Name: rs1028387
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.

rs1028387

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:71932672 (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: A>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.361755 (95753/264690, TOPMED)
G=0.367993 (51480/139894, GnomAD)
G=0.37666 (17453/46336, ALFA) (+ 18 more)
A=0.48977 (13840/28258, 14KJPN)
A=0.49427 (8284/16760, 8.3KJPN)
G=0.3512 (2249/6404, 1000G_30x)
G=0.3572 (1789/5008, 1000G)
G=0.4069 (1823/4480, Estonian)
G=0.4004 (1543/3854, ALSPAC)
G=0.3830 (1420/3708, TWINSUK)
A=0.4744 (1390/2930, KOREAN)
G=0.3451 (653/1892, HapMap)
A=0.4836 (886/1832, Korea1K)
G=0.428 (427/998, GoNL)
G=0.307 (192/626, Chileans)
G=0.417 (250/600, NorthernSweden)
A=0.379 (113/298, SGDP_PRJ)
G=0.269 (58/216, Qatari)
G=0.403 (87/216, Vietnamese)
A=0.36 (15/42, Siberian)
G=0.38 (15/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: RIMS1 : 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: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	46336	A=0.62334	G=0.37666
European	Sub	32150	A=0.61453	G=0.38547
African	Sub	4932	A=0.6839	G=0.3161
African Others	Sub	180	A=0.633	G=0.367
African American	Sub	4752	A=0.6858	G=0.3142
Asian	Sub	434	A=0.544	G=0.456
East Asian	Sub	368	A=0.516	G=0.484
Other Asian	Sub	66	A=0.70	G=0.30
Latin American 1	Sub	574	A=0.631	G=0.369
Latin American 2	Sub	4842	A=0.6200	G=0.3800
South Asian	Sub	162	A=0.728	G=0.272
Other	Sub	3242	A=0.6277	G=0.3723

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
TopMed	Global	Study-wide	264690	A=0.638245	G=0.361755
gnomAD - Genomes	Global	Study-wide	139894	A=0.632007	G=0.367993
gnomAD - Genomes	European	Sub	75780	A=0.60647	G=0.39353
gnomAD - Genomes	African	Sub	41914	A=0.67701	G=0.32299
gnomAD - Genomes	American	Sub	13604	A=0.64216	G=0.35784
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	A=0.6743	G=0.3257
gnomAD - Genomes	East Asian	Sub	3124	A=0.5531	G=0.4469
gnomAD - Genomes	Other	Sub	2150	A=0.6400	G=0.3600
Allele Frequency Aggregator	Total	Global	46336	A=0.62334	G=0.37666
Allele Frequency Aggregator	European	Sub	32150	A=0.61453	G=0.38547
Allele Frequency Aggregator	African	Sub	4932	A=0.6839	G=0.3161
Allele Frequency Aggregator	Latin American 2	Sub	4842	A=0.6200	G=0.3800
Allele Frequency Aggregator	Other	Sub	3242	A=0.6277	G=0.3723
Allele Frequency Aggregator	Latin American 1	Sub	574	A=0.631	G=0.369
Allele Frequency Aggregator	Asian	Sub	434	A=0.544	G=0.456
Allele Frequency Aggregator	South Asian	Sub	162	A=0.728	G=0.272
14KJPN	JAPANESE	Study-wide	28258	A=0.48977	G=0.51023
8.3KJPN	JAPANESE	Study-wide	16760	A=0.49427	G=0.50573
1000Genomes_30x	Global	Study-wide	6404	A=0.6488	G=0.3512
1000Genomes_30x	African	Sub	1786	A=0.6965	G=0.3035
1000Genomes_30x	Europe	Sub	1266	A=0.6414	G=0.3586
1000Genomes_30x	South Asian	Sub	1202	A=0.6938	G=0.3062
1000Genomes_30x	East Asian	Sub	1170	A=0.5419	G=0.4581
1000Genomes_30x	American	Sub	980	A=0.644	G=0.356
1000Genomes	Global	Study-wide	5008	A=0.6428	G=0.3572
1000Genomes	African	Sub	1322	A=0.6982	G=0.3018
1000Genomes	East Asian	Sub	1008	A=0.5238	G=0.4762
1000Genomes	Europe	Sub	1006	A=0.6352	G=0.3648
1000Genomes	South Asian	Sub	978	A=0.697	G=0.303
1000Genomes	American	Sub	694	A=0.644	G=0.356
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.5931	G=0.4069
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.5996	G=0.4004
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.6170	G=0.3830
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.4744	G=0.5256
HapMap	Global	Study-wide	1892	A=0.6549	G=0.3451
HapMap	American	Sub	770	A=0.648	G=0.352
HapMap	African	Sub	692	A=0.717	G=0.283
HapMap	Asian	Sub	254	A=0.469	G=0.531
HapMap	Europe	Sub	176	A=0.710	G=0.290
Korean Genome Project	KOREAN	Study-wide	1832	A=0.4836	G=0.5164
