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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.

rs2257401

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:99709062 (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=0.257868 (68255/264690, TOPMED)
C=0.237664 (33271/139992, GnomAD)
C=0.12598 (6215/49332, ALFA) (+ 5 more)
C=0.24892 (7034/28258, 14KJPN)
C=0.3370 (2158/6404, 1000G_30x)
C=0.2271 (416/1832, Korea1K)
C=0.283 (155/548, PharmGKB)
C=0.144 (30/208, HapMap)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CYP3A7 : Missense Variant
CYP3A7-CYP3A51P : Missense Variant
ZSCAN25 : Intron Variant
Publications
13 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 49332 G=0.87402 C=0.12598
European Sub 37296 G=0.91109 C=0.08891
African Sub 3574 G=0.5173 C=0.4827
African Others Sub 122 G=0.418 C=0.582
African American Sub 3452 G=0.5209 C=0.4791
Asian Sub 168 G=0.696 C=0.304
East Asian Sub 112 G=0.688 C=0.312
Other Asian Sub 56 G=0.71 C=0.29
Latin American 1 Sub 500 G=0.732 C=0.268
Latin American 2 Sub 628 G=0.814 C=0.186
South Asian Sub 98 G=0.67 C=0.33
Other Sub 7068 G=0.8812 C=0.1188


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=0.742132 C=0.257868
gnomAD - Genomes Global Study-wide 139992 G=0.762336 C=0.237664
gnomAD - Genomes European Sub 75892 G=0.91584 C=0.08416
gnomAD - Genomes African Sub 41868 G=0.46833 C=0.53167
gnomAD - Genomes American Sub 13644 G=0.78723 C=0.21277
gnomAD - Genomes Ashkenazi Jewish Sub 3318 G=0.9020 C=0.0980
gnomAD - Genomes East Asian Sub 3118 G=0.7165 C=0.2835
gnomAD - Genomes Other Sub 2152 G=0.7621 C=0.2379
Allele Frequency Aggregator Total Global 49332 G=0.87402 C=0.12598
Allele Frequency Aggregator European Sub 37296 G=0.91109 C=0.08891
Allele Frequency Aggregator Other Sub 7068 G=0.8812 C=0.1188
Allele Frequency Aggregator African Sub 3574 G=0.5173 C=0.4827
Allele Frequency Aggregator Latin American 2 Sub 628 G=0.814 C=0.186
Allele Frequency Aggregator Latin American 1 Sub 500 G=0.732 C=0.268
Allele Frequency Aggregator Asian Sub 168 G=0.696 C=0.304
Allele Frequency Aggregator South Asian Sub 98 G=0.67 C=0.33
14KJPN JAPANESE Study-wide 28258 G=0.75108 C=0.24892
1000Genomes_30x Global Study-wide 6404 G=0.6630 C=0.3370
1000Genomes_30x African Sub 1786 G=0.3813 C=0.6187
1000Genomes_30x Europe Sub 1266 G=0.9258 C=0.0742
1000Genomes_30x South Asian Sub 1202 G=0.6314 C=0.3686
1000Genomes_30x East Asian Sub 1170 G=0.7214 C=0.2786
1000Genomes_30x American Sub 980 G=0.806 C=0.194
Korean Genome Project KOREAN Study-wide 1832 G=0.7729 C=0.2271
PharmGKB Aggregated Global Study-wide 548 G=0.717 C=0.283
PharmGKB Aggregated PA149598537 Sub 356 G=0.711 C=0.289
PharmGKB Aggregated PA143074887 Sub 96 G=0.73 C=0.27
PharmGKB Aggregated PA144583032 Sub 96 G=0.73 C=0.27
HapMap Global Study-wide 208 G=0.856 C=0.144
HapMap American Sub 120 G=0.933 C=0.067
HapMap Asian Sub 88 G=0.75 C=0.25
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.99709062G>C
GRCh37.p13 chr 7 NC_000007.13:g.99306685C>G
CYP3A7 RefSeqGene NG_007983.1:g.31137C>G
Gene: ZSCAN25, zinc finger and SCAN domain containing 25 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ZSCAN25 transcript variant 2 NM_001350979.2:c. N/A Genic Downstream Transcript Variant
ZSCAN25 transcript variant 3 NM_001350980.2:c. N/A Genic Downstream Transcript Variant
ZSCAN25 transcript variant 4 NM_001350981.2:c. N/A Genic Downstream Transcript Variant
ZSCAN25 transcript variant 5 NM_001350982.2:c. N/A Genic Downstream Transcript Variant
