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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.

rs4847431

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:93519247 (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 / G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.480630 (127218/264690, TOPMED)
G=0.36987 (10451/28256, 14KJPN)
G=0.36945 (6192/16760, 8.3KJPN) (+ 17 more)
C=0.42929 (4341/10112, ALFA)
C=0.4760 (3048/6404, 1000G_30x)
C=0.4866 (2437/5008, 1000G)
G=0.3595 (1604/4462, Estonian)
G=0.3861 (1488/3854, ALSPAC)
G=0.3848 (1427/3708, TWINSUK)
G=0.3901 (1143/2930, KOREAN)
G=0.3957 (725/1832, Korea1K)
G=0.413 (412/998, GoNL)
G=0.325 (195/600, NorthernSweden)
G=0.302 (131/434, SGDP_PRJ)
G=0.488 (158/324, HapMap)
C=0.449 (97/216, Qatari)
G=0.401 (85/212, Vietnamese)
G=0.40 (24/60, Ancient Sardinia)
G=0.19 (10/52, Siberian)
G=0.40 (16/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
FNBP1L : 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 10112 G=0.56982 A=0.00089, C=0.42929
European Sub 7860 G=0.4688 A=0.0011, C=0.5300
African Sub 1712 G=0.9790 A=0.0000, C=0.0210
African Others Sub 84 G=0.96 A=0.00, C=0.04
African American Sub 1628 G=0.9797 A=0.0000, C=0.0203
Asian Sub 4 G=0.5 A=0.0, C=0.5
East Asian Sub 2 G=0.5 A=0.0, C=0.5
Other Asian Sub 2 G=0.5 A=0.0, C=0.5
Latin American 1 Sub 32 G=1.00 A=0.00, C=0.00
Latin American 2 Sub 160 G=1.000 A=0.000, C=0.000
South Asian Sub 22 G=0.91 A=0.00, C=0.09
Other Sub 322 G=0.581 A=0.000, C=0.419


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=0.519370 C=0.480630
14KJPN JAPANESE Study-wide 28256 G=0.36987 C=0.63013
8.3KJPN JAPANESE Study-wide 16760 G=0.36945 C=0.63055
Allele Frequency Aggregator Total Global 10112 G=0.56982 A=0.00089, C=0.42929
Allele Frequency Aggregator European Sub 7860 G=0.4688 A=0.0011, C=0.5300
Allele Frequency Aggregator African Sub 1712 G=0.9790 A=0.0000, C=0.0210
Allele Frequency Aggregator Other Sub 322 G=0.581 A=0.000, C=0.419
Allele Frequency Aggregator Latin American 2 Sub 160 G=1.000 A=0.000, C=0.000
Allele Frequency Aggregator Latin American 1 Sub 32 G=1.00 A=0.00, C=0.00
Allele Frequency Aggregator South Asian Sub 22 G=0.91 A=0.00, C=0.09
Allele Frequency Aggregator Asian Sub 4 G=0.5 A=0.0, C=0.5
1000Genomes_30x Global Study-wide 6404 G=0.5239 A=0.0002, C=0.4760
1000Genomes_30x African Sub 1786 G=0.8214 A=0.0006, C=0.1781
1000Genomes_30x Europe Sub 1266 G=0.3894 A=0.0000, C=0.6106
1000Genomes_30x South Asian Sub 1202 G=0.4226 A=0.0000, C=0.5774
1000Genomes_30x East Asian Sub 1170 G=0.3718 A=0.0000, C=0.6282
1000Genomes_30x American Sub 980 G=0.461 A=0.000, C=0.539
1000Genomes Global Study-wide 5008 G=0.5134 C=0.4866
1000Genomes African Sub 1322 G=0.8109 C=0.1891
1000Genomes East Asian Sub 1008 G=0.3661 C=0.6339
1000Genomes Europe Sub 1006 G=0.3926 C=0.6074
1000Genomes South Asian Sub 978 G=0.425 C=0.575
1000Genomes American Sub 694 G=0.460 C=0.540
Genetic variation in the Estonian population Estonian Study-wide 4462 G=0.3595 C=0.6405
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.3861 C=0.6139
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.3848 C=0.6152
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.3901 A=0.0000, C=0.6099, T=0.0000
Korean Genome Project KOREAN Study-wide 1832 G=0.3957 C=0.6043
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.413 C=0.587
Northern Sweden ACPOP Study-wide 600 G=0.325 C=0.675
SGDP_PRJ Global Study-wide 434 G=0.302 C=0.698
HapMap Global Study-wide 324 G=0.488 C=0.512
HapMap African Sub 120 G=0.800 C=0.200
HapMap American Sub 118 G=0.339 C=0.661
HapMap Asian Sub 86 G=0.26 C=0.74
Qatari Global Study-wide 216 G=0.551 C=0.449
A Vietnamese Genetic Variation Database Global Study-wide 212 G=0.401 C=0.599
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 60 G=0.40 C=0.60
Siberian Global Study-wide 52 G=0.19 C=0.81
The Danish reference pan genome Danish Study-wide 40 G=0.40 C=0.60
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 1 NC_000001.11:g.93519247G>A
GRCh38.p14 chr 1 NC_000001.11:g.93519247G>C
GRCh38.p14 chr 1 NC_000001.11:g.93519247G>T
GRCh37.p13 chr 1 NC_000001.10:g.93984804G>A
GRCh37.p13 chr 1 NC_000001.10:g.93984804G>C
GRCh37.p13 chr 1 NC_000001.10:g.93984804G>T
Gene: FNBP1L, formin binding protein 1 like (plus strand)
Molecule type Change Amino acid[Codon] SO Term
FNBP1L transcript variant 1 NM_001024948.3:c.141-2835…

