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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.

rs145914446

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:154612136 (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>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000094 (25/264690, TOPMED)
C=0.000097 (24/248632, GnomAD_exome)
C=0.000050 (7/140166, GnomAD) (+ 14 more)
C=0.000114 (13/113814, ExAC)
C=0.000128 (14/109768, ALFA)
C=0.00051 (40/78700, PAGE_STUDY)
C=0.00329 (93/28258, 14KJPN)
C=0.00322 (54/16760, 8.3KJPN)
C=0.00015 (2/13004, GO-ESP)
C=0.0002 (1/6404, 1000G_30x)
C=0.0002 (1/5008, 1000G)
C=0.0058 (17/2922, KOREAN)
C=0.0033 (6/1832, Korea1K)
C=0.004 (3/792, PRJEB37584)
C=0.002 (1/534, MGP)
G=0.5 (1/2, SGDP_PRJ)
C=0.5 (1/2, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
FGG : 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 109768 G=0.999872 C=0.000128
European Sub 92280 G=0.99995 C=0.00005
African Sub 4312 G=1.0000 C=0.0000
African Others Sub 174 G=1.000 C=0.000
African American Sub 4138 G=1.0000 C=0.0000
Asian Sub 3326 G=0.9973 C=0.0027
East Asian Sub 2672 G=0.9966 C=0.0034
Other Asian Sub 654 G=1.000 C=0.000
Latin American 1 Sub 790 G=1.000 C=0.000
Latin American 2 Sub 946 G=1.000 C=0.000
South Asian Sub 272 G=1.000 C=0.000
Other Sub 7842 G=1.0000 C=0.0000


