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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.

rs1451208613

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr14:51722001 (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=0.000004 (1/251478, GnomAD_exome)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
FRMD6 : Synonymous 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 251478 G=0.999996 A=0.000004
gnomAD - Exomes European Sub 135402 G=1.000000 A=0.000000
gnomAD - Exomes Asian Sub 49010 G=0.99998 A=0.00002
gnomAD - Exomes American Sub 34592 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=1.0000 A=0.0000
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 14 NC_000014.9:g.51722001G>A
GRCh37.p13 chr 14 NC_000014.8:g.52188719G>A
Gene: FRMD6, FERM domain containing 6 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
FRMD6 transcript variant 4 NM_001267047.1:c.339G>A E [GAG] > E [GAA] Coding Sequence Variant
FERM domain-containing protein 6 isoform 3 NP_001253976.1:p.Glu113= E (Glu) > E (Glu) Synonymous Variant
FRMD6 transcript variant 3 NM_001267046.2:c.1413G>A E [GAG] > E [GAA] Coding Sequence Variant
FERM domain-containing protein 6 isoform 2 NP_001253975.1:p.Glu471= E (Glu) > E (Glu) Synonymous Variant
FRMD6 transcript variant 2 NM_152330.4:c.1389G>A E [GAG] > E [GAA] Coding Sequence Variant
FERM domain-containing protein 6 isoform 1 NP_689543.1:p.Glu463= E (Glu) > E (Glu) Synonymous Variant
FRMD6 transcript variant 1 NM_001042481.3:c.1389G>A E [GAG] > E [GAA] Coding Sequence Variant
FERM domain-containing protein 6 isoform 1 NP_001035946.1:p.Glu463= E (Glu) > E (Glu) Synonymous Variant
FRMD6 transcript variant X1 XM_006720029.2:c.1413G>A E [GAG] > E [GAA] Coding Sequence Variant
FERM domain-containing protein 6 isoform X1 XP_006720092.1:p.Glu471= E (Glu) > E (Glu) Synonymous Variant
FRMD6 transcript variant X2 XM_024449474.2:c.1413G>A E [GAG] > E [GAA] Coding Sequence Variant
FERM domain-containing protein 6 isoform X1 XP_024305242.1:p.Glu471= E (Glu) > E (Glu) Synonymous Variant
FRMD6 transcript variant X3 XM_047430920.1:c.1413G>A E [GAG] > E [GAA] Coding Sequence Variant
FERM domain-containing protein 6 isoform X1 XP_047286876.1:p.Glu471= E (Glu) > E (Glu) Synonymous Variant
FRMD6 transcript variant X4 XM_047430921.1:c.1413G>A E [GAG] > E [GAA] Coding Sequence Variant
FERM domain-containing protein 6 isoform X1 XP_047286877.1:p.Glu471= E (Glu) > E (Glu) Synonymous Variant
FRMD6 transcript variant X5 XM_047430922.1:c.1413G>A E [GAG] > E [GAA] Coding Sequence Variant
FERM domain-containing protein 6 isoform X1 XP_047286878.1:p.Glu471= E (Glu) > E (Glu) Synonymous Variant
FRMD6 transcript variant X6 XM_024449475.2:c.1413G>A E [GAG] > E [GAA] Coding Sequence Variant
FERM domain-containing protein 6 isoform X1 XP_024305243.1:p.Glu471= E (Glu) > E (Glu) Synonymous Variant
