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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs200877872

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr17:17217136 (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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.000004 (1/250992, GnomAD_exome)
G=0.000008 (1/119850, ExAC)
G=0.0002 (1/6404, 1000G_30x) (+ 1 more)
G=0.0002 (1/5008, 1000G)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
FLCN : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
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
gnomAD - Exomes Global Study-wide 250992 A=0.999996 G=0.000004
gnomAD - Exomes European Sub 135078 A=1.000000 G=0.000000
gnomAD - Exomes Asian Sub 48976 A=1.00000 G=0.00000
gnomAD - Exomes American Sub 34570 A=0.99997 G=0.00003
gnomAD - Exomes African Sub 16180 A=1.00000 G=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10062 A=1.00000 G=0.00000
gnomAD - Exomes Other Sub 6126 A=1.0000 G=0.0000
ExAC Global Study-wide 119850 A=0.999992 G=0.000008
ExAC Europe Sub 72506 A=1.00000 G=0.00000
ExAC Asian Sub 24950 A=1.00000 G=0.00000
ExAC American Sub 11424 A=0.99991 G=0.00009
ExAC African Sub 10086 A=1.00000 G=0.00000
ExAC Other Sub 884 A=1.000 G=0.000
1000Genomes_30x Global Study-wide 6404 A=0.9998 G=0.0002
1000Genomes_30x African Sub 1786 A=1.0000 G=0.0000
1000Genomes_30x Europe Sub 1266 A=1.0000 G=0.0000
1000Genomes_30x South Asian Sub 1202 A=1.0000 G=0.0000
1000Genomes_30x East Asian Sub 1170 A=1.0000 G=0.0000
1000Genomes_30x American Sub 980 A=0.999 G=0.001
1000Genomes Global Study-wide 5008 A=0.9998 G=0.0002
1000Genomes African Sub 1322 A=1.0000 G=0.0000
1000Genomes East Asian Sub 1008 A=1.0000 G=0.0000
1000Genomes Europe Sub 1006 A=1.0000 G=0.0000
1000Genomes South Asian Sub 978 A=1.000 G=0.000
1000Genomes American Sub 694 A=0.999 G=0.001
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 17 NC_000017.11:g.17217136A>G
GRCh37.p13 chr 17 NC_000017.10:g.17120450A>G
FLCN RefSeqGene (LRG_325) NG_008001.2:g.25053T>C
Gene: FLCN, folliculin (minus strand)
Molecule type Change Amino acid[Codon] SO Term
FLCN transcript variant 2 NM_144606.7:c. N/A Genic Downstream Transcript Variant
FLCN transcript variant 1 NM_144997.7:c.1109T>C M [ATG] > T [ACG] Coding Sequence Variant
folliculin isoform 1 NP_659434.2:p.Met370Thr M (Met) > T (Thr) Missense Variant
FLCN transcript variant 5 NM_001353231.2:c.1109T>C M [ATG] > T [ACG] Coding Sequence Variant
folliculin isoform 1 NP_001340160.1:p.Met370Thr M (Met) > T (Thr) Missense Variant
FLCN transcript variant 3 NM_001353229.2:c.1163T>C M [ATG] > T [ACG] Coding Sequence Variant
folliculin isoform 3 NP_001340158.1:p.Met388Thr M (Met) > T (Thr) Missense Variant
FLCN transcript variant 4 NM_001353230.2:c.1109T>C M [ATG] > T [ACG] Coding Sequence Variant
folliculin isoform 1 NP_001340159.1:p.Met370Thr M (Met) > T (Thr) Missense Variant
FLCN transcript variant X1 XM_011523714.4:c.1163T>C M [ATG] > T [ACG] Coding Sequence Variant
