Name: rs1671019
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.

rs1671019

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:75573846 (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: G>A / G>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.447565 (118466/264690, TOPMED)
T=0.371953 (63014/169414, ALFA)
T=0.44591 (34649/77704, PAGE_STUDY) (+ 18 more)
T=0.4068 (2605/6404, 1000G_30x)
T=0.3982 (1994/5008, 1000G)
T=0.3679 (1648/4480, Estonian)
T=0.3723 (1435/3854, ALSPAC)
T=0.3735 (1385/3708, TWINSUK)
T=0.1345 (394/2930, KOREAN)
T=0.3242 (675/2082, HGDP_Stanford)
T=0.4762 (900/1890, HapMap)
T=0.1392 (255/1832, Korea1K)
T=0.173 (137/792, PRJEB37584)
T=0.385 (231/600, NorthernSweden)
T=0.118 (63/534, MGP)
G=0.354 (92/260, SGDP_PRJ)
T=0.431 (93/216, Qatari)
T=0.285 (61/214, Vietnamese)
T=0.27 (26/98, Ancient Sardinia)
T=0.42 (17/40, GENOME_DK)
G=0.36 (10/28, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: LLGL2 : 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	169508	G=0.628035	A=0.000000, T=0.371965
European	Sub	152206	G=0.633858	A=0.000000, T=0.366142
African	Sub	6290	G=0.3653	A=0.0000, T=0.6347
African Others	Sub	194	G=0.232	A=0.000, T=0.768
African American	Sub	6096	G=0.3696	A=0.0000, T=0.6304
Asian	Sub	486	G=0.805	A=0.000, T=0.195
East Asian	Sub	432	G=0.812	A=0.000, T=0.188
Other Asian	Sub	54	G=0.74	A=0.00, T=0.26
Latin American 1	Sub	518	G=0.587	A=0.000, T=0.413
Latin American 2	Sub	4610	G=0.7685	A=0.0000, T=0.2315
South Asian	Sub	136	G=0.949	A=0.000, T=0.051
Other	Sub	5262	G=0.6300	A=0.0000, T=0.3700

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	G=0.552435	T=0.447565
Allele Frequency Aggregator	Total	Global	169414	G=0.628047	A=0.000000, T=0.371953
Allele Frequency Aggregator	European	Sub	152130	G=0.633885	A=0.000000, T=0.366115
Allele Frequency Aggregator	African	Sub	6290	G=0.3653	A=0.0000, T=0.6347
Allele Frequency Aggregator	Other	Sub	5244	G=0.6297	A=0.0000, T=0.3703
Allele Frequency Aggregator	Latin American 2	Sub	4610	G=0.7685	A=0.0000, T=0.2315
Allele Frequency Aggregator	Latin American 1	Sub	518	G=0.587	A=0.000, T=0.413
Allele Frequency Aggregator	Asian	Sub	486	G=0.805	A=0.000, T=0.195
Allele Frequency Aggregator	South Asian	Sub	136	G=0.949	A=0.000, T=0.051
The PAGE Study	Global	Study-wide	77704	G=0.55409	T=0.44591
The PAGE Study	AfricanAmerican	Sub	31958	G=0.34567	T=0.65433
The PAGE Study	Mexican	Sub	10710	G=0.73641	T=0.26359
The PAGE Study	Asian	Sub	8240	G=0.8438	T=0.1562
The PAGE Study	PuertoRican	Sub	7848	G=0.6021	T=0.3979
The PAGE Study	NativeHawaiian	Sub	4476	G=0.8012	T=0.1988
The PAGE Study	Cuban	Sub	4186	G=0.5831	T=0.4169
The PAGE Study	Dominican	Sub	3802	G=0.5003	T=0.4997
The PAGE Study	CentralAmerican	Sub	2432	G=0.6871	T=0.3129
The PAGE Study	SouthAmerican	Sub	1964	G=0.7215	T=0.2785
The PAGE Study	NativeAmerican	Sub	1242	G=0.6135	T=0.3865
The PAGE Study	SouthAsian	Sub	846	G=0.785	T=0.215
1000Genomes_30x	Global	Study-wide	6404	G=0.5932	T=0.4068
1000Genomes_30x	African	Sub	1786	G=0.2856	T=0.7144
1000Genomes_30x	Europe	Sub	1266	G=0.6303	T=0.3697
1000Genomes_30x	South Asian	Sub	1202	G=0.7995	T=0.2005
1000Genomes_30x	East Asian	Sub	1170	G=0.7282	T=0.2718
1000Genomes_30x	American	Sub	980	G=0.692	T=0.308
1000Genomes	Global	Study-wide	5008	G=0.6018	T=0.3982
1000Genomes	African	Sub	1322	G=0.2867	T=0.7133
