Name: rs9332459
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.

rs9332459

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr9:113978212 (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
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.441845 (116952/264690, TOPMED)
G=0.447128 (62639/140092, GnomAD)
G=0.41658 (31666/76014, ALFA) (+ 19 more)
A=0.27953 (7899/28258, 14KJPN)
A=0.28109 (4711/16760, 8.3KJPN)
G=0.4582 (2934/6404, 1000G_30x)
G=0.4615 (2311/5008, 1000G)
A=0.4846 (2171/4480, Estonian)
G=0.4019 (1549/3854, ALSPAC)
G=0.3935 (1459/3708, TWINSUK)
A=0.3065 (898/2930, KOREAN)
G=0.4246 (884/2082, HGDP_Stanford)
G=0.4804 (909/1892, HapMap)
A=0.2893 (530/1832, Korea1K)
G=0.399 (398/998, GoNL)
G=0.462 (277/600, NorthernSweden)
G=0.279 (120/430, SGDP_PRJ)
G=0.296 (64/216, Qatari)
A=0.310 (65/210, Vietnamese)
G=0.41 (34/82, Ancient Sardinia)
G=0.32 (14/44, Siberian)
G=0.35 (14/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ZNF618 : Intron 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	76014	G=0.41658	A=0.58342
European	Sub	59730	G=0.41373	A=0.58627
African	Sub	5204	G=0.4962	A=0.5038
African Others	Sub	182	G=0.522	A=0.478
African American	Sub	5022	G=0.4952	A=0.5048
Asian	Sub	238	G=0.601	A=0.399
East Asian	Sub	164	G=0.652	A=0.348
Other Asian	Sub	74	G=0.49	A=0.51
Latin American 1	Sub	400	G=0.417	A=0.583
Latin American 2	Sub	3392	G=0.3948	A=0.6052
South Asian	Sub	4964	G=0.3683	A=0.6317
Other	Sub	2086	G=0.4291	A=0.5709

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=0.441845	A=0.558155
gnomAD - Genomes	Global	Study-wide	140092	G=0.447128	A=0.552872
gnomAD - Genomes	European	Sub	75868	G=0.42074	A=0.57926
gnomAD - Genomes	African	Sub	41970	G=0.50293	A=0.49707
gnomAD - Genomes	American	Sub	13654	G=0.40091	A=0.59909
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	G=0.3543	A=0.6457
gnomAD - Genomes	East Asian	Sub	3128	G=0.6541	A=0.3459
gnomAD - Genomes	Other	Sub	2150	G=0.4247	A=0.5753
Allele Frequency Aggregator	Total	Global	76014	G=0.41658	A=0.58342
Allele Frequency Aggregator	European	Sub	59730	G=0.41373	A=0.58627
Allele Frequency Aggregator	African	Sub	5204	G=0.4962	A=0.5038
Allele Frequency Aggregator	South Asian	Sub	4964	G=0.3683	A=0.6317
Allele Frequency Aggregator	Latin American 2	Sub	3392	G=0.3948	A=0.6052
Allele Frequency Aggregator	Other	Sub	2086	G=0.4291	A=0.5709
Allele Frequency Aggregator	Latin American 1	Sub	400	G=0.417	A=0.583
Allele Frequency Aggregator	Asian	Sub	238	G=0.601	A=0.399
14KJPN	JAPANESE	Study-wide	28258	G=0.72047	A=0.27953
8.3KJPN	JAPANESE	Study-wide	16760	G=0.71891	A=0.28109
1000Genomes_30x	Global	Study-wide	6404	G=0.4582	A=0.5418
1000Genomes_30x	African	Sub	1786	G=0.5022	A=0.4978
1000Genomes_30x	Europe	Sub	1266	G=0.3934	A=0.6066
1000Genomes_30x	South Asian	Sub	1202	G=0.3611	A=0.6389
1000Genomes_30x	East Asian	Sub	1170	G=0.6496	A=0.3504
1000Genomes_30x	American	Sub	980	G=0.352	A=0.648
1000Genomes	Global	Study-wide	5008	G=0.4615	A=0.5385
1000Genomes	African	Sub	1322	G=0.5030	A=0.4970
1000Genomes	East Asian	Sub	1008	G=0.6419	A=0.3581
1000Genomes	Europe	Sub	1006	G=0.3917	A=0.6083
1000Genomes	South Asian	Sub	978	G=0.368	A=0.632
1000Genomes	American	Sub	694	G=0.353	A=0.647
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.5154	A=0.4846
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.4019	A=0.5981
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.3935	A=0.6065