FRMD6 transcript variant X7 XM_047430923.1:c.1413G>A E [GAG] > E [GAA] Coding Sequence Variant
FERM domain-containing protein 6 isoform X1 XP_047286879.1:p.Glu471= E (Glu) > E (Glu) Synonymous Variant
FRMD6 transcript variant X8 XM_047430925.1:c.1413G>A E [GAG] > E [GAA] Coding Sequence Variant
FERM domain-containing protein 6 isoform X1 XP_047286881.1:p.Glu471= E (Glu) > E (Glu) Synonymous Variant
FRMD6 transcript variant X9 XM_047430926.1:c.1413G>A E [GAG] > E [GAA] Coding Sequence Variant
FERM domain-containing protein 6 isoform X1 XP_047286882.1:p.Glu471= E (Glu) > E (Glu) Synonymous Variant
FRMD6 transcript variant X10 XM_047430927.1:c.1413G>A E [GAG] > E [GAA] Coding Sequence Variant
FERM domain-containing protein 6 isoform X1 XP_047286883.1:p.Glu471= E (Glu) > E (Glu) Synonymous Variant
FRMD6 transcript variant X11 XM_024449473.2:c.1413G>A E [GAG] > E [GAA] Coding Sequence Variant
FERM domain-containing protein 6 isoform X1 XP_024305241.1:p.Glu471= E (Glu) > E (Glu) Synonymous Variant
FRMD6 transcript variant X12 XM_011536424.2:c.1413G>A E [GAG] > E [GAA] Coding Sequence Variant
FERM domain-containing protein 6 isoform X1 XP_011534726.1:p.Glu471= E (Glu) > E (Glu) Synonymous Variant
FRMD6 transcript variant X13 XM_047430928.1:c.1413G>A E [GAG] > E [GAA] Coding Sequence Variant
FERM domain-containing protein 6 isoform X1 XP_047286884.1:p.Glu471= E (Glu) > E (Glu) Synonymous Variant
FRMD6 transcript variant X14 XM_006720030.2:c.1389G>A E [GAG] > E [GAA] Coding Sequence Variant
FERM domain-containing protein 6 isoform X2 XP_006720093.1:p.Glu463= E (Glu) > E (Glu) Synonymous Variant
FRMD6 transcript variant X15 XM_024449476.2:c.1389G>A E [GAG] > E [GAA] Coding Sequence Variant
FERM domain-containing protein 6 isoform X2 XP_024305244.1:p.Glu463= E (Glu) > E (Glu) Synonymous Variant
FRMD6 transcript variant X16 XM_047430929.1:c.1389G>A E [GAG] > E [GAA] Coding Sequence Variant
FERM domain-containing protein 6 isoform X2 XP_047286885.1:p.Glu463= E (Glu) > E (Glu) Synonymous Variant
FRMD6 transcript variant X17 XM_047430930.1:c.1389G>A E [GAG] > E [GAA] Coding Sequence Variant
FERM domain-containing protein 6 isoform X2 XP_047286886.1:p.Glu463= E (Glu) > E (Glu) Synonymous Variant
FRMD6 transcript variant X18 XM_047430931.1:c.1389G>A E [GAG] > E [GAA] Coding Sequence Variant
FERM domain-containing protein 6 isoform X2 XP_047286887.1:p.Glu463= E (Glu) > E (Glu) Synonymous Variant
FRMD6 transcript variant X19 XM_047430932.1:c.1389G>A E [GAG] > E [GAA] Coding Sequence Variant
FERM domain-containing protein 6 isoform X2 XP_047286888.1:p.Glu463= E (Glu) > E (Glu) Synonymous Variant
FRMD6 transcript variant X20 XM_047430933.1:c.1389G>A E [GAG] > E [GAA] Coding Sequence Variant
FERM domain-containing protein 6 isoform X2 XP_047286889.1:p.Glu463= E (Glu) > E (Glu) Synonymous Variant
FRMD6 transcript variant X21 XM_047430934.1:c.1389G>A E [GAG] > E [GAA] Coding Sequence Variant
