Name: rs4147930
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.

rs4147930

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr19:1064194 (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: G=0.306139 (81032/264690, TOPMED)
G=0.27988 (27091/96794, ALFA)
G=0.26967 (17007/63066, ExAC) (+ 18 more)
A=0.42914 (12124/28252, 14KJPN)
A=0.42898 (7188/16756, 8.3KJPN)
G=0.29566 (3814/12900, GO-ESP)
G=0.3843 (2461/6404, 1000G_30x)
G=0.3936 (1971/5008, 1000G)
G=0.2931 (1313/4480, Estonian)
G=0.2701 (1041/3854, ALSPAC)
G=0.2824 (1047/3708, TWINSUK)
A=0.4638 (1357/2926, KOREAN)
A=0.4634 (849/1832, Korea1K)
G=0.254 (253/998, GoNL)
A=0.394 (238/604, Vietnamese)
G=0.260 (156/600, NorthernSweden)
A=0.024 (13/534, MGP)
G=0.251 (109/434, SGDP_PRJ)
A=0.000 (0/330, HapMap)
G=0.319 (69/216, Qatari)
G=0.27 (15/56, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ABCA7 : Synonymous Variant
ARHGAP45 : 2KB Upstream Variant
Publications: 1 citation
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	96794	G=0.27988	A=0.72011, T=0.00001
European	Sub	79222	G=0.27003	A=0.72996, T=0.00001
African	Sub	3270	G=0.4092	A=0.5908, T=0.0000
African Others	Sub	116	G=0.431	A=0.569, T=0.000
African American	Sub	3154	G=0.4084	A=0.5916, T=0.0000
Asian	Sub	166	G=0.639	A=0.361, T=0.000
East Asian	Sub	112	G=0.616	A=0.384, T=0.000
Other Asian	Sub	54	G=0.69	A=0.31, T=0.00
Latin American 1	Sub	464	G=0.287	A=0.713, T=0.000
Latin American 2	Sub	676	G=0.219	A=0.781, T=0.000
South Asian	Sub	4900	G=0.3529	A=0.6471, T=0.0000
Other	Sub	8096	G=0.2773	A=0.7227, T=0.0000

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=0.306139	A=0.693861
Allele Frequency Aggregator	Total	Global	96794	G=0.27988	A=0.72011, T=0.00001
Allele Frequency Aggregator	European	Sub	79222	G=0.27003	A=0.72996, T=0.00001
Allele Frequency Aggregator	Other	Sub	8096	G=0.2773	A=0.7227, T=0.0000
Allele Frequency Aggregator	South Asian	Sub	4900	G=0.3529	A=0.6471, T=0.0000
Allele Frequency Aggregator	African	Sub	3270	G=0.4092	A=0.5908, T=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	676	G=0.219	A=0.781, T=0.000
Allele Frequency Aggregator	Latin American 1	Sub	464	G=0.287	A=0.713, T=0.000
Allele Frequency Aggregator	Asian	Sub	166	G=0.639	A=0.361, T=0.000
ExAC	Global	Study-wide	63066	G=0.26967	A=0.73033
ExAC	Europe	Sub	37516	G=0.23843	A=0.76157
ExAC	Asian	Sub	14256	G=0.37247	A=0.62753
ExAC	American	Sub	5582	G=0.1575	A=0.8425
ExAC	African	Sub	5260	G=0.3356	A=0.6644
ExAC	Other	Sub	452	G=0.239	A=0.761
14KJPN	JAPANESE	Study-wide	28252	G=0.57086	A=0.42914
8.3KJPN	JAPANESE	Study-wide	16756	G=0.57102	A=0.42898
GO Exome Sequencing Project	Global	Study-wide	12900	G=0.29566	A=0.70434
GO Exome Sequencing Project	European American	Sub	8552	G=0.2605	A=0.7395
GO Exome Sequencing Project	African American	Sub	4348	G=0.3648	A=0.6352
1000Genomes_30x	Global	Study-wide	6404	G=0.3843	A=0.6157
1000Genomes_30x	African	Sub	1786	G=0.3970	A=0.6030
1000Genomes_30x	Europe	Sub	1266	G=0.2907	A=0.7093
