Name: rs17342647
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.

rs17342647

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:99861633 (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: C>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.096999 (32265/332632, ALFA)
T=0.073042 (18344/251144, GnomAD_exome)
T=0.075422 (8973/118970, ExAC) (+ 20 more)
T=0.03039 (2392/78698, PAGE_STUDY)
T=0.08458 (1100/13006, GO-ESP)
T=0.0306 (196/6404, 1000G_30x)
T=0.0308 (154/5008, 1000G)
T=0.1230 (551/4480, Estonian)
T=0.1196 (461/3854, ALSPAC)
T=0.1297 (481/3708, TWINSUK)
T=0.0423 (48/1136, Daghestan)
T=0.139 (139/998, GoNL)
T=0.060 (57/956, HapMap)
T=0.003 (2/792, PRJEB37584)
T=0.135 (81/600, NorthernSweden)
T=0.031 (17/550, PharmGKB)
T=0.056 (30/534, MGP)
T=0.145 (44/304, FINRISK)
T=0.023 (5/216, Qatari)
T=0.10 (4/40, GENOME_DK)
C=0.45 (10/22, SGDP_PRJ)
C=0.5 (2/4, Siberian)
T=0.5 (2/4, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CYP3A43 : Synonymous 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	354116	C=0.903602	G=0.000000, T=0.096398
European	Sub	308204	C=0.895585	G=0.000000, T=0.104415
African	Sub	14454	C=0.98215	G=0.00000, T=0.01785
African Others	Sub	564	C=0.996	G=0.000, T=0.004
African American	Sub	13890	C=0.98157	G=0.00000, T=0.01843
Asian	Sub	4000	C=1.0000	G=0.0000, T=0.0000
East Asian	Sub	3224	C=1.0000	G=0.0000, T=0.0000
Other Asian	Sub	776	C=1.000	G=0.000, T=0.000
Latin American 1	Sub	1420	C=0.9415	G=0.0000, T=0.0585
Latin American 2	Sub	3138	C=0.9605	G=0.0000, T=0.0395
South Asian	Sub	5220	C=0.9732	G=0.0000, T=0.0268
Other	Sub	17680	C=0.92364	G=0.00000, T=0.07636

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

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	332632	C=0.903001	G=0.000000, T=0.096999
Allele Frequency Aggregator	European	Sub	294950	C=0.896199	G=0.000000, T=0.103801
Allele Frequency Aggregator	Other	Sub	15430	C=0.92417	G=0.00000, T=0.07583
Allele Frequency Aggregator	African	Sub	8474	C=0.9844	G=0.0000, T=0.0156
Allele Frequency Aggregator	South Asian	Sub	5220	C=0.9732	G=0.0000, T=0.0268
Allele Frequency Aggregator	Asian	Sub	4000	C=1.0000	G=0.0000, T=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	3138	C=0.9605	G=0.0000, T=0.0395
Allele Frequency Aggregator	Latin American 1	Sub	1420	C=0.9415	G=0.0000, T=0.0585
gnomAD - Exomes	Global	Study-wide	251144	C=0.926958	T=0.073042
gnomAD - Exomes	European	Sub	135162	C=0.885833	T=0.114167
gnomAD - Exomes	Asian	Sub	48982	C=0.98450	T=0.01550
gnomAD - Exomes	American	Sub	34552	C=0.96892	T=0.03108
gnomAD - Exomes	African	Sub	16248	C=0.98178	T=0.01822
gnomAD - Exomes	Ashkenazi Jewish	Sub	10078	C=0.96120	T=0.03880
gnomAD - Exomes	Other	Sub	6122	C=0.9358	T=0.0642
ExAC	Global	Study-wide	118970	C=0.924578	T=0.075422
ExAC	Europe	Sub	72030	C=0.88973	T=0.11027
ExAC	Asian	Sub	24582	C=0.98267	T=0.01733
