Name: rs3784044
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.

rs3784044

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr14:72519537 (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=0.225441 (59672/264690, TOPMED)
G=0.134774 (27251/202198, ALFA)
G=0.222846 (31206/140034, GnomAD) (+ 18 more)
G=0.15960 (4510/28258, 14KJPN)
G=0.16122 (2702/16760, 8.3KJPN)
G=0.2503 (1603/6404, 1000G_30x)
G=0.2508 (1256/5008, 1000G)
G=0.1310 (587/4480, Estonian)
G=0.1261 (486/3854, ALSPAC)
G=0.1268 (470/3708, TWINSUK)
G=0.1804 (527/2922, KOREAN)
G=0.2001 (417/2084, HGDP_Stanford)
G=0.2876 (539/1874, HapMap)
G=0.132 (132/998, GoNL)
G=0.135 (81/600, NorthernSweden)
A=0.391 (86/220, SGDP_PRJ)
G=0.176 (38/216, Qatari)
G=0.175 (37/212, Vietnamese)
G=0.05 (4/74, Ancient Sardinia)
G=0.12 (5/40, GENOME_DK)
A=0.36 (8/22, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: RGS6 : 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	202198	A=0.865226	G=0.134774
European	Sub	174926	A=0.881453	G=0.118547
African	Sub	7092	A=0.5718	G=0.4282
African Others	Sub	264	A=0.485	G=0.515
African American	Sub	6828	A=0.5751	G=0.4249
Asian	Sub	702	A=0.840	G=0.160
East Asian	Sub	556	A=0.838	G=0.162
Other Asian	Sub	146	A=0.849	G=0.151
Latin American 1	Sub	844	A=0.799	G=0.201
Latin American 2	Sub	6910	A=0.8388	G=0.1612
South Asian	Sub	5038	A=0.7948	G=0.2052
Other	Sub	6686	A=0.8434	G=0.1566

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=0.774559	G=0.225441
Allele Frequency Aggregator	Total	Global	202198	A=0.865226	G=0.134774
Allele Frequency Aggregator	European	Sub	174926	A=0.881453	G=0.118547
Allele Frequency Aggregator	African	Sub	7092	A=0.5718	G=0.4282
Allele Frequency Aggregator	Latin American 2	Sub	6910	A=0.8388	G=0.1612
Allele Frequency Aggregator	Other	Sub	6686	A=0.8434	G=0.1566
Allele Frequency Aggregator	South Asian	Sub	5038	A=0.7948	G=0.2052
Allele Frequency Aggregator	Latin American 1	Sub	844	A=0.799	G=0.201
Allele Frequency Aggregator	Asian	Sub	702	A=0.840	G=0.160
gnomAD - Genomes	Global	Study-wide	140034	A=0.777154	G=0.222846
gnomAD - Genomes	European	Sub	75880	A=0.87074	G=0.12926
gnomAD - Genomes	African	Sub	41902	A=0.57625	G=0.42375
gnomAD - Genomes	American	Sub	13650	A=0.84029	G=0.15971
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	A=0.8859	G=0.1141
gnomAD - Genomes	East Asian	Sub	3130	A=0.8006	G=0.1994
gnomAD - Genomes	Other	Sub	2150	A=0.7865	G=0.2135
14KJPN	JAPANESE	Study-wide	28258	A=0.84040	G=0.15960
8.3KJPN	JAPANESE	Study-wide	16760	A=0.83878	G=0.16122
1000Genomes_30x	Global	Study-wide	6404	A=0.7497	G=0.2503
1000Genomes_30x	African	Sub	1786	A=0.5274	G=0.4726
1000Genomes_30x	Europe	Sub	1266	A=0.9044	G=0.0956
1000Genomes_30x	South Asian	Sub	1202	A=0.7837	G=0.2163
1000Genomes_30x	East Asian	Sub	1170	A=0.8137	G=0.1863
1000Genomes_30x	American	Sub	980	A=0.837	G=0.163
1000Genomes	Global	Study-wide	5008	A=0.7492	G=0.2508
1000Genomes	African	Sub	1322	A=0.5219	G=0.4781
1000Genomes	East Asian	Sub	1008	A=0.8095	G=0.1905
1000Genomes	Europe	Sub	1006	A=0.8956	G=0.1044
1000Genomes	South Asian	Sub	978	A=0.779	G=0.221
1000Genomes	American	Sub	694	A=0.840	G=0.160
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.8690	G=0.1310
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.8739	G=0.1261
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.8732	G=0.1268
KOREAN population from KRGDB	KOREAN	Study-wide	2922	A=0.8196	G=0.1804