folliculin isoform X1 XP_011522016.1:p.Met388Thr M (Met) > T (Thr) Missense Variant
FLCN transcript variant X2 XM_017024305.3:c.1163T>C M [ATG] > T [ACG] Coding Sequence Variant
folliculin isoform X1 XP_016879794.1:p.Met388Thr M (Met) > T (Thr) Missense Variant
FLCN transcript variant X3 XM_047435531.1:c.1163T>C M [ATG] > T [ACG] Coding Sequence Variant
folliculin isoform X1 XP_047291487.1:p.Met388Thr M (Met) > T (Thr) Missense Variant
FLCN transcript variant X4 XM_047435532.1:c.1163T>C M [ATG] > T [ACG] Coding Sequence Variant
folliculin isoform X1 XP_047291488.1:p.Met388Thr M (Met) > T (Thr) Missense Variant
FLCN transcript variant X5 XM_047435533.1:c.1163T>C M [ATG] > T [ACG] Coding Sequence Variant
folliculin isoform X1 XP_047291489.1:p.Met388Thr M (Met) > T (Thr) Missense Variant
FLCN transcript variant X6 XM_047435534.1:c.1163T>C M [ATG] > T [ACG] Coding Sequence Variant
folliculin isoform X1 XP_047291490.1:p.Met388Thr M (Met) > T (Thr) Missense Variant
FLCN transcript variant X7 XM_011523718.4:c.1163T>C M [ATG] > T [ACG] Coding Sequence Variant
folliculin isoform X1 XP_011522020.1:p.Met388Thr M (Met) > T (Thr) Missense Variant
FLCN transcript variant X8 XM_047435535.1:c.1109T>C M [ATG] > T [ACG] Coding Sequence Variant
folliculin isoform X2 XP_047291491.1:p.Met370Thr M (Met) > T (Thr) Missense Variant
FLCN transcript variant X9 XM_047435536.1:c.1109T>C M [ATG] > T [ACG] Coding Sequence Variant
folliculin isoform X2 XP_047291492.1:p.Met370Thr M (Met) > T (Thr) Missense Variant
FLCN transcript variant X10 XM_047435537.1:c.1109T>C M [ATG] > T [ACG] Coding Sequence Variant
folliculin isoform X2 XP_047291493.1:p.Met370Thr M (Met) > T (Thr) Missense Variant
FLCN transcript variant X11 XM_047435538.1:c.1109T>C M [ATG] > T [ACG] Coding Sequence Variant
folliculin isoform X2 XP_047291494.1:p.Met370Thr M (Met) > T (Thr) Missense Variant
FLCN transcript variant X12 XM_017024308.2:c.1109T>C M [ATG] > T [ACG] Coding Sequence Variant
folliculin isoform X2 XP_016879797.1:p.Met370Thr M (Met) > T (Thr) Missense Variant
FLCN transcript variant X13 XM_047435539.1:c.1163T>C M [ATG] > T [ACG] Coding Sequence Variant
folliculin isoform X1 XP_047291495.1:p.Met388Thr M (Met) > T (Thr) Missense Variant
FLCN transcript variant X14 XM_017024309.3:c.887T>C M [ATG] > T [ACG] Coding Sequence Variant
folliculin isoform X3 XP_016879798.1:p.Met296Thr M (Met) > T (Thr) Missense Variant
FLCN transcript variant X15 XM_047435540.1:c.887T>C M [ATG] > T [ACG] Coding Sequence Variant
folliculin isoform X3 XP_047291496.1:p.Met296Thr M (Met) > T (Thr) Missense Variant
FLCN transcript variant X16 XM_047435541.1:c.887T>C M [ATG] > T [ACG] Coding Sequence Variant
folliculin isoform X3 XP_047291497.1:p.Met296Thr M (Met) > T (Thr) Missense Variant
FLCN transcript variant X17 XM_011523721.4:c.1163T>C M [ATG] > T [ACG] Coding Sequence Variant
folliculin isoform X1 XP_011522023.1:p.Met388Thr M (Met) > T (Thr) Missense Variant
FLCN transcript variant X18 XM_047435542.1:c.1163T>C M [ATG] > T [ACG] Coding Sequence Variant