ExAC	American	Sub	11222	C=0.96944	T=0.03056
ExAC	African	Sub	10244	C=0.98057	T=0.01943
ExAC	Other	Sub	892	C=0.930	T=0.070
The PAGE Study	Global	Study-wide	78698	C=0.96961	T=0.03039
The PAGE Study	AfricanAmerican	Sub	32512	C=0.97561	T=0.02439
The PAGE Study	Mexican	Sub	10810	C=0.96448	T=0.03552
The PAGE Study	Asian	Sub	8318	C=0.9994	T=0.0006
The PAGE Study	PuertoRican	Sub	7918	C=0.9540	T=0.0460
The PAGE Study	NativeHawaiian	Sub	4534	C=0.9753	T=0.0247
The PAGE Study	Cuban	Sub	4230	C=0.9322	T=0.0678
The PAGE Study	Dominican	Sub	3828	C=0.9530	T=0.0470
The PAGE Study	CentralAmerican	Sub	2450	C=0.9702	T=0.0298
The PAGE Study	SouthAmerican	Sub	1982	C=0.9632	T=0.0368
The PAGE Study	NativeAmerican	Sub	1260	C=0.9206	T=0.0794
The PAGE Study	SouthAsian	Sub	856	C=0.975	T=0.025
GO Exome Sequencing Project	Global	Study-wide	13006	C=0.91542	T=0.08458
GO Exome Sequencing Project	European American	Sub	8600	C=0.8847	T=0.1153
GO Exome Sequencing Project	African American	Sub	4406	C=0.9755	T=0.0245
1000Genomes_30x	Global	Study-wide	6404	C=0.9694	T=0.0306
1000Genomes_30x	African	Sub	1786	C=0.9978	T=0.0022
1000Genomes_30x	Europe	Sub	1266	C=0.9052	T=0.0948
1000Genomes_30x	South Asian	Sub	1202	C=0.9750	T=0.0250
1000Genomes_30x	East Asian	Sub	1170	C=1.0000	T=0.0000
1000Genomes_30x	American	Sub	980	C=0.957	T=0.043
1000Genomes	Global	Study-wide	5008	C=0.9692	T=0.0308
1000Genomes	African	Sub	1322	C=0.9970	T=0.0030
1000Genomes	East Asian	Sub	1008	C=1.0000	T=0.0000
1000Genomes	Europe	Sub	1006	C=0.9066	T=0.0934
1000Genomes	South Asian	Sub	978	C=0.975	T=0.025
1000Genomes	American	Sub	694	C=0.954	T=0.046
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.8770	T=0.1230
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.8804	T=0.1196
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.8703	T=0.1297
Genome-wide autozygosity in Daghestan	Global	Study-wide	1136	C=0.9577	T=0.0423
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	C=0.957	T=0.043
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	C=0.979	T=0.021
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	C=0.951	T=0.049
Genome-wide autozygosity in Daghestan	Europe	Sub	108	C=0.898	T=0.102
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	C=0.99	T=0.01
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	C=1.00	T=0.00
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.861	T=0.139
HapMap	Global	Study-wide	956	C=0.940	T=0.060
HapMap	American	Sub	600	C=0.930	T=0.070
HapMap	African	Sub	180	C=0.994	T=0.006
HapMap	Europe	Sub	176	C=0.920	T=0.080
CNV burdens in cranial meningiomas	Global	Study-wide	792	C=0.997	T=0.003
CNV burdens in cranial meningiomas	CRM	Sub	792	C=0.997	T=0.003
Northern Sweden	ACPOP	Study-wide	600	C=0.865	T=0.135
PharmGKB Aggregated	Global	Study-wide	550	C=0.969	T=0.031
PharmGKB Aggregated	PA149602302	Sub	358	C=0.975	T=0.025