NM_001024948.3:c.141-2835G>A

N/A Intron Variant
FNBP1L transcript variant 3 NM_001164473.3:c.141-2835…

NM_001164473.3:c.141-2835G>A

N/A Intron Variant
FNBP1L transcript variant 2 NM_017737.5:c.141-2835G>A N/A Intron 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 C T
GRCh38.p14 chr 1 NC_000001.11:g.93519247= NC_000001.11:g.93519247G>A NC_000001.11:g.93519247G>C NC_000001.11:g.93519247G>T
GRCh37.p13 chr 1 NC_000001.10:g.93984804= NC_000001.10:g.93984804G>A NC_000001.10:g.93984804G>C NC_000001.10:g.93984804G>T
FNBP1L transcript variant 1 NM_001024948.2:c.141-2835= NM_001024948.2:c.141-2835G>A NM_001024948.2:c.141-2835G>C NM_001024948.2:c.141-2835G>T
FNBP1L transcript variant 1 NM_001024948.3:c.141-2835= NM_001024948.3:c.141-2835G>A NM_001024948.3:c.141-2835G>C NM_001024948.3:c.141-2835G>T
FNBP1L transcript variant 3 NM_001164473.2:c.141-2835= NM_001164473.2:c.141-2835G>A NM_001164473.2:c.141-2835G>C NM_001164473.2:c.141-2835G>T
FNBP1L transcript variant 3 NM_001164473.3:c.141-2835= NM_001164473.3:c.141-2835G>A NM_001164473.3:c.141-2835G>C NM_001164473.3:c.141-2835G>T
FNBP1L transcript variant 2 NM_017737.4:c.141-2835= NM_017737.4:c.141-2835G>A NM_017737.4:c.141-2835G>C NM_017737.4:c.141-2835G>T
FNBP1L transcript variant 2 NM_017737.5:c.141-2835= NM_017737.5:c.141-2835G>A NM_017737.5:c.141-2835G>C NM_017737.5:c.141-2835G>T
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#.