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.6935	A=0.3065
HGDP-CEPH-db Supplement 1	Global	Study-wide	2082	G=0.4246	A=0.5754
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	468	G=0.626	A=0.374
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	G=0.348	A=0.652
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	G=0.243	A=0.757
HGDP-CEPH-db Supplement 1	Europe	Sub	320	G=0.406	A=0.594
HGDP-CEPH-db Supplement 1	Africa	Sub	242	G=0.500	A=0.500
HGDP-CEPH-db Supplement 1	America	Sub	216	G=0.417	A=0.583
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	G=0.29	A=0.71
HapMap	Global	Study-wide	1892	G=0.4804	A=0.5196
HapMap	American	Sub	770	G=0.445	A=0.555
HapMap	African	Sub	692	G=0.470	A=0.530
HapMap	Asian	Sub	254	G=0.720	A=0.280
HapMap	Europe	Sub	176	G=0.330	A=0.670
Korean Genome Project	KOREAN	Study-wide	1832	G=0.7107	A=0.2893
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.399	A=0.601
Northern Sweden	ACPOP	Study-wide	600	G=0.462	A=0.538
SGDP_PRJ	Global	Study-wide	430	G=0.279	A=0.721
Qatari	Global	Study-wide	216	G=0.296	A=0.704
A Vietnamese Genetic Variation Database	Global	Study-wide	210	G=0.690	A=0.310
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	82	G=0.41	A=0.59
Siberian	Global	Study-wide	44	G=0.32	A=0.68
The Danish reference pan genome	Danish	Study-wide	40	G=0.35	A=0.65

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 9	NC_000009.12:g.113978212G>A
GRCh37.p13 chr 9	NC_000009.11:g.116740492G>A

Gene: ZNF618, zinc finger protein 618 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ZNF618 transcript variant 2	NM_001318040.2:c.77+9052G… NM_001318040.2:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant 3	NM_001318041.2:c.77+9052G… NM_001318041.2:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant 4	NM_001318042.2:c.77+9052G… NM_001318042.2:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant 1	NM_133374.3:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant X1	XM_005251692.4:c.77+9052G… XM_005251692.4:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant X35	XM_005251699.4:c.77+9052G… XM_005251699.4:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant X3	XM_011518200.3:c.77+9052G… XM_011518200.3:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant X6	XM_011518201.3:c.77+9052G… XM_011518201.3:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant X10	XM_011518203.4:c.77+9052G… XM_011518203.4:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant X18	XM_011518204.4:c.77+9052G… XM_011518204.4:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant X2	XM_017014241.3:c.77+9052G… XM_017014241.3:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant X4	XM_017014242.3:c.77+9052G… XM_017014242.3:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant X5	XM_017014243.3:c.77+9052G… XM_017014243.3:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant X13	XM_017014244.3:c.77+9052G… XM_017014244.3:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant X15	XM_017014245.3:c.77+9052G… XM_017014245.3:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant X17	XM_017014246.3:c.77+9052G… XM_017014246.3:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant X26	XM_017014248.3:c.77+9052G… XM_017014248.3:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant X27	XM_017014249.3:c.77+9052G… XM_017014249.3:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant X30	XM_017014250.3:c.77+9052G… XM_017014250.3:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant X34	XM_017014252.3:c.77+9052G… XM_017014252.3:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant X7	XM_047422717.1:c.77+9052G… XM_047422717.1:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant X8	XM_047422718.1:c.77+9052G… XM_047422718.1:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant X9	XM_047422719.1:c.77+9052G… XM_047422719.1:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant X11	XM_047422720.1:c.77+9052G… XM_047422720.1:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant X12	XM_047422721.1:c.77+9052G… XM_047422721.1:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant X14	XM_047422722.1:c.77+9052G… XM_047422722.1:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant X16	XM_047422723.1:c.77+9052G… XM_047422723.1:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant X19	XM_047422724.1:c.77+9052G… XM_047422724.1:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant X20	XM_047422725.1:c.77+9052G… XM_047422725.1:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant X21	XM_047422726.1:c.77+9052G… XM_047422726.1:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant X22	XM_047422727.1:c.77+9052G… XM_047422727.1:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant X23	XM_047422728.1:c.77+9052G… XM_047422728.1:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant X24	XM_047422729.1:c.77+9052G… XM_047422729.1:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant X25	XM_047422730.1:c.77+9052G… XM_047422730.1:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant X28	XM_047422731.1:c.77+9052G… XM_047422731.1:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant X29	XM_047422732.1:c.77+9052G… XM_047422732.1:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant X31	XM_047422733.1:c.77+9052G… XM_047422733.1:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant X32	XM_047422734.1:c.77+9052G… XM_047422734.1:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant X33	XM_047422735.1:c.77+9052G… XM_047422735.1:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant X36	XM_047422736.1:c.77+9052G… XM_047422736.1:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant X37	XM_047422737.1:c.77+9052G… XM_047422737.1:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant X38	XM_047422738.1:c.77+9052G… XM_047422738.1:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant X39	XM_047422739.1:c.77+9052G… XM_047422739.1:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant X40	XM_047422740.1:c.77+9052G… XM_047422740.1:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant X41	XM_047422741.1:c.77+9052G… XM_047422741.1:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant X42	XM_047422742.1:c.77+9052G… XM_047422742.1:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant X43	XM_047422743.1:c.77+9052G… XM_047422743.1:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant X44	XM_047422744.1:c.77+9052G… XM_047422744.1:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant X45	XM_047422745.1:c.77+9052G… XM_047422745.1:c.77+9052G>A	N/A	Intron Variant
ZNF618 transcript variant X46	XM_047422746.1:c.77+9052G… XM_047422746.1:c.77+9052G>A	N/A	Intron 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