PharmGKB Aggregated	PA143077804	Sub	96	C=0.96	T=0.04
PharmGKB Aggregated	PA144592541	Sub	96	C=0.96	T=0.04
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.944	T=0.056
FINRISK	Finnish from FINRISK project	Study-wide	304	C=0.855	T=0.145
Qatari	Global	Study-wide	216	C=0.977	T=0.023
The Danish reference pan genome	Danish	Study-wide	40	C=0.90	T=0.10
SGDP_PRJ	Global	Study-wide	22	C=0.45	T=0.55
Siberian	Global	Study-wide	4	C=0.5	T=0.5

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 7	NC_000007.14:g.99861633C>G
GRCh38.p14 chr 7	NC_000007.14:g.99861633C>T
GRCh37.p13 chr 7	NC_000007.13:g.99459256C>G
GRCh37.p13 chr 7	NC_000007.13:g.99459256C>T
CYP3A43 RefSeqGene	NG_007935.1:g.38621C>G
CYP3A43 RefSeqGene	NG_007935.1:g.38621C>T

Gene: CYP3A43, cytochrome P450 family 3 subfamily A member 43 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CYP3A43 transcript variant 2	NM_057095.3:c.1047C>G	A [GCC] > A [GCG]	Coding Sequence Variant
cytochrome P450 3A43 isoform 2	NP_476436.1:p.Ala349=	A (Ala) > A (Ala)	Synonymous Variant
CYP3A43 transcript variant 2	NM_057095.3:c.1047C>T	A [GCC] > A [GCT]	Coding Sequence Variant
cytochrome P450 3A43 isoform 2	NP_476436.1:p.Ala349=	A (Ala) > A (Ala)	Synonymous Variant
CYP3A43 transcript variant 4	NM_001278921.2:c.717C>G	A [GCC] > A [GCG]	Coding Sequence Variant
cytochrome P450 3A43 isoform 4	NP_001265850.1:p.Ala239=	A (Ala) > A (Ala)	Synonymous Variant
CYP3A43 transcript variant 4	NM_001278921.2:c.717C>T	A [GCC] > A [GCT]	Coding Sequence Variant
cytochrome P450 3A43 isoform 4	NP_001265850.1:p.Ala239=	A (Ala) > A (Ala)	Synonymous Variant
CYP3A43 transcript variant 1	NM_022820.5:c.1047C>G	A [GCC] > A [GCG]	Coding Sequence Variant
cytochrome P450 3A43 isoform 1	NP_073731.1:p.Ala349=	A (Ala) > A (Ala)	Synonymous Variant
CYP3A43 transcript variant 1	NM_022820.5:c.1047C>T	A [GCC] > A [GCT]	Coding Sequence Variant
cytochrome P450 3A43 isoform 1	NP_073731.1:p.Ala349=	A (Ala) > A (Ala)	Synonymous Variant
CYP3A43 transcript variant 3	NM_057096.4:c.1047C>G	A [GCC] > A [GCG]	Coding Sequence Variant
cytochrome P450 3A43 isoform 3	NP_476437.1:p.Ala349=	A (Ala) > A (Ala)	Synonymous Variant
CYP3A43 transcript variant 3	NM_057096.4:c.1047C>T	A [GCC] > A [GCT]	Coding Sequence Variant
cytochrome P450 3A43 isoform 3	NP_476437.1:p.Ala349=	A (Ala) > A (Ala)	Synonymous Variant
CYP3A43 transcript variant 5	NR_103868.2:n.1007C>G	N/A	Non Coding Transcript Variant
CYP3A43 transcript variant 5	NR_103868.2:n.1007C>T	N/A	Non Coding Transcript Variant
CYP3A43 transcript variant 6	NR_103869.2:n.1271C>G	N/A	Non Coding Transcript Variant
CYP3A43 transcript variant 6	NR_103869.2:n.1271C>T	N/A	Non Coding Transcript Variant
CYP3A43 transcript variant X1	XM_047420745.1:c.717C>G	A [GCC] > A [GCG]	Coding Sequence Variant
