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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.

rs35704760

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:100627489 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.004725 (684/144776, ALFA)
A=0.00845 (684/80912, ExAC)
A=0.00004 (1/28258, 14KJPN) (+ 11 more)
A=0.00400 (52/13006, GO-ESP)
A=0.0030 (19/6404, 1000G_30x)
A=0.0032 (16/5008, 1000G)
A=0.0007 (3/4480, Estonian)
A=0.0005 (2/3854, ALSPAC)
A=0.0016 (6/3708, TWINSUK)
A=0.002 (2/998, GoNL)
A=0.005 (1/216, Qatari)
A=0.006 (1/176, HapMap)
G=0.50 (7/14, SGDP_PRJ)
A=0.50 (7/14, SGDP_PRJ)
Clinical Significance
Reported in ClinVar
Gene : Consequence
TFR2 : Missense Variant
LOC124901709 : Intron Variant
LOC124901710 : 2KB Upstream Variant
Publications
2 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 161124 G=0.995562 A=0.004431, C=0.000006
European Sub 131036 G=0.995688 A=0.004304, C=0.000008
African Sub 12084 G=0.99859 A=0.00141, C=0.00000
African Others Sub 434 G=1.000 A=0.000, C=0.000
African American Sub 11650 G=0.99854 A=0.00146, C=0.00000
Asian Sub 684 G=1.000 A=0.000, C=0.000
East Asian Sub 522 G=1.000 A=0.000, C=0.000
Other Asian Sub 162 G=1.000 A=0.000, C=0.000
Latin American 1 Sub 1042 G=0.9981 A=0.0019, C=0.0000
Latin American 2 Sub 2260 G=0.9973 A=0.0027, C=0.0000
South Asian Sub 178 G=1.000 A=0.000, C=0.000
Other Sub 13840 G=0.99097 A=0.00903, C=0.00000


