Name: rs373045911
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.

rs373045911

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:148527989-148527999 (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(G)₆ / delGGG / delGG / delG / …
del(G)₆ / delGGG / delGG / delG / dupG / dupGG / dupGGG / dup(G)₄
Variation Type: Indel Insertion and Deletion
Frequency: (G)₁₁=0.3243 (1624/5008, 1000G)
delGGG=0.0298 (115/3854, ALSPAC)
delGG=0.0000 (0/3814, ALFA) (+ 4 more)
delG=0.0000 (0/3814, ALFA)
dupG=0.0000 (0/3814, ALFA)
delG=0.442 (259/586, NorthernSweden)
delG=0.35 (14/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SASH1 : 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	HWEP
Total	Global	3814	GGGGGGGGGGG=1.0000	GGGGGGGGG=0.0000, GGGGGGGGGG=0.0000, GGGGGGGGGGGG=0.0000	1.0	N/A
European	Sub	2454	GGGGGGGGGGG=1.0000	GGGGGGGGG=0.0000, GGGGGGGGGG=0.0000, GGGGGGGGGGGG=0.0000	1.0	N/A
African	Sub	766	GGGGGGGGGGG=1.000	GGGGGGGGG=0.000, GGGGGGGGGG=0.000, GGGGGGGGGGGG=0.000	1.0	N/A
African Others	Sub	26	GGGGGGGGGGG=1.00	GGGGGGGGG=0.00, GGGGGGGGGG=0.00, GGGGGGGGGGGG=0.00	1.0	N/A
African American	Sub	740	GGGGGGGGGGG=1.000	GGGGGGGGG=0.000, GGGGGGGGGG=0.000, GGGGGGGGGGGG=0.000	1.0	N/A
Asian	Sub	28	GGGGGGGGGGG=1.00	GGGGGGGGG=0.00, GGGGGGGGGG=0.00, GGGGGGGGGGGG=0.00	1.0	N/A
East Asian	Sub	22	GGGGGGGGGGG=1.00	GGGGGGGGG=0.00, GGGGGGGGGG=0.00, GGGGGGGGGGGG=0.00	1.0	N/A
Other Asian	Sub	6	GGGGGGGGGGG=1.0	GGGGGGGGG=0.0, GGGGGGGGGG=0.0, GGGGGGGGGGGG=0.0	1.0	N/A
Latin American 1	Sub	58	GGGGGGGGGGG=1.00	GGGGGGGGG=0.00, GGGGGGGGGG=0.00, GGGGGGGGGGGG=0.00	1.0	N/A
Latin American 2	Sub	310	GGGGGGGGGGG=1.000	GGGGGGGGG=0.000, GGGGGGGGGG=0.000, GGGGGGGGGGGG=0.000	1.0	N/A
South Asian	Sub	44	GGGGGGGGGGG=1.00	GGGGGGGGG=0.00, GGGGGGGGGG=0.00, GGGGGGGGGGGG=0.00	1.0	N/A
Other	Sub	154	GGGGGGGGGGG=1.000	GGGGGGGGG=0.000, GGGGGGGGGG=0.000, GGGGGGGGGGGG=0.000	1.0	N/A

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

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
1000Genomes	Global	Study-wide	5008	(G)₁₁=0.3243	delG=0.6757
1000Genomes	African	Sub	1322	(G)₁₁=0.2284	delG=0.7716
1000Genomes	East Asian	Sub	1008	(G)₁₁=0.3452	delG=0.6548
1000Genomes	Europe	Sub	1006	(G)₁₁=0.4155	delG=0.5845
1000Genomes	South Asian	Sub	978	(G)₁₁=0.318	delG=0.682
1000Genomes	American	Sub	694	(G)₁₁=0.353	delG=0.647
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	(G)₁₁=0.9702	delGGG=0.0298
Allele Frequency Aggregator	Total	Global	3814	(G)₁₁=1.0000	delGG=0.0000, delG=0.0000, dupG=0.0000
Allele Frequency Aggregator	European	Sub	2454	(G)₁₁=1.0000	delGG=0.0000, delG=0.0000, dupG=0.0000
Allele Frequency Aggregator	African	Sub	766	(G)₁₁=1.000	delGG=0.000, delG=0.000, dupG=0.000
Allele Frequency Aggregator	Latin American 2	Sub	310	(G)₁₁=1.000	delGG=0.000, delG=0.000, dupG=0.000
Allele Frequency Aggregator	Other	Sub	154	(G)₁₁=1.000	delGG=0.000, delG=0.000, dupG=0.000
Allele Frequency Aggregator	Latin American 1	Sub	58	(G)₁₁=1.00	delGG=0.00, delG=0.00, dupG=0.00