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=0.999906 C=0.000094
gnomAD - Exomes Global Study-wide 248632 G=0.999903 C=0.000097
gnomAD - Exomes European Sub 133286 G=0.999947 C=0.000053
gnomAD - Exomes Asian Sub 48768 G=0.99967 C=0.00033
gnomAD - Exomes American Sub 34362 G=1.00000 C=0.00000
gnomAD - Exomes African Sub 16136 G=1.00000 C=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10012 G=1.00000 C=0.00000
gnomAD - Exomes Other Sub 6068 G=0.9998 C=0.0002
gnomAD - Genomes Global Study-wide 140166 G=0.999950 C=0.000050
gnomAD - Genomes European Sub 75914 G=0.99995 C=0.00005
gnomAD - Genomes African Sub 42012 G=1.00000 C=0.00000
gnomAD - Genomes American Sub 13636 G=1.00000 C=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=1.0000 C=0.0000
gnomAD - Genomes East Asian Sub 3130 G=0.9990 C=0.0010
gnomAD - Genomes Other Sub 2152 G=1.0000 C=0.0000
ExAC Global Study-wide 113814 G=0.999886 C=0.000114
ExAC Europe Sub 67954 G=0.99994 C=0.00006
ExAC Asian Sub 24148 G=0.99963 C=0.00037
ExAC American Sub 10794 G=1.00000 C=0.00000
ExAC African Sub 10048 G=1.00000 C=0.00000
ExAC Other Sub 870 G=1.000 C=0.000
Allele Frequency Aggregator Total Global 109768 G=0.999872 C=0.000128
Allele Frequency Aggregator European Sub 92280 G=0.99995 C=0.00005
Allele Frequency Aggregator Other Sub 7842 G=1.0000 C=0.0000
Allele Frequency Aggregator African Sub 4312 G=1.0000 C=0.0000
Allele Frequency Aggregator Asian Sub 3326 G=0.9973 C=0.0027
Allele Frequency Aggregator Latin American 2 Sub 946 G=1.000 C=0.000
Allele Frequency Aggregator Latin American 1 Sub 790 G=1.000 C=0.000
Allele Frequency Aggregator South Asian Sub 272 G=1.000 C=0.000
The PAGE Study Global Study-wide 78700 G=0.99949 C=0.00051
The PAGE Study AfricanAmerican Sub 32516 G=1.00000 C=0.00000
The PAGE Study Mexican Sub 10810 G=1.00000 C=0.00000
The PAGE Study Asian Sub 8318 G=0.9954 C=0.0046
The PAGE Study PuertoRican Sub 7918 G=1.0000 C=0.0000
The PAGE Study NativeHawaiian Sub 4532 G=0.9996 C=0.0004
The PAGE Study Cuban Sub 4230 G=1.0000 C=0.0000
The PAGE Study Dominican Sub 3828 G=1.0000 C=0.0000
The PAGE Study CentralAmerican Sub 2450 G=1.0000 C=0.0000
The PAGE Study SouthAmerican Sub 1982 G=1.0000 C=0.0000
The PAGE Study NativeAmerican Sub 1260 G=1.0000 C=0.0000
The PAGE Study SouthAsian Sub 856 G=1.000 C=0.000
14KJPN JAPANESE Study-wide 28258 G=0.99671 C=0.00329
8.3KJPN JAPANESE Study-wide 16760 G=0.99678 C=0.00322
GO Exome Sequencing Project Global Study-wide 13004 G=0.99985 C=0.00015
GO Exome Sequencing Project European American Sub 8598 G=0.9998 C=0.0002
GO Exome Sequencing Project African American Sub 4406 G=1.0000 C=0.0000
1000Genomes_30x Global Study-wide 6404 G=0.9998 C=0.0002
1000Genomes_30x African Sub 1786 G=1.0000 C=0.0000
1000Genomes_30x Europe Sub 1266 G=1.0000 C=0.0000
1000Genomes_30x South Asian Sub 1202 G=1.0000 C=0.0000
1000Genomes_30x East Asian Sub 1170 G=0.9991 C=0.0009
1000Genomes_30x American Sub 980 G=1.000 C=0.000
1000Genomes Global Study-wide 5008 G=0.9998 C=0.0002
1000Genomes African Sub 1322 G=1.0000 C=0.0000
1000Genomes East Asian Sub 1008 G=0.9990 C=0.0010
1000Genomes Europe Sub 1006 G=1.0000 C=0.0000
1000Genomes South Asian Sub 978 G=1.000 C=0.000
1000Genomes American Sub 694 G=1.000 C=0.000
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.9942 C=0.0058
Korean Genome Project KOREAN Study-wide 1832 G=0.9967 C=0.0033
CNV burdens in cranial meningiomas Global Study-wide 792 G=0.996 C=0.004
CNV burdens in cranial meningiomas CRM Sub 792 G=0.996 C=0.004
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.998 C=0.002
SGDP_PRJ Global Study-wide 2 G=0.5 C=0.5
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 4 NC_000004.12:g.154612136G>C
GRCh37.p13 chr 4 NC_000004.11:g.155533288G>C
FGG RefSeqGene (LRG_585) NG_008834.1:g.5615C>G
Gene: FGG, fibrinogen gamma chain (minus strand)
Molecule type Change Amino acid[Codon] SO Term
FGG transcript variant gamma-B NM_021870.3:c.189C>G D [GAC] > E [GAG] Coding Sequence Variant
fibrinogen gamma chain isoform gamma-B precursor NP_068656.2:p.Asp63Glu D (Asp) > E (Glu) Missense Variant
FGG transcript variant gamma NM_000509.6:c.189C>G D [GAC] > E [GAG] Coding Sequence Variant
fibrinogen gamma chain isoform gamma-A precursor NP_000500.2:p.Asp63Glu D (Asp) > E (Glu) 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= C
GRCh38.p14 chr 4 NC_000004.12:g.154612136= NC_000004.12:g.154612136G>C
GRCh37.p13 chr 4 NC_000004.11:g.155533288= NC_000004.11:g.155533288G>C
FGG RefSeqGene (LRG_585) NG_008834.1:g.5615= NG_008834.1:g.5615C>G
FGG transcript variant gamma NM_000509.6:c.189= NM_000509.6:c.189C>G
FGG transcript variant gamma NM_000509.5:c.189= NM_000509.5:c.189C>G
FGG transcript variant gamma-A NM_000509.4:c.189= NM_000509.4:c.189C>G
FGG transcript variant gamma-B NM_021870.3:c.189= NM_021870.3:c.189C>G
FGG transcript variant gamma-B NM_021870.2:c.189= NM_021870.2:c.189C>G
fibrinogen gamma chain isoform gamma-A precursor NP_000500.2:p.Asp63= NP_000500.2:p.Asp63Glu
fibrinogen gamma chain isoform gamma-B precursor NP_068656.2:p.Asp63= NP_068656.2:p.Asp63Glu
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#.