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
Allele Frequency Aggregator Total Global 144776 G=0.995269 A=0.004725, C=0.000007
Allele Frequency Aggregator European Sub 120956 G=0.995536 A=0.004456, C=0.000008
Allele Frequency Aggregator Other Sub 12408 G=0.99009 A=0.00991, C=0.00000
Allele Frequency Aggregator African Sub 7248 G=0.9981 A=0.0019, C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 2260 G=0.9973 A=0.0027, C=0.0000
Allele Frequency Aggregator Latin American 1 Sub 1042 G=0.9981 A=0.0019, C=0.0000
Allele Frequency Aggregator Asian Sub 684 G=1.000 A=0.000, C=0.000
Allele Frequency Aggregator South Asian Sub 178 G=1.000 A=0.000, C=0.000
ExAC Global Study-wide 80912 G=0.99155 A=0.00845
ExAC Europe Sub 49494 G=0.99206 A=0.00794
ExAC Asian Sub 18240 G=0.98788 A=0.01212
ExAC African Sub 7296 G=0.9984 A=0.0016
ExAC American Sub 5298 G=0.9900 A=0.0100
ExAC Other Sub 584 G=0.991 A=0.009
14KJPN JAPANESE Study-wide 28258 G=0.99996 A=0.00004
GO Exome Sequencing Project Global Study-wide 13006 G=0.99600 A=0.00400
GO Exome Sequencing Project European American Sub 8600 G=0.9948 A=0.0052
GO Exome Sequencing Project African American Sub 4406 G=0.9984 A=0.0016
1000Genomes_30x Global Study-wide 6404 G=0.9970 A=0.0030
1000Genomes_30x African Sub 1786 G=1.0000 A=0.0000
1000Genomes_30x Europe Sub 1266 G=0.9961 A=0.0039
1000Genomes_30x South Asian Sub 1202 G=0.9900 A=0.0100
1000Genomes_30x East Asian Sub 1170 G=0.9983 A=0.0017
1000Genomes_30x American Sub 980 G=1.000 A=0.000
1000Genomes Global Study-wide 5008 G=0.9968 A=0.0032
1000Genomes African Sub 1322 G=1.0000 A=0.0000
1000Genomes East Asian Sub 1008 G=0.9980 A=0.0020
1000Genomes Europe Sub 1006 G=0.9960 A=0.0040
1000Genomes South Asian Sub 978 G=0.990 A=0.010
1000Genomes American Sub 694 G=1.000 A=0.000
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9993 A=0.0007
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9995 A=0.0005
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9984 A=0.0016
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.998 A=0.002
Qatari Global Study-wide 216 G=0.995 A=0.005
HapMap Global Study-wide 176 G=0.994 A=0.006
HapMap Europe Sub 176 G=0.994 A=0.006
SGDP_PRJ Global Study-wide 14 G=0.50 A=0.50
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 7 NC_000007.14:g.100627489G>A
GRCh38.p14 chr 7 NC_000007.14:g.100627489G>C
GRCh37.p13 chr 7 NC_000007.13:g.100225112G>A
GRCh37.p13 chr 7 NC_000007.13:g.100225112G>C
TFR2 RefSeqGene NG_007989.1:g.19062C>T
TFR2 RefSeqGene NG_007989.1:g.19062C>G
Gene: TFR2, transferrin receptor 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
TFR2 transcript variant 1 NM_003227.4:c.1770C>T D [GAC] > D [GAT] Coding Sequence Variant
transferrin receptor protein 2 isoform 1 NP_003218.2:p.Asp590= D (Asp) > D (Asp) Synonymous Variant
TFR2 transcript variant 1 NM_003227.4:c.1770C>G D [GAC] > E [GAG] Coding Sequence Variant
transferrin receptor protein 2 isoform 1 NP_003218.2:p.Asp590Glu D (Asp) > E (Glu) Missense Variant
TFR2 transcript variant 2 NM_001206855.3:c.1257C>T D [GAC] > D [GAT] Coding Sequence Variant
transferrin receptor protein 2 isoform 2 NP_001193784.1:p.Asp419= D (Asp) > D (Asp) Synonymous Variant
TFR2 transcript variant 2 NM_001206855.3:c.1257C>G D [GAC] > E [GAG] Coding Sequence Variant
transferrin receptor protein 2 isoform 2 NP_001193784.1:p.Asp419Glu D (Asp) > E (Glu) Missense Variant
Gene: LOC124901709, uncharacterized LOC124901709 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC124901709 transcript XR_007060454.1:n. N/A Intron Variant
Gene: LOC124901710, uncharacterized LOC124901710 (minus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
LOC124901710 transcript XR_007060455.1:n. N/A Upstream Transcript 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.

Allele: A (allele ID: 34220 )
ClinVar Accession Disease Names Clinical Significance
RCV000020541.5 Hemochromatosis type 3 Benign
RCV000260231.10 Hereditary hemochromatosis Benign
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
GRCh38.p14 chr 7 NC_000007.14:g.100627489= NC_000007.14:g.100627489G>A NC_000007.14:g.100627489G>C
GRCh37.p13 chr 7 NC_000007.13:g.100225112= NC_000007.13:g.100225112G>A NC_000007.13:g.100225112G>C
TFR2 RefSeqGene NG_007989.1:g.19062= NG_007989.1:g.19062C>T NG_007989.1:g.19062C>G
TFR2 transcript variant 1 NM_003227.4:c.1770= NM_003227.4:c.1770C>T NM_003227.4:c.1770C>G
TFR2 transcript variant 1 NM_003227.3:c.1770= NM_003227.3:c.1770C>T NM_003227.3:c.1770C>G
TFR2 transcript variant 2 NM_001206855.3:c.1257= NM_001206855.3:c.1257C>T NM_001206855.3:c.1257C>G
TFR2 transcript variant 2 NM_001206855.2:c.1257= NM_001206855.2:c.1257C>T NM_001206855.2:c.1257C>G
TFR2 transcript variant 2 NM_001206855.1:c.1257= NM_001206855.1:c.1257C>T NM_001206855.1:c.1257C>G
transferrin receptor protein 2 isoform 1 NP_003218.2:p.Asp590= NP_003218.2:p.Asp590= NP_003218.2:p.Asp590Glu
transferrin receptor protein 2 isoform 2 NP_001193784.1:p.Asp419= NP_001193784.1:p.Asp419= NP_001193784.1:p.Asp419Glu
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#.