1000Genomes_30x	South Asian	Sub	1202	G=0.4343	A=0.5657
1000Genomes_30x	East Asian	Sub	1170	G=0.5547	A=0.4453
1000Genomes_30x	American	Sub	980	G=0.217	A=0.783
1000Genomes	Global	Study-wide	5008	G=0.3936	A=0.6064
1000Genomes	African	Sub	1322	G=0.4054	A=0.5946
1000Genomes	East Asian	Sub	1008	G=0.5635	A=0.4365
1000Genomes	Europe	Sub	1006	G=0.2863	A=0.7137
1000Genomes	South Asian	Sub	978	G=0.442	A=0.558
1000Genomes	American	Sub	694	G=0.212	A=0.788
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.2931	A=0.7069
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.2701	A=0.7299
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.2824	A=0.7176
KOREAN population from KRGDB	KOREAN	Study-wide	2926	G=0.5362	A=0.4638
Korean Genome Project	KOREAN	Study-wide	1832	G=0.5366	A=0.4634
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.254	A=0.746
A Vietnamese Genetic Variation Database	Global	Study-wide	604	G=0.606	A=0.394
Northern Sweden	ACPOP	Study-wide	600	G=0.260	A=0.740
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	G=0.976	A=0.024
SGDP_PRJ	Global	Study-wide	434	G=0.251	A=0.749
HapMap	Global	Study-wide	330	G=1.000	A=0.000
HapMap	African	Sub	120	G=1.000	A=0.000
HapMap	American	Sub	120	G=1.000	A=0.000
HapMap	Asian	Sub	90	G=1.00	A=0.00
Qatari	Global	Study-wide	216	G=0.319	A=0.681
Siberian	Global	Study-wide	56	G=0.27	A=0.73

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 19	NC_000019.10:g.1064194G>A
GRCh38.p14 chr 19	NC_000019.10:g.1064194G>T
GRCh37.p13 chr 19	NC_000019.9:g.1064193G>A
GRCh37.p13 chr 19	NC_000019.9:g.1064193G>T
ABCA7 RefSeqGene	NG_046909.1:g.29092G>A
ABCA7 RefSeqGene	NG_046909.1:g.29092G>T

Gene: ARHGAP45, Rho GTPase activating protein 45 (plus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
ARHGAP45 transcript variant 2	NM_001258328.4:c.	N/A	Upstream Transcript Variant
ARHGAP45 transcript variant 3	NM_001282334.2:c.	N/A	N/A
ARHGAP45 transcript variant 4	NM_001282335.3:c.	N/A	N/A
ARHGAP45 transcript variant 5	NM_001321232.2:c.	N/A	N/A
ARHGAP45 transcript variant 1	NM_012292.5:c.	N/A	N/A
ARHGAP45 transcript variant X1	XM_047438545.1:c.	N/A	Upstream Transcript Variant
ARHGAP45 transcript variant X3	XM_047438546.1:c.	N/A	Upstream Transcript Variant
ARHGAP45 transcript variant X4	XM_047438547.1:c.	N/A	Upstream Transcript Variant
ARHGAP45 transcript variant X5	XM_047438548.1:c.	N/A	Upstream Transcript Variant
ARHGAP45 transcript variant X2	XM_011527858.1:c.	N/A	N/A
ARHGAP45 transcript variant X6	XM_047438549.1:c.	N/A	N/A

Gene: ABCA7, ATP binding cassette subfamily A member 7 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ABCA7 transcript	NM_019112.4:c.5985G>A	L [CTG] > L [CTA]	Coding Sequence Variant
phospholipid-transporting ATPase ABCA7	NP_061985.2:p.Leu1995=	L (Leu) > L (Leu)	Synonymous Variant
ABCA7 transcript	NM_019112.4:c.5985G>T	L [CTG] > L [CTT]	Coding Sequence Variant
phospholipid-transporting ATPase ABCA7	NP_061985.2:p.Leu1995=	L (Leu) > L (Leu)	Synonymous Variant