1000Genomes	East Asian	Sub	1008	G=0.7351	T=0.2649
1000Genomes	Europe	Sub	1006	G=0.6292	T=0.3708
1000Genomes	South Asian	Sub	978	G=0.799	T=0.201
1000Genomes	American	Sub	694	G=0.692	T=0.308
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.6321	T=0.3679
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.6277	T=0.3723
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.6265	T=0.3735
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.8638	A=0.0017, T=0.1345
HGDP-CEPH-db Supplement 1	Global	Study-wide	2082	G=0.6758	T=0.3242
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	G=0.811	T=0.189
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	G=0.727	T=0.273
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	G=0.594	T=0.406
HGDP-CEPH-db Supplement 1	Europe	Sub	320	G=0.647	T=0.353
HGDP-CEPH-db Supplement 1	Africa	Sub	242	G=0.240	T=0.760
HGDP-CEPH-db Supplement 1	America	Sub	216	G=0.856	T=0.144
HGDP-CEPH-db Supplement 1	Oceania	Sub	70	G=0.96	T=0.04
HapMap	Global	Study-wide	1890	G=0.5238	T=0.4762
HapMap	American	Sub	770	G=0.671	T=0.329
HapMap	African	Sub	692	G=0.228	T=0.772
HapMap	Asian	Sub	252	G=0.841	T=0.159
HapMap	Europe	Sub	176	G=0.585	T=0.415
Korean Genome Project	KOREAN	Study-wide	1832	G=0.8608	T=0.1392
CNV burdens in cranial meningiomas	Global	Study-wide	792	G=0.827	T=0.173
CNV burdens in cranial meningiomas	CRM	Sub	792	G=0.827	T=0.173
Northern Sweden	ACPOP	Study-wide	600	G=0.615	T=0.385
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	G=0.882	T=0.118
SGDP_PRJ	Global	Study-wide	260	G=0.354	A=0.004, T=0.642
Qatari	Global	Study-wide	216	G=0.569	T=0.431
A Vietnamese Genetic Variation Database	Global	Study-wide	214	G=0.715	T=0.285
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	98	G=0.73	T=0.27
The Danish reference pan genome	Danish	Study-wide	40	G=0.57	T=0.42
Siberian	Global	Study-wide	28	G=0.36	T=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 17	NC_000017.11:g.75573846G>A
GRCh38.p14 chr 17	NC_000017.11:g.75573846G>T
GRCh37.p13 chr 17	NC_000017.10:g.73569927G>A
GRCh37.p13 chr 17	NC_000017.10:g.73569927G>T

Gene: LLGL2, LLGL scribble cell polarity complex component 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LLGL2 transcript variant 3	NM_001031803.2:c.2877-106… NM_001031803.2:c.2877-106G>A	N/A	Intron Variant
LLGL2 transcript variant 1	NM_004524.3:c.2877-106G>A	N/A	Intron Variant
LLGL2 transcript variant 2	NM_001015002.2:c.	N/A	Genic Downstream Transcript Variant
LLGL2 transcript variant X4	XM_011524802.2:c.2889-106… XM_011524802.2:c.2889-106G>A	N/A	Intron Variant
LLGL2 transcript variant X11	XM_017024626.2:c.2877-106… XM_017024626.2:c.2877-106G>A	N/A	Intron Variant
LLGL2 transcript variant X22	XM_024450747.2:c.2877-106… XM_024450747.2:c.2877-106G>A	N/A	Intron Variant
LLGL2 transcript variant X1	XM_047435973.1:c.2889-106… XM_047435973.1:c.2889-106G>A	N/A	Intron Variant
LLGL2 transcript variant X2	XM_047435974.1:c.2889-106… XM_047435974.1:c.2889-106G>A	N/A	Intron Variant
LLGL2 transcript variant X3	XM_047435975.1:c.2889-106… XM_047435975.1:c.2889-106G>A	N/A	Intron Variant
LLGL2 transcript variant X5	XM_047435976.1:c.2889-106… XM_047435976.1:c.2889-106G>A	N/A	Intron Variant
LLGL2 transcript variant X6	XM_047435977.1:c.2889-106… XM_047435977.1:c.2889-106G>A	N/A	Intron Variant
LLGL2 transcript variant X7	XM_047435978.1:c.2889-106… XM_047435978.1:c.2889-106G>A	N/A	Intron Variant