cytochrome P450 3A43 isoform X1	XP_047276701.1:p.Ala239=	A (Ala) > A (Ala)	Synonymous Variant
CYP3A43 transcript variant X1	XM_047420745.1:c.717C>T	A [GCC] > A [GCT]	Coding Sequence Variant
cytochrome P450 3A43 isoform X1	XP_047276701.1:p.Ala239=	A (Ala) > A (Ala)	Synonymous Variant
CYP3A43 transcript variant X2	XM_047420746.1:c.717C>G	A [GCC] > A [GCG]	Coding Sequence Variant
cytochrome P450 3A43 isoform X1	XP_047276702.1:p.Ala239=	A (Ala) > A (Ala)	Synonymous Variant
CYP3A43 transcript variant X2	XM_047420746.1:c.717C>T	A [GCC] > A [GCT]	Coding Sequence Variant
cytochrome P450 3A43 isoform X1	XP_047276702.1:p.Ala239=	A (Ala) > A (Ala)	Synonymous Variant
CYP3A43 transcript variant X3	XM_017012544.2:c.615C>G	A [GCC] > A [GCG]	Coding Sequence Variant
cytochrome P450 3A43 isoform X2	XP_016868033.1:p.Ala205=	A (Ala) > A (Ala)	Synonymous Variant
CYP3A43 transcript variant X3	XM_017012544.2:c.615C>T	A [GCC] > A [GCT]	Coding Sequence Variant
cytochrome P450 3A43 isoform X2	XP_016868033.1:p.Ala205=	A (Ala) > A (Ala)	Synonymous Variant
CYP3A43 transcript variant X4	XM_017012545.2:c.615C>G	A [GCC] > A [GCG]	Coding Sequence Variant
cytochrome P450 3A43 isoform X2	XP_016868034.1:p.Ala205=	A (Ala) > A (Ala)	Synonymous Variant
CYP3A43 transcript variant X4	XM_017012545.2:c.615C>T	A [GCC] > A [GCT]	Coding Sequence Variant
cytochrome P450 3A43 isoform X2	XP_016868034.1:p.Ala205=	A (Ala) > A (Ala)	Synonymous 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	C=	G	T
GRCh38.p14 chr 7	NC_000007.14:g.99861633=	NC_000007.14:g.99861633C>G	NC_000007.14:g.99861633C>T
GRCh37.p13 chr 7	NC_000007.13:g.99459256=	NC_000007.13:g.99459256C>G	NC_000007.13:g.99459256C>T
CYP3A43 RefSeqGene	NG_007935.1:g.38621=	NG_007935.1:g.38621C>G	NG_007935.1:g.38621C>T
CYP3A43 transcript variant 1	NM_022820.5:c.1047=	NM_022820.5:c.1047C>G	NM_022820.5:c.1047C>T
CYP3A43 transcript variant 1	NM_022820.4:c.1047=	NM_022820.4:c.1047C>G	NM_022820.4:c.1047C>T
CYP3A43 transcript variant 3	NM_057096.4:c.1047=	NM_057096.4:c.1047C>G	NM_057096.4:c.1047C>T
CYP3A43 transcript variant 3	NM_057096.3:c.1047=	NM_057096.3:c.1047C>G	NM_057096.3:c.1047C>T
CYP3A43 transcript variant 2	NM_057095.3:c.1047=	NM_057095.3:c.1047C>G	NM_057095.3:c.1047C>T
CYP3A43 transcript variant 2	NM_057095.2:c.1047=	NM_057095.2:c.1047C>G	NM_057095.2:c.1047C>T
CYP3A43 transcript variant 6	NR_103869.2:n.1271=	NR_103869.2:n.1271C>G	NR_103869.2:n.1271C>T
CYP3A43 transcript variant 6	NR_103869.1:n.1271=	NR_103869.1:n.1271C>G	NR_103869.1:n.1271C>T
CYP3A43 transcript variant 5	NR_103868.2:n.1007=	NR_103868.2:n.1007C>G	NR_103868.2:n.1007C>T
CYP3A43 transcript variant 5	NR_103868.1:n.1007=	NR_103868.1:n.1007C>G	NR_103868.1:n.1007C>T
CYP3A43 transcript variant 4	NM_001278921.2:c.717=	NM_001278921.2:c.717C>G	NM_001278921.2:c.717C>T
CYP3A43 transcript variant 4	NM_001278921.1:c.717=	NM_001278921.1:c.717C>G	NM_001278921.1:c.717C>T
