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dbSNP Short Genetic Variations

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.

rs201305259

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr20:53576986 (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
A=0.000045 (12/264690, TOPMED)
A=0.000155 (39/251460, GnomAD_exome)
A=0.000036 (5/140244, GnomAD) (+ 7 more)
A=0.000206 (25/121408, ExAC)
A=0.00053 (15/28258, 14KJPN)
A=0.00048 (8/16760, 8.3KJPN)
A=0.00007 (1/14050, ALFA)
A=0.0002 (1/6404, 1000G_30x)
A=0.0002 (1/5008, 1000G)
A=0.0024 (7/2922, KOREAN)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ZNF217 : Missense 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 14050 G=0.99993 A=0.00007
European Sub 9690 G=1.0000 A=0.0000
African Sub 2898 G=1.0000 A=0.0000
African Others Sub 114 G=1.000 A=0.000
African American Sub 2784 G=1.0000 A=0.0000
Asian Sub 112 G=0.991 A=0.009
East Asian Sub 86 G=0.99 A=0.01
Other Asian Sub 26 G=1.00 A=0.00
Latin American 1 Sub 146 G=1.000 A=0.000
Latin American 2 Sub 610 G=1.000 A=0.000
South Asian Sub 98 G=1.00 A=0.00
Other Sub 496 G=1.000 A=0.000


Help

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
TopMed Global Study-wide 264690 G=0.999955 A=0.000045
gnomAD - Exomes Global Study-wide 251460 G=0.999845 A=0.000155
gnomAD - Exomes European Sub 135400 G=0.999993 A=0.000007
gnomAD - Exomes Asian Sub 49008 G=0.99925 A=0.00075
gnomAD - Exomes American Sub 34578 G=1.00000 A=0.00000
gnomAD - Exomes African Sub 16256 G=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10080 G=1.00000 A=0.00000
gnomAD - Exomes Other Sub 6138 G=0.9998 A=0.0002
gnomAD - Genomes Global Study-wide 140244 G=0.999964 A=0.000036
gnomAD - Genomes European Sub 75944 G=1.00000 A=0.00000
gnomAD - Genomes African Sub 42038 G=1.00000 A=0.00000
gnomAD - Genomes American Sub 13656 G=1.00000 A=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3132 G=0.9984 A=0.0016
gnomAD - Genomes Other Sub 2150 G=1.0000 A=0.0000
ExAC Global Study-wide 121408 G=0.999794 A=0.000206
ExAC Europe Sub 73352 G=1.00000 A=0.00000
ExAC Asian Sub 25164 G=0.99905 A=0.00095
ExAC American Sub 11578 G=1.00000 A=0.00000
ExAC African Sub 10406 G=1.00000 A=0.00000
ExAC Other Sub 908 G=0.999 A=0.001
14KJPN JAPANESE Study-wide 28258 G=0.99947 A=0.00053
8.3KJPN JAPANESE Study-wide 16760 G=0.99952 A=0.00048
Allele Frequency Aggregator Total Global 14050 G=0.99993 A=0.00007
Allele Frequency Aggregator European Sub 9690 G=1.0000 A=0.0000
Allele Frequency Aggregator African Sub 2898 G=1.0000 A=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 G=1.000 A=0.000
Allele Frequency Aggregator Other Sub 496 G=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 A=0.000
Allele Frequency Aggregator Asian Sub 112 G=0.991 A=0.009
Allele Frequency Aggregator South Asian Sub 98 G=1.00 A=0.00
1000Genomes_30x Global Study-wide 6404 G=0.9998 A=0.0002
1000Genomes_30x African Sub 1786 G=1.0000 A=0.0000
1000Genomes_30x Europe Sub 1266 G=1.0000 A=0.0000
1000Genomes_30x South Asian Sub 1202 G=1.0000 A=0.0000
1000Genomes_30x East Asian Sub 1170 G=0.9991 A=0.0009
1000Genomes_30x American Sub 980 G=1.000 A=0.000
1000Genomes Global Study-wide 5008 G=0.9998 A=0.0002
1000Genomes African Sub 1322 G=1.0000 A=0.0000
1000Genomes East Asian Sub 1008 G=0.9990 A=0.0010
1000Genomes Europe Sub 1006 G=1.0000 A=0.0000
1000Genomes South Asian Sub 978 G=1.000 A=0.000
1000Genomes American Sub 694 G=1.000 A=0.000
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.9976 A=0.0024
Help