LLGL2 transcript variant X8	XM_047435979.1:c.2889-106… XM_047435979.1:c.2889-106G>A	N/A	Intron Variant
LLGL2 transcript variant X9	XM_047435980.1:c.2889-106… XM_047435980.1:c.2889-106G>A	N/A	Intron Variant
LLGL2 transcript variant X10	XM_047435981.1:c.2877-106… XM_047435981.1:c.2877-106G>A	N/A	Intron Variant
LLGL2 transcript variant X12	XM_047435982.1:c.2877-106… XM_047435982.1:c.2877-106G>A	N/A	Intron Variant
LLGL2 transcript variant X13	XM_047435983.1:c.2877-106… XM_047435983.1:c.2877-106G>A	N/A	Intron Variant
LLGL2 transcript variant X14	XM_047435984.1:c.2877-106… XM_047435984.1:c.2877-106G>A	N/A	Intron Variant
LLGL2 transcript variant X15	XM_047435985.1:c.2877-106… XM_047435985.1:c.2877-106G>A	N/A	Intron Variant
LLGL2 transcript variant X16	XM_047435986.1:c.2877-106… XM_047435986.1:c.2877-106G>A	N/A	Intron Variant
LLGL2 transcript variant X17	XM_047435987.1:c.2877-106… XM_047435987.1:c.2877-106G>A	N/A	Intron Variant
LLGL2 transcript variant X18	XM_047435988.1:c.2889-106… XM_047435988.1:c.2889-106G>A	N/A	Intron Variant
LLGL2 transcript variant X19	XM_047435989.1:c.2889-106… XM_047435989.1:c.2889-106G>A	N/A	Intron Variant
LLGL2 transcript variant X20	XM_047435990.1:c.2877-106… XM_047435990.1:c.2877-106G>A	N/A	Intron Variant
LLGL2 transcript variant X21	XM_047435991.1:c.2877-106… XM_047435991.1:c.2877-106G>A	N/A	Intron Variant
LLGL2 transcript variant X23	XM_047435992.1:c.2877-106… XM_047435992.1:c.2877-106G>A	N/A	Intron Variant
LLGL2 transcript variant X24	XM_047435993.1:c.2877-106… XM_047435993.1:c.2877-106G>A	N/A	Intron Variant
LLGL2 transcript variant X25	XM_047435994.1:c.2877-106… XM_047435994.1:c.2877-106G>A	N/A	Intron Variant
LLGL2 transcript variant X26	XM_047435995.1:c.2877-106… XM_047435995.1:c.2877-106G>A	N/A	Intron Variant
LLGL2 transcript variant X27	XM_047435996.1:c.2889-106… XM_047435996.1:c.2889-106G>A	N/A	Intron Variant
LLGL2 transcript variant X28	XM_047435997.1:c.2691-106… XM_047435997.1:c.2691-106G>A	N/A	Intron Variant
LLGL2 transcript variant X29	XM_047435998.1: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	G=	A	T
GRCh38.p14 chr 17	NC_000017.11:g.75573846=	NC_000017.11:g.75573846G>A	NC_000017.11:g.75573846G>T
GRCh37.p13 chr 17	NC_000017.10:g.73569927=	NC_000017.10:g.73569927G>A	NC_000017.10:g.73569927G>T
LLGL2 transcript variant 3	NM_001031803.1:c.2877-106=	NM_001031803.1:c.2877-106G>A	NM_001031803.1:c.2877-106G>T
LLGL2 transcript variant 3	NM_001031803.2:c.2877-106=	NM_001031803.2:c.2877-106G>A	NM_001031803.2:c.2877-106G>T
LLGL2 transcript variant 1	NM_004524.2:c.2877-106=	NM_004524.2:c.2877-106G>A	NM_004524.2:c.2877-106G>T
LLGL2 transcript variant 1	NM_004524.3:c.2877-106=	NM_004524.3:c.2877-106G>A	NM_004524.3:c.2877-106G>T
LLGL2 transcript variant X1	XM_005257355.1:c.2889-106=	XM_005257355.1:c.2889-106G>A	XM_005257355.1:c.2889-106G>T
LLGL2 transcript variant X2	XM_005257356.1:c.2877-106=	XM_005257356.1:c.2877-106G>A	XM_005257356.1:c.2877-106G>T
LLGL2 transcript variant X3	XM_005257357.1:c.2889-106=	XM_005257357.1:c.2889-106G>A	XM_005257357.1:c.2889-106G>T
LLGL2 transcript variant X4	XM_005257358.1:c.2889-106=	XM_005257358.1:c.2889-106G>A	XM_005257358.1:c.2889-106G>T
LLGL2 transcript variant X5	XM_005257359.1:c.2889-106=	XM_005257359.1:c.2889-106G>A	XM_005257359.1:c.2889-106G>T