ZSCAN25 transcript variant 6 NM_001350983.2:c. N/A Genic Downstream Transcript Variant
ZSCAN25 transcript variant 7 NM_001350984.2:c. N/A Genic Downstream Transcript Variant
ZSCAN25 transcript variant 8 NM_001350985.2:c. N/A Genic Downstream Transcript Variant
ZSCAN25 transcript variant 9 NM_001350986.2:c. N/A Genic Downstream Transcript Variant
ZSCAN25 transcript variant 1 NM_145115.3:c. N/A Genic Downstream Transcript Variant
ZSCAN25 transcript variant X1 XM_011515905.3:c. N/A Genic Downstream Transcript Variant
ZSCAN25 transcript variant X2 XM_011515907.3:c. N/A Genic Downstream Transcript Variant
ZSCAN25 transcript variant X8 XM_011515909.3:c. N/A Genic Downstream Transcript Variant
ZSCAN25 transcript variant X11 XM_011515910.3:c. N/A Genic Downstream Transcript Variant
ZSCAN25 transcript variant X5 XM_047420011.1:c. N/A Genic Downstream Transcript Variant
ZSCAN25 transcript variant X3 XM_047420012.1:c. N/A Genic Downstream Transcript Variant
ZSCAN25 transcript variant X4 XM_047420013.1:c. N/A Genic Downstream Transcript Variant
ZSCAN25 transcript variant X6 XM_047420014.1:c. N/A Genic Downstream Transcript Variant
ZSCAN25 transcript variant X7 XM_047420015.1:c. N/A Genic Downstream Transcript Variant
ZSCAN25 transcript variant X9 XM_047420016.1:c. N/A Genic Downstream Transcript Variant
ZSCAN25 transcript variant X10 XM_047420017.1:c. N/A Genic Downstream Transcript Variant
ZSCAN25 transcript variant X13 XM_047420018.1:c. N/A Genic Downstream Transcript Variant
ZSCAN25 transcript variant X14 XM_047420019.1:c. N/A Genic Downstream Transcript Variant
ZSCAN25 transcript variant X15 XM_047420020.1:c. N/A Genic Downstream Transcript Variant
ZSCAN25 transcript variant X16 XR_007059988.1:n. N/A Intron Variant
ZSCAN25 transcript variant X17 XR_007059989.1:n. N/A Intron Variant
ZSCAN25 transcript variant X18 XR_007059990.1:n. N/A Intron Variant
ZSCAN25 transcript variant X12 XR_927402.3:n. N/A Intron Variant
Gene: CYP3A7, cytochrome P450 family 3 subfamily A member 7 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CYP3A7 transcript NM_000765.5:c.1226C>G T [ACA] > R [AGA] Coding Sequence Variant
cytochrome P450 3A7 NP_000756.3:p.Thr409Arg T (Thr) > R (Arg) Missense Variant
Gene: CYP3A7-CYP3A51P, CYP3A7-CYP3A51P readthrough (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CYP3A7-CYP3A51P transcript NM_001256497.3:c.1226C>G T [ACA] > R [AGA] Coding Sequence Variant
CYP3A7-CYP3A51P protein NP_001243426.2:p.Thr409Arg T (Thr) > R (Arg) 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 7 NC_000007.14:g.99709062= NC_000007.14:g.99709062G>C
GRCh37.p13 chr 7 NC_000007.13:g.99306685C>G NC_000007.13:g.99306685=
CYP3A7 RefSeqGene NG_007983.1:g.31137= NG_007983.1:g.31137C>G
CYP3A7 transcript NM_000765.5:c.1226= NM_000765.5:c.1226C>G
CYP3A7 transcript NM_000765.4:c.1226= NM_000765.4:c.1226C>G
CYP3A7 transcript NM_000765.3:c.1226G>C NM_000765.3:c.1226=
CYP3A7-CYP3A51P transcript NM_001256497.3:c.1226= NM_001256497.3:c.1226C>G
CYP3A7-CYP3A51P transcript NM_001256497.2:c.1226= NM_001256497.2:c.1226C>G
CYP3A7-CYP3AP1 transcript NM_001256497.1:c.1226G>C NM_001256497.1:c.1226=
cytochrome P450 3A7 NP_000756.3:p.Thr409= NP_000756.3:p.Thr409Arg
CYP3A7-CYP3A51P protein NP_001243426.2:p.Thr409= NP_001243426.2:p.Thr409Arg
cytochrome P450 3A7 NP_000756.2:p.Arg409Thr NP_000756.2:p.Arg409=
CYP3A7-CYP3AP1 readthrough NP_001243426.1:p.Arg409Thr NP_001243426.1:p.Arg409=
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#.