Allele Frequency Aggregator	South Asian	Sub	44	(G)₁₁=1.00	delGG=0.00, delG=0.00, dupG=0.00
Allele Frequency Aggregator	Asian	Sub	28	(G)₁₁=1.00	delGG=0.00, delG=0.00, dupG=0.00
Northern Sweden	ACPOP	Study-wide	586	(G)₁₁=0.558	delG=0.442
The Danish reference pan genome	Danish	Study-wide	40	(G)₁₁=0.65	delG=0.35

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 6	NC_000006.12:g.148527994_148527999del
GRCh38.p14 chr 6	NC_000006.12:g.148527997_148527999del
GRCh38.p14 chr 6	NC_000006.12:g.148527998_148527999del
GRCh38.p14 chr 6	NC_000006.12:g.148527999del
GRCh38.p14 chr 6	NC_000006.12:g.148527999dup
GRCh38.p14 chr 6	NC_000006.12:g.148527998_148527999dup
GRCh38.p14 chr 6	NC_000006.12:g.148527997_148527999dup
GRCh38.p14 chr 6	NC_000006.12:g.148527996_148527999dup
GRCh37.p13 chr 6	NC_000006.11:g.148849130_148849135del
GRCh37.p13 chr 6	NC_000006.11:g.148849133_148849135del
GRCh37.p13 chr 6	NC_000006.11:g.148849134_148849135del
GRCh37.p13 chr 6	NC_000006.11:g.148849135del
GRCh37.p13 chr 6	NC_000006.11:g.148849135dup
GRCh37.p13 chr 6	NC_000006.11:g.148849134_148849135dup
GRCh37.p13 chr 6	NC_000006.11:g.148849133_148849135dup
GRCh37.p13 chr 6	NC_000006.11:g.148849132_148849135dup
SASH1 RefSeqGene	NG_051927.1:g.260719_260724del
SASH1 RefSeqGene	NG_051927.1:g.260722_260724del
SASH1 RefSeqGene	NG_051927.1:g.260723_260724del
SASH1 RefSeqGene	NG_051927.1:g.260724del
SASH1 RefSeqGene	NG_051927.1:g.260724dup
SASH1 RefSeqGene	NG_051927.1:g.260723_260724dup
SASH1 RefSeqGene	NG_051927.1:g.260722_260724dup
SASH1 RefSeqGene	NG_051927.1:g.260721_260724dup

Gene: SASH1, SAM and SH3 domain containing 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SASH1 transcript variant 2	NM_001346505.2:c.1293+398… NM_001346505.2:c.1293+398_1293+403del	N/A	Intron Variant
SASH1 transcript variant 3	NM_001346506.2:c.1056+398… NM_001346506.2:c.1056+398_1056+403del	N/A	Intron Variant
SASH1 transcript variant 4	NM_001346507.2:c.711+398_… NM_001346507.2:c.711+398_711+403del	N/A	Intron Variant
SASH1 transcript variant 5	NM_001346508.2:c.1200+398… NM_001346508.2:c.1200+398_1200+403del	N/A	Intron Variant
SASH1 transcript variant 6	NM_001346509.2:c.1077+398… NM_001346509.2:c.1077+398_1077+403del	N/A	Intron Variant
SASH1 transcript variant 1	NM_015278.5:c.1428+398_14… NM_015278.5:c.1428+398_1428+403del	N/A	Intron Variant
SASH1 transcript variant X1	XM_017010598.3:c.1917+398… XM_017010598.3:c.1917+398_1917+403del	N/A	Intron Variant
SASH1 transcript variant X2	XM_017010599.2:c.1806+398… XM_017010599.2:c.1806+398_1806+403del	N/A	Intron Variant
SASH1 transcript variant X3	XM_017010600.2:c.1782+398… XM_017010600.2:c.1782+398_1782+403del	N/A	Intron Variant
SASH1 transcript variant X6	XM_017010605.2:c.1545+398… XM_017010605.2:c.1545+398_1545+403del	N/A	Intron Variant
SASH1 transcript variant X9	XM_024446384.2:c.1317+398… XM_024446384.2:c.1317+398_1317+403del	N/A	Intron Variant