ABCA7 transcript variant X8	XM_047438051.1:c.*54=	N/A	3 Prime UTR Variant
ABCA7 transcript variant X11	XM_006722617.3:c.	N/A	Genic Downstream Transcript Variant
ABCA7 transcript variant X12	XM_011527633.3:c.	N/A	Genic Downstream Transcript Variant
ABCA7 transcript variant X17	XM_011527634.2:c.	N/A	Genic Downstream Transcript Variant
ABCA7 transcript variant X18	XM_011527635.2:c.	N/A	Genic Downstream Transcript Variant
ABCA7 transcript variant X10	XM_047438052.1:c.	N/A	Genic Downstream Transcript Variant
ABCA7 transcript variant X15	XM_047438053.1:c.	N/A	Genic Downstream Transcript Variant
ABCA7 transcript variant X21	XM_047438056.1:c.	N/A	Genic Downstream Transcript Variant
ABCA7 transcript variant X1	XM_047438044.1:c.5985G>A	L [CTG] > L [CTA]	Coding Sequence Variant
phospholipid-transporting ATPase ABCA7 isoform X1	XP_047294000.1:p.Leu1995=	L (Leu) > L (Leu)	Synonymous Variant
ABCA7 transcript variant X1	XM_047438044.1:c.5985G>T	L [CTG] > L [CTT]	Coding Sequence Variant
phospholipid-transporting ATPase ABCA7 isoform X1	XP_047294000.1:p.Leu1995=	L (Leu) > L (Leu)	Synonymous Variant
ABCA7 transcript variant X2	XM_047438045.1:c.5958G>A	L [CTG] > L [CTA]	Coding Sequence Variant
phospholipid-transporting ATPase ABCA7 isoform X2	XP_047294001.1:p.Leu1986=	L (Leu) > L (Leu)	Synonymous Variant
ABCA7 transcript variant X2	XM_047438045.1:c.5958G>T	L [CTG] > L [CTT]	Coding Sequence Variant
phospholipid-transporting ATPase ABCA7 isoform X2	XP_047294001.1:p.Leu1986=	L (Leu) > L (Leu)	Synonymous Variant
ABCA7 transcript variant X3	XM_006722616.2:c.5931G>A	L [CTG] > L [CTA]	Coding Sequence Variant
phospholipid-transporting ATPase ABCA7 isoform X3	XP_006722679.1:p.Leu1977=	L (Leu) > L (Leu)	Synonymous Variant
ABCA7 transcript variant X3	XM_006722616.2:c.5931G>T	L [CTG] > L [CTT]	Coding Sequence Variant
phospholipid-transporting ATPase ABCA7 isoform X3	XP_006722679.1:p.Leu1977=	L (Leu) > L (Leu)	Synonymous Variant
ABCA7 transcript variant X4	XM_047438046.1:c.5931G>A	L [CTG] > L [CTA]	Coding Sequence Variant
phospholipid-transporting ATPase ABCA7 isoform X3	XP_047294002.1:p.Leu1977=	L (Leu) > L (Leu)	Synonymous Variant
ABCA7 transcript variant X4	XM_047438046.1:c.5931G>T	L [CTG] > L [CTT]	Coding Sequence Variant
phospholipid-transporting ATPase ABCA7 isoform X3	XP_047294002.1:p.Leu1977=	L (Leu) > L (Leu)	Synonymous Variant
ABCA7 transcript variant X5	XM_047438047.1:c.5856G>A	L [CTG] > L [CTA]	Coding Sequence Variant
phospholipid-transporting ATPase ABCA7 isoform X4	XP_047294003.1:p.Leu1952=	L (Leu) > L (Leu)	Synonymous Variant
ABCA7 transcript variant X5	XM_047438047.1:c.5856G>T	L [CTG] > L [CTT]	Coding Sequence Variant
phospholipid-transporting ATPase ABCA7 isoform X4	XP_047294003.1:p.Leu1952=	L (Leu) > L (Leu)	Synonymous Variant
ABCA7 transcript variant X6	XM_047438048.1:c.5538G>A	L [CTG] > L [CTA]	Coding Sequence Variant
phospholipid-transporting ATPase ABCA7 isoform X5	XP_047294004.1:p.Leu1846=	L (Leu) > L (Leu)	Synonymous Variant