80 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss6696575 Feb 20, 2003 (111)
2 BCM_SSAHASNP ss9836152 Jul 11, 2003 (116)
3 PERLEGEN ss12673894 Dec 05, 2003 (119)
4 SSAHASNP ss20448347 Apr 05, 2004 (121)
5 PERLEGEN ss24240720 Sep 20, 2004 (123)
6 ABI ss44096154 Mar 13, 2006 (126)
7 AFFY ss65921397 Dec 01, 2006 (127)
8 PERLEGEN ss68774234 May 17, 2007 (127)
9 BCMHGSC_JDW ss87630894 Mar 23, 2008 (129)
10 HUMANGENOME_JCVI ss99229110 Feb 06, 2009 (130)
11 BGI ss102763608 Dec 01, 2009 (131)
12 1000GENOMES ss108419472 Jan 23, 2009 (130)
13 1000GENOMES ss110834235 Jan 25, 2009 (130)
14 ENSEMBL ss138854486 Dec 01, 2009 (131)
15 GMI ss155359971 Dec 01, 2009 (131)
16 COMPLETE_GENOMICS ss163674130 Jul 04, 2010 (132)
17 COMPLETE_GENOMICS ss164801624 Jul 04, 2010 (132)
18 COMPLETE_GENOMICS ss166857719 Jul 04, 2010 (132)
19 BUSHMAN ss198784783 Jul 04, 2010 (132)
20 BCM-HGSC-SUB ss205220235 Jul 04, 2010 (132)
21 1000GENOMES ss218527321 Jul 14, 2010 (132)
22 1000GENOMES ss230640144 Jul 14, 2010 (132)
23 1000GENOMES ss238311270 Jul 15, 2010 (132)
24 BL ss253285400 May 09, 2011 (134)
25 GMI ss275930125 May 04, 2012 (137)
26 GMI ss284098476 Apr 25, 2013 (138)
27 PJP ss290565142 May 09, 2011 (134)
28 ILLUMINA ss410936836 Sep 17, 2011 (135)
29 TISHKOFF ss554436683 Apr 25, 2013 (138)
30 SSMP ss648225117 Apr 25, 2013 (138)
31 EVA-GONL ss975438519 Aug 21, 2014 (142)
32 JMKIDD_LAB ss1068095777 Aug 21, 2014 (142)
33 1000GENOMES ss1291942449 Aug 21, 2014 (142)
34 DDI ss1425898979 Apr 01, 2015 (144)
35 EVA_GENOME_DK ss1574237571 Apr 01, 2015 (144)
36 EVA_DECODE ss1584815186 Apr 01, 2015 (144)
37 EVA_UK10K_ALSPAC ss1600726473 Apr 01, 2015 (144)
38 EVA_UK10K_TWINSUK ss1643720506 Apr 01, 2015 (144)
39 HAMMER_LAB ss1794750021 Sep 08, 2015 (146)
40 WEILL_CORNELL_DGM ss1918639298 Feb 12, 2016 (147)
41 GENOMED ss1966810542 Jul 19, 2016 (147)
42 JJLAB ss2019841090 Sep 14, 2016 (149)
43 USC_VALOUEV ss2147859248 Dec 20, 2016 (150)
44 HUMAN_LONGEVITY ss2164676597 Dec 20, 2016 (150)
45 SYSTEMSBIOZJU ss2624431969 Nov 08, 2017 (151)
46 GRF ss2697785387 Nov 08, 2017 (151)
47 GNOMAD ss2758160146 Nov 08, 2017 (151)
48 SWEGEN ss2987239647 Nov 08, 2017 (151)
49 BIOINF_KMB_FNS_UNIBA ss3023683465 Nov 08, 2017 (151)
50 CSHL ss3343576786 Nov 08, 2017 (151)
51 URBANLAB ss3646722216 Oct 11, 2018 (152)
52 EGCUT_WGS ss3655318530 Jul 12, 2019 (153)
53 EVA_DECODE ss3687286472 Jul 12, 2019 (153)
54 EVA_DECODE ss3687286473 Jul 12, 2019 (153)
55 ACPOP ss3727277590 Jul 12, 2019 (153)
56 EVA ss3746523378 Jul 12, 2019 (153)
57 PACBIO ss3783484983 Jul 12, 2019 (153)
58 PACBIO ss3789131713 Jul 12, 2019 (153)
59 PACBIO ss3794004538 Jul 12, 2019 (153)
60 KHV_HUMAN_GENOMES ss3799526932 Jul 12, 2019 (153)
61 EVA ss3826306240 Apr 25, 2020 (154)
62 EVA ss3836543406 Apr 25, 2020 (154)
63 EVA ss3841951153 Apr 25, 2020 (154)
64 SGDP_PRJ ss3849393429 Apr 25, 2020 (154)
65 KRGDB ss3894462122 Apr 25, 2020 (154)
66 KOGIC ss3945013967 Apr 25, 2020 (154)
67 EVA ss3984812528 Apr 25, 2021 (155)
68 TOPMED ss4459178816 Apr 25, 2021 (155)
69 TOMMO_GENOMICS ss5145128180 Apr 25, 2021 (155)
70 1000G_HIGH_COVERAGE ss5243181093 Oct 12, 2022 (156)
71 EVA ss5320406214 Oct 12, 2022 (156)
72 HUGCELL_USP ss5444146413 Oct 12, 2022 (156)
73 1000G_HIGH_COVERAGE ss5515943356 Oct 12, 2022 (156)
74 SANFORD_IMAGENETICS ss5626052384 Oct 12, 2022 (156)
75 TOMMO_GENOMICS ss5670235726 Oct 12, 2022 (156)
76 YY_MCH ss5800824881 Oct 12, 2022 (156)
77 EVA ss5832315712 Oct 12, 2022 (156)
78 EVA ss5849016772 Oct 12, 2022 (156)
79 EVA ss5909308235 Oct 12, 2022 (156)
80 EVA ss5937906842 Oct 12, 2022 (156)
81 1000Genomes NC_000001.10 - 93984804 Oct 11, 2018 (152)
82 1000Genomes_30x NC_000001.11 - 93519247 Oct 12, 2022 (156)
83 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 93984804 Oct 11, 2018 (152)
84 Genetic variation in the Estonian population NC_000001.10 - 93984804 Oct 11, 2018 (152)
85 The Danish reference pan genome NC_000001.10 - 93984804 Apr 25, 2020 (154)
86 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 19073389 (NC_000001.11:93519246:G:A 41/139982)
Row 19073390 (NC_000001.11:93519246:G:C 69866/139920)