GRCh38.p14 chr 9	NC_000009.12:g.113978212=	NC_000009.12:g.113978212G>A
GRCh37.p13 chr 9	NC_000009.11:g.116740492=	NC_000009.11:g.116740492G>A
ZNF618 transcript variant 2	NM_001318040.2:c.77+9052=	NM_001318040.2:c.77+9052G>A
ZNF618 transcript variant 3	NM_001318041.2:c.77+9052=	NM_001318041.2:c.77+9052G>A
ZNF618 transcript variant 4	NM_001318042.2:c.77+9052=	NM_001318042.2:c.77+9052G>A
ZNF618 transcript variant 1	NM_133374.2:c.77+9052=	NM_133374.2:c.77+9052G>A
ZNF618 transcript variant 1	NM_133374.3:c.77+9052=	NM_133374.3:c.77+9052G>A
ZNF618 transcript variant X1	XM_005251692.1:c.77+9052=	XM_005251692.1:c.77+9052G>A
ZNF618 transcript variant X1	XM_005251692.4:c.77+9052=	XM_005251692.4:c.77+9052G>A
ZNF618 transcript variant X2	XM_005251693.1:c.77+9052=	XM_005251693.1:c.77+9052G>A
ZNF618 transcript variant X3	XM_005251694.1:c.77+9052=	XM_005251694.1:c.77+9052G>A
ZNF618 transcript variant X4	XM_005251695.1:c.77+9052=	XM_005251695.1:c.77+9052G>A
ZNF618 transcript variant X5	XM_005251696.1:c.77+9052=	XM_005251696.1:c.77+9052G>A
ZNF618 transcript variant X6	XM_005251697.1:c.77+9052=	XM_005251697.1:c.77+9052G>A
ZNF618 transcript variant X7	XM_005251698.1:c.77+9052=	XM_005251698.1:c.77+9052G>A
ZNF618 transcript variant X8	XM_005251699.1:c.77+9052=	XM_005251699.1:c.77+9052G>A
ZNF618 transcript variant X35	XM_005251699.4:c.77+9052=	XM_005251699.4:c.77+9052G>A
ZNF618 transcript variant X3	XM_011518200.3:c.77+9052=	XM_011518200.3:c.77+9052G>A
ZNF618 transcript variant X6	XM_011518201.3:c.77+9052=	XM_011518201.3:c.77+9052G>A
ZNF618 transcript variant X10	XM_011518203.4:c.77+9052=	XM_011518203.4:c.77+9052G>A
ZNF618 transcript variant X18	XM_011518204.4:c.77+9052=	XM_011518204.4:c.77+9052G>A
ZNF618 transcript variant X2	XM_017014241.3:c.77+9052=	XM_017014241.3:c.77+9052G>A
ZNF618 transcript variant X4	XM_017014242.3:c.77+9052=	XM_017014242.3:c.77+9052G>A
ZNF618 transcript variant X5	XM_017014243.3:c.77+9052=	XM_017014243.3:c.77+9052G>A
ZNF618 transcript variant X13	XM_017014244.3:c.77+9052=	XM_017014244.3:c.77+9052G>A
ZNF618 transcript variant X15	XM_017014245.3:c.77+9052=	XM_017014245.3:c.77+9052G>A
ZNF618 transcript variant X17	XM_017014246.3:c.77+9052=	XM_017014246.3:c.77+9052G>A
ZNF618 transcript variant X26	XM_017014248.3:c.77+9052=	XM_017014248.3:c.77+9052G>A
ZNF618 transcript variant X27	XM_017014249.3:c.77+9052=	XM_017014249.3:c.77+9052G>A
ZNF618 transcript variant X30	XM_017014250.3:c.77+9052=	XM_017014250.3:c.77+9052G>A
ZNF618 transcript variant X34	XM_017014252.3:c.77+9052=	XM_017014252.3:c.77+9052G>A
ZNF618 transcript variant X7	XM_047422717.1:c.77+9052=	XM_047422717.1:c.77+9052G>A
ZNF618 transcript variant X8	XM_047422718.1:c.77+9052=	XM_047422718.1:c.77+9052G>A
ZNF618 transcript variant X9	XM_047422719.1:c.77+9052=	XM_047422719.1:c.77+9052G>A
ZNF618 transcript variant X11	XM_047422720.1:c.77+9052=	XM_047422720.1:c.77+9052G>A
ZNF618 transcript variant X12	XM_047422721.1:c.77+9052=	XM_047422721.1:c.77+9052G>A
ZNF618 transcript variant X14	XM_047422722.1:c.77+9052=	XM_047422722.1:c.77+9052G>A
ZNF618 transcript variant X16	XM_047422723.1:c.77+9052=	XM_047422723.1:c.77+9052G>A
ZNF618 transcript variant X19	XM_047422724.1:c.77+9052=	XM_047422724.1:c.77+9052G>A
ZNF618 transcript variant X20	XM_047422725.1:c.77+9052=	XM_047422725.1:c.77+9052G>A
ZNF618 transcript variant X21	XM_047422726.1:c.77+9052=	XM_047422726.1:c.77+9052G>A
