGGGGGGGGGGG=0	0	0	0	N/A
Other Asian	Sub	0	GGGGGGGGGGG=0	GGGGGGGGG=0, GGGGGGGGGG=0, GGGGGGGGGGGG=0, GGGGGGGGGGGGG=0, GGGGGGGGGGGGGG=0, GGGGGGGGGGGGGGG=0	0	0	0	N/A
Latin American 1	Sub	38	GGGGGGGGGGG=1.00	GGGGGGGGG=0.00, GGGGGGGGGG=0.00, GGGGGGGGGGGG=0.00, GGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGG=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	116	GGGGGGGGGGG=1.000	GGGGGGGGG=0.000, GGGGGGGGGG=0.000, GGGGGGGGGGGG=0.000, GGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGG=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	6	GGGGGGGGGGG=1.0	GGGGGGGGG=0.0, GGGGGGGGGG=0.0, GGGGGGGGGGGG=0.0, GGGGGGGGGGGGG=0.0, GGGGGGGGGGGGGG=0.0, GGGGGGGGGGGGGGG=0.0	1.0	0.0	0.0	N/A
Other	Sub	140	GGGGGGGGGGG=0.964	GGGGGGGGG=0.000, GGGGGGGGGG=0.036, GGGGGGGGGGGG=0.000, GGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGG=0.000	0.942857	0.014286	0.042857	6

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	8044	(G)₁₁=0.7841	delGG=0.0034, delG=0.2080, dupG=0.0046, dupGG=0.0000, dupGGG=0.0000, dup(G)₄=0.0000
Allele Frequency Aggregator	European	Sub	7142	(G)₁₁=0.7575	delGG=0.0038, delG=0.2335, dupG=0.0052, dupGG=0.0000, dupGGG=0.0000, dup(G)₄=0.0000
Allele Frequency Aggregator	African	Sub	602	(G)₁₁=1.000	delGG=0.000, delG=0.000, dupG=0.000, dupGG=0.000, dupGGG=0.000, dup(G)₄=0.000
Allele Frequency Aggregator	Other	Sub	140	(G)₁₁=0.964	delGG=0.000, delG=0.036, dupG=0.000, dupGG=0.000, dupGGG=0.000, dup(G)₄=0.000
Allele Frequency Aggregator	Latin American 2	Sub	116	(G)₁₁=1.000	delGG=0.000, delG=0.000, dupG=0.000, dupGG=0.000, dupGGG=0.000, dup(G)₄=0.000
Allele Frequency Aggregator	Latin American 1	Sub	38	(G)₁₁=1.00	delGG=0.00, delG=0.00, dupG=0.00, dupGG=0.00, dupGGG=0.00, dup(G)₄=0.00
Allele Frequency Aggregator	South Asian	Sub	6	(G)₁₁=1.0	delGG=0.0, delG=0.0, dupG=0.0, dupGG=0.0, dupGGG=0.0, dup(G)₄=0.0
Allele Frequency Aggregator	Asian	Sub	0	(G)₁₁=0	delGG=0, delG=0, dupG=0, dupGG=0, dupGGG=0, dup(G)₄=0
1000Genomes	Global	Study-wide	5008	(G)₁₁=0.3339	delG=0.6661
1000Genomes	African	Sub	1322	(G)₁₁=0.3911	delG=0.6089
1000Genomes	East Asian	Sub	1008	(G)₁₁=0.0744	delG=0.9256
1000Genomes	Europe	Sub	1006	(G)₁₁=0.5755	delG=0.4245
1000Genomes	South Asian	Sub	978	(G)₁₁=0.211	delG=0.789
1000Genomes	American	Sub	694	(G)₁₁=0.425	delG=0.575
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	(G)₁₁=0.9868	delGG=0.0132
The Danish reference pan genome	Danish	Study-wide	38	(G)₁₁=0.42	delG=0.58

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 17	NC_000017.11:g.17811546_17811547del
GRCh38.p14 chr 17	NC_000017.11:g.17811547del
GRCh38.p14 chr 17	NC_000017.11:g.17811547dup
GRCh38.p14 chr 17	NC_000017.11:g.17811546_17811547dup
GRCh38.p14 chr 17	NC_000017.11:g.17811545_17811547dup
GRCh38.p14 chr 17	NC_000017.11:g.17811544_17811547dup
GRCh37.p13 chr 17	NC_000017.10:g.17714860_17714861del
GRCh37.p13 chr 17	NC_000017.10:g.17714861del
GRCh37.p13 chr 17	NC_000017.10:g.17714861dup