- Apr 25, 2021 (155)
87 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 19073389 (NC_000001.11:93519246:G:A 41/139982)
Row 19073390 (NC_000001.11:93519246:G:C 69866/139920)

- Apr 25, 2021 (155)
88 Genome of the Netherlands Release 5 NC_000001.10 - 93984804 Apr 25, 2020 (154)
89 HapMap NC_000001.11 - 93519247 Apr 25, 2020 (154)
90 KOREAN population from KRGDB NC_000001.10 - 93984804 Apr 25, 2020 (154)
91 Korean Genome Project NC_000001.11 - 93519247 Apr 25, 2020 (154)
92 Northern Sweden NC_000001.10 - 93984804 Jul 12, 2019 (153)
93 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 93984804 Apr 25, 2021 (155)
94 Qatari NC_000001.10 - 93984804 Apr 25, 2020 (154)
95 SGDP_PRJ NC_000001.10 - 93984804 Apr 25, 2020 (154)
96 Siberian NC_000001.10 - 93984804 Apr 25, 2020 (154)
97 8.3KJPN NC_000001.10 - 93984804 Apr 25, 2021 (155)
98 14KJPN NC_000001.11 - 93519247 Oct 12, 2022 (156)
99 TopMed NC_000001.11 - 93519247 Apr 25, 2021 (155)
100 UK 10K study - Twins NC_000001.10 - 93984804 Oct 11, 2018 (152)
101 A Vietnamese Genetic Variation Database NC_000001.10 - 93984804 Jul 12, 2019 (153)
102 ALFA NC_000001.11 - 93519247 Apr 25, 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).

Associated ID History Updated (Build)
rs17382865 Oct 07, 2004 (123)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
1639516, ss2758160146, ss3894462122 NC_000001.10:93984803:G:A NC_000001.11:93519246:G:A (self)
3469291, 6530607819, ss2164676597, ss5515943356 NC_000001.11:93519246:G:A NC_000001.11:93519246:G:A (self)
ss87630894, ss108419472, ss110834235, ss163674130, ss164801624, ss166857719, ss198784783, ss205220235, ss253285400, ss275930125, ss284098476, ss290565142, ss1584815186 NC_000001.9:93757391:G:C NC_000001.11:93519246:G:C (self)
2700285, 1485019, 1056778, 1611249, 643465, 1639516, 562455, 38455, 681228, 1410409, 375602, 3097487, 1485019, 318849, ss218527321, ss230640144, ss238311270, ss554436683, ss648225117, ss975438519, ss1068095777, ss1291942449, ss1425898979, ss1574237571, ss1600726473, ss1643720506, ss1794750021, ss1918639298, ss1966810542, ss2019841090, ss2147859248, ss2624431969, ss2697785387, ss2758160146, ss2987239647, ss3343576786, ss3655318530, ss3727277590, ss3746523378, ss3783484983, ss3789131713, ss3794004538, ss3826306240, ss3836543406, ss3849393429, ss3894462122, ss3984812528, ss5145128180, ss5320406214, ss5626052384, ss5832315712, ss5937906842 NC_000001.10:93984803:G:C NC_000001.11:93519246:G:C (self)
3469291, 127738, 1391968, 4072830, 22785151, 6530607819, ss2164676597, ss3023683465, ss3646722216, ss3687286472, ss3799526932, ss3841951153, ss3945013967, ss4459178816, ss5243181093, ss5444146413, ss5515943356, ss5670235726, ss5800824881, ss5849016772, ss5909308235 NC_000001.11:93519246:G:C NC_000001.11:93519246:G:C (self)
ss9836152 NT_021979.15:310707:G:C NC_000001.11:93519246:G:C (self)
ss20448347 NT_028050.13:2182625:G:C NC_000001.11:93519246:G:C (self)
ss6696575, ss12673894, ss24240720, ss44096154, ss65921397, ss68774234, ss99229110, ss102763608, ss138854486, ss155359971, ss410936836 NT_032977.9:63956721:G:C NC_000001.11:93519246:G:C (self)
1639516, ss3894462122 NC_000001.10:93984803:G:T NC_000001.11:93519246:G:T (self)
ss3687286473 NC_000001.11:93519246:G:T NC_000001.11:93519246:G:T (self)
Help

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

1 citation for rs4847431
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
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