folliculin isoform X4 XP_047291498.1:p.Met388Thr M (Met) > T (Thr) 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 A= G
GRCh38.p14 chr 17 NC_000017.11:g.17217136= NC_000017.11:g.17217136A>G
GRCh37.p13 chr 17 NC_000017.10:g.17120450= NC_000017.10:g.17120450A>G
FLCN RefSeqGene (LRG_325) NG_008001.2:g.25053= NG_008001.2:g.25053T>C
FLCN transcript variant 1 NM_144997.7:c.1109= NM_144997.7:c.1109T>C
FLCN transcript variant 1 NM_144997.6:c.1109= NM_144997.6:c.1109T>C
FLCN transcript variant 1 NM_144997.5:c.1109= NM_144997.5:c.1109T>C
FLCN transcript variant 4 NM_001353230.2:c.1109= NM_001353230.2:c.1109T>C
FLCN transcript variant 4 NM_001353230.1:c.1109= NM_001353230.1:c.1109T>C
FLCN transcript variant 3 NM_001353229.2:c.1163= NM_001353229.2:c.1163T>C
FLCN transcript variant 3 NM_001353229.1:c.1163= NM_001353229.1:c.1163T>C
FLCN transcript variant 5 NM_001353231.2:c.1109= NM_001353231.2:c.1109T>C
FLCN transcript variant 5 NM_001353231.1:c.1109= NM_001353231.1:c.1109T>C
FLCN transcript variant X1 XM_011523714.4:c.1163= XM_011523714.4:c.1163T>C
FLCN transcript variant X1 XM_011523714.3:c.1163= XM_011523714.3:c.1163T>C
FLCN transcript variant X2 XM_011523714.2:c.1163= XM_011523714.2:c.1163T>C
FLCN transcript variant X1 XM_011523714.1:c.1163= XM_011523714.1:c.1163T>C
FLCN transcript variant X7 XM_011523718.4:c.1163= XM_011523718.4:c.1163T>C
FLCN transcript variant X4 XM_011523718.3:c.1163= XM_011523718.3:c.1163T>C
FLCN transcript variant X5 XM_011523718.2:c.1163= XM_011523718.2:c.1163T>C
FLCN transcript variant X5 XM_011523718.1:c.1163= XM_011523718.1:c.1163T>C
FLCN transcript variant X17 XM_011523721.4:c.1163= XM_011523721.4:c.1163T>C
FLCN transcript variant X8 XM_011523721.3:c.1163= XM_011523721.3:c.1163T>C
FLCN transcript variant X11 XM_011523721.2:c.1163= XM_011523721.2:c.1163T>C
FLCN transcript variant X8 XM_011523721.1:c.1163= XM_011523721.1:c.1163T>C
FLCN transcript variant X2 XM_017024305.3:c.1163= XM_017024305.3:c.1163T>C
FLCN transcript variant X3 XM_017024305.2:c.1163= XM_017024305.2:c.1163T>C
FLCN transcript variant X4 XM_017024305.1:c.1163= XM_017024305.1:c.1163T>C
FLCN transcript variant X14 XM_017024309.3:c.887= XM_017024309.3:c.887T>C
FLCN transcript variant X7 XM_017024309.2:c.887= XM_017024309.2:c.887T>C
FLCN transcript variant X10 XM_017024309.1:c.887= XM_017024309.1:c.887T>C
FLCN transcript variant X12 XM_017024308.2:c.1109= XM_017024308.2:c.1109T>C
FLCN transcript variant X5 XM_017024308.1:c.1109= XM_017024308.1:c.1109T>C
FLCN transcript variant X4 XM_047435532.1:c.1163= XM_047435532.1:c.1163T>C
FLCN transcript variant X10 XM_047435537.1:c.1109= XM_047435537.1:c.1109T>C
FLCN transcript variant X5 XM_047435533.1:c.1163= XM_047435533.1:c.1163T>C
FLCN transcript variant X6 XM_047435534.1:c.1163= XM_047435534.1:c.1163T>C
FLCN transcript variant X8 XM_047435535.1:c.1109= XM_047435535.1:c.1109T>C
FLCN transcript variant X15 XM_047435540.1:c.887= XM_047435540.1:c.887T>C
FLCN transcript variant X3 XM_047435531.1:c.1163= XM_047435531.1:c.1163T>C