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	A=0.7999	G=0.2001
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	A=0.798	G=0.202
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	A=0.853	G=0.147
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	A=0.900	G=0.100
HGDP-CEPH-db Supplement 1	Europe	Sub	320	A=0.853	G=0.147
HGDP-CEPH-db Supplement 1	Africa	Sub	242	A=0.455	G=0.545
HGDP-CEPH-db Supplement 1	America	Sub	216	A=0.866	G=0.134
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	A=0.75	G=0.25
HapMap	Global	Study-wide	1874	A=0.7124	G=0.2876
HapMap	American	Sub	756	A=0.815	G=0.185
HapMap	African	Sub	690	A=0.497	G=0.503
HapMap	Asian	Sub	254	A=0.858	G=0.142
HapMap	Europe	Sub	174	A=0.908	G=0.092
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.868	G=0.132
Northern Sweden	ACPOP	Study-wide	600	A=0.865	G=0.135
SGDP_PRJ	Global	Study-wide	220	A=0.391	G=0.609
Qatari	Global	Study-wide	216	A=0.824	G=0.176
A Vietnamese Genetic Variation Database	Global	Study-wide	212	A=0.825	G=0.175
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	74	A=0.95	G=0.05
The Danish reference pan genome	Danish	Study-wide	40	A=0.88	G=0.12
Siberian	Global	Study-wide	22	A=0.36	G=0.64

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 14	NC_000014.9:g.72519537A>G
GRCh37.p13 chr 14	NC_000014.8:g.72986245A>G
RGS6 RefSeqGene	NG_029236.1:g.592429A>G

Gene: RGS6, regulator of G protein signaling 6 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RGS6 transcript variant 1	NM_001204416.3:c.1278+100… NM_001204416.3:c.1278+1000A>G	N/A	Intron Variant
RGS6 transcript variant 3	NM_001204417.3:c.1278+100… NM_001204417.3:c.1278+1000A>G	N/A	Intron Variant
RGS6 transcript variant 4	NM_001204418.3:c.1278+100… NM_001204418.3:c.1278+1000A>G	N/A	Intron Variant
RGS6 transcript variant 5	NM_001204419.3:c.1167+100… NM_001204419.3:c.1167+1000A>G	N/A	Intron Variant
RGS6 transcript variant 6	NM_001204420.3:c.1167+100… NM_001204420.3:c.1167+1000A>G	N/A	Intron Variant
RGS6 transcript variant 7	NM_001204421.3:c.1167+100… NM_001204421.3:c.1167+1000A>G	N/A	Intron Variant
RGS6 transcript variant 8	NM_001204422.3:c.1167+100… NM_001204422.3:c.1167+1000A>G	N/A	Intron Variant
RGS6 transcript variant 9	NM_001204423.2:c.1173+100… NM_001204423.2:c.1173+1000A>G	N/A	Intron Variant
RGS6 transcript variant 10	NM_001204424.2:c.1278+100… NM_001204424.2:c.1278+1000A>G	N/A	Intron Variant
RGS6 transcript variant 12	NM_001370270.1:c.1278+100… NM_001370270.1:c.1278+1000A>G	N/A	Intron Variant
RGS6 transcript variant 13	NM_001370271.1:c.1278+100… NM_001370271.1:c.1278+1000A>G	N/A	Intron Variant
RGS6 transcript variant 14	NM_001370272.1:c.1278+100… NM_001370272.1:c.1278+1000A>G	N/A	Intron Variant
RGS6 transcript variant 15	NM_001370273.1:c.1278+100… NM_001370273.1:c.1278+1000A>G	N/A	Intron Variant
RGS6 transcript variant 16	NM_001370274.1:c.1278+100… NM_001370274.1:c.1278+1000A>G	N/A	Intron Variant
RGS6 transcript variant 17	NM_001370275.1:c.1278+100… NM_001370275.1:c.1278+1000A>G	N/A	Intron Variant
RGS6 transcript variant 18	NM_001370276.1:c.1278+100… NM_001370276.1:c.1278+1000A>G	N/A	Intron Variant
RGS6 transcript variant 19	NM_001370277.1:c.1278+100… NM_001370277.1:c.1278+1000A>G	N/A	Intron Variant
RGS6 transcript variant 20	NM_001370278.1:c.1278+100… NM_001370278.1:c.1278+1000A>G	N/A	Intron Variant