SASH1 transcript variant X10	XM_024446385.2:c.1191+398… XM_024446385.2:c.1191+398_1191+403del	N/A	Intron Variant
SASH1 transcript variant X4	XM_047418496.1:c.1638+398… XM_047418496.1:c.1638+398_1638+403del	N/A	Intron Variant
SASH1 transcript variant X5	XM_047418497.1:c.1638+398… XM_047418497.1:c.1638+398_1638+403del	N/A	Intron Variant
SASH1 transcript variant X7	XM_047418498.1:c.1422+398… XM_047418498.1:c.1422+398_1422+403del	N/A	Intron Variant
SASH1 transcript variant X8	XM_047418499.1:c.1422+398… XM_047418499.1:c.1422+398_1422+403del	N/A	Intron Variant
SASH1 transcript variant X11	XM_047418500.1:c.1188+398… XM_047418500.1:c.1188+398_1188+403del	N/A	Intron Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	(G)₁₁=	del(G)₆	delGGG	delGG	delG	dupG	dupGG	dupGGG	dup(G)₄
GRCh38.p14 chr 6	NC_000006.12:g.148527989_148527999=	NC_000006.12:g.148527994_148527999del	NC_000006.12:g.148527997_148527999del	NC_000006.12:g.148527998_148527999del	NC_000006.12:g.148527999del	NC_000006.12:g.148527999dup	NC_000006.12:g.148527998_148527999dup	NC_000006.12:g.148527997_148527999dup	NC_000006.12:g.148527996_148527999dup
GRCh37.p13 chr 6	NC_000006.11:g.148849125_148849135=	NC_000006.11:g.148849130_148849135del	NC_000006.11:g.148849133_148849135del	NC_000006.11:g.148849134_148849135del	NC_000006.11:g.148849135del	NC_000006.11:g.148849135dup	NC_000006.11:g.148849134_148849135dup	NC_000006.11:g.148849133_148849135dup	NC_000006.11:g.148849132_148849135dup
SASH1 RefSeqGene	NG_051927.1:g.260714_260724=	NG_051927.1:g.260719_260724del	NG_051927.1:g.260722_260724del	NG_051927.1:g.260723_260724del	NG_051927.1:g.260724del	NG_051927.1:g.260724dup	NG_051927.1:g.260723_260724dup	NG_051927.1:g.260722_260724dup	NG_051927.1:g.260721_260724dup
SASH1 transcript variant 2	NM_001346505.2:c.1293+393=	NM_001346505.2:c.1293+398_1293+403del	NM_001346505.2:c.1293+401_1293+403del	NM_001346505.2:c.1293+402_1293+403del	NM_001346505.2:c.1293+403del	NM_001346505.2:c.1293+403dup	NM_001346505.2:c.1293+402_1293+403dup	NM_001346505.2:c.1293+401_1293+403dup	NM_001346505.2:c.1293+400_1293+403dup
SASH1 transcript variant 3	NM_001346506.2:c.1056+393=	NM_001346506.2:c.1056+398_1056+403del	NM_001346506.2:c.1056+401_1056+403del	NM_001346506.2:c.1056+402_1056+403del	NM_001346506.2:c.1056+403del	NM_001346506.2:c.1056+403dup	NM_001346506.2:c.1056+402_1056+403dup	NM_001346506.2:c.1056+401_1056+403dup	NM_001346506.2:c.1056+400_1056+403dup
SASH1 transcript variant 4	NM_001346507.2:c.711+393=	NM_001346507.2:c.711+398_711+403del	NM_001346507.2:c.711+401_711+403del	NM_001346507.2:c.711+402_711+403del	NM_001346507.2:c.711+403del	NM_001346507.2:c.711+403dup	NM_001346507.2:c.711+402_711+403dup	NM_001346507.2:c.711+401_711+403dup	NM_001346507.2:c.711+400_711+403dup
SASH1 transcript variant 5	NM_001346508.2:c.1200+393=	NM_001346508.2:c.1200+398_1200+403del	NM_001346508.2:c.1200+401_1200+403del	NM_001346508.2:c.1200+402_1200+403del	NM_001346508.2:c.1200+403del	NM_001346508.2:c.1200+403dup	NM_001346508.2:c.1200+402_1200+403dup	NM_001346508.2:c.1200+401_1200+403dup	NM_001346508.2:c.1200+400_1200+403dup