126 SubSNP, 8 Frequency submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss3207097 Sep 28, 2001 (100)
2 SC_JCM ss3868318 Sep 28, 2001 (100)
3 RIKENSNPRC ss6312301 Feb 20, 2003 (111)
4 WI_SSAHASNP ss6518755 Feb 20, 2003 (111)
5 SC_SNP ss16209363 Feb 28, 2004 (121)
6 SSAHASNP ss22537210 Apr 05, 2004 (121)
7 SSAHASNP ss22912280 Apr 05, 2004 (121)
8 ABI ss44815396 Mar 15, 2006 (126)
9 PHARMGKB_PAAR-UCHI ss69366646 May 18, 2007 (127)
10 PHARMGKB_PAAR-UCHI ss69366716 May 18, 2007 (127)
11 PHARMGKB_AB_DME ss84157833 Dec 14, 2007 (130)
12 CORNELL ss86239967 Mar 23, 2008 (129)
13 BCMHGSC_JDW ss93734834 Mar 25, 2008 (129)
14 HUMANGENOME_JCVI ss98172745 Feb 04, 2009 (130)
15 BGI ss104454184 Feb 04, 2009 (130)
16 SNP500CANCER ss105439102 Feb 04, 2009 (130)
17 1000GENOMES ss114159516 Jan 25, 2009 (130)
18 ILLUMINA ss120037100 Dec 01, 2009 (131)
19 ENSEMBL ss142725536 Dec 01, 2009 (131)
20 ENSEMBL ss142999809 Dec 01, 2009 (131)
21 SEATTLESEQ ss159715235 Dec 01, 2009 (131)
22 ILLUMINA ss160523360 Dec 01, 2009 (131)
23 COMPLETE_GENOMICS ss162562455 Jul 04, 2010 (132)
24 COMPLETE_GENOMICS ss164958670 Jul 04, 2010 (132)
25 COMPLETE_GENOMICS ss166908733 Jul 04, 2010 (132)
26 BUSHMAN ss197977324 Jul 04, 2010 (132)
27 BCM-HGSC-SUB ss208308296 Jul 04, 2010 (132)
28 1000GENOMES ss217321047 Jul 14, 2010 (132)
29 1000GENOMES ss217397179 Jul 14, 2010 (132)
30 1000GENOMES ss217398721 Jul 14, 2010 (132)
31 1000GENOMES ss217406650 Jul 14, 2010 (132)
32 1000GENOMES ss217417771 Jul 14, 2010 (132)
33 1000GENOMES ss217418184 Jul 14, 2010 (132)
34 1000GENOMES ss217421676 Jul 14, 2010 (132)
35 1000GENOMES ss223228607 Jul 14, 2010 (132)
36 1000GENOMES ss234092992 Jul 15, 2010 (132)
37 1000GENOMES ss241025123 Jul 15, 2010 (132)
38 BL ss254546282 May 09, 2011 (134)
39 GMI ss279457271 May 04, 2012 (137)
40 GMI ss285684427 Apr 25, 2013 (138)
41 PJP ss293932735 May 09, 2011 (134)
42 NHLBI-ESP ss342240815 May 09, 2011 (134)
43 ILLUMINA ss481307757 Sep 08, 2015 (146)