RGS6 transcript variant 21	NM_001370279.1:c.1269+100… NM_001370279.1:c.1269+1000A>G	N/A	Intron Variant
RGS6 transcript variant 22	NM_001370280.1:c.1152+100… NM_001370280.1:c.1152+1000A>G	N/A	Intron Variant
RGS6 transcript variant 23	NM_001370281.1:c.1278+100… NM_001370281.1:c.1278+1000A>G	N/A	Intron Variant
RGS6 transcript variant 24	NM_001370282.1:c.1278+100… NM_001370282.1:c.1278+1000A>G	N/A	Intron Variant
RGS6 transcript variant 25	NM_001370283.1:c.1167+100… NM_001370283.1:c.1167+1000A>G	N/A	Intron Variant
RGS6 transcript variant 26	NM_001370284.1:c.1278+100… NM_001370284.1:c.1278+1000A>G	N/A	Intron Variant
RGS6 transcript variant 27	NM_001370286.1:c.1068+100… NM_001370286.1:c.1068+1000A>G	N/A	Intron Variant
RGS6 transcript variant 28	NM_001370287.1:c.1278+100… NM_001370287.1:c.1278+1000A>G	N/A	Intron Variant
RGS6 transcript variant 29	NM_001370288.1:c.1278+100… NM_001370288.1:c.1278+1000A>G	N/A	Intron Variant
RGS6 transcript variant 30	NM_001370289.1:c.1278+100… NM_001370289.1:c.1278+1000A>G	N/A	Intron Variant
RGS6 transcript variant 31	NM_001370290.1:c.1278+100… NM_001370290.1:c.1278+1000A>G	N/A	Intron Variant
RGS6 transcript variant 32	NM_001370291.1:c.1278+100… NM_001370291.1:c.1278+1000A>G	N/A	Intron Variant
RGS6 transcript variant 33	NM_001370292.1:c.1167+100… NM_001370292.1:c.1167+1000A>G	N/A	Intron Variant
RGS6 transcript variant 34	NM_001370293.1:c.1167+100… NM_001370293.1:c.1167+1000A>G	N/A	Intron Variant
RGS6 transcript variant 35	NM_001370294.1:c.1041+100… NM_001370294.1:c.1041+1000A>G	N/A	Intron Variant
RGS6 transcript variant 2	NM_004296.7:c.1278+1000A>G	N/A	Intron Variant
RGS6 transcript variant 11	NR_135235.2:n.	N/A	Intron Variant
RGS6 transcript variant X8	XM_011537397.2:c.861+1000… XM_011537397.2:c.861+1000A>G	N/A	Intron Variant
RGS6 transcript variant X4	XM_017021820.3:c.1167+100… XM_017021820.3:c.1167+1000A>G	N/A	Intron Variant
RGS6 transcript variant X9	XM_017021822.3:c.1278+100… XM_017021822.3:c.1278+1000A>G	N/A	Intron Variant
RGS6 transcript variant X11	XM_017021825.3:c.1278+100… XM_017021825.3:c.1278+1000A>G	N/A	Intron Variant
RGS6 transcript variant X12	XM_017021826.3:c.1278+100… XM_017021826.3:c.1278+1000A>G	N/A	Intron Variant
RGS6 transcript variant X13	XM_017021827.3:c.1278+100… XM_017021827.3:c.1278+1000A>G	N/A	Intron Variant
RGS6 transcript variant X15	XM_017021828.3:c.1278+100… XM_017021828.3:c.1278+1000A>G	N/A	Intron Variant
RGS6 transcript variant X16	XM_017021830.3:c.1278+100… XM_017021830.3:c.1278+1000A>G	N/A	Intron Variant
RGS6 transcript variant X17	XM_017021831.3:c.1278+100… XM_017021831.3:c.1278+1000A>G	N/A	Intron Variant
RGS6 transcript variant X18	XM_017021832.3:c.1278+100… XM_017021832.3:c.1278+1000A>G	N/A	Intron Variant
RGS6 transcript variant X1	XM_024449759.2:c.1278+100… XM_024449759.2:c.1278+1000A>G	N/A	Intron Variant
RGS6 transcript variant X3	XM_024449760.2:c.1278+100… XM_024449760.2:c.1278+1000A>G	N/A	Intron Variant
RGS6 transcript variant X2	XM_024449761.2:c.1278+100… XM_024449761.2:c.1278+1000A>G	N/A	Intron Variant
RGS6 transcript variant X6	XM_024449763.2:c.1071+100… XM_024449763.2:c.1071+1000A>G	N/A	Intron Variant
RGS6 transcript variant X7	XM_024449764.2:c.1071+100… XM_024449764.2:c.1071+1000A>G	N/A	Intron Variant
RGS6 transcript variant X19	XM_024449776.2:c.1167+100… XM_024449776.2:c.1167+1000A>G	N/A	Intron Variant
RGS6 transcript variant X5	XM_047431985.1:c.1098+100… XM_047431985.1:c.1098+1000A>G	N/A	Intron Variant