GRCh37.p13 chr 17	NC_000017.10:g.17714860_17714861dup
GRCh37.p13 chr 17	NC_000017.10:g.17714859_17714861dup
GRCh37.p13 chr 17	NC_000017.10:g.17714858_17714861dup
RAI1 RefSeqGene	NG_007101.2:g.135074_135075del
RAI1 RefSeqGene	NG_007101.2:g.135075del
RAI1 RefSeqGene	NG_007101.2:g.135075dup
RAI1 RefSeqGene	NG_007101.2:g.135074_135075dup
RAI1 RefSeqGene	NG_007101.2:g.135073_135075dup
RAI1 RefSeqGene	NG_007101.2:g.135072_135075dup
SREBF1 RefSeqGene	NG_029029.1:g.30474_30475del
SREBF1 RefSeqGene	NG_029029.1:g.30475del
SREBF1 RefSeqGene	NG_029029.1:g.30475dup
SREBF1 RefSeqGene	NG_029029.1:g.30474_30475dup
SREBF1 RefSeqGene	NG_029029.1:g.30473_30475dup
SREBF1 RefSeqGene	NG_029029.1:g.30472_30475dup

Gene: SREBF1, sterol regulatory element binding transcription factor 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SREBF1 transcript variant 3	NM_001321096.3:c.1075_1… NM_001321096.3:c.1075_1085=	N/A	3 Prime UTR Variant
SREBF1 transcript variant 1	NM_001005291.3:c.1075_1… NM_001005291.3:c.1075_1085=	N/A	3 Prime UTR Variant
SREBF1 transcript variant 2	NM_004176.5:c.1075_1085=	N/A	3 Prime UTR Variant
SREBF1 transcript variant 11	NM_001388392.1:c.1075_1… NM_001388392.1:c.1075_1085=	N/A	3 Prime UTR Variant
SREBF1 transcript variant 12	NM_001388393.1:c.1075_1… NM_001388393.1:c.1075_1085=	N/A	3 Prime UTR Variant
SREBF1 transcript variant 7	NM_001388388.1:c.900_91… NM_001388388.1:c.900_910=	N/A	3 Prime UTR Variant
SREBF1 transcript variant 5	NM_001388386.1:c.900_91… NM_001388386.1:c.900_910=	N/A	3 Prime UTR Variant
SREBF1 transcript variant 10	NM_001388391.1:c.1075_1… NM_001388391.1:c.1075_1085=	N/A	3 Prime UTR Variant
SREBF1 transcript variant 6	NM_001388387.1:c.1075_1… NM_001388387.1:c.1075_1085=	N/A	3 Prime UTR Variant
SREBF1 transcript variant 13	NM_001388394.1:c.1075_1… NM_001388394.1:c.1075_1085=	N/A	3 Prime UTR Variant
SREBF1 transcript variant 9	NM_001388390.1:c.1075_1… NM_001388390.1:c.1075_1085=	N/A	3 Prime UTR Variant
SREBF1 transcript variant 4	NM_001388385.1:c.1075_1… NM_001388385.1:c.1075_1085=	N/A	3 Prime UTR Variant
SREBF1 transcript variant 8	NM_001388389.1:c.1075_1… NM_001388389.1:c.1075_1085=	N/A	3 Prime UTR Variant
SREBF1 transcript variant 16	NR_170945.1:n.3804_3805del	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 16	NR_170945.1:n.3805del	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 16	NR_170945.1:n.3805dup	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 16	NR_170945.1:n.3804_3805dup	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 16	NR_170945.1:n.3803_3805dup	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 16	NR_170945.1:n.3802_3805dup	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 14	NR_170943.1:n.4509_4510del	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 14	NR_170943.1:n.4510del	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 14	NR_170943.1:n.4510dup	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 