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.572	G=0.428
Chileans	Chilean	Study-wide	626	A=0.693	G=0.307
Northern Sweden	ACPOP	Study-wide	600	A=0.583	G=0.417
SGDP_PRJ	Global	Study-wide	298	A=0.379	G=0.621
Qatari	Global	Study-wide	216	A=0.731	G=0.269
A Vietnamese Genetic Variation Database	Global	Study-wide	216	A=0.597	G=0.403
Siberian	Global	Study-wide	42	A=0.36	G=0.64
The Danish reference pan genome	Danish	Study-wide	40	A=0.62	G=0.38

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.71932672A>G
GRCh37.p13 chr 6	NC_000006.11:g.72642375A>G
RIMS1 RefSeqGene	NG_016209.1:g.50726A>G

Gene: RIMS1, regulating synaptic membrane exocytosis 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RIMS1 transcript variant 7	NM_001350411.1:c.165-3631… NM_001350411.1:c.165-36311A>G	N/A	Intron Variant
RIMS1 transcript variant 8	NM_001350412.1:c.164+4548… NM_001350412.1:c.164+45485A>G	N/A	Intron Variant
RIMS1 transcript variant 9	NM_001350413.1:c.165-3631… NM_001350413.1:c.165-36311A>G	N/A	Intron Variant
RIMS1 transcript variant 1	NM_014989.7:c.165-36311A>G	N/A	Intron Variant
RIMS1 transcript variant 2	NM_001168407.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 3	NM_001168408.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 4	NM_001168409.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 5	NM_001168410.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 6	NM_001168411.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 10	NM_001350414.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 11	NM_001350415.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 12	NM_001350416.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 13	NM_001350417.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 14	NM_001350418.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 15	NM_001350419.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 16	NM_001350420.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 17	NM_001350421.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 18	NM_001350422.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 19	NM_001350423.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 20	NM_001350424.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 21	NM_001350425.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 22	NM_001350426.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 23	NM_001350427.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 24	NM_001350428.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 25	NM_001350429.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 26	NM_001350430.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 27	NM_001350431.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 28	NM_001350432.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 29	NM_001350433.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 30	NM_001350434.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 31	NM_001350435.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 32	NM_001350436.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 33	NM_001350437.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 34	NM_001350438.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 35	NM_001350439.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 36	NM_001350440.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 37	NM_001350441.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 38	NM_001350442.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 39	NM_001350443.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 40	NM_001350444.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 41	NM_001350445.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 42	NM_001350446.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 43	NM_001350447.