RGS6 transcript variant X10	XM_047431987.1:c.1278+100… XM_047431987.1:c.1278+1000A>G	N/A	Intron Variant
RGS6 transcript variant X14	XM_047431988.1:c.636+1000… XM_047431988.1:c.636+1000A>G	N/A	Intron Variant
RGS6 transcript variant X20	XM_047431990.1:c.1167+100… XM_047431990.1:c.1167+1000A>G	N/A	Intron Variant
RGS6 transcript variant X21	XM_017021833.3:c.	N/A	Genic Downstream Transcript Variant

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

Not Reported in ClinVar

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

Placement	A=	G
GRCh38.p14 chr 14	NC_000014.9:g.72519537=	NC_000014.9:g.72519537A>G
GRCh37.p13 chr 14	NC_000014.8:g.72986245=	NC_000014.8:g.72986245A>G
RGS6 RefSeqGene	NG_029236.1:g.592429=	NG_029236.1:g.592429A>G
RGS6 transcript variant 1	NM_001204416.1:c.1278+1000=	NM_001204416.1:c.1278+1000A>G
RGS6 transcript variant 1	NM_001204416.3:c.1278+1000=	NM_001204416.3:c.1278+1000A>G
RGS6 transcript variant 3	NM_001204417.1:c.1278+1000=	NM_001204417.1:c.1278+1000A>G
RGS6 transcript variant 3	NM_001204417.3:c.1278+1000=	NM_001204417.3:c.1278+1000A>G
RGS6 transcript variant 4	NM_001204418.1:c.1278+1000=	NM_001204418.1:c.1278+1000A>G
RGS6 transcript variant 4	NM_001204418.3:c.1278+1000=	NM_001204418.3:c.1278+1000A>G
RGS6 transcript variant 5	NM_001204419.1:c.1167+1000=	NM_001204419.1:c.1167+1000A>G
RGS6 transcript variant 5	NM_001204419.3:c.1167+1000=	NM_001204419.3:c.1167+1000A>G
RGS6 transcript variant 6	NM_001204420.1:c.1167+1000=	NM_001204420.1:c.1167+1000A>G
RGS6 transcript variant 6	NM_001204420.3:c.1167+1000=	NM_001204420.3:c.1167+1000A>G
RGS6 transcript variant 7	NM_001204421.1:c.1167+1000=	NM_001204421.1:c.1167+1000A>G
RGS6 transcript variant 7	NM_001204421.3:c.1167+1000=	NM_001204421.3:c.1167+1000A>G
RGS6 transcript variant 8	NM_001204422.1:c.1167+1000=	NM_001204422.1:c.1167+1000A>G
RGS6 transcript variant 8	NM_001204422.3:c.1167+1000=	NM_001204422.3:c.1167+1000A>G
RGS6 transcript variant 9	NM_001204423.1:c.1173+1000=	NM_001204423.1:c.1173+1000A>G
RGS6 transcript variant 9	NM_001204423.2:c.1173+1000=	NM_001204423.2:c.1173+1000A>G
RGS6 transcript variant 10	NM_001204424.1:c.1278+1000=	NM_001204424.1:c.1278+1000A>G
RGS6 transcript variant 10	NM_001204424.2:c.1278+1000=	NM_001204424.2:c.1278+1000A>G
RGS6 transcript variant 12	NM_001370270.1:c.1278+1000=	NM_001370270.1:c.1278+1000A>G
RGS6 transcript variant 13	NM_001370271.1:c.1278+1000=	NM_001370271.1:c.1278+1000A>G
RGS6 transcript variant 14	NM_001370272.1:c.1278+1000=	NM_001370272.1:c.1278+1000A>G
RGS6 transcript variant 15	NM_001370273.1:c.1278+1000=	NM_001370273.1:c.1278+1000A>G
RGS6 transcript variant 16	NM_001370274.1:c.1278+1000=	NM_001370274.1:c.1278+1000A>G
RGS6 transcript variant 17	NM_001370275.1:c.1278+1000=	NM_001370275.1:c.1278+1000A>G
RGS6 transcript variant 18	NM_001370276.1:c.1278+1000=	NM_001370276.1:c.1278+1000A>G
RGS6 transcript variant 19	NM_001370277.1:c.1278+1000=	NM_001370277.1:c.1278+1000A>G
RGS6 transcript variant 20	NM_001370278.1:c.1278+1000=	NM_001370278.1:c.1278+1000A>G
RGS6 transcript variant 21	NM_001370279.1:c.1269+1000=	NM_001370279.1:c.1269+1000A>G
RGS6 transcript variant 22	NM_001370280.1:c.1152+1000=	NM_001370280.1:c.1152+1000A>G
RGS6 transcript variant 23	NM_001370281.1:c.1278+1000=	NM_001370281.1:c.1278+1000A>G
RGS6 transcript variant 24	NM_001370282.1:c.1278+1000=	NM_001370282.1:c.1278+1000A>G