14	NR_170943.1:n.4509_4510dup	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 14	NR_170943.1:n.4508_4510dup	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 14	NR_170943.1:n.4507_4510dup	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 15	NR_170944.1:n.3714_3715del	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 15	NR_170944.1:n.3715del	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 15	NR_170944.1:n.3715dup	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 15	NR_170944.1:n.3714_3715dup	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 15	NR_170944.1:n.3713_3715dup	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 15	NR_170944.1:n.3712_3715dup	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 17	NR_170990.1:n.3660_3661del	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 17	NR_170990.1:n.3661del	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 17	NR_170990.1:n.3661dup	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 17	NR_170990.1:n.3660_3661dup	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 17	NR_170990.1:n.3659_3661dup	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 17	NR_170990.1:n.3658_3661dup	N/A	Non Coding Transcript Variant
SREBF1 transcript variant X1	XM_047436580.1:c.1075_1… XM_047436580.1:c.1075_1085=	N/A	3 Prime UTR Variant
SREBF1 transcript variant X2	XM_047436581.1:c.	N/A	Genic Downstream Transcript Variant

Gene: RAI1, retinoic acid induced 1 (plus strand) : 500B Downstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
RAI1 transcript	NM_030665.4:c.	N/A	Downstream Transcript Variant
RAI1 transcript variant X6	XM_017024027.2:c.	N/A	Downstream Transcript Variant
RAI1 transcript variant X1	XM_017024028.3:c.	N/A	Downstream Transcript Variant
RAI1 transcript variant X5	XM_047435149.1:c.	N/A	Downstream Transcript Variant
RAI1 transcript variant X7	XM_047435150.1:c.	N/A	Downstream Transcript Variant
RAI1 transcript variant X2	XM_047435151.1:c.	N/A	Downstream Transcript Variant
RAI1 transcript variant X3	XM_047435152.1:c.	N/A	Downstream Transcript Variant
RAI1 transcript variant X4	XM_047435153.1:c.	N/A	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	(G)₁₁=	delGG	delG	dupG	dupGG	dupGGG	dup(G)₄
GRCh38.p14 chr 17	NC_000017.11:g.17811537_17811547=	NC_000017.11:g.17811546_17811547del	NC_000017.11:g.17811547del	NC_000017.11:g.17811547dup	NC_000017.11:g.17811546_17811547dup	NC_000017.11:g.17811545_17811547dup	NC_000017.11:g.17811544_17811547dup
GRCh37.p13 chr 17	NC_000017.10:g.17714851_17714861=	NC_000017.10:g.17714860_17714861del	NC_000017.10:g.17714861del	NC_000017.10:g.17714861dup	NC_000017.10:g.17714860_17714861dup	NC_000017.10:g.17714859_17714861dup	NC_000017.10:g.17714858_17714861dup
RAI1 RefSeqGene	NG_007101.2:g.135065_135075=	NG_007101.2:g.135074_135075del	NG_007101.2:g.135075del	NG_007101.2:g.135075dup	NG_007101.2:g.135074_135075dup	NG_007101.2:g.135073_135075dup	NG_007101.2:g.135072_135075dup