FERM domain-containing protein 6 isoform X2 XP_047286890.1:p.Glu463= E (Glu) > E (Glu) Synonymous Variant
FRMD6 transcript variant X22 XM_047430935.1:c.1389G>A E [GAG] > E [GAA] Coding Sequence Variant
FERM domain-containing protein 6 isoform X2 XP_047286891.1:p.Glu463= E (Glu) > E (Glu) Synonymous Variant
FRMD6 transcript variant X23 XM_047430936.1:c.1413G>A E [GAG] > E [GAA] Coding Sequence Variant
FERM domain-containing protein 6 isoform X3 XP_047286892.1:p.Glu471= E (Glu) > E (Glu) Synonymous Variant
FRMD6 transcript variant X24 XM_017020967.2:c.1413G>A E [GAG] > E [GAA] Coding Sequence Variant
FERM domain-containing protein 6 isoform X3 XP_016876456.1:p.Glu471= E (Glu) > E (Glu) Synonymous Variant
FRMD6 transcript variant X25 XM_017020968.3:c.1389G>A E [GAG] > E [GAA] Coding Sequence Variant
FERM domain-containing protein 6 isoform X4 XP_016876457.1:p.Glu463= E (Glu) > E (Glu) Synonymous Variant
FRMD6 transcript variant X26 XM_047430937.1:c.1389G>A E [GAG] > E [GAA] Coding Sequence Variant
FERM domain-containing protein 6 isoform X4 XP_047286893.1:p.Glu463= E (Glu) > E (Glu) Synonymous Variant
FRMD6 transcript variant X27 XM_047430938.1:c.1389G>A E [GAG] > E [GAA] Coding Sequence Variant
FERM domain-containing protein 6 isoform X4 XP_047286894.1:p.Glu463= E (Glu) > E (Glu) Synonymous Variant
FRMD6 transcript variant X28 XM_047430939.1:c.1389G>A E [GAG] > E [GAA] Coding Sequence Variant
FERM domain-containing protein 6 isoform X4 XP_047286895.1:p.Glu463= E (Glu) > E (Glu) Synonymous 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 14 NC_000014.9:g.51722001= NC_000014.9:g.51722001G>A
GRCh37.p13 chr 14 NC_000014.8:g.52188719= NC_000014.8:g.52188719G>A
FRMD6 transcript variant 2 NM_152330.4:c.1389= NM_152330.4:c.1389G>A
FRMD6 transcript variant 2 NM_152330.3:c.1389= NM_152330.3:c.1389G>A
FRMD6 transcript variant 1 NM_001042481.3:c.1389= NM_001042481.3:c.1389G>A
FRMD6 transcript variant 1 NM_001042481.2:c.1389= NM_001042481.2:c.1389G>A
FRMD6 transcript variant X25 XM_017020968.3:c.1389= XM_017020968.3:c.1389G>A
FRMD6 transcript variant X11 XM_017020968.2:c.1389= XM_017020968.2:c.1389G>A
FRMD6 transcript variant X6 XM_017020968.1:c.1389= XM_017020968.1:c.1389G>A
FRMD6 transcript variant X6 XM_024449475.2:c.1413= XM_024449475.2:c.1413G>A
FRMD6 transcript variant X7 XM_024449475.1:c.1413= XM_024449475.1:c.1413G>A
FRMD6 transcript variant X2 XM_024449474.2:c.1413= XM_024449474.2:c.1413G>A
FRMD6 transcript variant X6 XM_024449474.1:c.1413= XM_024449474.1:c.1413G>A
FRMD6 transcript variant X15 XM_024449476.2:c.1389= XM_024449476.2:c.1389G>A
FRMD6 transcript variant X9 XM_024449476.1:c.1389= XM_024449476.1:c.1389G>A
FRMD6 transcript variant X12 XM_011536424.2:c.1413= XM_011536424.2:c.1413G>A
FRMD6 transcript variant X3 XM_011536424.1:c.1413= XM_011536424.1:c.1413G>A
