Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs1427407

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr2:60490908 (GRCh38.p13) 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
T>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.197688 (52326/264690, TOPMED)
T=0.175734 (45719/260160, ALFA)
T=0.192378 (26921/139938, GnomAD) (+ 18 more)
T=0.20896 (16444/78696, PAGE_STUDY)
T=0.15370 (2576/16760, 8.3KJPN)
T=0.1993 (998/5008, 1000G)
T=0.1674 (750/4480, Estonian)
T=0.1533 (591/3854, ALSPAC)
T=0.1521 (564/3708, TWINSUK)
T=0.2007 (588/2930, KOREAN)
T=0.2333 (440/1886, HapMap)
T=0.2415 (270/1118, Daghestan)
T=0.136 (136/998, GoNL)
T=0.198 (156/788, PRJEB37584)
T=0.147 (88/600, NorthernSweden)
T=0.162 (88/544, SGDP_PRJ)
T=0.241 (52/216, Qatari)
T=0.269 (57/212, Vietnamese)
T=0.10 (5/52, Siberian)
T=0.21 (10/48, Ancient Sardinia)
T=0.10 (4/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
BCL11A : Intron Variant
Publications
28 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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 260160 T=0.175734 C=0.000000, G=0.824266
European Sub 227350 T=0.170310 C=0.000000, G=0.829690
African Sub 8018 T=0.2575 C=0.0000, G=0.7425
African Others Sub 280 T=0.286 C=0.000, G=0.714
African American Sub 7738 T=0.2565 C=0.0000, G=0.7435
Asian Sub 6688 T=0.1992 C=0.0000, G=0.8008
East Asian Sub 4788 T=0.2024 C=0.0000, G=0.7976
Other Asian Sub 1900 T=0.1911 C=0.0000, G=0.8089
Latin American 1 Sub 842 T=0.198 C=0.000, G=0.802
Latin American 2 Sub 2016 T=0.2569 C=0.0000, G=0.7431
South Asian Sub 274 T=0.175 C=0.000, G=0.825
Other Sub 14972 T=0.19162 C=0.00000, G=0.80838