SREBF1 RefSeqGene	NG_029029.1:g.30465_30475=	NG_029029.1:g.30474_30475del	NG_029029.1:g.30475del	NG_029029.1:g.30475dup	NG_029029.1:g.30474_30475dup	NG_029029.1:g.30473_30475dup	NG_029029.1:g.30472_30475dup
SREBF1 transcript variant 2	NM_004176.5:c.1075_1085=	NM_004176.5:c.1084_1085del	NM_004176.5:c.*1085del	NM_004176.5:c.*1085dup	NM_004176.5:c.1084_1085dup	NM_004176.5:c.1083_1085dup	NM_004176.5:c.1082_1085dup
SREBF1 transcript variant 2	NM_004176.4:c.1075_1085=	NM_004176.4:c.1084_1085del	NM_004176.4:c.*1085del	NM_004176.4:c.*1085dup	NM_004176.4:c.1084_1085dup	NM_004176.4:c.1083_1085dup	NM_004176.4:c.1082_1085dup
SREBF1 transcript variant 1	NM_001005291.3:c.1075_1085=	NM_001005291.3:c.1084_1085del	NM_001005291.3:c.*1085del	NM_001005291.3:c.*1085dup	NM_001005291.3:c.1084_1085dup	NM_001005291.3:c.1083_1085dup	NM_001005291.3:c.1082_1085dup
SREBF1 transcript variant 1	NM_001005291.2:c.1075_1085=	NM_001005291.2:c.1084_1085del	NM_001005291.2:c.*1085del	NM_001005291.2:c.*1085dup	NM_001005291.2:c.1084_1085dup	NM_001005291.2:c.1083_1085dup	NM_001005291.2:c.1082_1085dup
SREBF1 transcript variant 3	NM_001321096.3:c.1075_1085=	NM_001321096.3:c.1084_1085del	NM_001321096.3:c.*1085del	NM_001321096.3:c.*1085dup	NM_001321096.3:c.1084_1085dup	NM_001321096.3:c.1083_1085dup	NM_001321096.3:c.1082_1085dup
SREBF1 transcript variant 3	NM_001321096.1:c.1075_1085=	NM_001321096.1:c.1084_1085del	NM_001321096.1:c.*1085del	NM_001321096.1:c.*1085dup	NM_001321096.1:c.1084_1085dup	NM_001321096.1:c.1083_1085dup	NM_001321096.1:c.1082_1085dup
SREBF1 transcript variant 4	NM_001388385.1:c.1075_1085=	NM_001388385.1:c.1084_1085del	NM_001388385.1:c.*1085del	NM_001388385.1:c.*1085dup	NM_001388385.1:c.1084_1085dup	NM_001388385.1:c.1083_1085dup	NM_001388385.1:c.1082_1085dup
SREBF1 transcript variant 6	NM_001388387.1:c.1075_1085=	NM_001388387.1:c.1084_1085del	NM_001388387.1:c.*1085del	NM_001388387.1:c.*1085dup	NM_001388387.1:c.1084_1085dup	NM_001388387.1:c.1083_1085dup	NM_001388387.1:c.1082_1085dup
SREBF1 transcript variant 8	NM_001388389.1:c.1075_1085=	NM_001388389.1:c.1084_1085del	NM_001388389.1:c.*1085del	NM_001388389.1:c.*1085dup	NM_001388389.1:c.1084_1085dup	NM_001388389.1:c.1083_1085dup	NM_001388389.1:c.1082_1085dup
SREBF1 transcript variant 9	NM_001388390.1:c.1075_1085=	NM_001388390.1:c.1084_1085del	NM_001388390.1:c.*1085del	NM_001388390.1:c.*1085dup	NM_001388390.1:c.1084_1085dup	NM_001388390.1:c.1083_1085dup	NM_001388390.1:c.1082_1085dup
SREBF1 transcript variant 10	NM_001388391.1:c.1075_1085=	NM_001388391.1:c.1084_1085del	NM_001388391.1:c.*1085del	NM_001388391.1:c.*1085dup	NM_001388391.1:c.1084_1085dup	NM_001388391.1:c.1083_1085dup	NM_001388391.1:c.1082_1085dup
SREBF1 transcript variant 5	NM_001388386.1:c.900_910=	NM_001388386.1:c.909_910del	NM_001388386.1:c.*910del	NM_001388386.1:c.*910dup	NM_001388386.1:c.909_910dup	NM_001388386.1:c.908_910dup	NM_001388386.1:c.907_910dup