SASH1 transcript variant 6	NM_001346509.2:c.1077+393=	NM_001346509.2:c.1077+398_1077+403del	NM_001346509.2:c.1077+401_1077+403del	NM_001346509.2:c.1077+402_1077+403del	NM_001346509.2:c.1077+403del	NM_001346509.2:c.1077+403dup	NM_001346509.2:c.1077+402_1077+403dup	NM_001346509.2:c.1077+401_1077+403dup	NM_001346509.2:c.1077+400_1077+403dup
SASH1 transcript	NM_015278.3:c.1428+393=	NM_015278.3:c.1428+398_1428+403del	NM_015278.3:c.1428+401_1428+403del	NM_015278.3:c.1428+402_1428+403del	NM_015278.3:c.1428+403del	NM_015278.3:c.1428+403dup	NM_015278.3:c.1428+402_1428+403dup	NM_015278.3:c.1428+401_1428+403dup	NM_015278.3:c.1428+400_1428+403dup
SASH1 transcript variant 1	NM_015278.5:c.1428+393=	NM_015278.5:c.1428+398_1428+403del	NM_015278.5:c.1428+401_1428+403del	NM_015278.5:c.1428+402_1428+403del	NM_015278.5:c.1428+403del	NM_015278.5:c.1428+403dup	NM_015278.5:c.1428+402_1428+403dup	NM_015278.5:c.1428+401_1428+403dup	NM_015278.5:c.1428+400_1428+403dup
SASH1 transcript variant X1	XM_005266874.1:c.1536+393=	XM_005266874.1:c.1536+398_1536+403del	XM_005266874.1:c.1536+401_1536+403del	XM_005266874.1:c.1536+402_1536+403del	XM_005266874.1:c.1536+403del	XM_005266874.1:c.1536+403dup	XM_005266874.1:c.1536+402_1536+403dup	XM_005266874.1:c.1536+401_1536+403dup	XM_005266874.1:c.1536+400_1536+403dup
SASH1 transcript variant X12	XM_005266875.1:c.711+393=	XM_005266875.1:c.711+398_711+403del	XM_005266875.1:c.711+401_711+403del	XM_005266875.1:c.711+402_711+403del	XM_005266875.1:c.711+403del	XM_005266875.1:c.711+403dup	XM_005266875.1:c.711+402_711+403dup	XM_005266875.1:c.711+401_711+403dup	XM_005266875.1:c.711+400_711+403dup
SASH1 transcript variant X3	XM_005266876.1:c.702+393=	XM_005266876.1:c.702+398_702+403del	XM_005266876.1:c.702+401_702+403del	XM_005266876.1:c.702+402_702+403del	XM_005266876.1:c.702+403del	XM_005266876.1:c.702+403dup	XM_005266876.1:c.702+402_702+403dup	XM_005266876.1:c.702+401_702+403dup	XM_005266876.1:c.702+400_702+403dup
SASH1 transcript variant X1	XM_017010598.3:c.1917+393=	XM_017010598.3:c.1917+398_1917+403del	XM_017010598.3:c.1917+401_1917+403del	XM_017010598.3:c.1917+402_1917+403del	XM_017010598.3:c.1917+403del	XM_017010598.3:c.1917+403dup	XM_017010598.3:c.1917+402_1917+403dup	XM_017010598.3:c.1917+401_1917+403dup	XM_017010598.3:c.1917+400_1917+403dup
SASH1 transcript variant X2	XM_017010599.2:c.1806+393=	XM_017010599.2:c.1806+398_1806+403del	XM_017010599.2:c.1806+401_1806+403del	XM_017010599.2:c.1806+402_1806+403del	XM_017010599.2:c.1806+403del	XM_017010599.2:c.1806+403dup	XM_017010599.2:c.1806+402_1806+403dup	XM_017010599.2:c.1806+401_1806+403dup	XM_017010599.2:c.1806+400_1806+403dup
SASH1 transcript variant X3	XM_017010600.2:c.1782+393=	XM_017010600.2:c.1782+398_1782+403del	XM_017010600.2:c.1782+401_1782+403del	XM_017010600.2:c.1782+402_1782+403del	XM_017010600.2:c.1782+403del	XM_017010600.2:c.1782+403dup	XM_017010600.2:c.1782+402_1782+403dup	XM_017010600.2:c.1782+401_1782+403dup	XM_017010600.2:c.1782+400_1782+403dup