RGS6 transcript variant 25	NM_001370283.1:c.1167+1000=	NM_001370283.1:c.1167+1000A>G
RGS6 transcript variant 26	NM_001370284.1:c.1278+1000=	NM_001370284.1:c.1278+1000A>G
RGS6 transcript variant 27	NM_001370286.1:c.1068+1000=	NM_001370286.1:c.1068+1000A>G
RGS6 transcript variant 28	NM_001370287.1:c.1278+1000=	NM_001370287.1:c.1278+1000A>G
RGS6 transcript variant 29	NM_001370288.1:c.1278+1000=	NM_001370288.1:c.1278+1000A>G
RGS6 transcript variant 30	NM_001370289.1:c.1278+1000=	NM_001370289.1:c.1278+1000A>G
RGS6 transcript variant 31	NM_001370290.1:c.1278+1000=	NM_001370290.1:c.1278+1000A>G
RGS6 transcript variant 32	NM_001370291.1:c.1278+1000=	NM_001370291.1:c.1278+1000A>G
RGS6 transcript variant 33	NM_001370292.1:c.1167+1000=	NM_001370292.1:c.1167+1000A>G
RGS6 transcript variant 34	NM_001370293.1:c.1167+1000=	NM_001370293.1:c.1167+1000A>G
RGS6 transcript variant 35	NM_001370294.1:c.1041+1000=	NM_001370294.1:c.1041+1000A>G
RGS6 transcript variant 2	NM_004296.5:c.1278+1000=	NM_004296.5:c.1278+1000A>G
RGS6 transcript variant 2	NM_004296.7:c.1278+1000=	NM_004296.7:c.1278+1000A>G
RGS6 transcript variant X1	XM_005268231.1:c.1278+1000=	XM_005268231.1:c.1278+1000A>G
RGS6 transcript variant X2	XM_005268232.1:c.1071+1000=	XM_005268232.1:c.1071+1000A>G
RGS6 transcript variant X3	XM_005268233.1:c.1278+1000=	XM_005268233.1:c.1278+1000A>G
RGS6 transcript variant X4	XM_005268234.1:c.1278+1000=	XM_005268234.1:c.1278+1000A>G
RGS6 transcript variant X5	XM_005268235.1:c.1278+1000=	XM_005268235.1:c.1278+1000A>G
RGS6 transcript variant X21	XM_005268236.1:c.1278+1000=	XM_005268236.1:c.1278+1000A>G
RGS6 transcript variant X8	XM_011537397.2:c.861+1000=	XM_011537397.2:c.861+1000A>G
RGS6 transcript variant X4	XM_017021820.3:c.1167+1000=	XM_017021820.3:c.1167+1000A>G
RGS6 transcript variant X9	XM_017021822.3:c.1278+1000=	XM_017021822.3:c.1278+1000A>G
RGS6 transcript variant X11	XM_017021825.3:c.1278+1000=	XM_017021825.3:c.1278+1000A>G
RGS6 transcript variant X12	XM_017021826.3:c.1278+1000=	XM_017021826.3:c.1278+1000A>G
RGS6 transcript variant X13	XM_017021827.3:c.1278+1000=	XM_017021827.3:c.1278+1000A>G
RGS6 transcript variant X15	XM_017021828.3:c.1278+1000=	XM_017021828.3:c.1278+1000A>G
RGS6 transcript variant X16	XM_017021830.3:c.1278+1000=	XM_017021830.3:c.1278+1000A>G
RGS6 transcript variant X17	XM_017021831.3:c.1278+1000=	XM_017021831.3:c.1278+1000A>G
RGS6 transcript variant X18	XM_017021832.3:c.1278+1000=	XM_017021832.3:c.1278+1000A>G
RGS6 transcript variant X1	XM_024449759.2:c.1278+1000=	XM_024449759.2:c.1278+1000A>G
RGS6 transcript variant X3	XM_024449760.2:c.1278+1000=	XM_024449760.2:c.1278+1000A>G
RGS6 transcript variant X2	XM_024449761.2:c.1278+1000=	XM_024449761.2:c.1278+1000A>G
RGS6 transcript variant X6	XM_024449763.2:c.1071+1000=	XM_024449763.2:c.1071+1000A>G
RGS6 transcript variant X7	XM_024449764.2:c.1071+1000=	XM_024449764.2:c.1071+1000A>G
RGS6 transcript variant X19	XM_024449776.2:c.1167+1000=	XM_024449776.2:c.1167+1000A>G
RGS6 transcript variant X5	XM_047431985.1:c.1098+1000=	XM_047431985.1:c.1098+1000A>G
RGS6 transcript variant X10	XM_047431987.1:c.1278+1000=	XM_047431987.1:c.1278+1000A>G
RGS6 transcript variant X14	XM_047431988.1:c.636+1000=	XM_047431988.1:c.636+1000A>G
RGS6 transcript variant X20	XM_047431990.1:c.1167+1000=	XM_047431990.1:c.1167+1000A>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#.