LLGL2 transcript variant X6	XM_005257360.1:c.1758-106=	XM_005257360.1:c.1758-106G>A	XM_005257360.1:c.1758-106G>T
LLGL2 transcript variant X4	XM_011524802.2:c.2889-106=	XM_011524802.2:c.2889-106G>A	XM_011524802.2:c.2889-106G>T
LLGL2 transcript variant X11	XM_017024626.2:c.2877-106=	XM_017024626.2:c.2877-106G>A	XM_017024626.2:c.2877-106G>T
LLGL2 transcript variant X22	XM_024450747.2:c.2877-106=	XM_024450747.2:c.2877-106G>A	XM_024450747.2:c.2877-106G>T
LLGL2 transcript variant X1	XM_047435973.1:c.2889-106=	XM_047435973.1:c.2889-106G>A	XM_047435973.1:c.2889-106G>T
LLGL2 transcript variant X2	XM_047435974.1:c.2889-106=	XM_047435974.1:c.2889-106G>A	XM_047435974.1:c.2889-106G>T
LLGL2 transcript variant X3	XM_047435975.1:c.2889-106=	XM_047435975.1:c.2889-106G>A	XM_047435975.1:c.2889-106G>T
LLGL2 transcript variant X5	XM_047435976.1:c.2889-106=	XM_047435976.1:c.2889-106G>A	XM_047435976.1:c.2889-106G>T
LLGL2 transcript variant X6	XM_047435977.1:c.2889-106=	XM_047435977.1:c.2889-106G>A	XM_047435977.1:c.2889-106G>T
LLGL2 transcript variant X7	XM_047435978.1:c.2889-106=	XM_047435978.1:c.2889-106G>A	XM_047435978.1:c.2889-106G>T
LLGL2 transcript variant X8	XM_047435979.1:c.2889-106=	XM_047435979.1:c.2889-106G>A	XM_047435979.1:c.2889-106G>T
LLGL2 transcript variant X9	XM_047435980.1:c.2889-106=	XM_047435980.1:c.2889-106G>A	XM_047435980.1:c.2889-106G>T
LLGL2 transcript variant X10	XM_047435981.1:c.2877-106=	XM_047435981.1:c.2877-106G>A	XM_047435981.1:c.2877-106G>T
LLGL2 transcript variant X12	XM_047435982.1:c.2877-106=	XM_047435982.1:c.2877-106G>A	XM_047435982.1:c.2877-106G>T
LLGL2 transcript variant X13	XM_047435983.1:c.2877-106=	XM_047435983.1:c.2877-106G>A	XM_047435983.1:c.2877-106G>T
LLGL2 transcript variant X14	XM_047435984.1:c.2877-106=	XM_047435984.1:c.2877-106G>A	XM_047435984.1:c.2877-106G>T
LLGL2 transcript variant X15	XM_047435985.1:c.2877-106=	XM_047435985.1:c.2877-106G>A	XM_047435985.1:c.2877-106G>T
LLGL2 transcript variant X16	XM_047435986.1:c.2877-106=	XM_047435986.1:c.2877-106G>A	XM_047435986.1:c.2877-106G>T
LLGL2 transcript variant X17	XM_047435987.1:c.2877-106=	XM_047435987.1:c.2877-106G>A	XM_047435987.1:c.2877-106G>T
LLGL2 transcript variant X18	XM_047435988.1:c.2889-106=	XM_047435988.1:c.2889-106G>A	XM_047435988.1:c.2889-106G>T
LLGL2 transcript variant X19	XM_047435989.1:c.2889-106=	XM_047435989.1:c.2889-106G>A	XM_047435989.1:c.2889-106G>T
LLGL2 transcript variant X20	XM_047435990.1:c.2877-106=	XM_047435990.1:c.2877-106G>A	XM_047435990.1:c.2877-106G>T
LLGL2 transcript variant X21	XM_047435991.1:c.2877-106=	XM_047435991.1:c.2877-106G>A	XM_047435991.1:c.2877-106G>T
LLGL2 transcript variant X23	XM_047435992.1:c.2877-106=	XM_047435992.1:c.2877-106G>A	XM_047435992.1:c.2877-106G>T
LLGL2 transcript variant X24	XM_047435993.1:c.2877-106=	XM_047435993.1:c.2877-106G>A	XM_047435993.1:c.2877-106G>T
LLGL2 transcript variant X25	XM_047435994.1:c.2877-106=	XM_047435994.1:c.2877-106G>A	XM_047435994.1:c.2877-106G>T
LLGL2 transcript variant X26	XM_047435995.1:c.2877-106=	XM_047435995.1:c.2877-106G>A	XM_047435995.1:c.2877-106G>T
LLGL2 transcript variant X27	XM_047435996.1:c.2889-106=	XM_047435996.1:c.2889-106G>A	XM_047435996.1:c.2889-106G>T
LLGL2 transcript variant X28	XM_047435997.1:c.2691-106=	XM_047435997.1:c.2691-106G>A	XM_047435997.1:c.2691-106G>T

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#.