77 SubSNP, 19 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 APPLERA_GI ss48418343 Mar 15, 2006 (126)
2 RSG_UW ss52672798 Oct 16, 2006 (127)
3 ILLUMINA ss75027539 Dec 07, 2007 (129)
4 KRIBB_YJKIM ss119918263 Dec 01, 2009 (131)
5 ILLUMINA ss160628454 Dec 01, 2009 (131)
6 ILLUMINA ss173603956 Jul 04, 2010 (132)
7 GENEREVIEWS ss179362568 Nov 18, 2009 (131)
8 BUSHMAN ss197983386 Jul 04, 2010 (132)
9 NHLBI-ESP ss342241739 May 09, 2011 (134)
10 ILLUMINA ss480793564 May 04, 2012 (137)
11 ILLUMINA ss480809286 May 04, 2012 (137)
12 ILLUMINA ss481728549 Sep 08, 2015 (146)
13 ILLUMINA ss485191564 May 04, 2012 (137)
14 1000GENOMES ss488869389 May 04, 2012 (137)
15 CLINSEQ_SNP ss491911083 May 04, 2012 (137)
16 ILLUMINA ss537180587 Sep 08, 2015 (146)
17 ILLUMINA ss778892436 Aug 21, 2014 (142)
18 ILLUMINA ss783041831 Aug 21, 2014 (142)
19 ILLUMINA ss784001043 Aug 21, 2014 (142)
20 ILLUMINA ss832299588 Apr 01, 2015 (144)
21 ILLUMINA ss834353566 Aug 21, 2014 (142)
22 EVA-GONL ss984595715 Aug 21, 2014 (142)
23 JMKIDD_LAB ss1067490387 Aug 21, 2014 (142)
24 JMKIDD_LAB ss1074834599 Aug 21, 2014 (142)
25 1000GENOMES ss1326363107 Aug 21, 2014 (142)
26 EVA_UK10K_ALSPAC ss1618810575 Apr 01, 2015 (144)
27 EVA_UK10K_TWINSUK ss1661804608 Apr 01, 2015 (144)
28 EVA_EXAC ss1688857360 Apr 01, 2015 (144)
29 EVA_SVP ss1712974765 Apr 01, 2015 (144)
30 ILLUMINA ss1752654720 Sep 08, 2015 (146)
31 WEILL_CORNELL_DGM ss1927856768 Feb 12, 2016 (147)
32 JJLAB ss2024610784 Sep 14, 2016 (149)
33 HUMAN_LONGEVITY ss2296239723 Dec 20, 2016 (150)
34 ILLUMINA ss2634638925 Nov 08, 2017 (151)
35 GNOMAD ss2736623629 Nov 08, 2017 (151)
36 GNOMAD ss2747879264 Nov 08, 2017 (151)
37 GNOMAD ss2856843958 Nov 08, 2017 (151)
38 SWEGEN ss3001717829 Nov 08, 2017 (151)
39 ILLUMINA ss3629874531 Oct 12, 2018 (152)
40 ILLUMINA ss3632544459 Oct 12, 2018 (152)
41 ILLUMINA ss3633472372 Oct 12, 2018 (152)
42 ILLUMINA ss3634197753 Oct 12, 2018 (152)
43 ILLUMINA ss3635133609 Oct 12, 2018 (152)
44 ILLUMINA ss3635877324 Oct 12, 2018 (152)