102 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	YUSUKE	ss4970399	Aug 28, 2002 (107)
2	WI_SSAHASNP	ss14378262	Dec 05, 2003 (119)
3	PERLEGEN	ss23653526	Sep 20, 2004 (123)
4	ILLUMINA	ss67302784	Nov 30, 2006 (127)
5	ILLUMINA	ss67707710	Nov 30, 2006 (127)
6	ILLUMINA	ss68221574	Dec 12, 2006 (127)
7	ILLUMINA	ss70781435	May 26, 2008 (130)
8	ILLUMINA	ss71357899	May 17, 2007 (127)
9	ILLUMINA	ss75869827	Dec 06, 2007 (129)
10	HGSV	ss82933633	Dec 15, 2007 (130)
11	KRIBB_YJKIM	ss84182723	Dec 15, 2007 (130)
12	1000GENOMES	ss113516011	Jan 25, 2009 (130)
13	ILLUMINA-UK	ss118574057	Feb 14, 2009 (130)
14	ILLUMINA	ss154268900	Dec 01, 2009 (131)
15	ILLUMINA	ss159445675	Dec 01, 2009 (131)
16	ILLUMINA	ss160641357	Dec 01, 2009 (131)
17	ENSEMBL	ss161672692	Dec 01, 2009 (131)
18	COMPLETE_GENOMICS	ss168284067	Jul 04, 2010 (132)
19	COMPLETE_GENOMICS	ss169905509	Jul 04, 2010 (132)
20	ILLUMINA	ss173637890	Jul 04, 2010 (132)
21	BUSHMAN	ss200249476	Jul 04, 2010 (132)
22	1000GENOMES	ss226643997	Jul 14, 2010 (132)
23	1000GENOMES	ss236598458	Jul 15, 2010 (132)
24	1000GENOMES	ss243020671	Jul 15, 2010 (132)
25	GMI	ss282058755	May 04, 2012 (137)
26	PJP	ss291627223	May 09, 2011 (134)
27	ILLUMINA	ss480832109	May 04, 2012 (137)
28	ILLUMINA	ss480848185	May 04, 2012 (137)
29	ILLUMINA	ss481780141	Sep 08, 2015 (146)
30	ILLUMINA	ss485210866	May 04, 2012 (137)
31	ILLUMINA	ss537193867	Sep 08, 2015 (146)
32	TISHKOFF	ss564179563	Apr 25, 2013 (138)
33	SSMP	ss659869584	Apr 25, 2013 (138)
34	ILLUMINA	ss778896290	Sep 08, 2015 (146)
35	ILLUMINA	ss783051413	Sep 08, 2015 (146)
36	ILLUMINA	ss784009961	Sep 08, 2015 (146)
37	ILLUMINA	ss832309266	Sep 08, 2015 (146)
38	ILLUMINA	ss832957237	Jul 13, 2019 (153)
39	ILLUMINA	ss834357485	Sep 08, 2015 (146)
40	EVA-GONL	ss991300459	Aug 21, 2014 (142)
41	JMKIDD_LAB	ss1079768958	Aug 21, 2014 (142)
42	1000GENOMES	ss1351583159	Aug 21, 2014 (142)
43	EVA_GENOME_DK	ss1577344025	Apr 01, 2015 (144)
44	EVA_UK10K_ALSPAC	ss1632048938	Apr 01, 2015 (144)
45	EVA_UK10K_TWINSUK	ss1675042971	Apr 01, 2015 (144)
46	EVA_DECODE	ss1695304420	Apr 01, 2015 (144)
47	EVA_SVP	ss1713455628	Apr 01, 2015 (144)
48	ILLUMINA	ss1752141121	Sep 08, 2015 (146)
49	HAMMER_LAB	ss1807982948	Sep 08, 2015 (146)
50	WEILL_CORNELL_DGM	ss1934670961	Feb 12, 2016 (147)
51	GENOMED	ss1967995570	Jul 19, 2016 (147)
52	JJLAB	ss2028117576	Sep 14, 2016 (149)
53	USC_VALOUEV	ss2156492649	Dec 20, 2016 (150)
54	HUMAN_LONGEVITY	ss2203184384	Dec 20, 2016 (150)
55	ILLUMINA	ss2633169562	Nov 08, 2017 (151)
56	GRF	ss2700924684	Nov 08, 2017 (151)
57	GNOMAD	ss2929345781	Nov 08, 2017 (151)
58	SWEGEN	ss3012437675	Nov 08, 2017 (151)
59	BIOINF_KMB_FNS_UNIBA	ss3027883291	Nov 08, 2017 (151)
60	CSHL	ss3350874126	Nov 08, 2017 (151)