CYP3A43 transcript variant X3	XM_017012544.2:c.615=	XM_017012544.2:c.615C>G	XM_017012544.2:c.615C>T
CYP3A43 transcript variant X2	XM_017012544.1:c.615=	XM_017012544.1:c.615C>G	XM_017012544.1:c.615C>T
CYP3A43 transcript variant X4	XM_017012545.2:c.615=	XM_017012545.2:c.615C>G	XM_017012545.2:c.615C>T
CYP3A43 transcript variant X3	XM_017012545.1:c.615=	XM_017012545.1:c.615C>G	XM_017012545.1:c.615C>T
CYP3A43 transcript variant X2	XM_047420746.1:c.717=	XM_047420746.1:c.717C>G	XM_047420746.1:c.717C>T
CYP3A43 transcript variant X1	XM_047420745.1:c.717=	XM_047420745.1:c.717C>G	XM_047420745.1:c.717C>T
cytochrome P450 3A43 isoform 1	NP_073731.1:p.Ala349=	NP_073731.1:p.Ala349=	NP_073731.1:p.Ala349=
cytochrome P450 3A43 isoform 3	NP_476437.1:p.Ala349=	NP_476437.1:p.Ala349=	NP_476437.1:p.Ala349=
cytochrome P450 3A43 isoform 2	NP_476436.1:p.Ala349=	NP_476436.1:p.Ala349=	NP_476436.1:p.Ala349=
cytochrome P450 3A43 isoform 4	NP_001265850.1:p.Ala239=	NP_001265850.1:p.Ala239=	NP_001265850.1:p.Ala239=
cytochrome P450 3A43 isoform X2	XP_016868033.1:p.Ala205=	XP_016868033.1:p.Ala205=	XP_016868033.1:p.Ala205=
cytochrome P450 3A43 isoform X2	XP_016868034.1:p.Ala205=	XP_016868034.1:p.Ala205=	XP_016868034.1:p.Ala205=
cytochrome P450 3A43 isoform X1	XP_047276702.1:p.Ala239=	XP_047276702.1:p.Ala239=	XP_047276702.1:p.Ala239=
cytochrome P450 3A43 isoform X1	XP_047276701.1:p.Ala239=	XP_047276701.1:p.Ala239=	XP_047276701.1:p.Ala239=

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#.

113 SubSNP, 26 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	PERLEGEN	ss24428946	Sep 20, 2004 (123)
2	APPLERA_GI	ss48417636	Mar 15, 2006 (126)
3	PHARMGKB_PAAR-UCHI	ss69367232	May 17, 2007 (127)
4	PHARMGKB_PAAR-UCHI	ss69367293	May 17, 2007 (127)
5	ILLUMINA	ss75078226	Dec 07, 2007 (129)
6	PHARMGKB_AB_DME	ss84157870	Dec 16, 2007 (130)
7	HUMANGENOME_JCVI	ss98321885	Feb 06, 2009 (130)
8	SNP500CANCER	ss105439781	Feb 06, 2009 (130)
9	KRIBB_YJKIM	ss119885311	Dec 01, 2009 (131)
10	ILLUMINA	ss153668247	Dec 01, 2009 (131)
11	ILLUMINA	ss159316395	Dec 01, 2009 (131)
12	SEATTLESEQ	ss159715240	Dec 01, 2009 (131)
13	ILLUMINA	ss160440325	Dec 01, 2009 (131)
14	COMPLETE_GENOMICS	ss162562874	Jul 04, 2010 (132)
15	ILLUMINA	ss172813429	Jul 04, 2010 (132)
16	BCM-HGSC-SUB	ss208054469	Jul 04, 2010 (132)
17	1000GENOMES	ss234093268	Jul 15, 2010 (132)
18	NHLBI-ESP	ss342240907	May 09, 2011 (134)
19	ILLUMINA	ss480230583	May 04, 2012 (137)
20	ILLUMINA	ss480241287	May 04, 2012 (137)
21	ILLUMINA	ss480977470	Sep 08, 2015 (146)
22	ILLUMINA	ss484913290	May 04, 2012 (137)
23	1000GENOMES	ss490949879	May 04, 2012 (137)
24	CLINSEQ_SNP	ss491910547	May 04, 2012 (137)
25	ILLUMINA	ss536965159	Sep 08, 2015 (146)
26	SSMP	ss654586247	Apr 25, 2013 (138)
27	ILLUMINA	ss778834031	Aug 21, 2014 (142)
28	ILLUMINA	ss782902959	Sep 08, 2015 (146)