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 20 NC_000020.11:g.53576986G>A
GRCh37.p13 chr 20 NC_000020.10:g.52193525G>A
Gene: ZNF217, zinc finger protein 217 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ZNF217 transcript variant 2 NM_006526.3:c.1778C>T S [TCA] > L [TTA] Coding Sequence Variant
zinc finger protein 217 isoform 2 NP_006517.1:p.Ser593Leu S (Ser) > L (Leu) Missense Variant
ZNF217 transcript variant 1 NM_001385034.1:c.1778C>T S [TCA] > L [TTA] Coding Sequence Variant
zinc finger protein 217 isoform 1 NP_001371963.1:p.Ser593Leu S (Ser) > L (Leu) Missense Variant
ZNF217 transcript variant X1 XM_011529036.2:c.1778C>T S [TCA] > L [TTA] Coding Sequence Variant
zinc finger protein 217 isoform X1 XP_011527338.1:p.Ser593Leu S (Ser) > L (Leu) Missense Variant
ZNF217 transcript variant X2 XM_024451997.2:c.1778C>T S [TCA] > L [TTA] Coding Sequence Variant
zinc finger protein 217 isoform X1 XP_024307765.1:p.Ser593Leu S (Ser) > L (Leu) Missense Variant
ZNF217 transcript variant X3 XM_047440459.1:c.1778C>T S [TCA] > L [TTA] Coding Sequence Variant
zinc finger protein 217 isoform X1 XP_047296415.1:p.Ser593Leu S (Ser) > L (Leu) Missense Variant
ZNF217 transcript variant X4 XM_047440460.1:c.1778C>T S [TCA] > L [TTA] Coding Sequence Variant
zinc finger protein 217 isoform X1 XP_047296416.1:p.Ser593Leu S (Ser) > L (Leu) Missense Variant
ZNF217 transcript variant X5 XM_047440461.1:c.1778C>T S [TCA] > L [TTA] Coding Sequence Variant
zinc finger protein 217 isoform X1 XP_047296417.1:p.Ser593Leu S (Ser) > L (Leu) Missense Variant
ZNF217 transcript variant X6 XM_047440462.1:c.1778C>T S [TCA] > L [TTA] Coding Sequence Variant
zinc finger protein 217 isoform X1 XP_047296418.1:p.Ser593Leu S (Ser) > L (Leu) Missense Variant
ZNF217 transcript variant X7 XM_024451998.2:c.1778C>T S [TCA] > L [TTA] Coding Sequence Variant
zinc finger protein 217 isoform X1 XP_024307766.1:p.Ser593Leu S (Ser) > L (Leu) Missense Variant
ZNF217 transcript variant X8 XM_005260545.5:c.1778C>T S [TCA] > L [TTA] Coding Sequence Variant
zinc finger protein 217 isoform X1 XP_005260602.1:p.Ser593Leu S (Ser) > L (Leu) Missense Variant
ZNF217 transcript variant X9 XM_047440463.1:c.1778C>T S [TCA] > L [TTA] Coding Sequence Variant
zinc finger protein 217 isoform X2 XP_047296419.1:p.Ser593Leu S (Ser) > L (Leu) Missense Variant
ZNF217 transcript variant X10 XM_047440464.1:c.1778C>T S [TCA] > L [TTA] Coding Sequence Variant
zinc finger protein 217 isoform X2 XP_047296420.1:p.Ser593Leu S (Ser) > L (Leu) Missense Variant
ZNF217 transcript variant X11 XM_047440465.1:c.1778C>T S [TCA] > L [TTA] Coding Sequence Variant
zinc finger protein 217 isoform X2 XP_047296421.1:p.Ser593Leu S (Ser) > L (Leu) Missense Variant
Help