43 SubSNP, 16 Frequency submissions
No Submitter Submission ID Date (Build)
1 NHLBI-ESP ss342173643 May 09, 2011 (134)
2 1000GENOMES ss488796754 May 04, 2012 (137)
3 EXOME_CHIP ss491361851 May 04, 2012 (137)
4 ILLUMINA ss780833498 Sep 08, 2015 (146)
5 ILLUMINA ss783516505 Sep 08, 2015 (146)
6 1000GENOMES ss1312503017 Aug 21, 2014 (142)
7 EVA_EXAC ss1687672320 Apr 01, 2015 (144)
8 EVA_MGP ss1711074333 Apr 01, 2015 (144)
9 ILLUMINA ss1752504133 Sep 08, 2015 (146)
10 ILLUMINA ss1917785777 Feb 12, 2016 (147)
11 ILLUMINA ss1946130671 Feb 12, 2016 (147)
12 ILLUMINA ss1958732036 Feb 12, 2016 (147)
13 HUMAN_LONGEVITY ss2268558923 Dec 20, 2016 (150)
14 GNOMAD ss2734789656 Nov 08, 2017 (151)
15 GNOMAD ss2747318954 Nov 08, 2017 (151)
16 GNOMAD ss2817238388 Nov 08, 2017 (151)
17 ILLUMINA ss3022428714 Nov 08, 2017 (151)
18 ILLUMINA ss3629099102 Oct 12, 2018 (152)
19 ILLUMINA ss3634976557 Oct 12, 2018 (152)
20 ILLUMINA ss3640683850 Oct 12, 2018 (152)
21 ILLUMINA ss3644863509 Oct 12, 2018 (152)
22 ILLUMINA ss3652919367 Oct 12, 2018 (152)
23 ILLUMINA ss3726182995 Jul 13, 2019 (153)
24 ILLUMINA ss3744530999 Jul 13, 2019 (153)
25 ILLUMINA ss3745276782 Jul 13, 2019 (153)
26 EVA ss3762618971 Jul 13, 2019 (153)
27 PAGE_CC ss3771162896 Jul 13, 2019 (153)
28 ILLUMINA ss3772771216 Jul 13, 2019 (153)
29 EVA ss3824053481 Apr 26, 2020 (154)
30 SGDP_PRJ ss3860414951 Apr 26, 2020 (154)
31 KRGDB ss3906767537 Apr 26, 2020 (154)
32 KOGIC ss3955443926 Apr 26, 2020 (154)
33 EVA ss3984537305 Apr 26, 2021 (155)
34 TOPMED ss4638043709 Apr 26, 2021 (155)
35 TOMMO_GENOMICS ss5168784412 Apr 26, 2021 (155)
36 EVA ss5315001720 Oct 13, 2022 (156)
37 EVA ss5353397465 Oct 13, 2022 (156)
38 1000G_HIGH_COVERAGE ss5544037796 Oct 13, 2022 (156)
39 TOMMO_GENOMICS ss5703992886 Oct 13, 2022 (156)
40 YY_MCH ss5805684913 Oct 13, 2022 (156)
41 EVA ss5848029654 Oct 13, 2022 (156)
42 EVA ss5866190756 Oct 13, 2022 (156)
43 EVA ss5964850610 Oct 13, 2022 (156)
44 1000Genomes NC_000004.11 - 155533288 Oct 12, 2018 (152)
45 1000Genomes_30x NC_000004.12 - 154612136 Oct 13, 2022 (156)
46 ExAC NC_000004.11 - 155533288 Oct 12, 2018 (152)
47 gnomAD - Genomes NC_000004.12 - 154612136 Apr 26, 2021 (155)
48 gnomAD - Exomes NC_000004.11 - 155533288 Jul 13, 2019 (153)
49 GO Exome Sequencing Project NC_000004.11 - 155533288 Oct 12, 2018 (152)
50 KOREAN population from KRGDB NC_000004.11 - 155533288 Apr 26, 2020 (154)
51 Korean Genome Project NC_000004.12 - 154612136 Apr 26, 2020 (154)
52 Medical Genome Project healthy controls from Spanish population NC_000004.11 - 155533288 Apr 26, 2020 (154)
53 The PAGE Study NC_000004.12 - 154612136 Jul 13, 2019 (153)
54 CNV burdens in cranial meningiomas NC_000004.11 - 155533288 Apr 26, 2021 (155)
55 SGDP_PRJ NC_000004.11 - 155533288 Apr 26, 2020 (154)
56 8.3KJPN NC_000004.11 - 155533288 Apr 26, 2021 (155)
57 14KJPN NC_000004.12 - 154612136 Oct 13, 2022 (156)
58 TopMed NC_000004.12 - 154612136 Apr 26, 2021 (155)
59 ALFA NC_000004.12 - 154612136 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
24003848, 7652163, 3901973, 511663, 13944931, 190093, 86668, 12431931, 26753719, ss342173643, ss488796754, ss491361851, ss780833498, ss783516505, ss1312503017, ss1687672320, ss1711074333, ss1752504133, ss1917785777, ss1946130671, ss1958732036, ss2734789656, ss2747318954, ss2817238388, ss3022428714, ss3629099102, ss3634976557, ss3640683850, ss3644863509, ss3652919367, ss3744530999, ss3745276782, ss3762618971, ss3772771216, ss3824053481, ss3860414951, ss3906767537, ss3984537305, ss5168784412, ss5315001720, ss5353397465, ss5848029654, ss5964850610 NC_000004.11:155533287:G:C NC_000004.12:154612135:G:C (self)
31563731, 170031791, 11821927, 384365, 37829990, 475421265, 7827621193, ss2268558923, ss3726182995, ss3771162896, ss3955443926, ss4638043709, ss5544037796, ss5703992886, ss5805684913, ss5866190756 NC_000004.12:154612135:G:C NC_000004.12:154612135:G:C (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 rs145914446

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