130 SubSNP, 27 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss2497773	Nov 09, 2000 (89)
2	BCM_SSAHASNP	ss10869076	Jul 11, 2003 (116)
3	SSAHASNP	ss21372531	Apr 05, 2004 (121)
4	ABI	ss44039998	Mar 15, 2006 (126)
5	ILLUMINA	ss67487625	Nov 30, 2006 (127)
6	ILLUMINA	ss71189952	May 17, 2007 (127)
7	ILLUMINA	ss75360439	Dec 07, 2007 (129)
8	HGSV	ss85172161	Dec 16, 2007 (130)
9	HGSV	ss85942378	Dec 16, 2007 (130)
10	BCMHGSC_JDW	ss90661892	Mar 24, 2008 (129)
11	BGI	ss103362459	Dec 01, 2009 (131)
12	1000GENOMES	ss113841219	Jan 25, 2009 (130)
13	ILLUMINA-UK	ss118129081	Feb 14, 2009 (130)
14	KRIBB_YJKIM	ss119401372	Dec 01, 2009 (131)
15	ENSEMBL	ss142696647	Dec 01, 2009 (131)
16	GMI	ss154643019	Dec 01, 2009 (131)
17	ILLUMINA	ss160382255	Dec 01, 2009 (131)
18	COMPLETE_GENOMICS	ss168505529	Jul 04, 2010 (132)
19	ILLUMINA	ss172614042	Jul 04, 2010 (132)
20	BUSHMAN	ss202788452	Jul 04, 2010 (132)
21	BCM-HGSC-SUB	ss207895319	Jul 04, 2010 (132)
22	1000GENOMES	ss227659212	Jul 14, 2010 (132)
23	1000GENOMES	ss237323502	Jul 15, 2010 (132)
24	1000GENOMES	ss243601998	Jul 15, 2010 (132)
25	BL	ss255795556	May 09, 2011 (134)
26	GMI	ss282843702	May 04, 2012 (137)
27	PJP	ss291994940	May 09, 2011 (134)
28	ILLUMINA	ss410908975	Sep 17, 2011 (135)
29	ILLUMINA	ss480063013	May 04, 2012 (137)
30	ILLUMINA	ss480071752	May 04, 2012 (137)
31	ILLUMINA	ss480746260	Sep 08, 2015 (146)
32	ILLUMINA	ss484829403	May 04, 2012 (137)
33	TISHKOFF	ss565409051	Apr 25, 2013 (138)
34	SSMP	ss661221915	Apr 25, 2013 (138)
35	ILLUMINA	ss782861276	Sep 08, 2015 (146)
36	ILLUMINA	ss832115302	Sep 08, 2015 (146)
37	EVA-GONL	ss993337823	Aug 21, 2014 (142)
38	JMKIDD_LAB	ss1081218490	Aug 21, 2014 (142)
39	1000GENOMES	ss1359557009	Aug 21, 2014 (142)
40	EVA_GENOME_DK	ss1578245956	Apr 01, 2015 (144)
41	EVA_UK10K_ALSPAC	ss1636113917	Apr 01, 2015 (144)
42	EVA_UK10K_TWINSUK	ss1679107950	Apr 01, 2015 (144)
43	EVA_DECODE	ss1697388753	Apr 01, 2015 (144)
44	EVA_MGP	ss1711472647	Apr 01, 2015 (144)
45	EVA_SVP	ss1713598690	Apr 01, 2015 (144)
46	ILLUMINA	ss1752240180	Sep 08, 2015 (146)
47	HAMMER_LAB	ss1808882932	Sep 08, 2015 (146)
48	WEILL_CORNELL_DGM	ss1936800605	Feb 12, 2016 (147)
49	ILLUMINA	ss1946471855	Feb 12, 2016 (147)
50	ILLUMINA	ss1959769807	Feb 12, 2016 (147)
51	GENOMED	ss1968436288	Jul 19, 2016 (147)
52	JJLAB	ss2029172613	Sep 14, 2016 (149)
53	USC_VALOUEV	ss2157658297	Dec 20, 2016 (150)
54	HUMAN_LONGEVITY	ss2218654313	Dec 20, 2016 (150)
55	SYSTEMSBIOZJU	ss2629081387	Nov 08, 2017 (151)
56	ILLUMINA	ss2633424986	Nov 08, 2017 (151)
57	ILLUMINA	ss2633424987	Nov 08, 2017 (151)
58	ILLUMINA	ss2635075157	Nov 08, 2017 (151)
59	GRF	ss2702224496	Nov 08, 2017 (151)
60	ILLUMINA	ss2710857693	Nov 08, 2017 (151)
61	GNOMAD	ss2952505286	Nov 08, 2017 (151)
62	AFFY	ss2985105369	Nov 08, 2017 (151)