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 T=0.197688 G=0.802312
gnomAD - Genomes Global Study-wide 139938 T=0.192378 G=0.807622
gnomAD - Genomes European Sub 75842 T=0.16173 G=0.83827
gnomAD - Genomes African Sub 41864 T=0.23364 G=0.76636
gnomAD - Genomes American Sub 13640 T=0.21092 G=0.78908
gnomAD - Genomes Ashkenazi Jewish Sub 3322 T=0.2815 G=0.7185
gnomAD - Genomes East Asian Sub 3128 T=0.2094 G=0.7906
gnomAD - Genomes Other Sub 2142 T=0.1900 G=0.8100
The PAGE Study Global Study-wide 78696 T=0.20896 G=0.79104
The PAGE Study AfricanAmerican Sub 32514 T=0.23239 G=0.76761
The PAGE Study Mexican Sub 10810 T=0.22294 G=0.77706
The PAGE Study Asian Sub 8316 T=0.1677 G=0.8323
The PAGE Study PuertoRican Sub 7918 T=0.1788 G=0.8212
The PAGE Study NativeHawaiian Sub 4532 T=0.1024 G=0.8976
The PAGE Study Cuban Sub 4230 T=0.1974 G=0.8026
The PAGE Study Dominican Sub 3828 T=0.2249 G=0.7751
The PAGE Study CentralAmerican Sub 2450 T=0.2571 G=0.7429
The PAGE Study SouthAmerican Sub 1982 T=0.2492 G=0.7508
The PAGE Study NativeAmerican Sub 1260 T=0.2071 G=0.7929
The PAGE Study SouthAsian Sub 856 T=0.143 G=0.857
8.3KJPN JAPANESE Study-wide 16760 T=0.15370 G=0.84630
1000Genomes Global Study-wide 5008 T=0.1993 G=0.8007
1000Genomes African Sub 1322 T=0.2375 G=0.7625
1000Genomes East Asian Sub 1008 T=0.2560 G=0.7440
1000Genomes Europe Sub 1006 T=0.1511 G=0.8489
1000Genomes South Asian Sub 978 T=0.120 G=0.880
1000Genomes American Sub 694 T=0.226 G=0.774
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.1674 G=0.8326
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.1533 G=0.8467
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.1521 G=0.8479
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.2007 G=0.7993
HapMap Global Study-wide 1886 T=0.2333 G=0.7667
HapMap American Sub 768 T=0.197 G=0.803
HapMap African Sub 688 T=0.294 G=0.706
HapMap Asian Sub 254 T=0.213 G=0.787
HapMap Europe Sub 176 T=0.188 G=0.812
Genome-wide autozygosity in Daghestan Global Study-wide 1118 T=0.2415 G=0.7585
Genome-wide autozygosity in Daghestan Daghestan Sub 616 T=0.278 G=0.722
Genome-wide autozygosity in Daghestan Near_East Sub 144 T=0.250 G=0.750
Genome-wide autozygosity in Daghestan Central Asia Sub 122 T=0.189 G=0.811
Genome-wide autozygosity in Daghestan Europe Sub 104 T=0.183 G=0.817
Genome-wide autozygosity in Daghestan South Asian Sub 98 T=0.11 G=0.89
Genome-wide autozygosity in Daghestan Caucasus Sub 34 T=0.29 G=0.71
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.136 G=0.864
CNV burdens in cranial meningiomas Global Study-wide 788 T=0.198 G=0.802
CNV burdens in cranial meningiomas CRM Sub 788 T=0.198 G=0.802
Northern Sweden ACPOP Study-wide 600 T=0.147 G=0.853
SGDP_PRJ Global Study-wide 544 T=0.162 G=0.838
Qatari Global Study-wide 216 T=0.241 G=0.759
A Vietnamese Genetic Variation Database Global Study-wide 212 T=0.269 G=0.731
Siberian Global Study-wide 52 T=0.10 G=0.90
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 48 T=0.21 G=0.79
The Danish reference pan genome Danish Study-wide 40 T=0.10 G=0.90
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.p13 chr 2 NC_000002.12:g.60490908T>C
GRCh38.p13 chr 2 NC_000002.12:g.60490908T>G
GRCh37.p13 chr 2 NC_000002.11:g.60718043T>C
GRCh37.p13 chr 2 NC_000002.11:g.60718043T>G
BCL11A RefSeqGene NG_011968.1:g.67591A>G
BCL11A RefSeqGene NG_011968.1:g.67591A>C
Gene: BCL11A, BAF chromatin remodeling complex subunit BCL11A (minus strand)
Molecule type Change Amino acid[Codon] SO Term
BCL11A transcript variant 4 NM_001363864.1:c.386-2848…

NM_001363864.1:c.386-28484A>G

N/A Intron Variant
BCL11A transcript variant 5 NM_001365609.1:c.386-2848…

NM_001365609.1:c.386-28484A>G

N/A Intron Variant
BCL11A transcript variant 2 NM_018014.4:c.386-22075A>G N/A Intron Variant
BCL11A transcript variant 1 NM_022893.4:c.386-22075A>G N/A Intron Variant
BCL11A transcript variant 3 NM_138559.2:c.386-22075A>G N/A Intron Variant
BCL11A transcript variant X1 XM_011532909.1:c.386-2207…