61	ILLUMINA	ss3627252764	Oct 12, 2018 (152)
62	ILLUMINA	ss3631166662	Oct 12, 2018 (152)
63	ILLUMINA	ss3633081172	Oct 12, 2018 (152)
64	ILLUMINA	ss3633784809	Oct 12, 2018 (152)
65	ILLUMINA	ss3634583539	Oct 12, 2018 (152)
66	ILLUMINA	ss3635474190	Oct 12, 2018 (152)
67	ILLUMINA	ss3636273080	Oct 12, 2018 (152)
68	ILLUMINA	ss3637225365	Oct 12, 2018 (152)
69	ILLUMINA	ss3638058866	Oct 12, 2018 (152)
70	ILLUMINA	ss3639042916	Oct 12, 2018 (152)
71	ILLUMINA	ss3639830848	Oct 12, 2018 (152)
72	ILLUMINA	ss3640290866	Oct 12, 2018 (152)
73	ILLUMINA	ss3643045044	Oct 12, 2018 (152)
74	ILLUMINA	ss3643881313	Oct 12, 2018 (152)
75	EGCUT_WGS	ss3679694872	Jul 13, 2019 (153)
76	EVA_DECODE	ss3696964892	Jul 13, 2019 (153)
77	ACPOP	ss3740510482	Jul 13, 2019 (153)
78	ILLUMINA	ss3744884157	Jul 13, 2019 (153)
79	EVA	ss3752501092	Jul 13, 2019 (153)
80	ILLUMINA	ss3772382944	Jul 13, 2019 (153)
81	KHV_HUMAN_GENOMES	ss3817828296	Jul 13, 2019 (153)
82	EVA	ss3833993980	Apr 27, 2020 (154)
83	HGDP	ss3847508226	Apr 27, 2020 (154)
84	SGDP_PRJ	ss3881809093	Apr 27, 2020 (154)
85	KRGDB	ss3930857819	Apr 27, 2020 (154)
86	EVA	ss3985688573	Apr 27, 2021 (155)
87	EVA	ss4017677906	Apr 27, 2021 (155)
88	TOPMED	ss4975683557	Apr 27, 2021 (155)
89	TOMMO_GENOMICS	ss5213885196	Apr 27, 2021 (155)
90	1000G_HIGH_COVERAGE	ss5296730078	Oct 17, 2022 (156)
91	EVA	ss5315747959	Oct 17, 2022 (156)
92	EVA	ss5416182307	Oct 17, 2022 (156)
93	HUGCELL_USP	ss5490724261	Oct 17, 2022 (156)
94	1000G_HIGH_COVERAGE	ss5597265939	Oct 17, 2022 (156)
95	SANFORD_IMAGENETICS	ss5656507958	Oct 17, 2022 (156)
96	TOMMO_GENOMICS	ss5766876716	Oct 17, 2022 (156)
97	EVA	ss5799923972	Oct 17, 2022 (156)
98	YY_MCH	ss5814876769	Oct 17, 2022 (156)
99	EVA	ss5841309907	Oct 17, 2022 (156)
100	EVA	ss5851095666	Oct 17, 2022 (156)
101	EVA	ss5901924954	Oct 17, 2022 (156)
102	EVA	ss5947954804	Oct 17, 2022 (156)
103	1000Genomes	NC_000014.8 - 72986245	Oct 12, 2018 (152)
104	1000Genomes_30x	NC_000014.9 - 72519537	Oct 17, 2022 (156)
105	The Avon Longitudinal Study of Parents and Children	NC_000014.8 - 72986245	Oct 12, 2018 (152)
106	Genetic variation in the Estonian population	NC_000014.8 - 72986245	Oct 12, 2018 (152)
107	The Danish reference pan genome	NC_000014.8 - 72986245	Apr 27, 2020 (154)
108	gnomAD - Genomes	NC_000014.9 - 72519537	Apr 27, 2021 (155)
109	Genome of the Netherlands Release 5	NC_000014.8 - 72986245	Apr 27, 2020 (154)
110	HGDP-CEPH-db Supplement 1	NC_000014.7 - 72055998	Apr 27, 2020 (154)
111	HapMap	NC_000014.9 - 72519537	Apr 27, 2020 (154)
112	KOREAN population from KRGDB	NC_000014.8 - 72986245	Apr 27, 2020 (154)
113	Northern Sweden	NC_000014.8 - 72986245	Jul 13, 2019 (153)