FLCN transcript variant X18 XM_047435542.1:c.1163= XM_047435542.1:c.1163T>C
FLCN transcript variant X9 XM_047435536.1:c.1109= XM_047435536.1:c.1109T>C
FLCN transcript variant X13 XM_047435539.1:c.1163= XM_047435539.1:c.1163T>C
FLCN transcript variant X11 XM_047435538.1:c.1109= XM_047435538.1:c.1109T>C
FLCN transcript variant X16 XM_047435541.1:c.887= XM_047435541.1:c.887T>C
folliculin isoform 1 NP_659434.2:p.Met370= NP_659434.2:p.Met370Thr
folliculin isoform 1 NP_001340159.1:p.Met370= NP_001340159.1:p.Met370Thr
folliculin isoform 3 NP_001340158.1:p.Met388= NP_001340158.1:p.Met388Thr
folliculin isoform 1 NP_001340160.1:p.Met370= NP_001340160.1:p.Met370Thr
folliculin isoform X1 XP_011522016.1:p.Met388= XP_011522016.1:p.Met388Thr
folliculin isoform X1 XP_011522020.1:p.Met388= XP_011522020.1:p.Met388Thr
folliculin isoform X1 XP_011522023.1:p.Met388= XP_011522023.1:p.Met388Thr
folliculin isoform X1 XP_016879794.1:p.Met388= XP_016879794.1:p.Met388Thr
folliculin isoform X3 XP_016879798.1:p.Met296= XP_016879798.1:p.Met296Thr
folliculin isoform X2 XP_016879797.1:p.Met370= XP_016879797.1:p.Met370Thr
folliculin isoform X1 XP_047291488.1:p.Met388= XP_047291488.1:p.Met388Thr
folliculin isoform X2 XP_047291493.1:p.Met370= XP_047291493.1:p.Met370Thr
folliculin isoform X1 XP_047291489.1:p.Met388= XP_047291489.1:p.Met388Thr
folliculin isoform X1 XP_047291490.1:p.Met388= XP_047291490.1:p.Met388Thr
folliculin isoform X2 XP_047291491.1:p.Met370= XP_047291491.1:p.Met370Thr
folliculin isoform X3 XP_047291496.1:p.Met296= XP_047291496.1:p.Met296Thr
folliculin isoform X1 XP_047291487.1:p.Met388= XP_047291487.1:p.Met388Thr
folliculin isoform X4 XP_047291498.1:p.Met388= XP_047291498.1:p.Met388Thr
folliculin isoform X2 XP_047291492.1:p.Met370= XP_047291492.1:p.Met370Thr
folliculin isoform X1 XP_047291495.1:p.Met388= XP_047291495.1:p.Met388Thr
folliculin isoform X2 XP_047291494.1:p.Met370= XP_047291494.1:p.Met370Thr
folliculin isoform X3 XP_047291497.1:p.Met296= XP_047291497.1:p.Met296Thr
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#.

7 SubSNP, 4 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss489102442 May 04, 2012 (137)
2 1000GENOMES ss1358101238 Aug 21, 2014 (142)
3 EVA_EXAC ss1692639116 Apr 01, 2015 (144)
4 GNOMAD ss2742500285 Nov 08, 2017 (151)
5 EVA ss5426696611 Oct 16, 2022 (156)
6 1000G_HIGH_COVERAGE ss5606034042 Oct 16, 2022 (156)
7 EVA ss5913416616 Oct 16, 2022 (156)
8 1000Genomes NC_000017.10 - 17120450 Oct 12, 2018 (152)
9 1000Genomes_30x NC_000017.11 - 17217136 Oct 16, 2022 (156)
10 ExAC NC_000017.10 - 17120450 Oct 12, 2018 (152)
11 gnomAD - Exomes NC_000017.10 - 17120450 Jul 13, 2019 (153)
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
71323065, 3071022, 11801855, ss489102442, ss1358101238, ss1692639116, ss2742500285, ss5426696611 NC_000017.10:17120449:A:G NC_000017.11:17217135:A:G (self)
93559977, ss5606034042, ss5913416616 NC_000017.11:17217135:A:G NC_000017.11:17217135:A:G
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 rs200877872

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