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 44	NM_001350448.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 45	NM_001350449.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 46	NM_001350450.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 47	NM_001350452.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 48	NM_001350454.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 49	NM_001350455.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 50	NM_001350456.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 51	NM_001350457.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 52	NM_001350458.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 53	NM_001350459.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 54	NM_001350460.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 55	NM_001350461.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 56	NM_001350462.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 57	NM_001350463.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 58	NM_001350464.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 59	NM_001350465.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 60	NM_001350466.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 61	NM_001350467.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 62	NM_001350468.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 63	NM_001350469.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 64	NM_001350470.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 65	NM_001350471.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 66	NM_001350472.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 67	NM_001350473.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant 68	NM_001350474.2:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant X23	XM_011535604.4:c.165-3631… XM_011535604.4:c.165-36311A>G	N/A	Intron Variant
RIMS1 transcript variant X2	XM_017010516.3:c.165-3631… XM_017010516.3:c.165-36311A>G	N/A	Intron Variant
RIMS1 transcript variant X4	XM_017010517.3:c.165-3631… XM_017010517.3:c.165-36311A>G	N/A	Intron Variant
RIMS1 transcript variant X5	XM_017010518.3:c.165-3631… XM_017010518.3:c.165-36311A>G	N/A	Intron Variant
RIMS1 transcript variant X21	XM_017010519.3:c.165-3631… XM_017010519.3:c.165-36311A>G	N/A	Intron Variant
RIMS1 transcript variant X6	XM_017010520.3:c.165-3631… XM_017010520.3:c.165-36311A>G	N/A	Intron Variant
RIMS1 transcript variant X7	XM_017010521.3:c.165-3631… XM_017010521.3:c.165-36311A>G	N/A	Intron Variant
RIMS1 transcript variant X22	XM_017010522.3:c.165-3631… XM_017010522.3:c.165-36311A>G	N/A	Intron Variant
RIMS1 transcript variant X24	XM_017010525.3:c.165-3631… XM_017010525.3:c.165-36311A>G	N/A	Intron Variant
RIMS1 transcript variant X1	XM_024446369.2:c.165-3631… XM_024446369.2:c.165-36311A>G	N/A	Intron Variant
RIMS1 transcript variant X3	XM_047418416.1:c.165-3631… XM_047418416.1:c.165-36311A>G	N/A	Intron Variant
RIMS1 transcript variant X8	XM_047418417.1:c.165-3631… XM_047418417.1:c.165-36311A>G	N/A	Intron Variant
RIMS1 transcript variant X9	XM_047418418.1:c.165-3631… XM_047418418.1:c.165-36311A>G	N/A	Intron Variant
RIMS1 transcript variant X10	XM_047418419.1:c.165-3631… XM_047418419.1:c.165-36311A>G	N/A	Intron Variant
RIMS1 transcript variant X11	XM_047418420.1:c.164+4548… XM_047418420.1:c.164+45485A>G	N/A	Intron Variant
RIMS1 transcript variant X25	XM_047418421.1:c.165-3631… XM_047418421.1:c.165-36311A>G	N/A	Intron Variant
RIMS1 transcript variant X12	XM_047418422.1:c.164+4548… XM_047418422.1:c.164+45485A>G	N/A	Intron Variant
RIMS1 transcript variant X13	XM_047418423.1:c.165-3631… XM_047418423.1:c.165-36311A>G	N/A	Intron Variant
RIMS1 transcript variant X14	XM_047418424.1:c.164+4548… XM_047418424.1:c.164+45485A>G	N/A	Intron Variant