SASH1 transcript variant X6	XM_017010605.2:c.1545+393=	XM_017010605.2:c.1545+398_1545+403del	XM_017010605.2:c.1545+401_1545+403del	XM_017010605.2:c.1545+402_1545+403del	XM_017010605.2:c.1545+403del	XM_017010605.2:c.1545+403dup	XM_017010605.2:c.1545+402_1545+403dup	XM_017010605.2:c.1545+401_1545+403dup	XM_017010605.2:c.1545+400_1545+403dup
SASH1 transcript variant X9	XM_024446384.2:c.1317+393=	XM_024446384.2:c.1317+398_1317+403del	XM_024446384.2:c.1317+401_1317+403del	XM_024446384.2:c.1317+402_1317+403del	XM_024446384.2:c.1317+403del	XM_024446384.2:c.1317+403dup	XM_024446384.2:c.1317+402_1317+403dup	XM_024446384.2:c.1317+401_1317+403dup	XM_024446384.2:c.1317+400_1317+403dup
SASH1 transcript variant X10	XM_024446385.2:c.1191+393=	XM_024446385.2:c.1191+398_1191+403del	XM_024446385.2:c.1191+401_1191+403del	XM_024446385.2:c.1191+402_1191+403del	XM_024446385.2:c.1191+403del	XM_024446385.2:c.1191+403dup	XM_024446385.2:c.1191+402_1191+403dup	XM_024446385.2:c.1191+401_1191+403dup	XM_024446385.2:c.1191+400_1191+403dup
SASH1 transcript variant X4	XM_047418496.1:c.1638+393=	XM_047418496.1:c.1638+398_1638+403del	XM_047418496.1:c.1638+401_1638+403del	XM_047418496.1:c.1638+402_1638+403del	XM_047418496.1:c.1638+403del	XM_047418496.1:c.1638+403dup	XM_047418496.1:c.1638+402_1638+403dup	XM_047418496.1:c.1638+401_1638+403dup	XM_047418496.1:c.1638+400_1638+403dup
SASH1 transcript variant X5	XM_047418497.1:c.1638+393=	XM_047418497.1:c.1638+398_1638+403del	XM_047418497.1:c.1638+401_1638+403del	XM_047418497.1:c.1638+402_1638+403del	XM_047418497.1:c.1638+403del	XM_047418497.1:c.1638+403dup	XM_047418497.1:c.1638+402_1638+403dup	XM_047418497.1:c.1638+401_1638+403dup	XM_047418497.1:c.1638+400_1638+403dup
SASH1 transcript variant X7	XM_047418498.1:c.1422+393=	XM_047418498.1:c.1422+398_1422+403del	XM_047418498.1:c.1422+401_1422+403del	XM_047418498.1:c.1422+402_1422+403del	XM_047418498.1:c.1422+403del	XM_047418498.1:c.1422+403dup	XM_047418498.1:c.1422+402_1422+403dup	XM_047418498.1:c.1422+401_1422+403dup	XM_047418498.1:c.1422+400_1422+403dup
SASH1 transcript variant X8	XM_047418499.1:c.1422+393=	XM_047418499.1:c.1422+398_1422+403del	XM_047418499.1:c.1422+401_1422+403del	XM_047418499.1:c.1422+402_1422+403del	XM_047418499.1:c.1422+403del	XM_047418499.1:c.1422+403dup	XM_047418499.1:c.1422+402_1422+403dup	XM_047418499.1:c.1422+401_1422+403dup	XM_047418499.1:c.1422+400_1422+403dup
SASH1 transcript variant X11	XM_047418500.1:c.1188+393=	XM_047418500.1:c.1188+398_1188+403del	XM_047418500.1:c.1188+401_1188+403del	XM_047418500.1:c.1188+402_1188+403del	XM_047418500.1:c.1188+403del	XM_047418500.1:c.1188+403dup	XM_047418500.1:c.1188+402_1188+403dup	XM_047418500.1:c.1188+401_1188+403dup	XM_047418500.1:c.1188+400_1188+403dup

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#.