XM_011532909.1:c.386-22075A>G

N/A Intron Variant
BCL11A transcript variant X3 XM_011532910.1:c.386-2207…

XM_011532910.1:c.386-22075A>G

N/A Intron Variant
BCL11A transcript variant X2 XM_017004333.1:c.380-2207…

XM_017004333.1:c.380-22075A>G

N/A Intron Variant
BCL11A transcript variant X5 XM_017004335.1:c.380-2848…

XM_017004335.1:c.380-28484A>G

N/A Intron Variant
BCL11A transcript variant X9 XM_017004336.1:c.53-22075…

XM_017004336.1:c.53-22075A>G

N/A Intron Variant
BCL11A transcript variant X7 XM_024452962.1:c.230-2207…

XM_024452962.1:c.230-22075A>G

N/A Intron Variant
BCL11A transcript variant X8 XM_024452963.1:c.230-2207…

XM_024452963.1:c.230-22075A>G

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 T= C G
GRCh38.p13 chr 2 NC_000002.12:g.60490908= NC_000002.12:g.60490908T>C NC_000002.12:g.60490908T>G
GRCh37.p13 chr 2 NC_000002.11:g.60718043= NC_000002.11:g.60718043T>C NC_000002.11:g.60718043T>G
BCL11A RefSeqGene NG_011968.1:g.67591= NG_011968.1:g.67591A>G NG_011968.1:g.67591A>C
BCL11A transcript variant 4 NM_001363864.1:c.386-28484= NM_001363864.1:c.386-28484A>G NM_001363864.1:c.386-28484A>C
BCL11A transcript variant 5 NM_001365609.1:c.386-28484= NM_001365609.1:c.386-28484A>G NM_001365609.1:c.386-28484A>C
BCL11A transcript variant 2 NM_018014.3:c.386-22075= NM_018014.3:c.386-22075A>G NM_018014.3:c.386-22075A>C
BCL11A transcript variant 2 NM_018014.4:c.386-22075= NM_018014.4:c.386-22075A>G NM_018014.4:c.386-22075A>C
BCL11A transcript variant 1 NM_022893.3:c.386-22075= NM_022893.3:c.386-22075A>G NM_022893.3:c.386-22075A>C
BCL11A transcript variant 1 NM_022893.4:c.386-22075= NM_022893.4:c.386-22075A>G NM_022893.4:c.386-22075A>C
BCL11A transcript variant 3 NM_138559.1:c.386-22075= NM_138559.1:c.386-22075A>G NM_138559.1:c.386-22075A>C
BCL11A transcript variant 3 NM_138559.2:c.386-22075= NM_138559.2:c.386-22075A>G NM_138559.2:c.386-22075A>C
BCL11A transcript variant X1 XM_011532909.1:c.386-22075= XM_011532909.1:c.386-22075A>G XM_011532909.1:c.386-22075A>C
BCL11A transcript variant X3 XM_011532910.1:c.386-22075= XM_011532910.1:c.386-22075A>G XM_011532910.1:c.386-22075A>C
BCL11A transcript variant X2 XM_017004333.1:c.380-22075= XM_017004333.1:c.380-22075A>G XM_017004333.1:c.380-22075A>C
BCL11A transcript variant X5 XM_017004335.1:c.380-28484= XM_017004335.1:c.380-28484A>G XM_017004335.1:c.380-28484A>C
BCL11A transcript variant X9 XM_017004336.1:c.53-22075= XM_017004336.1:c.53-22075A>G XM_017004336.1:c.53-22075A>C
BCL11A transcript variant X7 XM_024452962.1:c.230-22075= XM_024452962.1:c.230-22075A>G XM_024452962.1:c.230-22075A>C
BCL11A transcript variant X8 XM_024452963.1:c.230-22075= XM_024452963.1:c.230-22075A>G XM_024452963.1:c.230-22075A>C
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#.