44 1000GENOMES ss490949815 May 04, 2012 (137)
45 EXOME_CHIP ss491402340 May 04, 2012 (137)
46 CLINSEQ_SNP ss491910510 May 04, 2012 (137)
47 TISHKOFF ss560184121 Apr 25, 2013 (138)
48 JMKIDD_LAB ss974465107 Aug 21, 2014 (142)
49 EVA-GONL ss984590446 Aug 21, 2014 (142)
50 JMKIDD_LAB ss1067490107 Aug 21, 2014 (142)
51 JMKIDD_LAB ss1074831584 Aug 21, 2014 (142)
52 1000GENOMES ss1326339061 Aug 21, 2014 (142)
53 DDI ss1431222475 Apr 01, 2015 (144)
54 EVA_GENOME_DK ss1582324726 Apr 01, 2015 (144)
55 EVA_FINRISK ss1584053732 Apr 01, 2015 (144)
56 EVA_DECODE ss1594169462 Apr 01, 2015 (144)
57 EVA_UK10K_ALSPAC ss1618799698 Apr 01, 2015 (144)
58 EVA_UK10K_TWINSUK ss1661793731 Apr 01, 2015 (144)
59 EVA_EXAC ss1688841352 Apr 01, 2015 (144)
60 EVA_MGP ss1711173206 Apr 01, 2015 (144)
61 HAMMER_LAB ss1805132847 Sep 08, 2015 (146)
62 WEILL_CORNELL_DGM ss1927851487 Feb 12, 2016 (147)
63 ILLUMINA ss1959035674 Feb 12, 2016 (147)
64 GENOMED ss1970771487 Jul 19, 2016 (147)
65 JJLAB ss2024608566 Sep 14, 2016 (149)
66 USC_VALOUEV ss2152830404 Dec 20, 2016 (150)
67 SYSTEMSBIOZJU ss2626796262 Nov 08, 2017 (151)
68 GRF ss2708540987 Nov 08, 2017 (151)
69 ILLUMINA ss2711117352 Nov 08, 2017 (151)
70 GNOMAD ss2736599111 Nov 08, 2017 (151)
71 GNOMAD ss2747871906 Nov 08, 2017 (151)
72 GNOMAD ss2856768550 Nov 08, 2017 (151)
73 AFFY ss2985413741 Nov 08, 2017 (151)
74 AFFY ss2986045910 Nov 08, 2017 (151)
75 SWEGEN ss3001707960 Nov 08, 2017 (151)
76 ILLUMINA ss3022760788 Nov 08, 2017 (151)
77 CSIRBIOHTS ss3029637936 Nov 08, 2017 (151)
78 CSHL ss3347752735 Nov 08, 2017 (151)
79 ILLUMINA ss3636867384 Oct 12, 2018 (152)
80 OMUKHERJEE_ADBS ss3646359819 Oct 12, 2018 (152)
81 ILLUMINA ss3653294810 Oct 12, 2018 (152)
82 ILLUMINA ss3654175355 Oct 12, 2018 (152)
83 EVA_DECODE ss3720301402 Jul 13, 2019 (153)
84 ACPOP ss3734902689 Jul 13, 2019 (153)
85 EVA ss3766925444 Jul 13, 2019 (153)
86 PACBIO ss3785905185 Jul 13, 2019 (153)
87 PACBIO ss3791193205 Jul 13, 2019 (153)
88 PACBIO ss3796073183 Jul 13, 2019 (153)