SREBF1 transcript variant 7	NM_001388388.1:c.900_910=	NM_001388388.1:c.909_910del	NM_001388388.1:c.*910del	NM_001388388.1:c.*910dup	NM_001388388.1:c.909_910dup	NM_001388388.1:c.908_910dup	NM_001388388.1:c.907_910dup
SREBF1 transcript variant 14	NR_170943.1:n.4500_4510=	NR_170943.1:n.4509_4510del	NR_170943.1:n.4510del	NR_170943.1:n.4510dup	NR_170943.1:n.4509_4510dup	NR_170943.1:n.4508_4510dup	NR_170943.1:n.4507_4510dup
SREBF1 transcript variant 11	NM_001388392.1:c.1075_1085=	NM_001388392.1:c.1084_1085del	NM_001388392.1:c.*1085del	NM_001388392.1:c.*1085dup	NM_001388392.1:c.1084_1085dup	NM_001388392.1:c.1083_1085dup	NM_001388392.1:c.1082_1085dup
SREBF1 transcript variant 12	NM_001388393.1:c.1075_1085=	NM_001388393.1:c.1084_1085del	NM_001388393.1:c.*1085del	NM_001388393.1:c.*1085dup	NM_001388393.1:c.1084_1085dup	NM_001388393.1:c.1083_1085dup	NM_001388393.1:c.1082_1085dup
SREBF1 transcript variant 13	NM_001388394.1:c.1075_1085=	NM_001388394.1:c.1084_1085del	NM_001388394.1:c.*1085del	NM_001388394.1:c.*1085dup	NM_001388394.1:c.1084_1085dup	NM_001388394.1:c.1083_1085dup	NM_001388394.1:c.1082_1085dup
SREBF1 transcript variant 16	NR_170945.1:n.3795_3805=	NR_170945.1:n.3804_3805del	NR_170945.1:n.3805del	NR_170945.1:n.3805dup	NR_170945.1:n.3804_3805dup	NR_170945.1:n.3803_3805dup	NR_170945.1:n.3802_3805dup
SREBF1 transcript variant 15	NR_170944.1:n.3705_3715=	NR_170944.1:n.3714_3715del	NR_170944.1:n.3715del	NR_170944.1:n.3715dup	NR_170944.1:n.3714_3715dup	NR_170944.1:n.3713_3715dup	NR_170944.1:n.3712_3715dup
SREBF1 transcript variant 17	NR_170990.1:n.3651_3661=	NR_170990.1:n.3660_3661del	NR_170990.1:n.3661del	NR_170990.1:n.3661dup	NR_170990.1:n.3660_3661dup	NR_170990.1:n.3659_3661dup	NR_170990.1:n.3658_3661dup
SREBF1 transcript variant X1	XM_047436580.1:c.1075_1085=	XM_047436580.1:c.1084_1085del	XM_047436580.1:c.*1085del	XM_047436580.1:c.*1085dup	XM_047436580.1:c.1084_1085dup	XM_047436580.1:c.1083_1085dup	XM_047436580.1:c.1082_1085dup

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#.

52 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss40817832	Mar 14, 2006 (137)
2	PJP	ss294907242	May 09, 2011 (137)
3	1000GENOMES	ss1376464809	Aug 21, 2014 (142)
4	EVA_GENOME_DK	ss1575030987	Apr 01, 2015 (144)
5	EVA_UK10K_ALSPAC	ss1708708439	Apr 01, 2015 (144)
6	EVA_UK10K_TWINSUK	ss1708708453	Apr 01, 2015 (144)
7	EVA_UK10K_ALSPAC	ss1710724351	Apr 01, 2015 (144)
8	EVA_UK10K_TWINSUK	ss1710724360	Apr 01, 2015 (144)
9	HAMMER_LAB	ss1808729909	Sep 08, 2015 (146)
10	JJLAB	ss2031329459	Sep 14, 2016 (149)
11	SYSTEMSBIOZJU	ss2628995474	Nov 08, 2017 (151)
12	MCHAISSO	ss3063862285	Nov 08, 2017 (151)
13	MCHAISSO	ss3064704813	Nov 08, 2017 (151)
14	EVA_DECODE	ss3700192452	Jul 13, 2019 (153)
15	EVA_DECODE	ss3700192453	Jul 13, 2019 (153)
16	EVA_DECODE	ss3700192454	Jul 13, 2019 (153)
17	ACPOP	ss3741921423	Jul 13, 2019 (153)
18	ACPOP	ss3741921424	Jul 13, 2019 (153)
19	PACBIO	ss3788164669	Jul 13, 2019 (153)