128 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss2234683 Oct 23, 2000 (88)
2 SC_JCM ss5987482 Feb 20, 2003 (111)
3 WUGSC_SSAHASNP ss14478339 Dec 05, 2003 (119)
4 SSAHASNP ss21647539 Apr 05, 2004 (121)
5 PERLEGEN ss68816482 May 17, 2007 (127)
6 ILLUMINA ss74970787 Dec 07, 2007 (129)
7 HGSV ss84922792 Dec 16, 2007 (130)
8 BCMHGSC_JDW ss91182736 Mar 24, 2008 (129)
9 HUMANGENOME_JCVI ss96400303 Feb 06, 2009 (130)
10 BGI ss106093563 Feb 06, 2009 (130)
11 1000GENOMES ss109566723 Jan 24, 2009 (130)
12 1000GENOMES ss110356899 Jan 24, 2009 (130)
13 ILLUMINA-UK ss117729977 Feb 14, 2009 (130)
14 KRIBB_YJKIM ss119392217 Dec 01, 2009 (131)
15 ENSEMBL ss135839449 Dec 01, 2009 (131)
16 ENSEMBL ss138453906 Dec 01, 2009 (131)
17 GMI ss157130982 Dec 01, 2009 (131)
18 ILLUMINA ss160351795 Dec 01, 2009 (131)
19 COMPLETE_GENOMICS ss163503588 Jul 04, 2010 (132)
20 COMPLETE_GENOMICS ss164502040 Jul 04, 2010 (132)
21 COMPLETE_GENOMICS ss166669340 Jul 04, 2010 (132)
22 ILLUMINA ss172493622 Jul 04, 2010 (132)
23 BUSHMAN ss200518971 Jul 04, 2010 (132)
24 BCM-HGSC-SUB ss205659993 Jul 04, 2010 (132)
25 1000GENOMES ss219281721 Jul 14, 2010 (132)
26 1000GENOMES ss231193985 Jul 14, 2010 (132)
27 1000GENOMES ss238742964 Jul 15, 2010 (132)
28 ILLUMINA ss244279484 Jul 04, 2010 (132)
29 GMI ss276493439 May 04, 2012 (137)
30 GMI ss284355787 Apr 25, 2013 (138)
31 PJP ss292279919 May 09, 2011 (134)
32 ILLUMINA ss479969964 May 04, 2012 (137)
33 ILLUMINA ss479978502 May 04, 2012 (137)
34 ILLUMINA ss480625080 Sep 08, 2015 (146)
35 ILLUMINA ss484783216 May 04, 2012 (137)
36 EXOME_CHIP ss491319255 May 04, 2012 (137)
37 ILLUMINA ss536869953 Sep 08, 2015 (146)
38 TISHKOFF ss555605556 Apr 25, 2013 (138)
39 SSMP ss649193015 Apr 25, 2013 (138)
40 ILLUMINA ss778806231 Aug 21, 2014 (142)
41 ILLUMINA ss780681932 Aug 21, 2014 (142)
42 ILLUMINA ss782838274 Aug 21, 2014 (142)
43 ILLUMINA ss783355264 Aug 21, 2014 (142)
44 ILLUMINA ss783802979 Aug 21, 2014 (142)
45 ILLUMINA ss832091915 Apr 01, 2015 (144)
46 ILLUMINA ss834266445 Aug 21, 2014 (142)
47 EVA-GONL ss976898475 Aug 21, 2014 (142)
48 JMKIDD_LAB ss1069166603 Aug 21, 2014 (142)
49 1000GENOMES ss1297479790 Aug 21, 2014 (142)
50 HAMMER_LAB ss1397294255 Sep 08, 2015 (146)
51 DDI ss1428596662 Apr 01, 2015 (144)
52 EVA_GENOME_DK ss1578905925 Apr 01, 2015 (144)
53 EVA_DECODE ss1586312066 Apr 01, 2015 (144)
54 EVA_UK10K_ALSPAC ss1603647076 Apr 01, 2015 (144)
55 EVA_UK10K_TWINSUK ss1646641109 Apr 01, 2015 (144)
56 EVA_SVP ss1712460516 Apr 01, 2015 (144)
57 ILLUMINA ss1752364027 Sep 08, 2015 (146)
58 ILLUMINA ss1752364028 Sep 08, 2015 (146)
59 HAMMER_LAB ss1796832096 Sep 08, 2015 (146)
60 ILLUMINA ss1917749532 Feb 12, 2016 (147)
61 WEILL_CORNELL_DGM ss1920130004 Feb 12, 2016 (147)
62 ILLUMINA ss1946041717 Feb 12, 2016 (147)
63 ILLUMINA ss1958422905 Feb 12, 2016 (147)
64 GENOMED ss1968785664 Jul 19, 2016 (147)
65 JJLAB ss2020599127 Sep 14, 2016 (149)