RIMS1 transcript variant X15	XM_047418425.1:c.164+4548… XM_047418425.1:c.164+45485A>G	N/A	Intron Variant
RIMS1 transcript variant X16	XM_047418426.1:c.164+4548… XM_047418426.1:c.164+45485A>G	N/A	Intron Variant
RIMS1 transcript variant X17	XM_017010537.3:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant X19	XM_017010544.3:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant X20	XM_017010546.3:c.	N/A	Genic Upstream Transcript Variant
RIMS1 transcript variant X18	XM_024446372.2:c.	N/A	Genic Upstream 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=	G
GRCh38.p14 chr 6	NC_000006.12:g.71932672=	NC_000006.12:g.71932672A>G
GRCh37.p13 chr 6	NC_000006.11:g.72642375=	NC_000006.11:g.72642375A>G
RIMS1 RefSeqGene	NG_016209.1:g.50726=	NG_016209.1:g.50726A>G
RIMS1 transcript variant 7	NM_001350411.1:c.165-36311=	NM_001350411.1:c.165-36311A>G
RIMS1 transcript variant 8	NM_001350412.1:c.164+45485=	NM_001350412.1:c.164+45485A>G
RIMS1 transcript variant 9	NM_001350413.1:c.165-36311=	NM_001350413.1:c.165-36311A>G
RIMS1 transcript variant 1	NM_014989.5:c.165-36311=	NM_014989.5:c.165-36311A>G
RIMS1 transcript variant 1	NM_014989.7:c.165-36311=	NM_014989.7:c.165-36311A>G
RIMS1 transcript variant X1	XM_005248685.1:c.165-36311=	XM_005248685.1:c.165-36311A>G
RIMS1 transcript variant X2	XM_005248686.1:c.165-36311=	XM_005248686.1:c.165-36311A>G
RIMS1 transcript variant X3	XM_005248687.1:c.165-36311=	XM_005248687.1:c.165-36311A>G
RIMS1 transcript variant X4	XM_005248688.1:c.165-36311=	XM_005248688.1:c.165-36311A>G
RIMS1 transcript variant X5	XM_005248689.1:c.165-36311=	XM_005248689.1:c.165-36311A>G
RIMS1 transcript variant X6	XM_005248690.1:c.165-36311=	XM_005248690.1:c.165-36311A>G
RIMS1 transcript variant X7	XM_005248691.1:c.165-36311=	XM_005248691.1:c.165-36311A>G
RIMS1 transcript variant X8	XM_005248692.1:c.165-36311=	XM_005248692.1:c.165-36311A>G
RIMS1 transcript variant X23	XM_011535604.4:c.165-36311=	XM_011535604.4:c.165-36311A>G
RIMS1 transcript variant X2	XM_017010516.3:c.165-36311=	XM_017010516.3:c.165-36311A>G
RIMS1 transcript variant X4	XM_017010517.3:c.165-36311=	XM_017010517.3:c.165-36311A>G
RIMS1 transcript variant X5	XM_017010518.3:c.165-36311=	XM_017010518.3:c.165-36311A>G
RIMS1 transcript variant X21	XM_017010519.3:c.165-36311=	XM_017010519.3:c.165-36311A>G
RIMS1 transcript variant X6	XM_017010520.3:c.165-36311=	XM_017010520.3:c.165-36311A>G
RIMS1 transcript variant X7	XM_017010521.3:c.165-36311=	XM_017010521.3:c.165-36311A>G
RIMS1 transcript variant X22	XM_017010522.3:c.165-36311=	XM_017010522.3:c.165-36311A>G
RIMS1 transcript variant X24	XM_017010525.3:c.165-36311=	XM_017010525.3:c.165-36311A>G
RIMS1 transcript variant X1	XM_024446369.2:c.165-36311=	XM_024446369.2:c.165-36311A>G
RIMS1 transcript variant X3	XM_047418416.1:c.165-36311=	XM_047418416.1:c.165-36311A>G
RIMS1 transcript variant X8	XM_047418417.1:c.165-36311=	XM_047418417.1:c.165-36311A>G
RIMS1 transcript variant X9	XM_047418418.1:c.165-36311=	XM_047418418.1:c.165-36311A>G
RIMS1 transcript variant X10	XM_047418419.1:c.165-36311=	XM_047418419.1:c.165-36311A>G
RIMS1 transcript variant X11	XM_047418420.1:c.164+45485=	XM_047418420.1:c.164+45485A>G
RIMS1 transcript variant X25	XM_047418421.1:c.165-36311=	XM_047418421.1:c.165-36311A>G
RIMS1 transcript variant X12	XM_047418422.1:c.164+45485=	XM_047418422.1:c.164+45485A>G
RIMS1 transcript variant X13	XM_047418423.1:c.165-36311=	XM_047418423.1:c.165-36311A>G
RIMS1 transcript variant X14	XM_047418424.1:c.164+45485=	XM_047418424.1:c.164+45485A>G
RIMS1 transcript variant X15	XM_047418425.1:c.164+45485=	XM_047418425.1:c.164+45485A>G
RIMS1 transcript variant X16	XM_047418426.1:c.164+45485=	XM_047418426.1:c.164+45485A>G

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#.