29	ILLUMINA	ss783866279	Aug 21, 2014 (142)
30	ILLUMINA	ss832157776	Sep 08, 2015 (146)
31	ILLUMINA	ss832828438	Jul 13, 2019 (153)
32	ILLUMINA	ss834294511	Aug 21, 2014 (142)
33	EVA-GONL	ss984591323	Aug 21, 2014 (142)
34	1000GENOMES	ss1326342939	Aug 21, 2014 (142)
35	HAMMER_LAB	ss1397501537	Sep 08, 2015 (146)
36	DDI	ss1431222660	Apr 01, 2015 (144)
37	EVA_GENOME_DK	ss1582324954	Apr 01, 2015 (144)
38	EVA_FINRISK	ss1584053749	Apr 01, 2015 (144)
39	EVA_DECODE	ss1594170323	Apr 01, 2015 (144)
40	EVA_UK10K_ALSPAC	ss1618801773	Apr 01, 2015 (144)
41	EVA_UK10K_TWINSUK	ss1661795806	Apr 01, 2015 (144)
42	EVA_EXAC	ss1688842643	Apr 01, 2015 (144)
43	EVA_MGP	ss1711173279	Apr 01, 2015 (144)
44	EVA_SVP	ss1712974500	Apr 01, 2015 (144)
45	ILLUMINA	ss1752702809	Sep 08, 2015 (146)
46	WEILL_CORNELL_DGM	ss1927852364	Feb 12, 2016 (147)
47	ILLUMINA	ss1946215507	Feb 12, 2016 (147)
48	ILLUMINA	ss1959035809	Feb 12, 2016 (147)
49	JJLAB	ss2024608914	Sep 14, 2016 (149)
50	USC_VALOUEV	ss2152830783	Dec 20, 2016 (150)
51	HUMAN_LONGEVITY	ss2296205925	Dec 20, 2016 (150)
52	ILLUMINA	ss2634638480	Nov 08, 2017 (151)
53	ILLUMINA	ss2634638481	Nov 08, 2017 (151)
54	ILLUMINA	ss2711117473	Nov 08, 2017 (151)
55	GNOMAD	ss2736601049	Nov 08, 2017 (151)
56	GNOMAD	ss2747872454	Nov 08, 2017 (151)
57	GNOMAD	ss2856779428	Nov 08, 2017 (151)
58	AFFY	ss2985413809	Nov 08, 2017 (151)
59	AFFY	ss2986046055	Nov 08, 2017 (151)
60	SWEGEN	ss3001709352	Nov 08, 2017 (151)
61	ILLUMINA	ss3022760915	Nov 08, 2017 (151)
62	BIOINF_KMB_FNS_UNIBA	ss3026096775	Nov 08, 2017 (151)
63	CSHL	ss3347753062	Nov 08, 2017 (151)
64	ILLUMINA	ss3625934105	Oct 12, 2018 (152)
65	ILLUMINA	ss3629873328	Oct 12, 2018 (152)
66	ILLUMINA	ss3632544057	Oct 12, 2018 (152)
67	ILLUMINA	ss3633472217	Oct 12, 2018 (152)
68	ILLUMINA	ss3634197572	Oct 12, 2018 (152)
69	ILLUMINA	ss3635133101	Oct 12, 2018 (152)
70	ILLUMINA	ss3635877148	Oct 12, 2018 (152)
71	ILLUMINA	ss3636867497	Oct 12, 2018 (152)
72	ILLUMINA	ss3637630167	Oct 12, 2018 (152)
73	ILLUMINA	ss3638713233	Oct 12, 2018 (152)
74	ILLUMINA	ss3640840394	Oct 12, 2018 (152)
75	ILLUMINA	ss3643647807	Oct 12, 2018 (152)
76	ILLUMINA	ss3644948607	Oct 12, 2018 (152)
77	OMUKHERJEE_ADBS	ss3646359843	Oct 12, 2018 (152)
78	URBANLAB	ss3648711233	Oct 12, 2018 (152)
79	ILLUMINA	ss3653294939	Oct 12, 2018 (152)
80	ILLUMINA	ss3654175435	Oct 12, 2018 (152)
81	EGCUT_WGS	ss3669464426	Jul 13, 2019 (153)
82	EVA_DECODE	ss3720302923	Jul 13, 2019 (153)
83	ILLUMINA	ss3726465453	Jul 13, 2019 (153)
84	ACPOP	ss3734903213	Jul 13, 2019 (153)
85	ILLUMINA	ss3744293751	Jul 13, 2019 (153)
86	ILLUMINA	ss3745433127	Jul 13, 2019 (153)
87	EVA	ss3766926530	Jul 13, 2019 (153)
88	PAGE_CC	ss3771386453	Jul 13, 2019 (153)
89	ILLUMINA	ss3772925978	Jul 13, 2019 (153)
90	KHV_HUMAN_GENOMES	ss3810097899	Jul 13, 2019 (153)
91	EVA	ss3824296737	Apr 26, 2020 (154)
92	EVA	ss3825724481	Apr 26, 2020 (154)