49 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HUMANGENOME_JCVI	ss95445240	Mar 15, 2016 (147)
2	HUMANGENOME_JCVI	ss98464822	Oct 12, 2018 (152)
3	SSMP	ss663663103	Apr 01, 2015 (144)
4	1000GENOMES	ss1376370818	Aug 21, 2014 (142)
5	EVA_GENOME_DK	ss1576879016	Apr 01, 2015 (144)
6	EVA_UK10K_ALSPAC	ss1705416115	Apr 01, 2015 (144)
7	EVA_UK10K_TWINSUK	ss1705416127	Apr 01, 2015 (144)
8	EVA_UK10K_TWINSUK	ss1710299679	Apr 01, 2015 (144)
9	EVA_UK10K_ALSPAC	ss1710299706	Apr 01, 2015 (144)
10	PADH-LAB_SPU	ss1751238608	Sep 08, 2015 (146)
11	HAMMER_LAB	ss1804728997	Sep 08, 2015 (146)
12	JJLAB	ss2030804419	Sep 14, 2016 (149)
13	SYSTEMSBIOZJU	ss2626540877	Nov 08, 2017 (151)
14	SWEGEN	ss3000156001	Nov 08, 2017 (151)
15	MCHAISSO	ss3064230853	Nov 08, 2017 (151)
16	MCHAISSO	ss3066113120	Nov 08, 2017 (151)
17	BEROUKHIMLAB	ss3644225567	Oct 12, 2018 (152)
18	BIOINF_KMB_FNS_UNIBA	ss3645993735	Oct 12, 2018 (152)
19	URBANLAB	ss3648495718	Oct 12, 2018 (152)
20	EVA_DECODE	ss3718533186	Jul 13, 2019 (153)
21	EVA_DECODE	ss3718533187	Jul 13, 2019 (153)
22	EVA_DECODE	ss3718533188	Jul 13, 2019 (153)
23	EVA_DECODE	ss3718533189	Jul 13, 2019 (153)
24	EVA_DECODE	ss3718533190	Jul 13, 2019 (153)
25	ACPOP	ss3734094761	Jul 13, 2019 (153)
26	KHV_HUMAN_GENOMES	ss3808989651	Jul 13, 2019 (153)
27	EVA	ss3830255546	Apr 26, 2020 (154)
28	EVA	ss3844062552	Apr 26, 2020 (154)
29	KOGIC	ss3960318164	Apr 26, 2020 (154)
30	KOGIC	ss3960318165	Apr 26, 2020 (154)
31	GNOMAD	ss4153722159	Apr 26, 2021 (155)
32	GNOMAD	ss4153722160	Apr 26, 2021 (155)
33	GNOMAD	ss4153722161	Apr 26, 2021 (155)
34	GNOMAD	ss4153722162	Apr 26, 2021 (155)
35	GNOMAD	ss4153722164	Apr 26, 2021 (155)
36	GNOMAD	ss4153722165	Apr 26, 2021 (155)
37	TOMMO_GENOMICS	ss5180515894	Apr 26, 2021 (155)
38	TOMMO_GENOMICS	ss5180515895	Apr 26, 2021 (155)
39	TOMMO_GENOMICS	ss5180515896	Apr 26, 2021 (155)
40	1000G_HIGH_COVERAGE	ss5270810456	Oct 13, 2022 (156)
41	HUGCELL_USP	ss5468213176	Oct 13, 2022 (156)
42	HUGCELL_USP	ss5468213178	Oct 13, 2022 (156)
43	SANFORD_IMAGENETICS	ss5641755804	Oct 13, 2022 (156)
44	TOMMO_GENOMICS	ss5719564912	Oct 13, 2022 (156)
45	TOMMO_GENOMICS	ss5719564913	Oct 13, 2022 (156)
46	TOMMO_GENOMICS	ss5719564915	Oct 13, 2022 (156)
47	EVA	ss5843167983	Oct 13, 2022 (156)
48	EVA	ss5843167984	Oct 13, 2022 (156)
49	EVA	ss5855636322	Oct 13, 2022 (156)
50	1000Genomes	NC_000006.11 - 148849125	Oct 12, 2018 (152)
51	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 148849125	Oct 12, 2018 (152)
52	The Danish reference pan genome	NC_000006.11 - 148849125	Apr 26, 2020 (154)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 244958180 (NC_000006.12:148527988::G 99/106674) Row 244958181 (NC_000006.12:148527988::GG 43/106660) Row 244958182 (NC_000006.12:148527988::GGG 5/106694)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 244958180 (NC_000006.12:148527988::G 99/106674) Row 244958181 (NC_000006.12:148527988::GG 43/106660) Row 244958182 (NC_000006.12:148527988::GGG 5/106694)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 244958180 (NC_000006.12:148527988::G 99/106674) Row 244958181 (NC_000006.12:148527988::GG 43/106660) Row 244958182 (NC_000006.12:148527988::GGG 5/106694)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 244958180 (NC_000006.12:148527988::G 99/106674) Row 244958181 (NC_000006.12:148527988::GG 43/106660) Row 244958182 (NC_000006.12:148527988::GGG 5/106694)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 244958180 (NC_000006.12:148527988::G 99/106674) Row 244958181 (NC_000006.12:148527988::GG 43/106660) Row 244958182 (NC_000006.12:148527988::GGG 5/106694)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 244958180 (NC_000006.12:148527988::G 99/106674) Row 244958181 (NC_000006.12:148527988::GG 43/106660) Row 244958182 (NC_000006.12:148527988::GGG 5/106694)...	