66 ILLUMINA ss2094806359 Dec 20, 2016 (150)
67 ILLUMINA ss2095091812 Dec 20, 2016 (150)
68 USC_VALOUEV ss2148642880 Dec 20, 2016 (150)
69 HUMAN_LONGEVITY ss2230802866 Dec 20, 2016 (150)
70 TOPMED ss2396745456 Dec 20, 2016 (150)
71 SYSTEMSBIOZJU ss2624810026 Nov 08, 2017 (151)
72 ILLUMINA ss2633622506 Nov 08, 2017 (151)
73 ILLUMINA ss2633622507 Nov 08, 2017 (151)
74 ILLUMINA ss2633622508 Nov 08, 2017 (151)
75 GRF ss2703213441 Nov 08, 2017 (151)
76 GNOMAD ss2774155831 Nov 08, 2017 (151)
77 AFFY ss2985169374 Nov 08, 2017 (151)
78 AFFY ss2985797449 Nov 08, 2017 (151)
79 SWEGEN ss2989598423 Nov 08, 2017 (151)
80 ILLUMINA ss3021976782 Nov 08, 2017 (151)
81 ILLUMINA ss3021976783 Nov 08, 2017 (151)
82 BIOINF_KMB_FNS_UNIBA ss3024066434 Nov 08, 2017 (151)
83 TOPMED ss3309530743 Nov 08, 2017 (151)
84 TOPMED ss3309530744 Nov 08, 2017 (151)
85 CSHL ss3344257001 Nov 08, 2017 (151)
86 ILLUMINA ss3628077003 Oct 11, 2018 (152)
87 ILLUMINA ss3628077004 Oct 11, 2018 (152)
88 ILLUMINA ss3631588875 Oct 11, 2018 (152)
89 ILLUMINA ss3633202555 Oct 11, 2018 (152)
90 ILLUMINA ss3633914312 Oct 11, 2018 (152)
91 ILLUMINA ss3634769036 Oct 11, 2018 (152)
92 ILLUMINA ss3634769037 Oct 11, 2018 (152)
93 ILLUMINA ss3635600529 Oct 11, 2018 (152)
94 ILLUMINA ss3636455569 Oct 11, 2018 (152)
95 ILLUMINA ss3637352401 Oct 11, 2018 (152)
96 ILLUMINA ss3638263439 Oct 11, 2018 (152)
97 ILLUMINA ss3640476338 Oct 11, 2018 (152)
98 ILLUMINA ss3640476339 Oct 11, 2018 (152)
99 ILLUMINA ss3643233151 Oct 11, 2018 (152)
100 ILLUMINA ss3644744447 Oct 11, 2018 (152)
101 URBANLAB ss3647045335 Oct 11, 2018 (152)
102 ILLUMINA ss3652408929 Oct 11, 2018 (152)
103 ILLUMINA ss3652408930 Oct 11, 2018 (152)
104 ILLUMINA ss3653940098 Oct 11, 2018 (152)
105 EGCUT_WGS ss3657573707 Jul 13, 2019 (153)
106 EVA_DECODE ss3704005388 Jul 13, 2019 (153)
107 ILLUMINA ss3725790469 Jul 13, 2019 (153)
108 ACPOP ss3728484327 Jul 13, 2019 (153)
109 ILLUMINA ss3744475544 Jul 13, 2019 (153)
110 ILLUMINA ss3745068951 Jul 13, 2019 (153)
111 ILLUMINA ss3745068952 Jul 13, 2019 (153)
112 EVA ss3756833400 Jul 13, 2019 (153)
113 PAGE_CC ss3770923362 Jul 13, 2019 (153)
114 ILLUMINA ss3772565761 Jul 13, 2019 (153)
115 ILLUMINA ss3772565762 Jul 13, 2019 (153)
116 PACBIO ss3783876953 Jul 13, 2019 (153)
117 PACBIO ss3789462190 Jul 13, 2019 (153)
118 PACBIO ss3794335099 Jul 13, 2019 (153)
119 KHV_HUMAN_GENOMES ss3801203647 Jul 13, 2019 (153)
120 EVA ss3827010724 Apr 25, 2020 (154)
121 EVA ss3836915340 Apr 25, 2020 (154)
122 EVA ss3842331110 Apr 25, 2020 (154)
123 SGDP_PRJ ss3852390947 Apr 25, 2020 (154)
124 KRGDB ss3897870386 Apr 25, 2020 (154)
125 EVA ss3984483437 Apr 26, 2021 (155)
126 EVA ss3984897257 Apr 26, 2021 (155)
127 TOPMED ss4507833085 Apr 26, 2021 (155)
128 TOMMO_GENOMICS ss5151625253 Apr 26, 2021 (155)
129 1000Genomes NC_000002.11 - 60718043 Oct 11, 2018 (152)
130 The Avon Longitudinal Study of Parents and Children NC_000002.11 - 60718043 Oct 11, 2018 (152)