20	PACBIO	ss3793130666	Jul 13, 2019 (153)
21	PACBIO	ss3798016342	Jul 13, 2019 (153)
22	KHV_HUMAN_GENOMES	ss3819790647	Jul 13, 2019 (153)
23	EVA	ss3834808694	Apr 27, 2020 (154)
24	EVA	ss3846508132	Apr 27, 2020 (154)
25	KOGIC	ss3978514645	Apr 27, 2020 (154)
26	KOGIC	ss3978514646	Apr 27, 2020 (154)
27	FSA-LAB	ss3984109612	Apr 26, 2021 (155)
28	EVA	ss3986073155	Apr 26, 2021 (155)
29	GNOMAD	ss4308831897	Apr 26, 2021 (155)
30	GNOMAD	ss4308831898	Apr 26, 2021 (155)
31	GNOMAD	ss4308831899	Apr 26, 2021 (155)
32	GNOMAD	ss4308831900	Apr 26, 2021 (155)
33	GNOMAD	ss4308831901	Apr 26, 2021 (155)
34	TOMMO_GENOMICS	ss5221743660	Apr 26, 2021 (155)
35	TOMMO_GENOMICS	ss5221743661	Apr 26, 2021 (155)
36	TOMMO_GENOMICS	ss5221743662	Apr 26, 2021 (155)
37	1000G_HIGH_COVERAGE	ss5302619876	Oct 16, 2022 (156)
38	1000G_HIGH_COVERAGE	ss5302619877	Oct 16, 2022 (156)
39	1000G_HIGH_COVERAGE	ss5302619878	Oct 16, 2022 (156)
40	1000G_HIGH_COVERAGE	ss5302619879	Oct 16, 2022 (156)
41	1000G_HIGH_COVERAGE	ss5302619880	Oct 16, 2022 (156)
42	HUGCELL_USP	ss5495769228	Oct 16, 2022 (156)
43	HUGCELL_USP	ss5495769229	Oct 16, 2022 (156)
44	HUGCELL_USP	ss5495769230	Oct 16, 2022 (156)
45	EVA	ss5624069804	Oct 16, 2022 (156)
46	TOMMO_GENOMICS	ss5777411769	Oct 16, 2022 (156)
47	TOMMO_GENOMICS	ss5777411770	Oct 16, 2022 (156)
48	TOMMO_GENOMICS	ss5777411771	Oct 16, 2022 (156)
49	EVA	ss5833797537	Oct 16, 2022 (156)
50	EVA	ss5833797538	Oct 16, 2022 (156)
51	EVA	ss5851764072	Oct 16, 2022 (156)
52	EVA	ss5913434463	Oct 16, 2022 (156)
53	1000Genomes	NC_000017.10 - 17714851	Oct 12, 2018 (152)
54	The Avon Longitudinal Study of Parents and Children	NC_000017.10 - 17714851	Oct 12, 2018 (152)
55	The Danish reference pan genome	NC_000017.10 - 17714851	Apr 27, 2020 (154)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502968048 (NC_000017.11:17811536::G 643/90216) Row 502968049 (NC_000017.11:17811536::GG 120/90288) Row 502968050 (NC_000017.11:17811536::GGG 204/90204)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502968048 (NC_000017.11:17811536::G 643/90216) Row 502968049 (NC_000017.11:17811536::GG 120/90288) Row 502968050 (NC_000017.11:17811536::GGG 204/90204)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502968048 (NC_000017.11:17811536::G 643/90216) Row 502968049 (NC_000017.11:17811536::GG 120/90288) Row 502968050 (NC_000017.11:17811536::GGG 204/90204)...	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502968048 (NC_000017.11:17811536::G 643/90216) Row 502968049 (NC_000017.11:17811536::GG 120/90288) Row 502968050 (NC_000017.11:17811536::GGG 204/90204)...	-	Apr 26, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502968048 (NC_000017.11:17811536::G 643/90216) Row 502968049 (NC_000017.11:17811536::GG 120/90288) Row 502968050 (NC_000017.11:17811536::GGG 204/90204)...	-	Apr 26, 2021 (155)
61	Korean Genome Project Submission ignored due to conflicting rows: Row 34892646 (NC_000017.11:17811537:G: 1490/1802) Row 34892647 (NC_000017.11:17811536:GG: 29/1802)	-	Apr 27, 2020 (154)