93	EVA	ss3830722745	Apr 26, 2020 (154)
94	SGDP_PRJ	ss3867983825	Apr 26, 2020 (154)
95	EVA	ss3984592453	Apr 26, 2021 (155)
96	EVA	ss3986391042	Apr 26, 2021 (155)
97	TOPMED	ss4756608368	Apr 26, 2021 (155)
98	TOPMED	ss4756608369	Apr 26, 2021 (155)
99	EVA	ss5237426170	Apr 26, 2021 (155)
100	EVA	ss5237649669	Oct 17, 2022 (156)
101	1000G_HIGH_COVERAGE	ss5274035881	Oct 17, 2022 (156)
102	EVA	ss5375504837	Oct 17, 2022 (156)
103	HUGCELL_USP	ss5471006213	Oct 17, 2022 (156)
104	EVA	ss5509064850	Oct 17, 2022 (156)
105	1000G_HIGH_COVERAGE	ss5562819324	Oct 17, 2022 (156)
106	SANFORD_IMAGENETICS	ss5643589240	Oct 17, 2022 (156)
107	EVA	ss5799732178	Oct 17, 2022 (156)
108	EVA	ss5823257291	Oct 17, 2022 (156)
109	EVA	ss5848146924	Oct 17, 2022 (156)
110	EVA	ss5848687687	Oct 17, 2022 (156)
111	EVA	ss5860092359	Oct 17, 2022 (156)
112	EVA	ss5972774065	Oct 17, 2022 (156)
113	EVA	ss5979835220	Oct 17, 2022 (156)
114	1000Genomes	NC_000007.13 - 99459256	Oct 12, 2018 (152)
115	1000Genomes_30x	NC_000007.14 - 99861633	Oct 17, 2022 (156)
116	The Avon Longitudinal Study of Parents and Children	NC_000007.13 - 99459256	Oct 12, 2018 (152)
117	Genome-wide autozygosity in Daghestan	NC_000007.12 - 99297192	Apr 26, 2020 (154)
118	Genetic variation in the Estonian population	NC_000007.13 - 99459256	Oct 12, 2018 (152)
119	ExAC	NC_000007.13 - 99459256	Oct 12, 2018 (152)
120	FINRISK	NC_000007.13 - 99459256	Apr 26, 2020 (154)
121	The Danish reference pan genome	NC_000007.13 - 99459256	Apr 26, 2020 (154)
122	gnomAD - Genomes Submission ignored due to conflicting rows: Row 270673577 (NC_000007.14:99861632:C:G 1/140164) Row 270673578 (NC_000007.14:99861632:C:T 10472/140152)	-	Apr 26, 2021 (155)
123	gnomAD - Genomes Submission ignored due to conflicting rows: Row 270673577 (NC_000007.14:99861632:C:G 1/140164) Row 270673578 (NC_000007.14:99861632:C:T 10472/140152)	-	Apr 26, 2021 (155)
124	gnomAD - Exomes	NC_000007.13 - 99459256	Jul 13, 2019 (153)
125	GO Exome Sequencing Project	NC_000007.13 - 99459256	Oct 12, 2018 (152)
126	Genome of the Netherlands Release 5	NC_000007.13 - 99459256	Apr 26, 2020 (154)
127	HapMap	NC_000007.14 - 99861633	Apr 26, 2020 (154)
128	Medical Genome Project healthy controls from Spanish population	NC_000007.13 - 99459256	Apr 26, 2020 (154)
129	Northern Sweden	NC_000007.13 - 99459256	Jul 13, 2019 (153)
130	The PAGE Study	NC_000007.14 - 99861633	Jul 13, 2019 (153)
131	CNV burdens in cranial meningiomas	NC_000007.13 - 99459256	Apr 26, 2021 (155)
132	PharmGKB Aggregated	NC_000007.14 - 99861633	Apr 26, 2020 (154)
133	Qatari	NC_000007.13 - 99459256	Apr 26, 2020 (154)
134	SGDP_PRJ	NC_000007.13 - 99459256	Apr 26, 2020 (154)
135	Siberian	NC_000007.13 - 99459256	Apr 26, 2020 (154)
136	TopMed Submission ignored due to conflicting rows: Row 593985927 (NC_000007.14:99861632:C:G 1/264690) Row 593985928 (NC_000007.14:99861632:C:T 16920/264690)	-	Apr 26, 2021 (155)