FRMD6 transcript variant X1 XM_006720029.2:c.1413= XM_006720029.2:c.1413G>A
FRMD6 transcript variant X4 XM_006720029.1:c.1413= XM_006720029.1:c.1413G>A
FRMD6 transcript variant X11 XM_024449473.2:c.1413= XM_024449473.2:c.1413G>A
FRMD6 transcript variant X5 XM_024449473.1:c.1413= XM_024449473.1:c.1413G>A
FRMD6 transcript variant X14 XM_006720030.2:c.1389= XM_006720030.2:c.1389G>A
FRMD6 transcript variant X8 XM_006720030.1:c.1389= XM_006720030.1:c.1389G>A
FRMD6 transcript variant 3 NM_001267046.2:c.1413= NM_001267046.2:c.1413G>A
FRMD6 transcript variant 3 NM_001267046.1:c.1413= NM_001267046.1:c.1413G>A
FRMD6 transcript variant X24 XM_017020967.2:c.1413= XM_017020967.2:c.1413G>A
FRMD6 transcript variant X10 XM_017020967.1:c.1413= XM_017020967.1:c.1413G>A
FRMD6 transcript variant X7 XM_047430923.1:c.1413= XM_047430923.1:c.1413G>A
FRMD6 transcript variant X22 XM_047430935.1:c.1389= XM_047430935.1:c.1389G>A
FRMD6 transcript variant X17 XM_047430930.1:c.1389= XM_047430930.1:c.1389G>A
FRMD6 transcript variant X20 XM_047430933.1:c.1389= XM_047430933.1:c.1389G>A
FRMD6 transcript variant X3 XM_047430920.1:c.1413= XM_047430920.1:c.1413G>A
FRMD6 transcript variant X16 XM_047430929.1:c.1389= XM_047430929.1:c.1389G>A
FRMD6 transcript variant X9 XM_047430926.1:c.1413= XM_047430926.1:c.1413G>A
FRMD6 transcript variant X13 XM_047430928.1:c.1413= XM_047430928.1:c.1413G>A
FRMD6 transcript variant X8 XM_047430925.1:c.1413= XM_047430925.1:c.1413G>A
FRMD6 transcript variant X5 XM_047430922.1:c.1413= XM_047430922.1:c.1413G>A
FRMD6 transcript variant X18 XM_047430931.1:c.1389= XM_047430931.1:c.1389G>A
FRMD6 transcript variant X4 XM_047430921.1:c.1413= XM_047430921.1:c.1413G>A
FRMD6 transcript variant X19 XM_047430932.1:c.1389= XM_047430932.1:c.1389G>A
FRMD6 transcript variant X10 XM_047430927.1:c.1413= XM_047430927.1:c.1413G>A
FRMD6 transcript variant X21 XM_047430934.1:c.1389= XM_047430934.1:c.1389G>A
FRMD6 transcript variant X23 XM_047430936.1:c.1413= XM_047430936.1:c.1413G>A
FRMD6 transcript variant X26 XM_047430937.1:c.1389= XM_047430937.1:c.1389G>A
FRMD6 transcript variant 4 NM_001267047.1:c.339= NM_001267047.1:c.339G>A
FRMD6 transcript variant X28 XM_047430939.1:c.1389= XM_047430939.1:c.1389G>A
FRMD6 transcript variant X27 XM_047430938.1:c.1389= XM_047430938.1:c.1389G>A
FERM domain-containing protein 6 isoform 1 NP_689543.1:p.Glu463= NP_689543.1:p.Glu463=
FERM domain-containing protein 6 isoform 1 NP_001035946.1:p.Glu463= NP_001035946.1:p.Glu463=
FERM domain-containing protein 6 isoform X4 XP_016876457.1:p.Glu463= XP_016876457.1:p.Glu463=
FERM domain-containing protein 6 isoform X1 XP_024305243.1:p.Glu471= XP_024305243.1:p.Glu471=
FERM domain-containing protein 6 isoform X1 XP_024305242.1:p.Glu471= XP_024305242.1:p.Glu471=
FERM domain-containing protein 6 isoform X2 XP_024305244.1:p.Glu463= XP_024305244.1:p.Glu463=
FERM domain-containing protein 6 isoform X1 XP_011534726.1:p.Glu471= XP_011534726.1:p.Glu471=