63	AFFY	ss2985742467	Nov 08, 2017 (151)
64	SWEGEN	ss3015909045	Nov 08, 2017 (151)
65	ILLUMINA	ss3021804821	Nov 08, 2017 (151)
66	BIOINF_KMB_FNS_UNIBA	ss3028409133	Nov 08, 2017 (151)
67	CSHL	ss3351842089	Nov 08, 2017 (151)
68	ILLUMINA	ss3625718464	Oct 12, 2018 (152)
69	ILLUMINA	ss3633857157	Oct 12, 2018 (152)
70	ILLUMINA	ss3634687519	Oct 12, 2018 (152)
71	ILLUMINA	ss3635544753	Oct 12, 2018 (152)
72	ILLUMINA	ss3636376659	Oct 12, 2018 (152)
73	ILLUMINA	ss3637296313	Oct 12, 2018 (152)
74	ILLUMINA	ss3638175219	Oct 12, 2018 (152)
75	ILLUMINA	ss3640394829	Oct 12, 2018 (152)
76	ILLUMINA	ss3641084186	Oct 12, 2018 (152)
77	ILLUMINA	ss3641379683	Oct 12, 2018 (152)
78	ILLUMINA	ss3643152586	Oct 12, 2018 (152)
79	ILLUMINA	ss3644695807	Oct 12, 2018 (152)
80	URBANLAB	ss3650703207	Oct 12, 2018 (152)
81	ILLUMINA	ss3652223143	Oct 12, 2018 (152)
82	ILLUMINA	ss3653877420	Oct 12, 2018 (152)
83	EGCUT_WGS	ss3682773953	Jul 13, 2019 (153)
84	EVA_DECODE	ss3700921556	Jul 13, 2019 (153)
85	ACPOP	ss3742219297	Jul 13, 2019 (153)
86	ILLUMINA	ss3744153336	Jul 13, 2019 (153)
87	ILLUMINA	ss3744987766	Jul 13, 2019 (153)
88	EVA	ss3754937472	Jul 13, 2019 (153)
89	PAGE_CC	ss3771945562	Jul 13, 2019 (153)
90	ILLUMINA	ss3772485446	Jul 13, 2019 (153)
91	PACBIO	ss3788269279	Jul 13, 2019 (153)
92	PACBIO	ss3793214661	Jul 13, 2019 (153)
93	PACBIO	ss3798100668	Jul 13, 2019 (153)
94	KHV_HUMAN_GENOMES	ss3820202592	Jul 13, 2019 (153)
95	EVA	ss3825906996	Apr 27, 2020 (154)
96	EVA	ss3834979772	Apr 27, 2020 (154)
97	EVA	ss3841102039	Apr 27, 2020 (154)
98	EVA	ss3846600305	Apr 27, 2020 (154)
99	HGDP	ss3847570921	Apr 27, 2020 (154)
100	SGDP_PRJ	ss3886223826	Apr 27, 2020 (154)
101	KRGDB	ss3935998020	Apr 27, 2020 (154)
102	KOGIC	ss3979297345	Apr 27, 2020 (154)
103	FSA-LAB	ss3984123527	Apr 27, 2021 (155)
104	EVA	ss3984726811	Apr 27, 2021 (155)
105	EVA	ss3985803798	Apr 27, 2021 (155)
106	EVA	ss3986741598	Apr 27, 2021 (155)
107	TOPMED	ss5043954252	Apr 27, 2021 (155)
108	TOMMO_GENOMICS	ss5223494346	Apr 27, 2021 (155)
109	TOMMO_GENOMICS	ss5223494347	Apr 27, 2021 (155)
110	EVA	ss5237240899	Apr 27, 2021 (155)
111	1000G_HIGH_COVERAGE	ss5303946697	Oct 16, 2022 (156)
112	EVA	ss5315902882	Oct 16, 2022 (156)
113	EVA	ss5429052304	Oct 16, 2022 (156)
114	HUGCELL_USP	ss5496910395	Oct 16, 2022 (156)
115	EVA	ss5511829110	Oct 16, 2022 (156)
116	1000G_HIGH_COVERAGE	ss5608052416	Oct 16, 2022 (156)
117	EVA	ss5624075966	Oct 16, 2022 (156)
118	SANFORD_IMAGENETICS	ss5660549064	Oct 16, 2022 (156)
119	TOMMO_GENOMICS	ss5780043647	Oct 16, 2022 (156)
120	TOMMO_GENOMICS	ss5780043648	Oct 16, 2022 (156)
121	EVA	ss5799981991	Oct 16, 2022 (156)
122	YY_MCH	ss5816731027	Oct 16, 2022 (156)
123	EVA	ss5834292569	Oct 16, 2022 (156)
124	EVA	ss5847807581	Oct 16, 2022 (156)
125	EVA	ss5848458248	Oct 16, 2022 (156)