89 KHV_HUMAN_GENOMES ss3810096909 Jul 13, 2019 (153)
90 EVA ss3824296457 Apr 26, 2020 (154)
91 EVA ss3825724441 Apr 26, 2020 (154)
92 EVA ss3830722434 Apr 26, 2020 (154)
93 EVA ss3838859818 Apr 26, 2020 (154)
94 SGDP_PRJ ss3867982070 Apr 26, 2020 (154)
95 KRGDB ss3915271543 Apr 26, 2020 (154)
96 KOGIC ss3962190051 Apr 26, 2020 (154)
97 FSA-LAB ss3984373773 Apr 26, 2021 (155)
98 FSA-LAB ss3984373774 Apr 26, 2021 (155)
99 EVA ss3984592435 Apr 26, 2021 (155)
100 EVA ss3986040580 Apr 26, 2021 (155)
101 EVA ss3986390953 Apr 26, 2021 (155)
102 TOPMED ss4756574100 Apr 26, 2021 (155)
103 TOMMO_GENOMICS ss5184664012 Apr 26, 2021 (155)
104 EVA ss5237035243 Apr 26, 2021 (155)
105 EVA ss5237197113 Apr 26, 2021 (155)
106 EVA ss5237649652 Oct 17, 2022 (156)
107 1000G_HIGH_COVERAGE ss5274032826 Oct 17, 2022 (156)
108 EVA ss5375498510 Oct 17, 2022 (156)
109 HUGCELL_USP ss5471003733 Oct 17, 2022 (156)
110 EVA ss5509064562 Oct 17, 2022 (156)
111 1000G_HIGH_COVERAGE ss5562814405 Oct 17, 2022 (156)
112 EVA ss5623940894 Oct 17, 2022 (156)
113 EVA ss5624169011 Oct 17, 2022 (156)
114 SANFORD_IMAGENETICS ss5643587730 Oct 17, 2022 (156)
115 TOMMO_GENOMICS ss5725376371 Oct 17, 2022 (156)
116 EVA ss5800058175 Oct 17, 2022 (156)
117 EVA ss5800140729 Oct 17, 2022 (156)
118 YY_MCH ss5808925798 Oct 17, 2022 (156)
119 EVA ss5823256162 Oct 17, 2022 (156)
120 EVA ss5848687631 Oct 17, 2022 (156)
121 EVA ss5856021573 Oct 17, 2022 (156)
122 EVA ss5860088529 Oct 17, 2022 (156)
123 EVA ss5936535776 Oct 17, 2022 (156)
124 EVA ss5972772209 Oct 17, 2022 (156)
125 EVA ss5980451761 Oct 17, 2022 (156)
126 EVA ss5981244404 Oct 17, 2022 (156)
127 1000Genomes_30x NC_000007.14 - 99709062 Oct 17, 2022 (156)
128 gnomAD - Genomes NC_000007.14 - 99709062 Apr 26, 2021 (155)
129 HapMap NC_000007.14 - 99709062 Apr 26, 2020 (154)
130 Korean Genome Project NC_000007.14 - 99709062 Apr 26, 2020 (154)
131 PharmGKB Aggregated NC_000007.14 - 99709062 Apr 26, 2020 (154)
132 14KJPN NC_000007.14 - 99709062 Oct 17, 2022 (156)