45 ILLUMINA ss3636867797 Oct 12, 2018 (152)
46 ILLUMINA ss3637630344 Oct 12, 2018 (152)
47 ILLUMINA ss3638713664 Oct 12, 2018 (152)
48 ILLUMINA ss3640840902 Oct 12, 2018 (152)
49 ILLUMINA ss3641217286 Oct 12, 2018 (152)
50 ILLUMINA ss3641514801 Oct 12, 2018 (152)
51 ILLUMINA ss3643648199 Oct 12, 2018 (152)
52 EGCUT_WGS ss3669470597 Jul 13, 2019 (153)
53 EVA_DECODE ss3720312568 Jul 13, 2019 (153)
54 ILLUMINA ss3745433632 Jul 13, 2019 (153)
55 EVA ss3766931933 Jul 13, 2019 (153)
56 ILLUMINA ss3772926472 Jul 13, 2019 (153)
57 PACBIO ss3785906748 Jul 13, 2019 (153)
58 PACBIO ss3791194304 Jul 13, 2019 (153)
59 PACBIO ss3796074284 Jul 13, 2019 (153)
60 KHV_HUMAN_GENOMES ss3810102449 Jul 13, 2019 (153)
61 EVA ss3824299731 Apr 26, 2020 (154)
62 EVA ss3825725024 Apr 26, 2020 (154)
63 SGDP_PRJ ss3867993680 Apr 26, 2020 (154)
64 FSA-LAB ss3984374429 Apr 26, 2021 (155)
65 TOPMED ss4756798610 Apr 26, 2021 (155)
66 TOPMED ss4756798611 Apr 26, 2021 (155)
67 1000G_HIGH_COVERAGE ss5274054272 Oct 16, 2022 (156)
68 EVA ss5315267005 Oct 16, 2022 (156)
69 EVA ss5375537759 Oct 16, 2022 (156)
70 HUGCELL_USP ss5471021031 Oct 16, 2022 (156)
71 1000G_HIGH_COVERAGE ss5562847071 Oct 16, 2022 (156)
72 SANFORD_IMAGENETICS ss5643598192 Oct 16, 2022 (156)
73 TOMMO_GENOMICS ss5725417895 Oct 16, 2022 (156)
74 YY_MCH ss5808930159 Oct 16, 2022 (156)
75 EVA ss5823263682 Oct 16, 2022 (156)
76 EVA ss5860111641 Oct 16, 2022 (156)
77 EVA ss5972782861 Oct 16, 2022 (156)
78 1000Genomes NC_000007.13 - 100225112 Oct 12, 2018 (152)
79 1000Genomes_30x NC_000007.14 - 100627489 Oct 16, 2022 (156)
80 The Avon Longitudinal Study of Parents and Children NC_000007.13 - 100225112 Oct 12, 2018 (152)
81 Genetic variation in the Estonian population NC_000007.13 - 100225112 Oct 12, 2018 (152)
82 ExAC NC_000007.13 - 100225112 Oct 12, 2018 (152)
83 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 270838430 (NC_000007.14:100627488:G:A 433/140274)
Row 270838431 (NC_000007.14:100627488:G:C 5/140276)