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 244958180 (NC_000006.12:148527988::G 99/106674) Row 244958181 (NC_000006.12:148527988::GG 43/106660) Row 244958182 (NC_000006.12:148527988::GGG 5/106694)...	-	Apr 26, 2021 (155)
60	Korean Genome Project Submission ignored due to conflicting rows: Row 16696165 (NC_000006.12:148527989:G: 608/1818) Row 16696166 (NC_000006.12:148527990::G 6/1818)	-	Apr 26, 2020 (154)
61	Korean Genome Project Submission ignored due to conflicting rows: Row 16696165 (NC_000006.12:148527989:G: 608/1818) Row 16696166 (NC_000006.12:148527990::G 6/1818)	-	Apr 26, 2020 (154)
62	Northern Sweden	NC_000006.11 - 148849125	Jul 13, 2019 (153)
63	8.3KJPN Submission ignored due to conflicting rows: Row 38485201 (NC_000006.11:148849124:G: 6117/16558) Row 38485202 (NC_000006.11:148849124:GG: 8/16558) Row 38485203 (NC_000006.11:148849124::G 48/16558)	-	Apr 26, 2021 (155)
64	8.3KJPN Submission ignored due to conflicting rows: Row 38485201 (NC_000006.11:148849124:G: 6117/16558) Row 38485202 (NC_000006.11:148849124:GG: 8/16558) Row 38485203 (NC_000006.11:148849124::G 48/16558)	-	Apr 26, 2021 (155)
65	8.3KJPN Submission ignored due to conflicting rows: Row 38485201 (NC_000006.11:148849124:G: 6117/16558) Row 38485202 (NC_000006.11:148849124:GG: 8/16558) Row 38485203 (NC_000006.11:148849124::G 48/16558)	-	Apr 26, 2021 (155)
66	14KJPN Submission ignored due to conflicting rows: Row 53402016 (NC_000006.12:148527988:G: 10342/28248) Row 53402017 (NC_000006.12:148527988:GG: 8/28248) Row 53402019 (NC_000006.12:148527988::G 93/28248)	-	Oct 13, 2022 (156)
67	14KJPN Submission ignored due to conflicting rows: Row 53402016 (NC_000006.12:148527988:G: 10342/28248) Row 53402017 (NC_000006.12:148527988:GG: 8/28248) Row 53402019 (NC_000006.12:148527988::G 93/28248)	-	Oct 13, 2022 (156)
68	14KJPN Submission ignored due to conflicting rows: Row 53402016 (NC_000006.12:148527988:G: 10342/28248) Row 53402017 (NC_000006.12:148527988:GG: 8/28248) Row 53402019 (NC_000006.12:148527988::G 93/28248)	-	Oct 13, 2022 (156)
69	UK 10K study - Twins Submission ignored due to conflicting rows: Row 19340670 (NC_000006.11:148849126:G: 2506/3708) Row 19340671 (NC_000006.11:148849124:GGG: 89/3708)	-	Apr 26, 2020 (154)
70	UK 10K study - Twins	-	Oct 12, 2018 (152)
71	ALFA	NC_000006.12 - 148527989	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)
rs373810381	May 13, 2013 (138)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4153722165	NC_000006.12:148527988:GGGGGG:	NC_000006.12:148527988:GGGGGGGGGGG… NC_000006.12:148527988:GGGGGGGGGGG:GGGGG	(self)
19340671, ss1705416115, ss1705416127	NC_000006.11:148849124:GGG:	NC_000006.12:148527988:GGGGGGGGGGG… NC_000006.12:148527988:GGGGGGGGGGG:GGGGGGGG	(self)
ss3718533190	NC_000006.12:148527988:GGG:	NC_000006.12:148527988:GGGGGGGGGGG… NC_000006.12:148527988:GGGGGGGGGGG:GGGGGGGG	(self)
ss3000156001, ss5180515895, ss5843167984	NC_000006.11:148849124:GG:	NC_000006.12:148527988:GGGGGGGGGGG… NC_000006.12:148527988:GGGGGGGGGGG:GGGGGGGGG	(self)