FERM domain-containing protein 6 isoform X1 XP_006720092.1:p.Glu471= XP_006720092.1:p.Glu471=
FERM domain-containing protein 6 isoform X1 XP_024305241.1:p.Glu471= XP_024305241.1:p.Glu471=
FERM domain-containing protein 6 isoform X2 XP_006720093.1:p.Glu463= XP_006720093.1:p.Glu463=
FERM domain-containing protein 6 isoform 2 NP_001253975.1:p.Glu471= NP_001253975.1:p.Glu471=
FERM domain-containing protein 6 isoform X3 XP_016876456.1:p.Glu471= XP_016876456.1:p.Glu471=
FERM domain-containing protein 6 isoform X1 XP_047286879.1:p.Glu471= XP_047286879.1:p.Glu471=
FERM domain-containing protein 6 isoform X2 XP_047286891.1:p.Glu463= XP_047286891.1:p.Glu463=
FERM domain-containing protein 6 isoform X2 XP_047286886.1:p.Glu463= XP_047286886.1:p.Glu463=
FERM domain-containing protein 6 isoform X2 XP_047286889.1:p.Glu463= XP_047286889.1:p.Glu463=
FERM domain-containing protein 6 isoform X1 XP_047286876.1:p.Glu471= XP_047286876.1:p.Glu471=
FERM domain-containing protein 6 isoform X2 XP_047286885.1:p.Glu463= XP_047286885.1:p.Glu463=
FERM domain-containing protein 6 isoform X1 XP_047286882.1:p.Glu471= XP_047286882.1:p.Glu471=
FERM domain-containing protein 6 isoform X1 XP_047286884.1:p.Glu471= XP_047286884.1:p.Glu471=
FERM domain-containing protein 6 isoform X1 XP_047286881.1:p.Glu471= XP_047286881.1:p.Glu471=
FERM domain-containing protein 6 isoform X1 XP_047286878.1:p.Glu471= XP_047286878.1:p.Glu471=
FERM domain-containing protein 6 isoform X2 XP_047286887.1:p.Glu463= XP_047286887.1:p.Glu463=
FERM domain-containing protein 6 isoform X1 XP_047286877.1:p.Glu471= XP_047286877.1:p.Glu471=
FERM domain-containing protein 6 isoform X2 XP_047286888.1:p.Glu463= XP_047286888.1:p.Glu463=
FERM domain-containing protein 6 isoform X1 XP_047286883.1:p.Glu471= XP_047286883.1:p.Glu471=
FERM domain-containing protein 6 isoform X2 XP_047286890.1:p.Glu463= XP_047286890.1:p.Glu463=
FERM domain-containing protein 6 isoform X3 XP_047286892.1:p.Glu471= XP_047286892.1:p.Glu471=
FERM domain-containing protein 6 isoform X4 XP_047286893.1:p.Glu463= XP_047286893.1:p.Glu463=
FERM domain-containing protein 6 isoform 3 NP_001253976.1:p.Glu113= NP_001253976.1:p.Glu113=
FERM domain-containing protein 6 isoform X4 XP_047286895.1:p.Glu463= XP_047286895.1:p.Glu463=
FERM domain-containing protein 6 isoform X4 XP_047286894.1:p.Glu463= XP_047286894.1:p.Glu463=
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#.

2 SubSNP, 1 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2740713210 Nov 08, 2017 (151)
2 EVA ss5512450311 Oct 16, 2022 (156)
3 gnomAD - Exomes NC_000014.8 - 52188719 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
9964877, ss2740713210, ss5512450311 NC_000014.8:52188718:G:A NC_000014.9:51722000: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 rs1451208613

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.post820+afb47a3d