- Apr 26, 2021 (155)
84 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 270838430 (NC_000007.14:100627488:G:A 433/140274)
Row 270838431 (NC_000007.14:100627488:G:C 5/140276)

- Apr 26, 2021 (155)
85 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 5788590 (NC_000007.13:100225111:G:G 243555/245126, NC_000007.13:100225111:G:A 1571/245126)
Row 5788591 (NC_000007.13:100225111:G:G 245125/245126, NC_000007.13:100225111:G:C 1/245126)

- Jul 13, 2019 (153)
86 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 5788590 (NC_000007.13:100225111:G:G 243555/245126, NC_000007.13:100225111:G:A 1571/245126)
Row 5788591 (NC_000007.13:100225111:G:G 245125/245126, NC_000007.13:100225111:G:C 1/245126)

- Jul 13, 2019 (153)
87 GO Exome Sequencing Project NC_000007.13 - 100225112 Oct 12, 2018 (152)
88 Genome of the Netherlands Release 5 NC_000007.13 - 100225112 Apr 26, 2020 (154)
89 HapMap NC_000007.14 - 100627489 Apr 26, 2020 (154)
90 Qatari NC_000007.13 - 100225112 Apr 26, 2020 (154)
91 SGDP_PRJ NC_000007.13 - 100225112 Apr 26, 2020 (154)
92 14KJPN NC_000007.14 - 100627489 Oct 16, 2022 (156)
93 TopMed

Submission ignored due to conflicting rows:
Row 594176169 (NC_000007.14:100627488:G:A 917/264690)
Row 594176170 (NC_000007.14:100627488:G:C 13/264690)

- Apr 26, 2021 (155)
94 TopMed

Submission ignored due to conflicting rows:
Row 594176169 (NC_000007.14:100627488:G:A 917/264690)
Row 594176170 (NC_000007.14:100627488:G:C 13/264690)

- Apr 26, 2021 (155)
95 UK 10K study - Twins NC_000007.13 - 100225112 Oct 12, 2018 (152)
96 ALFA NC_000007.14 - 100627489 Apr 26, 2021 (155)
97 ClinVar RCV000020541.5 Oct 16, 2022 (156)
98 ClinVar RCV000260231.10 Oct 16, 2022 (156)
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)
rs386583961 Aug 06, 2014 (136)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss197983386, ss480793564, ss491911083, ss1712974765, ss3643648199 NC_000007.12:100063047:G:A NC_000007.14:100627488:G:A (self)
38377883, 21353480, 15208845, 8932475, 757674, 9532181, 9898698, 20010660, 21353480, ss342241739, ss480809286, ss481728549, ss485191564, ss488869389, ss537180587, ss778892436, ss783041831, ss784001043, ss832299588, ss834353566, ss984595715, ss1067490387, ss1074834599, ss1326363107, ss1618810575, ss1661804608, ss1688857360, ss1752654720, ss1927856768, ss2024610784, ss2634638925, ss2736623629, ss2747879264, ss2856843958, ss3001717829, ss3629874531, ss3632544459, ss3633472372, ss3634197753, ss3635133609, ss3635877324, ss3636867797, ss3637630344, ss3638713664, ss3640840902, ss3641217286, ss3641514801, ss3669470597, ss3745433632, ss3766931933, ss3772926472, ss3785906748, ss3791194304, ss3796074284, ss3824299731, ss3825725024, ss3867993680, ss3984374429, ss5315267005, ss5375537759, ss5643598192, ss5823263682, ss5972782861 NC_000007.13:100225111:G:A NC_000007.14:100627488:G:A (self)
RCV000020541.5, RCV000260231.10, 50373006, 3456052, 59254999, 2100958167, ss179362568, ss2296239723, ss3720312568, ss3810102449, ss4756798610, ss5274054272, ss5471021031, ss5562847071, ss5725417895, ss5808930159, ss5860111641 NC_000007.14:100627488:G:A NC_000007.14:100627488:G:A (self)
ss48418343, ss52672798, ss75027539, ss119918263, ss160628454, ss173603956 NT_007933.15:38257954:G:A NC_000007.14:100627488:G:A (self)
ss2736623629 NC_000007.13:100225111:G:C NC_000007.14:100627488:G:C (self)
2100958167, ss4756798611 NC_000007.14:100627488:G:C NC_000007.14:100627488: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.

2 citations for rs35704760
PMID Title Author Year Journal
11358389 Mutation analysis of the transferrin receptor-2 gene in patients with iron overload. Lee PL et al. 2001 Blood cells, molecules & diseases
20301523 TFR2-Related Hemochromatosis. De Gobbi M et al. 1993 GeneReviews(®)
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