133 TopMed NC_000007.14 - 99709062 Apr 26, 2021 (155)
134 ALFA NC_000007.14 - 99709062 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).

Associated ID History Updated (Build)
rs11536558 Apr 05, 2004 (121)
rs57389434 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss93734834, ss114159516, ss162562455, ss164958670, ss166908733, ss197977324, ss208308296, ss217321047, ss217397179, ss217398721, ss217406650, ss217417771, ss217418184, ss217421676, ss254546282, ss279457271, ss285684427, ss293932735, ss491910510, ss1594169462 NC_000007.12:99144620:C:C NC_000007.14:99709061:G:C (self)
ss223228607, ss234092992, ss241025123, ss342240815, ss481307757, ss490949815, ss491402340, ss560184121, ss974465107, ss984590446, ss1067490107, ss1074831584, ss1326339061, ss1431222475, ss1582324726, ss1584053732, ss1618799698, ss1661793731, ss1688841352, ss1711173206, ss1805132847, ss1927851487, ss1959035674, ss1970771487, ss2024608566, ss2152830404, ss2626796262, ss2708540987, ss2711117352, ss2736599111, ss2747871906, ss2856768550, ss2985413741, ss2986045910, ss3001707960, ss3022760788, ss3029637936, ss3347752735, ss3636867384, ss3646359819, ss3653294810, ss3654175355, ss3734902689, ss3766925444, ss3785905185, ss3791193205, ss3796073183, ss3824296457, ss3825724441, ss3830722434, ss3838859818, ss3867982070, ss3915271543, ss3984373773, ss3984373774, ss3984592435, ss3986040580, ss3986390953, ss5184664012, ss5375498510, ss5509064562, ss5623940894, ss5624169011, ss5643587730, ss5800058175, ss5800140729, ss5823256162, ss5848687631, ss5936535776, ss5972772209, ss5980451761, ss5981244404 NC_000007.13:99306684:C:C NC_000007.14:99709061:G:C (self)
50340340, 270646546, 3455330, 18568052, 11663, 59213475, 593951659, 11079865105, ss3720301402, ss3810096909, ss3962190051, ss4756574100, ss5237035243, ss5237197113, ss5237649652, ss5274032826, ss5471003733, ss5562814405, ss5725376371, ss5808925798, ss5856021573, ss5860088529 NC_000007.14:99709061:G:C NC_000007.14:99709061:G:C (self)
ss16209363, ss22537210, ss22912280 NT_007933.13:24540268:C:C NC_000007.14:99709061:G:C (self)
ss3207097, ss3868318, ss6312301, ss6518755, ss44815396, ss69366646, ss69366716, ss84157833, ss86239967, ss98172745, ss104454184, ss105439102, ss120037100, ss142725536, ss142999809, ss159715235, ss160523360 NT_007933.15:37339527:C:C NC_000007.14:99709061: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.

13 citations for rs2257401
PMID Title Author Year Journal
17559345 Screening for SNPs and haplotypes in the CYP3A7 gene in Chinese populations. Du J et al. 2007 Pharmacogenomics
22445700 The impact of drug metabolizing enzyme polymorphisms on outcomes after antenatal corticosteroid use. Haas DM et al. 2012 American journal of obstetrics and gynecology
27110117 Clinically relevant genetic variants of drug-metabolizing enzyme and transporter genes detected in Thai children and adolescents with autism spectrum disorder. Medhasi S et al. 2016 Neuropsychiatric disease and treatment
27688786 Differential effects of hydrocortisone, prednisone, and dexamethasone on hormonal and pharmacokinetic profiles: a pilot study in children with congenital adrenal hyperplasia. Nebesio TD et al. 2016 International journal of pediatric endocrinology
28500872 CYP3A genes and the association between prenatal methylmercury exposure and neurodevelopment. Llop S et al. 2017 Environment international
28952408 Influence of CYP3A and ABCB1 polymorphisms on cyclosporine concentrations in renal transplant recipients. Sun B et al. 2017 Pharmacogenomics
30093869 Biological Predictors of Clozapine Response: A Systematic Review. Samanaite R et al. 2018 Frontiers in psychiatry
30584253 Whole exome sequencing for the identification of CYP3A7 variants associated with tacrolimus concentrations in kidney transplant patients. Sohn M et al. 2018 Scientific reports
31401678 CYP3A5 and CYP3A7 genetic polymorphisms affect tacrolimus concentration in pediatric patients with nephrotic range proteinuria. Liu H et al. 2019 European journal of clinical pharmacology
32146629 CYP3A Polymorphism and Chronic Mercury Intoxication. Chernyak YI et al. 2020 Bulletin of experimental biology and medicine
33688237 Whole-Exome Sequencing in Patients Affected by Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Reveals New Variants Potentially Contributing to the Phenotype. Fonseca DJ et al. 2021 Pharmacogenomics and personalized medicine
34688813 CYP3A7, CYP3A4, and CYP3A5 genetic polymorphisms in recipients rather than donors influence tacrolimus concentrations in the early stages after liver transplantation. Dong Y et al. 2022 Gene
34689350 Allele and genotype frequencies of CYP3A4, CYP3A5, CYP3A7, and GSTP1 gene polymorphisms among mainland Tibetan, Mongolian, Uyghur, and Han Chinese populations. Qi G et al. 2022 Clinical and experimental pharmacology & physiology
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