62	Korean Genome Project Submission ignored due to conflicting rows: Row 34892646 (NC_000017.11:17811537:G: 1490/1802) Row 34892647 (NC_000017.11:17811536:GG: 29/1802)	-	Apr 27, 2020 (154)
63	Northern Sweden Submission ignored due to conflicting rows: Row 15206288 (NC_000017.10:17714850:G: 182/572) Row 15206289 (NC_000017.10:17714850:GG: 4/572)	-	Jul 13, 2019 (153)
64	Northern Sweden Submission ignored due to conflicting rows: Row 15206288 (NC_000017.10:17714850:G: 182/572) Row 15206289 (NC_000017.10:17714850:GG: 4/572)	-	Jul 13, 2019 (153)
65	8.3KJPN Submission ignored due to conflicting rows: Row 79712967 (NC_000017.10:17714850:G: 14537/16612) Row 79712968 (NC_000017.10:17714850:GG: 26/16612) Row 79712969 (NC_000017.10:17714850::G 12/16612)	-	Apr 26, 2021 (155)
66	8.3KJPN Submission ignored due to conflicting rows: Row 79712967 (NC_000017.10:17714850:G: 14537/16612) Row 79712968 (NC_000017.10:17714850:GG: 26/16612) Row 79712969 (NC_000017.10:17714850::G 12/16612)	-	Apr 26, 2021 (155)
67	8.3KJPN Submission ignored due to conflicting rows: Row 79712967 (NC_000017.10:17714850:G: 14537/16612) Row 79712968 (NC_000017.10:17714850:GG: 26/16612) Row 79712969 (NC_000017.10:17714850::G 12/16612)	-	Apr 26, 2021 (155)
68	14KJPN Submission ignored due to conflicting rows: Row 111248873 (NC_000017.11:17811536:G: 24383/28132) Row 111248874 (NC_000017.11:17811536:GG: 30/28132) Row 111248875 (NC_000017.11:17811536::G 24/28132)	-	Oct 16, 2022 (156)
69	14KJPN Submission ignored due to conflicting rows: Row 111248873 (NC_000017.11:17811536:G: 24383/28132) Row 111248874 (NC_000017.11:17811536:GG: 30/28132) Row 111248875 (NC_000017.11:17811536::G 24/28132)	-	Oct 16, 2022 (156)
70	14KJPN Submission ignored due to conflicting rows: Row 111248873 (NC_000017.11:17811536:G: 24383/28132) Row 111248874 (NC_000017.11:17811536:GG: 30/28132) Row 111248875 (NC_000017.11:17811536::G 24/28132)	-	Oct 16, 2022 (156)
71	UK 10K study - Twins Submission ignored due to conflicting rows: Row 39564964 (NC_000017.10:17714851:G: 1520/3708) Row 39564965 (NC_000017.10:17714850:GG: 26/3708)	-	Apr 27, 2020 (154)
72	UK 10K study - Twins	-	Oct 12, 2018 (152)
73	ALFA	NC_000017.11 - 17811537	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)
rs11313057	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
39564965, ss1708708439, ss1708708453, ss3741921424, ss3984109612, ss5221743661, ss5833797538	NC_000017.10:17714850:GG:	NC_000017.11:17811536:GGGGGGGGGGG:… NC_000017.11:17811536:GGGGGGGGGGG:GGGGGGGGG	(self)
ss3700192454, ss3978514646, ss4308831901, ss5302619880, ss5495769230, ss5777411770	NC_000017.11:17811536:GG:	NC_000017.11:17811536:GGGGGGGGGGG:… NC_000017.11:17811536:GGGGGGGGGGG:GGGGGGGGG	(self)
2111846355	NC_000017.11:17811536:GGGGGGGGGGG:… NC_000017.11:17811536:GGGGGGGGGGG:GGGGGGGGG	NC_000017.11:17811536:GGGGGGGGGGG:… NC_000017.11:17811536:GGGGGGGGGGG:GGGGGGGGG	(self)