ZNF618 transcript variant X22	XM_047422727.1:c.77+9052=	XM_047422727.1:c.77+9052G>A
ZNF618 transcript variant X23	XM_047422728.1:c.77+9052=	XM_047422728.1:c.77+9052G>A
ZNF618 transcript variant X24	XM_047422729.1:c.77+9052=	XM_047422729.1:c.77+9052G>A
ZNF618 transcript variant X25	XM_047422730.1:c.77+9052=	XM_047422730.1:c.77+9052G>A
ZNF618 transcript variant X28	XM_047422731.1:c.77+9052=	XM_047422731.1:c.77+9052G>A
ZNF618 transcript variant X29	XM_047422732.1:c.77+9052=	XM_047422732.1:c.77+9052G>A
ZNF618 transcript variant X31	XM_047422733.1:c.77+9052=	XM_047422733.1:c.77+9052G>A
ZNF618 transcript variant X32	XM_047422734.1:c.77+9052=	XM_047422734.1:c.77+9052G>A
ZNF618 transcript variant X33	XM_047422735.1:c.77+9052=	XM_047422735.1:c.77+9052G>A
ZNF618 transcript variant X36	XM_047422736.1:c.77+9052=	XM_047422736.1:c.77+9052G>A
ZNF618 transcript variant X37	XM_047422737.1:c.77+9052=	XM_047422737.1:c.77+9052G>A
ZNF618 transcript variant X38	XM_047422738.1:c.77+9052=	XM_047422738.1:c.77+9052G>A
ZNF618 transcript variant X39	XM_047422739.1:c.77+9052=	XM_047422739.1:c.77+9052G>A
ZNF618 transcript variant X40	XM_047422740.1:c.77+9052=	XM_047422740.1:c.77+9052G>A
ZNF618 transcript variant X41	XM_047422741.1:c.77+9052=	XM_047422741.1:c.77+9052G>A
ZNF618 transcript variant X42	XM_047422742.1:c.77+9052=	XM_047422742.1:c.77+9052G>A
ZNF618 transcript variant X43	XM_047422743.1:c.77+9052=	XM_047422743.1:c.77+9052G>A
ZNF618 transcript variant X44	XM_047422744.1:c.77+9052=	XM_047422744.1:c.77+9052G>A
ZNF618 transcript variant X45	XM_047422745.1:c.77+9052=	XM_047422745.1:c.77+9052G>A
ZNF618 transcript variant X46	XM_047422746.1:c.77+9052=	XM_047422746.1:c.77+9052G>A

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, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	PERLEGEN	ss12674031	Dec 05, 2003 (119)
2	SC_SNP	ss16005047	Feb 27, 2004 (120)
3	CSHL-HAPMAP	ss17273810	Feb 27, 2004 (120)
4	SSAHASNP	ss22865120	Apr 05, 2004 (121)
5	PERLEGEN	ss23522449	Sep 20, 2004 (123)
6	ABI	ss43781127	Mar 14, 2006 (126)
7	AFFY	ss65977410	Dec 02, 2006 (127)
8	AFFY	ss66363181	Dec 02, 2006 (127)
9	ILLUMINA	ss66727391	Dec 02, 2006 (127)
10	ILLUMINA	ss67906841	Dec 02, 2006 (127)
11	ILLUMINA	ss68036563	Dec 02, 2006 (127)
12	PERLEGEN	ss69301081	May 18, 2007 (127)
13	ILLUMINA	ss71601223	May 18, 2007 (127)
14	ILLUMINA	ss75630900	Dec 07, 2007 (129)
15	AFFY	ss76083328	Dec 07, 2007 (129)
16	HGSV	ss77731305	Dec 07, 2007 (129)
17	ILLUMINA	ss79293410	Dec 14, 2007 (130)
18	KRIBB_YJKIM	ss84806214	Dec 14, 2007 (130)
19	HGSV	ss84858003	Dec 14, 2007 (130)
20	HUMANGENOME_JCVI	ss97826004	Feb 04, 2009 (130)
21	ILLUMINA	ss98248351	May 24, 2008 (130)
22	1000GENOMES	ss114973059	Jan 25, 2009 (130)
23	ILLUMINA-UK	ss115788424	Feb 14, 2009 (130)
24	ILLUMINA	ss122974144	Dec 01, 2009 (131)
25	ENSEMBL	ss134256847	Dec 01, 2009 (131)
26	ILLUMINA	ss154488060	Dec 01, 2009 (131)
27	ILLUMINA	ss159662174	Dec 01, 2009 (131)
28	COMPLETE_GENOMICS	ss164734338	Jul 04, 2010 (132)
29	COMPLETE_GENOMICS	ss165721231	Jul 04, 2010 (132)
30	COMPLETE_GENOMICS	ss166858971	Jul 04, 2010 (132)
31	AFFY	ss172443704	Jul 04, 2010 (132)
32	ILLUMINA	ss172450566	Jul 04, 2010 (132)
33	ILLUMINA	ss174814942	Jul 04, 2010 (132)
34	BUSHMAN	ss200798701	Jul 04, 2010 (132)
35	BCM-HGSC-SUB	ss206636920	Jul 04, 2010 (132)
36	1000GENOMES	ss210744597	Jul 14, 2010 (132)
37	1000GENOMES	ss224417887	Jul 14, 2010 (132)