75 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss1493518	Oct 05, 2000 (86)
2	TSC-CSHL	ss5513858	Oct 08, 2002 (108)
3	SC_JCM	ss6096528	Feb 20, 2003 (111)
4	WI_SSAHASNP	ss6486587	Feb 20, 2003 (111)
5	SC_SNP	ss12779089	Dec 05, 2003 (119)
6	PERLEGEN	ss24194590	Sep 20, 2004 (123)
7	ABI	ss44729082	Mar 14, 2006 (126)
8	KRIBB_YJKIM	ss104835185	Feb 05, 2009 (130)
9	BGI	ss106010588	Feb 05, 2009 (130)
10	1000GENOMES	ss110324165	Jan 24, 2009 (130)
11	1000GENOMES	ss114550629	Jan 25, 2009 (130)
12	ILLUMINA-UK	ss116539719	Dec 01, 2009 (131)
13	GMI	ss157132050	Dec 01, 2009 (131)
14	ILLUMINA	ss159886881	Dec 01, 2009 (131)
15	COMPLETE_GENOMICS	ss162494325	Jul 04, 2010 (132)
16	COMPLETE_GENOMICS	ss163704173	Jul 04, 2010 (132)
17	COMPLETE_GENOMICS	ss166867842	Jul 04, 2010 (132)
18	BUSHMAN	ss202007250	Jul 04, 2010 (132)
19	BCM-HGSC-SUB	ss207367704	Jul 04, 2010 (132)
20	1000GENOMES	ss222465725	Jul 14, 2010 (132)
21	1000GENOMES	ss233530633	Jul 15, 2010 (132)
22	1000GENOMES	ss240574458	Jul 15, 2010 (132)
23	BL	ss254449178	May 09, 2011 (134)
24	GMI	ss278862513	May 04, 2012 (137)
25	GMI	ss285437022	Apr 25, 2013 (138)
26	ILLUMINA	ss479613430	Sep 08, 2015 (146)
27	TISHKOFF	ss559286287	Apr 25, 2013 (138)
28	SSMP	ss653243089	Apr 25, 2013 (138)
29	EVA-GONL	ss983082372	Aug 21, 2014 (142)
30	JMKIDD_LAB	ss1073723158	Aug 21, 2014 (142)
31	1000GENOMES	ss1320692801	Aug 21, 2014 (142)
32	DDI	ss1430777451	Apr 01, 2015 (144)
33	EVA_GENOME_DK	ss1581733804	Apr 01, 2015 (144)
34	EVA_DECODE	ss1592624844	Apr 01, 2015 (144)
35	EVA_UK10K_ALSPAC	ss1615860350	Apr 01, 2015 (144)
36	EVA_UK10K_TWINSUK	ss1658854383	Apr 01, 2015 (144)
37	EVA_SVP	ss1712872273	Apr 01, 2015 (144)
38	HAMMER_LAB	ss1804498500	Sep 08, 2015 (146)
39	WEILL_CORNELL_DGM	ss1926338793	Feb 12, 2016 (147)
40	GENOMED	ss1970432201	Jul 19, 2016 (147)
41	JJLAB	ss2023811644	Sep 14, 2016 (149)
42	USC_VALOUEV	ss2152003342	Dec 20, 2016 (150)
43	HUMAN_LONGEVITY	ss2285046149	Dec 20, 2016 (150)
44	SYSTEMSBIOZJU	ss2626400278	Nov 08, 2017 (151)
45	GRF	ss2707612257	Nov 08, 2017 (151)
46	GNOMAD	ss2840566420	Nov 08, 2017 (151)
47	SWEGEN	ss2999310257	Nov 08, 2017 (151)
48	BIOINF_KMB_FNS_UNIBA	ss3025699127	Nov 08, 2017 (151)
49	CSHL	ss3347044546	Nov 08, 2017 (151)
50	ILLUMINA	ss3636796564	Oct 12, 2018 (152)
51	EGCUT_WGS	ss3667179710	Jul 13, 2019 (153)
52	EVA_DECODE	ss3717493687	Jul 13, 2019 (153)
53	ACPOP	ss3733633289	Jul 13, 2019 (153)
54	EVA	ss3765188873	Jul 13, 2019 (153)
55	PACBIO	ss3785513971	Jul 13, 2019 (153)
56	PACBIO	ss3790859034	Jul 13, 2019 (153)
57	PACBIO	ss3795738084	Jul 13, 2019 (153)
58	KHV_HUMAN_GENOMES	ss3808337301	Jul 13, 2019 (153)
59	EVA	ss3829998480	Apr 26, 2020 (154)
60	SGDP_PRJ	ss3864877114	Apr 26, 2020 (154)
61	KRGDB	ss3911744023	Apr 26, 2020 (154)
62	KOGIC	ss3959318914	Apr 26, 2020 (154)
63	TOPMED	ss4707915022	Apr 26, 2021 (155)
64	TOMMO_GENOMICS	ss5178137244	Apr 26, 2021 (155)
65	1000G_HIGH_COVERAGE	ss5268952586	Oct 17, 2022 (156)
66	EVA	ss5366505241	Oct 17, 2022 (156)
67	HUGCELL_USP	ss5466546579	Oct 17, 2022 (156)
68	1000G_HIGH_COVERAGE	ss5555143907	Oct 17, 2022 (156)
69	SANFORD_IMAGENETICS	ss5640689959	Oct 17, 2022 (156)
70	TOMMO_GENOMICS	ss5716506855	Oct 17, 2022 (156)
71	YY_MCH	ss5807605560	Oct 17, 2022 (156)
72	EVA	ss5842449537	Oct 17, 2022 (156)