ABCA7 transcript variant X6	XM_047438048.1:c.5538G>T	L [CTG] > L [CTT]	Coding Sequence Variant
phospholipid-transporting ATPase ABCA7 isoform X5	XP_047294004.1:p.Leu1846=	L (Leu) > L (Leu)	Synonymous Variant
ABCA7 transcript variant X7	XM_047438049.1:c.5529G>A	L [CTG] > L [CTA]	Coding Sequence Variant
phospholipid-transporting ATPase ABCA7 isoform X6	XP_047294005.1:p.Leu1843=	L (Leu) > L (Leu)	Synonymous Variant
ABCA7 transcript variant X7	XM_047438049.1:c.5529G>T	L [CTG] > L [CTT]	Coding Sequence Variant
phospholipid-transporting ATPase ABCA7 isoform X6	XP_047294005.1:p.Leu1843=	L (Leu) > L (Leu)	Synonymous Variant
ABCA7 transcript variant X19	XM_047438054.1:c.3642G>A	L [CTG] > L [CTA]	Coding Sequence Variant
phospholipid-transporting ATPase ABCA7 isoform X13	XP_047294010.1:p.Leu1214=	L (Leu) > L (Leu)	Synonymous Variant
ABCA7 transcript variant X19	XM_047438054.1:c.3642G>T	L [CTG] > L [CTT]	Coding Sequence Variant
phospholipid-transporting ATPase ABCA7 isoform X13	XP_047294010.1:p.Leu1214=	L (Leu) > L (Leu)	Synonymous Variant
ABCA7 transcript variant X20	XM_047438055.1:c.3642G>A	L [CTG] > L [CTA]	Coding Sequence Variant
phospholipid-transporting ATPase ABCA7 isoform X13	XP_047294011.1:p.Leu1214=	L (Leu) > L (Leu)	Synonymous Variant
ABCA7 transcript variant X20	XM_047438055.1:c.3642G>T	L [CTG] > L [CTT]	Coding Sequence Variant
phospholipid-transporting ATPase ABCA7 isoform X13	XP_047294011.1:p.Leu1214=	L (Leu) > L (Leu)	Synonymous Variant
ABCA7 transcript variant X13	XR_007066538.1:n.	N/A	Genic Downstream Transcript Variant
ABCA7 transcript variant X9	XR_936149.2:n.	N/A	Genic Downstream Transcript Variant
ABCA7 transcript variant X14	XR_936152.2:n.	N/A	Genic Downstream Transcript Variant
ABCA7 transcript variant X16	XR_936154.2:n.	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 19	NC_000019.10:g.1064194=	NC_000019.10:g.1064194G>A	NC_000019.10:g.1064194G>T
GRCh37.p13 chr 19	NC_000019.9:g.1064193=	NC_000019.9:g.1064193G>A	NC_000019.9:g.1064193G>T
ABCA7 RefSeqGene	NG_046909.1:g.29092=	NG_046909.1:g.29092G>A	NG_046909.1:g.29092G>T
ABCA7 transcript	NM_019112.4:c.5985=	NM_019112.4:c.5985G>A	NM_019112.4:c.5985G>T
ABCA7 transcript	NM_019112.3:c.5985=	NM_019112.3:c.5985G>A	NM_019112.3:c.5985G>T
ABCA7 transcript variant X3	XM_006722616.2:c.5931=	XM_006722616.2:c.5931G>A	XM_006722616.2:c.5931G>T
ABCA7 transcript variant X5	XM_006722616.1:c.5931=	XM_006722616.1:c.5931G>A	XM_006722616.1:c.5931G>T
ABCA7 transcript variant X2	XM_047438045.1:c.5958=	XM_047438045.1:c.5958G>A	XM_047438045.1:c.5958G>T
ABCA7 transcript variant X5	XM_047438047.1:c.5856=	XM_047438047.1:c.5856G>A	XM_047438047.1:c.5856G>T
ABCA7 transcript variant X1	XM_047438044.1:c.5985=	XM_047438044.1:c.5985G>A	XM_047438044.1:c.5985G>T
ABCA7 transcript variant X4	XM_047438046.1:c.5931=	XM_047438046.1:c.5931G>A	XM_047438046.1:c.5931G>T
ABCA7 transcript variant X6	XM_047438048.1:c.5538=	XM_047438048.1:c.5538G>A	XM_047438048.1:c.5538G>T