137	TopMed Submission ignored due to conflicting rows: Row 593985927 (NC_000007.14:99861632:C:G 1/264690) Row 593985928 (NC_000007.14:99861632:C:T 16920/264690)	-	Apr 26, 2021 (155)
138	UK 10K study - Twins	NC_000007.13 - 99459256	Oct 12, 2018 (152)
139	ALFA	NC_000007.14 - 99861633	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)
rs61440376	May 26, 2008 (130)
rs386543442	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
11522006732, ss4756608368	NC_000007.14:99861632:C:G	NC_000007.14:99861632:C:G	(self)
475627, ss162562874, ss208054469, ss480230583, ss491910547, ss1397501537, ss1594170323, ss1712974500, ss3643647807	NC_000007.12:99297191:C:T	NC_000007.14:99861632:C:T	(self)
38356984, 21343592, 15202674, 8916565, 50210, 8489893, 5765552, 754681, 9528143, 289039, 8188078, 141881, 9894294, 20000805, 5347137, 21343592, ss234093268, ss342240907, ss480241287, ss480977470, ss484913290, ss490949879, ss536965159, ss654586247, ss778834031, ss782902959, ss783866279, ss832157776, ss832828438, ss834294511, ss984591323, ss1326342939, ss1431222660, ss1582324954, ss1584053749, ss1618801773, ss1661795806, ss1688842643, ss1711173279, ss1752702809, ss1927852364, ss1946215507, ss1959035809, ss2024608914, ss2152830783, ss2634638480, ss2634638481, ss2711117473, ss2736601049, ss2747872454, ss2856779428, ss2985413809, ss2986046055, ss3001709352, ss3022760915, ss3347753062, ss3625934105, ss3629873328, ss3632544057, ss3633472217, ss3634197572, ss3635133101, ss3635877148, ss3636867497, ss3637630167, ss3638713233, ss3640840394, ss3644948607, ss3646359843, ss3653294939, ss3654175435, ss3669464426, ss3734903213, ss3744293751, ss3745433127, ss3766926530, ss3772925978, ss3824296737, ss3825724481, ss3830722745, ss3867983825, ss3984592453, ss3986391042, ss5237426170, ss5375504837, ss5509064850, ss5643589240, ss5799732178, ss5823257291, ss5848146924, ss5848687687, ss5972774065, ss5979835220	NC_000007.13:99459255:C:T	NC_000007.14:99861632:C:T	(self)
50345259, 3455504, 607922, 11848, 11522006732, ss2296205925, ss3026096775, ss3648711233, ss3720302923, ss3726465453, ss3771386453, ss3810097899, ss4756608369, ss5237649669, ss5274035881, ss5471006213, ss5562819324, ss5860092359	NC_000007.14:99861632:C:T	NC_000007.14:99861632:C:T	(self)
ss24428946, ss48417636, ss69367232, ss69367293, ss75078226, ss84157870, ss98321885, ss105439781, ss119885311, ss153668247, ss159316395, ss159715240, ss160440325, ss172813429	NT_007933.15:37492098:C:T	NC_000007.14:99861632:C: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 rs17342647

PMID	Title	Author	Year	Journal
30093869	Biological Predictors of Clozapine Response: A Systematic Review.	Samanaite R et al.	2018	Frontiers in psychiatry

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

rs17342647