ss4153722164, ss5719564913	NC_000006.12:148527988:GG:	NC_000006.12:148527988:GGGGGGGGGGG… NC_000006.12:148527988:GGGGGGGGGGG:GGGGGGGGG	(self)
7708733445	NC_000006.12:148527988:GGGGGGGGGGG… NC_000006.12:148527988:GGGGGGGGGGG:GGGGGGGGG	NC_000006.12:148527988:GGGGGGGGGGG… NC_000006.12:148527988:GGGGGGGGGGG:GGGGGGGGG	(self)
ss3718533189	NC_000006.12:148527989:GG:	NC_000006.12:148527988:GGGGGGGGGGG… NC_000006.12:148527988:GGGGGGGGGGG:GGGGGGGGG	(self)
ss95445240	NT_025741.15:53018588:GG:	NC_000006.12:148527988:GGGGGGGGGGG… NC_000006.12:148527988:GGGGGGGGGGG:GGGGGGGGG	(self)
34689558, 1116111, 7379626, ss663663103, ss1376370818, ss1576879016, ss1751238608, ss1804728997, ss2030804419, ss2626540877, ss3644225567, ss3734094761, ss3830255546, ss5180515894, ss5641755804, ss5843167983	NC_000006.11:148849124:G:	NC_000006.12:148527988:GGGGGGGGGGG… NC_000006.12:148527988:GGGGGGGGGGG:GGGGGGGGGG	(self)
ss1710299679, ss1710299706	NC_000006.11:148849126:G:	NC_000006.12:148527988:GGGGGGGGGGG… NC_000006.12:148527988:GGGGGGGGGGG:GGGGGGGGGG	(self)
ss3064230853, ss3066113120, ss3645993735, ss3648495718, ss3808989651, ss3844062552, ss5270810456, ss5468213176, ss5719564912, ss5855636322	NC_000006.12:148527988:G:	NC_000006.12:148527988:GGGGGGGGGGG… NC_000006.12:148527988:GGGGGGGGGGG:GGGGGGGGGG	(self)
7708733445	NC_000006.12:148527988:GGGGGGGGGGG… NC_000006.12:148527988:GGGGGGGGGGG:GGGGGGGGGG	NC_000006.12:148527988:GGGGGGGGGGG… NC_000006.12:148527988:GGGGGGGGGGG:GGGGGGGGGG	(self)
ss3960318164	NC_000006.12:148527989:G:	NC_000006.12:148527988:GGGGGGGGGGG… NC_000006.12:148527988:GGGGGGGGGGG:GGGGGGGGGG	(self)
ss3718533188	NC_000006.12:148527990:G:	NC_000006.12:148527988:GGGGGGGGGGG… NC_000006.12:148527988:GGGGGGGGGGG:GGGGGGGGGG	(self)
ss95445240	NT_025741.15:53018588:GG:G	NC_000006.12:148527988:GGGGGGGGGGG… NC_000006.12:148527988:GGGGGGGGGGG:GGGGGGGGGG	(self)
ss5180515896	NC_000006.11:148849124::G	NC_000006.12:148527988:GGGGGGGGGGG… NC_000006.12:148527988:GGGGGGGGGGG:GGGGGGGGGGGG	(self)
ss4153722159, ss5719564915	NC_000006.12:148527988::G	NC_000006.12:148527988:GGGGGGGGGGG… NC_000006.12:148527988:GGGGGGGGGGG:GGGGGGGGGGGG	(self)
7708733445	NC_000006.12:148527988:GGGGGGGGGGG… NC_000006.12:148527988:GGGGGGGGGGG:GGGGGGGGGGGG	NC_000006.12:148527988:GGGGGGGGGGG… NC_000006.12:148527988:GGGGGGGGGGG:GGGGGGGGGGGG	(self)
ss3960318165	NC_000006.12:148527990::G	NC_000006.12:148527988:GGGGGGGGGGG… NC_000006.12:148527988:GGGGGGGGGGG:GGGGGGGGGGGG	(self)
ss3718533187	NC_000006.12:148527991::G	NC_000006.12:148527988:GGGGGGGGGGG… NC_000006.12:148527988:GGGGGGGGGGG:GGGGGGGGGGGG	(self)
ss98464822	NT_025741.15:53018589:G:GG	NC_000006.12:148527988:GGGGGGGGGGG… NC_000006.12:148527988:GGGGGGGGGGG:GGGGGGGGGGGG	(self)
ss4153722160, ss5468213178	NC_000006.12:148527988::GG	NC_000006.12:148527988:GGGGGGGGGGG… NC_000006.12:148527988:GGGGGGGGGGG:GGGGGGGGGGGGG	(self)
ss3718533186	NC_000006.12:148527991::GG	NC_000006.12:148527988:GGGGGGGGGGG… NC_000006.12:148527988:GGGGGGGGGGG:GGGGGGGGGGGGG	(self)
ss4153722161	NC_000006.12:148527988::GGG	NC_000006.12:148527988:GGGGGGGGGGG… NC_000006.12:148527988:GGGGGGGGGGG:GGGGGGGGGGGGGG	(self)
ss4153722162	NC_000006.12:148527988::GGGG	NC_000006.12:148527988:GGGGGGGGGGG… NC_000006.12:148527988: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 rs373045911

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

rs373045911