ABCA7 transcript variant X8	XM_047438051.1:c.*54=	XM_047438051.1:c.*54G>A	XM_047438051.1:c.*54G>T
ABCA7 transcript variant X7	XM_047438049.1:c.5529=	XM_047438049.1:c.5529G>A	XM_047438049.1:c.5529G>T
ABCA7 transcript variant X19	XM_047438054.1:c.3642=	XM_047438054.1:c.3642G>A	XM_047438054.1:c.3642G>T
ABCA7 transcript variant X20	XM_047438055.1:c.3642=	XM_047438055.1:c.3642G>A	XM_047438055.1:c.3642G>T
ABCA7 transcript variant 2	NM_033308.1:c.5571A>G	NM_033308.1:c.5571=	NM_033308.1:c.5571A>T
phospholipid-transporting ATPase ABCA7	NP_061985.2:p.Leu1995=	NP_061985.2:p.Leu1995=	NP_061985.2:p.Leu1995=
phospholipid-transporting ATPase ABCA7 isoform X3	XP_006722679.1:p.Leu1977=	XP_006722679.1:p.Leu1977=	XP_006722679.1:p.Leu1977=
phospholipid-transporting ATPase ABCA7 isoform X2	XP_047294001.1:p.Leu1986=	XP_047294001.1:p.Leu1986=	XP_047294001.1:p.Leu1986=
phospholipid-transporting ATPase ABCA7 isoform X4	XP_047294003.1:p.Leu1952=	XP_047294003.1:p.Leu1952=	XP_047294003.1:p.Leu1952=
phospholipid-transporting ATPase ABCA7 isoform X1	XP_047294000.1:p.Leu1995=	XP_047294000.1:p.Leu1995=	XP_047294000.1:p.Leu1995=
phospholipid-transporting ATPase ABCA7 isoform X3	XP_047294002.1:p.Leu1977=	XP_047294002.1:p.Leu1977=	XP_047294002.1:p.Leu1977=
phospholipid-transporting ATPase ABCA7 isoform X5	XP_047294004.1:p.Leu1846=	XP_047294004.1:p.Leu1846=	XP_047294004.1:p.Leu1846=
phospholipid-transporting ATPase ABCA7 isoform X6	XP_047294005.1:p.Leu1843=	XP_047294005.1:p.Leu1843=	XP_047294005.1:p.Leu1843=
phospholipid-transporting ATPase ABCA7 isoform X13	XP_047294010.1:p.Leu1214=	XP_047294010.1:p.Leu1214=	XP_047294010.1:p.Leu1214=
phospholipid-transporting ATPase ABCA7 isoform X13	XP_047294011.1:p.Leu1214=	XP_047294011.1:p.Leu1214=	XP_047294011.1:p.Leu1214=

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#.

117 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	RIKENSNPRC	ss5601547	Dec 16, 2002 (110)
2	WI_SSAHASNP	ss6635633	Feb 20, 2003 (111)
3	CSHL-HAPMAP	ss16788350	Feb 27, 2004 (120)
4	CSHL-HAPMAP	ss19396348	Feb 27, 2004 (120)
5	SSAHASNP	ss21527099	Apr 05, 2004 (121)
6	ABI	ss40974416	Mar 14, 2006 (126)
7	HUMANGENOME_JCVI	ss96284982	Feb 06, 2009 (130)
8	1000GENOMES	ss110974202	Jan 25, 2009 (130)
9	ILLUMINA-UK	ss117615645	Feb 14, 2009 (130)
10	ENSEMBL	ss143302407	Dec 01, 2009 (131)
11	ILLUMINA	ss154283664	Dec 01, 2009 (131)
12	GMI	ss155517208	Dec 01, 2009 (131)
13	ILLUMINA	ss159460573	Dec 01, 2009 (131)
14	SEATTLESEQ	ss159737783	Dec 01, 2009 (131)
15	COMPLETE_GENOMICS	ss167640772	Jul 04, 2010 (132)
16	COMPLETE_GENOMICS	ss168851948	Jul 04, 2010 (132)
17	ILLUMINA	ss173692818	Jul 04, 2010 (132)
18	BUSHMAN	ss203578942	Jul 04, 2010 (132)
19	BCM-HGSC-SUB	ss208441039	Jul 04, 2010 (132)
20	1000GENOMES	ss211927509	Jul 14, 2010 (132)
21	1000GENOMES	ss228005375	Jul 14, 2010 (132)
22	1000GENOMES	ss237576027	Jul 15, 2010 (132)
23	1000GENOMES	ss243803590	Jul 15, 2010 (132)
24	GMI	ss283095460	May 04, 2012 (137)
25	GMI	ss287332865	Apr 25, 2013 (138)
26	PJP	ss292172478	May 09, 2011 (134)