126	EVA	ss5851897669	Oct 16, 2022 (156)
127	EVA	ss5914841376	Oct 16, 2022 (156)
128	EVA	ss5936569000	Oct 16, 2022 (156)
129	EVA	ss5951952121	Oct 16, 2022 (156)
130	EVA	ss5980983576	Oct 16, 2022 (156)
131	1000Genomes	NC_000017.10 - 73569927	Oct 12, 2018 (152)
132	1000Genomes_30x	NC_000017.11 - 75573846	Oct 16, 2022 (156)
133	The Avon Longitudinal Study of Parents and Children	NC_000017.10 - 73569927	Oct 12, 2018 (152)
134	Genetic variation in the Estonian population	NC_000017.10 - 73569927	Oct 12, 2018 (152)
135	The Danish reference pan genome	NC_000017.10 - 73569927	Apr 27, 2020 (154)
136	gnomAD - Genomes Submission ignored due to conflicting rows: Row 513973954 (NC_000017.11:75573845:G:A 2/140068) Row 513973955 (NC_000017.11:75573845:G:T 63084/140026)	-	Apr 27, 2021 (155)
137	gnomAD - Genomes Submission ignored due to conflicting rows: Row 513973954 (NC_000017.11:75573845:G:A 2/140068) Row 513973955 (NC_000017.11:75573845:G:T 63084/140026)	-	Apr 27, 2021 (155)
138	HGDP-CEPH-db Supplement 1	NC_000017.9 - 71081522	Apr 27, 2020 (154)
139	HapMap	NC_000017.11 - 75573846	Apr 27, 2020 (154)
140	KOREAN population from KRGDB	NC_000017.10 - 73569927	Apr 27, 2020 (154)
141	Korean Genome Project	NC_000017.11 - 75573846	Apr 27, 2020 (154)
142	Medical Genome Project healthy controls from Spanish population	NC_000017.10 - 73569927	Apr 27, 2020 (154)
143	Northern Sweden	NC_000017.10 - 73569927	Jul 13, 2019 (153)
144	The PAGE Study	NC_000017.11 - 75573846	Jul 13, 2019 (153)
145	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000017.10 - 73569927	Apr 27, 2021 (155)
146	CNV burdens in cranial meningiomas	NC_000017.10 - 73569927	Apr 27, 2021 (155)
147	Qatari	NC_000017.10 - 73569927	Apr 27, 2020 (154)
148	SGDP_PRJ	NC_000017.10 - 73569927	Apr 27, 2020 (154)
149	Siberian	NC_000017.10 - 73569927	Apr 27, 2020 (154)
150	8.3KJPN Submission ignored due to conflicting rows: Row 81463653 (NC_000017.10:73569926:G:T 2168/16756) Row 81463654 (NC_000017.10:73569926:G:A 8/16756)	-	Apr 27, 2021 (155)
151	8.3KJPN Submission ignored due to conflicting rows: Row 81463653 (NC_000017.10:73569926:G:T 2168/16756) Row 81463654 (NC_000017.10:73569926:G:A 8/16756)	-	Apr 27, 2021 (155)
152	14KJPN Submission ignored due to conflicting rows: Row 113880751 (NC_000017.11:75573845:G:T 3637/28254) Row 113880752 (NC_000017.11:75573845:G:A 10/28254)	-	Oct 16, 2022 (156)
153	14KJPN Submission ignored due to conflicting rows: Row 113880751 (NC_000017.11:75573845:G:T 3637/28254) Row 113880752 (NC_000017.11:75573845:G:A 10/28254)	-	Oct 16, 2022 (156)
154	TopMed	NC_000017.11 - 75573846	Apr 27, 2021 (155)
155	UK 10K study - Twins	NC_000017.10 - 73569927	Oct 12, 2018 (152)
156	A Vietnamese Genetic Variation Database	NC_000017.10 - 73569927	Jul 13, 2019 (153)