ss40817832, ss294907242	NC_000017.9:17655585:G:	NC_000017.11:17811536:GGGGGGGGGGG:… NC_000017.11:17811536:GGGGGGGGGGG:GGGGGGGGGG	(self)
71341331, 553791, ss1376464809, ss1575030987, ss1808729909, ss2031329459, ss2628995474, ss3741921423, ss3788164669, ss3793130666, ss3798016342, ss3834808694, ss3986073155, ss5221743660, ss5624069804, ss5833797537	NC_000017.10:17714850:G:	NC_000017.11:17811536:GGGGGGGGGGG:… NC_000017.11:17811536:GGGGGGGGGGG:GGGGGGGGGG	(self)
ss1710724351, ss1710724360	NC_000017.10:17714851:G:	NC_000017.11:17811536:GGGGGGGGGGG:… NC_000017.11:17811536:GGGGGGGGGGG:GGGGGGGGGG	(self)
ss3063862285, ss3064704813, ss3819790647, ss3846508132, ss5302619876, ss5495769228, ss5777411769, ss5851764072, ss5913434463	NC_000017.11:17811536:G:	NC_000017.11:17811536:GGGGGGGGGGG:… NC_000017.11:17811536:GGGGGGGGGGG:GGGGGGGGGG	(self)
2111846355	NC_000017.11:17811536:GGGGGGGGGGG:… NC_000017.11:17811536:GGGGGGGGGGG:GGGGGGGGGG	NC_000017.11:17811536:GGGGGGGGGGG:… NC_000017.11:17811536:GGGGGGGGGGG:GGGGGGGGGG	(self)
ss3700192453, ss3978514645	NC_000017.11:17811537:G:	NC_000017.11:17811536:GGGGGGGGGGG:… NC_000017.11:17811536:GGGGGGGGGGG:GGGGGGGGGG	(self)
ss5221743662	NC_000017.10:17714850::G	NC_000017.11:17811536:GGGGGGGGGGG:… NC_000017.11:17811536:GGGGGGGGGGG:GGGGGGGGGGGG	(self)
ss4308831897, ss5302619879, ss5495769229, ss5777411771	NC_000017.11:17811536::G	NC_000017.11:17811536:GGGGGGGGGGG:… NC_000017.11:17811536:GGGGGGGGGGG:GGGGGGGGGGGG	(self)
2111846355	NC_000017.11:17811536:GGGGGGGGGGG:… NC_000017.11:17811536:GGGGGGGGGGG:GGGGGGGGGGGG	NC_000017.11:17811536:GGGGGGGGGGG:… NC_000017.11:17811536:GGGGGGGGGGG:GGGGGGGGGGGG	(self)
ss3700192452	NC_000017.11:17811538::G	NC_000017.11:17811536:GGGGGGGGGGG:… NC_000017.11:17811536:GGGGGGGGGGG:GGGGGGGGGGGG	(self)
ss4308831898, ss5302619877	NC_000017.11:17811536::GG	NC_000017.11:17811536:GGGGGGGGGGG:… NC_000017.11:17811536:GGGGGGGGGGG:GGGGGGGGGGGGG	(self)
2111846355	NC_000017.11:17811536:GGGGGGGGGGG:… NC_000017.11:17811536:GGGGGGGGGGG:GGGGGGGGGGGGG	NC_000017.11:17811536:GGGGGGGGGGG:… NC_000017.11:17811536:GGGGGGGGGGG:GGGGGGGGGGGGG	(self)
ss4308831899, ss5302619878	NC_000017.11:17811536::GGG	NC_000017.11:17811536:GGGGGGGGGGG:… NC_000017.11:17811536:GGGGGGGGGGG:GGGGGGGGGGGGGG	(self)
2111846355	NC_000017.11:17811536:GGGGGGGGGGG:… NC_000017.11:17811536:GGGGGGGGGGG:GGGGGGGGGGGGGG	NC_000017.11:17811536:GGGGGGGGGGG:… NC_000017.11:17811536:GGGGGGGGGGG:GGGGGGGGGGGGGG	(self)
ss4308831900	NC_000017.11:17811536::GGGG	NC_000017.11:17811536:GGGGGGGGGGG:… NC_000017.11:17811536:GGGGGGGGGGG:GGGGGGGGGGGGGGG	(self)
2111846355	NC_000017.11:17811536:GGGGGGGGGGG:… NC_000017.11:17811536:GGGGGGGGGGG:GGGGGGGGGGGGGGG	NC_000017.11:17811536:GGGGGGGGGGG:… NC_000017.11:17811536:GGGGGGGGGGG:GGGGGGGGGGGGGGG	(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 rs11304210

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

rs11304210