38	1000GENOMES	ss234946100	Jul 15, 2010 (132)
39	1000GENOMES	ss241697468	Jul 15, 2010 (132)
40	BL	ss254499158	May 09, 2011 (134)
41	GMI	ss280375198	May 04, 2012 (137)
42	GMI	ss286081775	Apr 25, 2013 (138)
43	PJP	ss294358213	May 09, 2011 (134)
44	ILLUMINA	ss537588128	Sep 08, 2015 (146)
45	TISHKOFF	ss561591025	Apr 25, 2013 (138)
46	SSMP	ss656088047	Apr 25, 2013 (138)
47	ILLUMINA	ss825623928	Apr 01, 2015 (144)
48	ILLUMINA	ss833172943	Jul 13, 2019 (153)
49	EVA-GONL	ss986911090	Aug 21, 2014 (142)
50	JMKIDD_LAB	ss1076558181	Aug 21, 2014 (142)
51	1000GENOMES	ss1335187495	Aug 21, 2014 (142)
52	DDI	ss1431941838	Apr 01, 2015 (144)
53	EVA_GENOME_DK	ss1583233377	Apr 01, 2015 (144)
54	EVA_DECODE	ss1596549870	Apr 01, 2015 (144)
55	EVA_UK10K_ALSPAC	ss1623418889	Apr 01, 2015 (144)
56	EVA_UK10K_TWINSUK	ss1666412922	Apr 01, 2015 (144)
57	EVA_SVP	ss1713135200	Apr 01, 2015 (144)
58	HAMMER_LAB	ss1806132206	Sep 08, 2015 (146)
59	WEILL_CORNELL_DGM	ss1930225269	Feb 12, 2016 (147)
60	GENOMED	ss1971292996	Jul 19, 2016 (147)
61	JJLAB	ss2025834350	Sep 14, 2016 (149)
62	USC_VALOUEV	ss2154063236	Dec 20, 2016 (150)
63	HUMAN_LONGEVITY	ss2313866024	Dec 20, 2016 (150)
64	SYSTEMSBIOZJU	ss2627384227	Nov 08, 2017 (151)
65	GRF	ss2709942669	Nov 08, 2017 (151)
66	GNOMAD	ss2882447081	Nov 08, 2017 (151)
67	SWEGEN	ss3005483453	Nov 08, 2017 (151)
68	BIOINF_KMB_FNS_UNIBA	ss3026699697	Nov 08, 2017 (151)
69	CSHL	ss3348829207	Nov 08, 2017 (151)
70	ILLUMINA	ss3630339807	Oct 12, 2018 (152)
71	ILLUMINA	ss3638831794	Oct 12, 2018 (152)
72	ILLUMINA	ss3639421527	Oct 12, 2018 (152)
73	ILLUMINA	ss3639744495	Oct 12, 2018 (152)
74	ILLUMINA	ss3643757327	Oct 12, 2018 (152)
75	URBANLAB	ss3649225590	Oct 12, 2018 (152)
76	EGCUT_WGS	ss3673022626	Jul 13, 2019 (153)
77	EVA_DECODE	ss3724618978	Jul 13, 2019 (153)
78	ACPOP	ss3736819494	Jul 13, 2019 (153)
79	EVA	ss3769606211	Jul 13, 2019 (153)
80	KHV_HUMAN_GENOMES	ss3812773789	Jul 13, 2019 (153)
81	EVA	ss3831827201	Apr 26, 2020 (154)
82	EVA	ss3839442307	Apr 26, 2020 (154)
83	EVA	ss3844906783	Apr 26, 2020 (154)
84	HGDP	ss3847960211	Apr 26, 2020 (154)
85	SGDP_PRJ	ss3872932186	Apr 26, 2020 (154)
86	KRGDB	ss3920790958	Apr 26, 2020 (154)
87	KOGIC	ss3966607189	Apr 26, 2020 (154)
88	EVA	ss3985440413	Apr 26, 2021 (155)
89	EVA	ss4017455117	Apr 26, 2021 (155)
90	TOPMED	ss4833259511	Apr 26, 2021 (155)
91	TOMMO_GENOMICS	ss5194989723	Apr 26, 2021 (155)
92	1000G_HIGH_COVERAGE	ss5281946908	Oct 16, 2022 (156)
93	EVA	ss5389817121	Oct 16, 2022 (156)
94	HUGCELL_USP	ss5477836796	Oct 16, 2022 (156)
95	1000G_HIGH_COVERAGE	ss5574885817	Oct 16, 2022 (156)
96	SANFORD_IMAGENETICS	ss5648135645	Oct 16, 2022 (156)
97	TOMMO_GENOMICS	ss5739428087	Oct 16, 2022 (156)
98	YY_MCH	ss5810947320	Oct 16, 2022 (156)
99	EVA	ss5829657170	Oct 16, 2022 (156)
100	EVA	ss5856908483	Oct 16, 2022 (156)
101	EVA	ss5917753853	Oct 16, 2022 (156)
102	EVA	ss5977336994	Oct 16, 2022 (156)
103	1000Genomes	NC_000009.11 - 116740492	Oct 12, 2018 (152)
104	1000Genomes_30x	NC_000009.12 - 113978212	Oct 16, 2022 (156)
105	The Avon Longitudinal Study of Parents and Children	NC_000009.11 - 116740492	Oct 12, 2018 (152)
106	Genetic variation in the Estonian population	NC_000009.11 - 116740492	Oct 12, 2018 (152)
107	The Danish reference pan genome	NC_000009.11 - 116740492	Apr 26, 2020 (154)
108	gnomAD - Genomes	NC_000009.12 - 113978212	Apr 26, 2021 (155)