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
Help

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 20 NC_000020.11:g.53576986= NC_000020.11:g.53576986G>A
GRCh37.p13 chr 20 NC_000020.10:g.52193525= NC_000020.10:g.52193525G>A
ZNF217 transcript variant X8 XM_005260545.5:c.1778= XM_005260545.5:c.1778C>T
ZNF217 transcript variant X4 XM_005260545.4:c.1778= XM_005260545.4:c.1778C>T
ZNF217 transcript variant X3 XM_005260545.3:c.1778= XM_005260545.3:c.1778C>T
ZNF217 transcript variant X3 XM_005260545.2:c.1778= XM_005260545.2:c.1778C>T
ZNF217 transcript variant X1 XM_005260545.1:c.1778= XM_005260545.1:c.1778C>T
ZNF217 transcript variant 2 NM_006526.3:c.1778= NM_006526.3:c.1778C>T
ZNF217 transcript NM_006526.2:c.1778= NM_006526.2:c.1778C>T
ZNF217 transcript variant X7 XM_024451998.2:c.1778= XM_024451998.2:c.1778C>T
ZNF217 transcript variant X6 XM_024451998.1:c.1778= XM_024451998.1:c.1778C>T
ZNF217 transcript variant X2 XM_024451997.2:c.1778= XM_024451997.2:c.1778C>T
ZNF217 transcript variant X5 XM_024451997.1:c.1778= XM_024451997.1:c.1778C>T
ZNF217 transcript variant X1 XM_011529036.2:c.1778= XM_011529036.2:c.1778C>T
ZNF217 transcript variant X3 XM_011529036.1:c.1778= XM_011529036.1:c.1778C>T
ZNF217 transcript variant X6 XM_047440462.1:c.1778= XM_047440462.1:c.1778C>T
ZNF217 transcript variant X5 XM_047440461.1:c.1778= XM_047440461.1:c.1778C>T
ZNF217 transcript variant X4 XM_047440460.1:c.1778= XM_047440460.1:c.1778C>T
ZNF217 transcript variant X3 XM_047440459.1:c.1778= XM_047440459.1:c.1778C>T
ZNF217 transcript variant 1 NM_001385034.1:c.1778= NM_001385034.1:c.1778C>T
ZNF217 transcript variant X11 XM_047440465.1:c.1778= XM_047440465.1:c.1778C>T
ZNF217 transcript variant X9 XM_047440463.1:c.1778= XM_047440463.1:c.1778C>T
ZNF217 transcript variant X10 XM_047440464.1:c.1778= XM_047440464.1:c.1778C>T
zinc finger protein 217 isoform X1 XP_005260602.1:p.Ser593= XP_005260602.1:p.Ser593Leu
zinc finger protein 217 isoform 2 NP_006517.1:p.Ser593= NP_006517.1:p.Ser593Leu
zinc finger protein 217 isoform X1 XP_024307766.1:p.Ser593= XP_024307766.1:p.Ser593Leu
zinc finger protein 217 isoform X1 XP_024307765.1:p.Ser593= XP_024307765.1:p.Ser593Leu
zinc finger protein 217 isoform X1 XP_011527338.1:p.Ser593= XP_011527338.1:p.Ser593Leu
zinc finger protein 217 isoform X1 XP_047296418.1:p.Ser593= XP_047296418.1:p.Ser593Leu
zinc finger protein 217 isoform X1 XP_047296417.1:p.Ser593= XP_047296417.1:p.Ser593Leu
zinc finger protein 217 isoform X1 XP_047296416.1:p.Ser593= XP_047296416.1:p.Ser593Leu
zinc finger protein 217 isoform X1 XP_047296415.1:p.Ser593= XP_047296415.1:p.Ser593Leu
zinc finger protein 217 isoform 1 NP_001371963.1:p.Ser593= NP_001371963.1:p.Ser593Leu
zinc finger protein 217 isoform X2 XP_047296421.1:p.Ser593= XP_047296421.1:p.Ser593Leu
zinc finger protein 217 isoform X2 XP_047296419.1:p.Ser593= XP_047296419.1:p.Ser593Leu
zinc finger protein 217 isoform X2 XP_047296420.1:p.Ser593= XP_047296420.1:p.Ser593Leu
Help

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#.

17 SubSNP, 10 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss489196471 May 04, 2012 (137)
2 1000GENOMES ss1365170907 Aug 21, 2014 (142)
3 EVA_EXAC ss1694047024 Apr 01, 2015 (144)
4 HUMAN_LONGEVITY ss2243576826 Dec 20, 2016 (150)
5 GRF ss2704216826 Nov 08, 2017 (151)
6 GNOMAD ss2744684093 Nov 08, 2017 (151)
7 GNOMAD ss2750405553 Nov 08, 2017 (151)
8 GNOMAD ss2968554365 Nov 08, 2017 (151)
9 EVA ss3758767955 Jul 13, 2019 (153)
10 KHV_HUMAN_GENOMES ss3821924628 Jul 13, 2019 (153)
11 KRGDB ss3939625954 Apr 27, 2020 (154)
12 TOPMED ss5092068063 Apr 26, 2021 (155)
13 TOMMO_GENOMICS ss5230113392 Apr 26, 2021 (155)
14 EVA ss5438052999 Oct 16, 2022 (156)
15 1000G_HIGH_COVERAGE ss5615780704 Oct 16, 2022 (156)
16 TOMMO_GENOMICS ss5790059702 Oct 16, 2022 (156)
17 EVA ss5923834200 Oct 16, 2022 (156)
18 1000Genomes NC_000020.10 - 52193525 Oct 12, 2018 (152)
19 1000Genomes_30x NC_000020.11 - 53576986 Oct 16, 2022 (156)
20 ExAC NC_000020.10 - 52193525 Oct 12, 2018 (152)
21 gnomAD - Genomes NC_000020.11 - 53576986 Apr 26, 2021 (155)
22 gnomAD - Exomes NC_000020.10 - 52193525 Jul 13, 2019 (153)
23 KOREAN population from KRGDB NC_000020.10 - 52193525 Apr 27, 2020 (154)
24 8.3KJPN NC_000020.10 - 52193525 Apr 26, 2021 (155)
25 14KJPN NC_000020.11 - 53576986 Oct 16, 2022 (156)
26 TopMed NC_000020.11 - 53576986 Apr 26, 2021 (155)
27 ALFA NC_000020.11 - 53576986 Apr 26, 2021 (155)
Help

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
78647987, 5605408, 14007800, 46803348, 88082699, ss489196471, ss1365170907, ss1694047024, ss2704216826, ss2744684093, ss2750405553, ss2968554365, ss3758767955, ss3939625954, ss5230113392, ss5438052999 NC_000020.10:52193524:G:A NC_000020.11:53576985:G:A (self)
103306639, 554751095, 123896806, 367177008, 11952544731, ss2243576826, ss3821924628, ss5092068063, ss5615780704, ss5790059702, ss5923834200 NC_000020.11:53576985:G:A NC_000020.11:53576985:G:A (self)
Help

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

No publications for rs201305259

Help

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.

Software version is: 2.0.1.post761+d5e8e07