27	NHLBI-ESP	ss342478804	May 09, 2011 (134)
28	ILLUMINA	ss483105608	May 04, 2012 (137)
29	ILLUMINA	ss483791285	May 04, 2012 (137)
30	1000GENOMES	ss491143494	May 04, 2012 (137)
31	CLINSEQ_SNP	ss491753022	May 04, 2012 (137)
32	ILLUMINA	ss535306802	Sep 08, 2015 (146)
33	TISHKOFF	ss565804116	Apr 25, 2013 (138)
34	SSMP	ss661656040	Apr 25, 2013 (138)
35	ILLUMINA	ss779497753	Sep 08, 2015 (146)
36	ILLUMINA	ss781996120	Sep 08, 2015 (146)
37	ILLUMINA	ss832972078	Jul 13, 2019 (153)
38	ILLUMINA	ss834967955	Sep 08, 2015 (146)
39	JMKIDD_LAB	ss974502829	Aug 21, 2014 (142)
40	EVA-GONL	ss994005087	Aug 21, 2014 (142)
41	JMKIDD_LAB	ss1067580960	Aug 21, 2014 (142)
42	JMKIDD_LAB	ss1081707590	Aug 21, 2014 (142)
43	1000GENOMES	ss1362034635	Aug 21, 2014 (142)
44	DDI	ss1428309532	Apr 01, 2015 (144)
45	EVA_UK10K_ALSPAC	ss1637418704	Apr 01, 2015 (144)
46	EVA_UK10K_TWINSUK	ss1680412737	Apr 01, 2015 (144)
47	EVA_EXAC	ss1693218809	Apr 01, 2015 (144)
48	EVA_DECODE	ss1698067908	Apr 01, 2015 (144)
49	EVA_MGP	ss1711491181	Apr 01, 2015 (144)
50	HAMMER_LAB	ss1809169954	Sep 08, 2015 (146)
51	WEILL_CORNELL_DGM	ss1937481363	Feb 12, 2016 (147)
52	GENOMED	ss1968591919	Jul 19, 2016 (147)
53	JJLAB	ss2029516413	Sep 14, 2016 (149)
54	USC_VALOUEV	ss2158027337	Dec 20, 2016 (150)
55	HUMAN_LONGEVITY	ss2223645475	Dec 20, 2016 (150)
56	SYSTEMSBIOZJU	ss2629256726	Nov 08, 2017 (151)
57	ILLUMINA	ss2633508253	Nov 08, 2017 (151)
58	GRF	ss2702631347	Nov 08, 2017 (151)
59	GNOMAD	ss2743401413	Nov 08, 2017 (151)
60	GNOMAD	ss2749993783	Nov 08, 2017 (151)
61	GNOMAD	ss2959514783	Nov 08, 2017 (151)
62	SWEGEN	ss3016948554	Nov 08, 2017 (151)
63	EVA_SAMSUNG_MC	ss3023071384	Nov 08, 2017 (151)
64	BIOINF_KMB_FNS_UNIBA	ss3028590867	Nov 08, 2017 (151)
65	CSHL	ss3352157212	Nov 08, 2017 (151)
66	ILLUMINA	ss3627870117	Oct 12, 2018 (152)
67	ILLUMINA	ss3631482818	Oct 12, 2018 (152)
68	ILLUMINA	ss3638210752	Oct 12, 2018 (152)
69	OMUKHERJEE_ADBS	ss3646526055	Oct 12, 2018 (152)
70	URBANLAB	ss3650850903	Oct 12, 2018 (152)
71	EGCUT_WGS	ss3683798231	Jul 13, 2019 (153)
72	EVA_DECODE	ss3702171077	Jul 13, 2019 (153)
73	ACPOP	ss3742781250	Jul 13, 2019 (153)
74	EVA	ss3755714512	Jul 13, 2019 (153)
75	PACBIO	ss3788444995	Jul 13, 2019 (153)
76	PACBIO	ss3793368626	Jul 13, 2019 (153)
77	PACBIO	ss3798255215	Jul 13, 2019 (153)
78	KHV_HUMAN_GENOMES	ss3820968866	Jul 13, 2019 (153)
79	EVA	ss3825207541	Apr 27, 2020 (154)
80	EVA	ss3825532169	Apr 27, 2020 (154)
81	EVA	ss3825546777	Apr 27, 2020 (154)
82	EVA	ss3825919752	Apr 27, 2020 (154)
83	EVA	ss3835307495	Apr 27, 2020 (154)
84	EVA	ss3841276503	Apr 27, 2020 (154)
85	EVA	ss3846780292	Apr 27, 2020 (154)
86	SGDP_PRJ	ss3887576509	Apr 27, 2020 (154)
87	KRGDB	ss3937499156	Apr 27, 2020 (154)
88	KOGIC	ss3980632377	Apr 27, 2020 (154)
89	FSA-LAB	ss3984136853	Apr 26, 2021 (155)
90	EVA	ss3986078452	Apr 26, 2021 (155)
91	EVA	ss3986765002	Apr 26, 2021 (155)
92	TOPMED	ss5065355604	Apr 26, 2021 (155)
93	TOMMO_GENOMICS	ss5226322606	Apr 26, 2021 (155)
94	EVA	ss5236952442	Apr 26, 2021 (155)