114	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000014.8 - 72986245	Apr 27, 2021 (155)
115	Qatari	NC_000014.8 - 72986245	Apr 27, 2020 (154)
116	SGDP_PRJ	NC_000014.8 - 72986245	Apr 27, 2020 (154)
117	Siberian	NC_000014.8 - 72986245	Apr 27, 2020 (154)
118	8.3KJPN	NC_000014.8 - 72986245	Apr 27, 2021 (155)
119	14KJPN	NC_000014.9 - 72519537	Oct 17, 2022 (156)
120	TopMed	NC_000014.9 - 72519537	Apr 27, 2021 (155)
121	UK 10K study - Twins	NC_000014.8 - 72986245	Oct 12, 2018 (152)
122	A Vietnamese Genetic Variation Database	NC_000014.8 - 72986245	Jul 13, 2019 (153)
123	ALFA	NC_000014.9 - 72519537	Apr 27, 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)
rs60914992	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
186118, ss82933633, ss113516011, ss118574057, ss168284067, ss169905509, ss200249476, ss282058755, ss291627223, ss480832109, ss1695304420, ss1713455628, ss3639042916, ss3639830848, ss3643045044, ss3643881313, ss3847508226	NC_000014.7:72055997:A:G	NC_000014.9:72519536:A:G	(self)
64585778, 35888941, 25433120, 3663654, 16027557, 38035213, 13795347, 914500, 16712891, 33826073, 9009003, 71854503, 35888941, 7983092, ss226643997, ss236598458, ss243020671, ss480848185, ss481780141, ss485210866, ss537193867, ss564179563, ss659869584, ss778896290, ss783051413, ss784009961, ss832309266, ss832957237, ss834357485, ss991300459, ss1079768958, ss1351583159, ss1577344025, ss1632048938, ss1675042971, ss1752141121, ss1807982948, ss1934670961, ss1967995570, ss2028117576, ss2156492649, ss2633169562, ss2700924684, ss2929345781, ss3012437675, ss3350874126, ss3627252764, ss3631166662, ss3633081172, ss3633784809, ss3634583539, ss3635474190, ss3636273080, ss3637225365, ss3638058866, ss3640290866, ss3679694872, ss3740510482, ss3744884157, ss3752501092, ss3772382944, ss3833993980, ss3881809093, ss3930857819, ss3985688573, ss4017677906, ss5213885196, ss5315747959, ss5416182307, ss5656507958, ss5799923972, ss5841309907, ss5947954804	NC_000014.8:72986244:A:G	NC_000014.9:72519536:A:G	(self)
84791874, 455374875, 1173652, 100713820, 191229216, 14169631889, ss2203184384, ss3027883291, ss3696964892, ss3817828296, ss4975683557, ss5296730078, ss5490724261, ss5597265939, ss5766876716, ss5814876769, ss5851095666, ss5901924954	NC_000014.9:72519536:A:G	NC_000014.9:72519536:A:G	(self)
ss14378262	NT_026437.10:52906285:A:G	NC_000014.9:72519536:A:G	(self)
ss4970399, ss23653526, ss67302784, ss67707710, ss68221574, ss70781435, ss71357899, ss75869827, ss84182723, ss154268900, ss159445675, ss160641357, ss161672692, ss173637890	NT_026437.12:53986244:A:G	NC_000014.9:72519536: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 rs3784044

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

rs3784044