109	Genome of the Netherlands Release 5	NC_000009.11 - 116740492	Apr 26, 2020 (154)
110	HGDP-CEPH-db Supplement 1	NC_000009.10 - 115780313	Apr 26, 2020 (154)
111	HapMap	NC_000009.12 - 113978212	Apr 26, 2020 (154)
112	KOREAN population from KRGDB	NC_000009.11 - 116740492	Apr 26, 2020 (154)
113	Korean Genome Project	NC_000009.12 - 113978212	Apr 26, 2020 (154)
114	Northern Sweden	NC_000009.11 - 116740492	Jul 13, 2019 (153)
115	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000009.11 - 116740492	Apr 26, 2021 (155)
116	Qatari	NC_000009.11 - 116740492	Apr 26, 2020 (154)
117	SGDP_PRJ	NC_000009.11 - 116740492	Apr 26, 2020 (154)
118	Siberian	NC_000009.11 - 116740492	Apr 26, 2020 (154)
119	8.3KJPN	NC_000009.11 - 116740492	Apr 26, 2021 (155)
120	14KJPN	NC_000009.12 - 113978212	Oct 16, 2022 (156)
121	TopMed	NC_000009.12 - 113978212	Apr 26, 2021 (155)
122	UK 10K study - Twins	NC_000009.11 - 116740492	Oct 12, 2018 (152)
123	A Vietnamese Genetic Variation Database	NC_000009.11 - 116740492	Jul 13, 2019 (153)
124	ALFA	NC_000009.12 - 113978212	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)
rs57764700	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss77731305, ss84858003, ss3639421527, ss3639744495	NC_000009.9:113820045:G:A	NC_000009.12:113978211:G:A	(self)
638103, ss66363181, ss76083328, ss114973059, ss115788424, ss164734338, ss165721231, ss166858971, ss172443704, ss200798701, ss206636920, ss210744597, ss254499158, ss280375198, ss286081775, ss294358213, ss825623928, ss1596549870, ss1713135200, ss3643757327, ss3847960211	NC_000009.10:115780312:G:A	NC_000009.12:113978211:G:A	(self)
47496313, 26390203, 18760874, 9398314, 11778320, 27968352, 10104359, 666340, 12267199, 24949166, 6579590, 52959030, 26390203, 5862725, ss224417887, ss234946100, ss241697468, ss537588128, ss561591025, ss656088047, ss833172943, ss986911090, ss1076558181, ss1335187495, ss1431941838, ss1583233377, ss1623418889, ss1666412922, ss1806132206, ss1930225269, ss1971292996, ss2025834350, ss2154063236, ss2627384227, ss2709942669, ss2882447081, ss3005483453, ss3348829207, ss3630339807, ss3638831794, ss3673022626, ss3736819494, ss3769606211, ss3831827201, ss3839442307, ss3872932186, ss3920790958, ss3985440413, ss4017455117, ss5194989723, ss5389817121, ss5648135645, ss5829657170, ss5977336994	NC_000009.11:116740491:G:A	NC_000009.12:113978211:G:A	(self)
62411752, 335690780, 3903098, 22985190, 73265191, 670637072, 11087365784, ss2313866024, ss3026699697, ss3649225590, ss3724618978, ss3812773789, ss3844906783, ss3966607189, ss4833259511, ss5281946908, ss5477836796, ss5574885817, ss5739428087, ss5810947320, ss5856908483, ss5917753853	NC_000009.12:113978211:G:A	NC_000009.12:113978211:G:A	(self)
ss16005047, ss17273810, ss22865120	NT_008470.16:18398226:G:A	NC_000009.12:113978211:G:A	(self)
ss12674031, ss23522449, ss43781127, ss65977410, ss66727391, ss67906841, ss68036563, ss69301081, ss71601223, ss75630900, ss79293410, ss84806214, ss97826004, ss98248351, ss122974144, ss134256847, ss154488060, ss159662174, ss172450566, ss174814942	NT_008470.19:45905023:G:A	NC_000009.12:113978211:G:A	(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 rs9332459

PMID	Title	Author	Year	Journal
14740319	Matching strategies for genetic association studies in structured populations.	Hinds DA et al.	2004	American journal of human genetics

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs9332459