95	EVA	ss5237243873	Apr 26, 2021 (155)
96	EVA	ss5237671160	Oct 16, 2022 (156)
97	1000G_HIGH_COVERAGE	ss5306186546	Oct 16, 2022 (156)
98	EVA	ss5315955569	Oct 16, 2022 (156)
99	EVA	ss5433049968	Oct 16, 2022 (156)
100	HUGCELL_USP	ss5498863145	Oct 16, 2022 (156)
101	EVA	ss5512027466	Oct 16, 2022 (156)
102	1000G_HIGH_COVERAGE	ss5611467084	Oct 16, 2022 (156)
103	EVA	ss5623974986	Oct 16, 2022 (156)
104	EVA	ss5624082313	Oct 16, 2022 (156)
105	SANFORD_IMAGENETICS	ss5661812123	Oct 16, 2022 (156)
106	TOMMO_GENOMICS	ss5784452869	Oct 16, 2022 (156)
107	EVA	ss5800072443	Oct 16, 2022 (156)
108	EVA	ss5800216564	Oct 16, 2022 (156)
109	YY_MCH	ss5817332181	Oct 16, 2022 (156)
110	EVA	ss5840137946	Oct 16, 2022 (156)
111	EVA	ss5848472987	Oct 16, 2022 (156)
112	EVA	ss5852172120	Oct 16, 2022 (156)
113	EVA	ss5926981792	Oct 16, 2022 (156)
114	EVA	ss5936571070	Oct 16, 2022 (156)
115	EVA	ss5953244751	Oct 16, 2022 (156)
116	EVA	ss5981022405	Oct 16, 2022 (156)
117	EVA	ss5981307388	Oct 16, 2022 (156)
118	1000Genomes	NC_000019.9 - 1064193	Oct 12, 2018 (152)
119	1000Genomes_30x	NC_000019.10 - 1064194	Oct 16, 2022 (156)
120	The Avon Longitudinal Study of Parents and Children	NC_000019.9 - 1064193	Oct 12, 2018 (152)
121	Genetic variation in the Estonian population	NC_000019.9 - 1064193	Oct 12, 2018 (152)
122	ExAC	NC_000019.9 - 1064193	Oct 12, 2018 (152)
123	gnomAD - Genomes Submission ignored due to conflicting rows: Row 531721573 (NC_000019.10:1064193:G:A 97610/140108) Row 531721574 (NC_000019.10:1064193:G:T 1/140144)	-	Apr 26, 2021 (155)
124	gnomAD - Genomes Submission ignored due to conflicting rows: Row 531721573 (NC_000019.10:1064193:G:A 97610/140108) Row 531721574 (NC_000019.10:1064193:G:T 1/140144)	-	Apr 26, 2021 (155)
125	gnomAD - Exomes Submission ignored due to conflicting rows: Row 12715046 (NC_000019.9:1064192:G:G 58283/196514, NC_000019.9:1064192:G:A 138231/196514) Row 12715047 (NC_000019.9:1064192:G:G 196512/196514, NC_000019.9:1064192:G:T 2/196514)	-	Jul 13, 2019 (153)
126	gnomAD - Exomes Submission ignored due to conflicting rows: Row 12715046 (NC_000019.9:1064192:G:G 58283/196514, NC_000019.9:1064192:G:A 138231/196514) Row 12715047 (NC_000019.9:1064192:G:G 196512/196514, NC_000019.9:1064192:G:T 2/196514)	-	Jul 13, 2019 (153)
127	GO Exome Sequencing Project	NC_000019.9 - 1064193	Oct 12, 2018 (152)
128	Genome of the Netherlands Release 5	NC_000019.9 - 1064193	Apr 27, 2020 (154)
129	HapMap	NC_000019.10 - 1064194	Apr 27, 2020 (154)
130	KOREAN population from KRGDB	NC_000019.9 - 1064193	Apr 27, 2020 (154)
131	Korean Genome Project	NC_000019.10 - 1064194	Apr 27, 2020 (154)
132	Medical Genome Project healthy controls from Spanish population	NC_000019.9 - 1064193	Apr 27, 2020 (154)
133	Northern Sweden	NC_000019.9 - 1064193	Jul 13, 2019 (153)
134	Qatari	NC_000019.9 - 1064193	Apr 27, 2020 (154)
135	SGDP_PRJ	NC_000019.9 - 1064193	Apr 27, 2020 (154)
136	Siberian	NC_000019.9 - 1064193	Apr 27, 2020 (154)