157	ALFA	NC_000017.11 - 75573846	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)
rs61171753	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
43175414, 38240806, ss3886223826, ss3935998020, ss5223494347	NC_000017.10:73569926:G:A	NC_000017.11:75573845:G:A	(self)
13307190832, ss2218654313, ss5780043648	NC_000017.11:75573845:G:A	NC_000017.11:75573845:G:A	(self)
248813, ss85172161, ss85942378, ss90661892, ss113841219, ss118129081, ss168505529, ss202788452, ss207895319, ss255795556, ss282843702, ss291994940, ss480063013, ss1697388753, ss1713598690, ss2635075157, ss3643152586, ss3847570921	NC_000017.9:71081521:G:T	NC_000017.11:75573845:G:T	(self)
72833910, 40360891, 28512201, 4444568, 43175414, 588407, 15504162, 1029725, 276359, 18842527, 38240806, 10174651, 40360891, 8920818, ss227659212, ss237323502, ss243601998, ss480071752, ss480746260, ss484829403, ss565409051, ss661221915, ss782861276, ss832115302, ss993337823, ss1081218490, ss1359557009, ss1578245956, ss1636113917, ss1679107950, ss1711472647, ss1752240180, ss1808882932, ss1936800605, ss1946471855, ss1959769807, ss1968436288, ss2029172613, ss2157658297, ss2629081387, ss2633424986, ss2633424987, ss2702224496, ss2710857693, ss2952505286, ss2985105369, ss2985742467, ss3015909045, ss3021804821, ss3351842089, ss3625718464, ss3633857157, ss3634687519, ss3635544753, ss3636376659, ss3637296313, ss3638175219, ss3640394829, ss3641084186, ss3641379683, ss3644695807, ss3652223143, ss3653877420, ss3682773953, ss3742219297, ss3744153336, ss3744987766, ss3754937472, ss3772485446, ss3788269279, ss3793214661, ss3798100668, ss3825906996, ss3834979772, ss3841102039, ss3886223826, ss3935998020, ss3984123527, ss3984726811, ss3985803798, ss3986741598, ss5223494346, ss5315902882, ss5429052304, ss5511829110, ss5624075966, ss5660549064, ss5799981991, ss5834292569, ss5847807581, ss5848458248, ss5936569000, ss5951952121, ss5980983576	NC_000017.10:73569926:G:T	NC_000017.11:75573845:G:T	(self)
95578351, 1528140, 35675346, 1167031, 259499914, 13307190832, ss2218654313, ss3028409133, ss3650703207, ss3700921556, ss3771945562, ss3820202592, ss3846600305, ss3979297345, ss5043954252, ss5237240899, ss5303946697, ss5496910395, ss5608052416, ss5780043647, ss5816731027, ss5851897669, ss5914841376	NC_000017.11:75573845:G:T	NC_000017.11:75573845:G:T	(self)
ss10869076	NT_010641.13:7461684:G:T	NC_000017.11:75573845:G:T	(self)
ss21372531	NT_010641.14:7462087:G:T	NC_000017.11:75573845:G:T	(self)
ss2497773, ss44039998, ss67487625, ss71189952, ss75360439, ss103362459, ss119401372, ss142696647, ss154643019, ss160382255, ss172614042, ss410908975	NT_010783.15:38844078:G:T	NC_000017.11:75573845:G:T	(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 rs1671019

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

rs1671019