73	EVA	ss5855413780	Oct 17, 2022 (156)
74	EVA	ss5884367193	Oct 17, 2022 (156)
75	EVA	ss5969184674	Oct 17, 2022 (156)
76	1000Genomes	NC_000006.11 - 72642375	Oct 12, 2018 (152)
77	1000Genomes_30x	NC_000006.12 - 71932672	Oct 17, 2022 (156)
78	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 72642375	Oct 12, 2018 (152)
79	Chileans	NC_000006.11 - 72642375	Apr 26, 2020 (154)
80	Genetic variation in the Estonian population	NC_000006.11 - 72642375	Oct 12, 2018 (152)
81	The Danish reference pan genome	NC_000006.11 - 72642375	Apr 26, 2020 (154)
82	gnomAD - Genomes	NC_000006.12 - 71932672	Apr 26, 2021 (155)
83	Genome of the Netherlands Release 5	NC_000006.11 - 72642375	Apr 26, 2020 (154)
84	HapMap	NC_000006.12 - 71932672	Apr 26, 2020 (154)
85	KOREAN population from KRGDB	NC_000006.11 - 72642375	Apr 26, 2020 (154)
86	Korean Genome Project	NC_000006.12 - 71932672	Apr 26, 2020 (154)
87	Northern Sweden	NC_000006.11 - 72642375	Jul 13, 2019 (153)
88	Qatari	NC_000006.11 - 72642375	Apr 26, 2020 (154)
89	SGDP_PRJ	NC_000006.11 - 72642375	Apr 26, 2020 (154)
90	Siberian	NC_000006.11 - 72642375	Apr 26, 2020 (154)
91	8.3KJPN	NC_000006.11 - 72642375	Apr 26, 2021 (155)
92	14KJPN	NC_000006.12 - 71932672	Oct 17, 2022 (156)
93	TopMed	NC_000006.12 - 71932672	Apr 26, 2021 (155)
94	UK 10K study - Twins	NC_000006.11 - 72642375	Oct 12, 2018 (152)
95	A Vietnamese Genetic Variation Database	NC_000006.11 - 72642375	Jul 13, 2019 (153)
96	ALFA	NC_000006.12 - 71932672	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)
rs17718228	Oct 07, 2004 (123)
rs56469980	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss110324165, ss114550629, ss116539719, ss162494325, ss163704173, ss166867842, ss202007250, ss207367704, ss254449178, ss278862513, ss285437022, ss1592624844, ss1712872273	NC_000006.10:72699095:A:G	NC_000006.12:71932671:A:G	(self)
32501395, 18108505, 380925, 12917958, 7898743, 8067672, 18921417, 6918154, 8380723, 16894094, 4519696, 36106551, 18108505, 4022791, ss222465725, ss233530633, ss240574458, ss479613430, ss559286287, ss653243089, ss983082372, ss1073723158, ss1320692801, ss1430777451, ss1581733804, ss1615860350, ss1658854383, ss1804498500, ss1926338793, ss1970432201, ss2023811644, ss2152003342, ss2626400278, ss2707612257, ss2840566420, ss2999310257, ss3347044546, ss3636796564, ss3667179710, ss3733633289, ss3765188873, ss3785513971, ss3790859034, ss3795738084, ss3829998480, ss3864877114, ss3911744023, ss5178137244, ss5366505241, ss5640689959, ss5842449537, ss5969184674	NC_000006.11:72642374:A:G	NC_000006.12:71932671:A:G	(self)
42669842, 229390019, 3161991, 15696915, 50343959, 545292580, 6845771915, ss2285046149, ss3025699127, ss3717493687, ss3808337301, ss3959318914, ss4707915022, ss5268952586, ss5466546579, ss5555143907, ss5716506855, ss5807605560, ss5855413780, ss5884367193	NC_000006.12:71932671:A:G	NC_000006.12:71932671:A:G	(self)
ss1493518, ss5513858, ss6096528, ss6486587, ss12779089, ss24194590, ss44729082, ss104835185, ss106010588, ss157132050, ss159886881	NT_007299.13:10762208:A:G	NC_000006.12:71932671:A:G	(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 rs1028387

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.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1028387