137	8.3KJPN	NC_000019.9 - 1064193	Apr 26, 2021 (155)
138	14KJPN	NC_000019.10 - 1064194	Oct 16, 2022 (156)
139	TopMed	NC_000019.10 - 1064194	Apr 26, 2021 (155)
140	UK 10K study - Twins	NC_000019.9 - 1064193	Oct 12, 2018 (152)
141	A Vietnamese Genetic Variation Database	NC_000019.9 - 1064193	Jul 13, 2019 (153)
142	ALFA	NC_000019.10 - 1064194	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss110974202, ss117615645, ss167640772, ss168851948, ss203578942, ss208441039, ss211927509, ss283095460, ss287332865, ss292172478, ss483791285, ss491753022, ss1698067908	NC_000019.8:1015192:G:A	NC_000019.10:1064193:G:A	(self)
75400006, 41796233, 29536479, 3695582, 1664549, 18622630, 44676550, 606941, 16066115, 19523285, 39593489, 10543691, 84291913, 41796233, 9243857, ss228005375, ss237576027, ss243803590, ss342478804, ss483105608, ss491143494, ss535306802, ss565804116, ss661656040, ss779497753, ss781996120, ss832972078, ss834967955, ss974502829, ss994005087, ss1067580960, ss1081707590, ss1362034635, ss1428309532, ss1637418704, ss1680412737, ss1693218809, ss1711491181, ss1809169954, ss1937481363, ss1968591919, ss2029516413, ss2158027337, ss2629256726, ss2633508253, ss2702631347, ss2743401413, ss2749993783, ss2959514783, ss3016948554, ss3023071384, ss3352157212, ss3627870117, ss3631482818, ss3638210752, ss3646526055, ss3683798231, ss3742781250, ss3755714512, ss3788444995, ss3793368626, ss3798255215, ss3825207541, ss3825532169, ss3825546777, ss3825919752, ss3835307495, ss3841276503, ss3887576509, ss3937499156, ss3984136853, ss3986078452, ss3986765002, ss5226322606, ss5315955569, ss5433049968, ss5512027466, ss5623974986, ss5624082313, ss5661812123, ss5800072443, ss5800216564, ss5840137946, ss5848472987, ss5936571070, ss5953244751, ss5981022405, ss5981307388	NC_000019.9:1064192:G:A	NC_000019.10:1064193:G:A	(self)
98993019, 1658094, 37010378, 118289973, 280901268, 12858105585, ss2223645475, ss3028590867, ss3650850903, ss3702171077, ss3820968866, ss3846780292, ss3980632377, ss5065355604, ss5236952442, ss5237243873, ss5237671160, ss5306186546, ss5498863145, ss5611467084, ss5784452869, ss5817332181, ss5852172120, ss5926981792	NC_000019.10:1064193:G:A	NC_000019.10:1064193:G:A	(self)
ss5601547, ss6635633, ss16788350, ss19396348, ss21527099, ss40974416, ss96284982, ss143302407, ss154283664, ss155517208, ss159460573, ss159737783, ss173692818	NT_011255.14:1004192:G:A	NC_000019.10:1064193:G:A	(self)
ss2743401413, ss2749993783, ss2959514783	NC_000019.9:1064192:G:T	NC_000019.10:1064193:G:T	(self)
12858105585, ss2223645475	NC_000019.10:1064193:G:T	NC_000019.10:1064193:G:T	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

1 citation for rs4147930

PMID	Title	Author	Year	Journal
34958020	Association Between Common Variants of APOE, ABCA7, A2M, BACE1, and Cerebrospinal Fluid Biomarkers in Alzheimer's Disease: Data from the PUMCH Dementia Cohort.	Dong L et al.	2022	Journal of Alzheimer's disease

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

rs4147930