131 Genome-wide autozygosity in Daghestan NC_000002.10 - 60571547 Apr 25, 2020 (154)
132 Genetic variation in the Estonian population NC_000002.11 - 60718043 Oct 11, 2018 (152)
133 The Danish reference pan genome NC_000002.11 - 60718043 Apr 25, 2020 (154)
134 gnomAD - Genomes NC_000002.12 - 60490908 Apr 26, 2021 (155)
135 Genome of the Netherlands Release 5 NC_000002.11 - 60718043 Apr 25, 2020 (154)
136 HapMap NC_000002.12 - 60490908 Apr 25, 2020 (154)
137 KOREAN population from KRGDB NC_000002.11 - 60718043 Apr 25, 2020 (154)
138 Northern Sweden NC_000002.11 - 60718043 Jul 13, 2019 (153)
139 The PAGE Study NC_000002.12 - 60490908 Jul 13, 2019 (153)
140 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000002.11 - 60718043 Apr 26, 2021 (155)
141 CNV burdens in cranial meningiomas NC_000002.11 - 60718043 Apr 26, 2021 (155)
142 Qatari NC_000002.11 - 60718043 Apr 25, 2020 (154)
143 SGDP_PRJ NC_000002.11 - 60718043 Apr 25, 2020 (154)
144 Siberian NC_000002.11 - 60718043 Apr 25, 2020 (154)
145 8.3KJPN NC_000002.11 - 60718043 Apr 26, 2021 (155)
146 TopMed NC_000002.12 - 60490908 Apr 26, 2021 (155)
147 UK 10K study - Twins NC_000002.11 - 60718043 Oct 11, 2018 (152)
148 A Vietnamese Genetic Variation Database NC_000002.11 - 60718043 Jul 13, 2019 (153)
149 ALFA NC_000002.12 - 60490908 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)
rs61361884 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
9367944491, ss3309530743 NC_000002.12:60490907:T:C NC_000002.12:60490907:T:C (self)
ss84922792 NC_000002.9:60629693:T:G NC_000002.12:60490907:T:G (self)
244354, ss91182736, ss109566723, ss110356899, ss117729977, ss160351795, ss163503588, ss164502040, ss166669340, ss200518971, ss205659993, ss244279484, ss276493439, ss284355787, ss292279919, ss479969964, ss1397294255, ss1586312066, ss1712460516, ss3643233151 NC_000002.10:60571546:T:G NC_000002.12:60490907:T:G (self)
8431542, 4688164, 3311955, 5077163, 2061055, 5047780, 1769192, 123184, 32766, 2171934, 4407927, 1159234, 9594560, 4688164, 1018989, ss219281721, ss231193985, ss238742964, ss479978502, ss480625080, ss484783216, ss491319255, ss536869953, ss555605556, ss649193015, ss778806231, ss780681932, ss782838274, ss783355264, ss783802979, ss832091915, ss834266445, ss976898475, ss1069166603, ss1297479790, ss1428596662, ss1578905925, ss1603647076, ss1646641109, ss1752364027, ss1752364028, ss1796832096, ss1917749532, ss1920130004, ss1946041717, ss1958422905, ss1968785664, ss2020599127, ss2094806359, ss2095091812, ss2148642880, ss2396745456, ss2624810026, ss2633622506, ss2633622507, ss2633622508, ss2703213441, ss2774155831, ss2985169374, ss2985797449, ss2989598423, ss3021976782, ss3021976783, ss3344257001, ss3628077003, ss3628077004, ss3631588875, ss3633202555, ss3633914312, ss3634769036, ss3634769037, ss3635600529, ss3636455569, ss3637352401, ss3638263439, ss3640476338, ss3640476339, ss3644744447, ss3652408929, ss3652408930, ss3653940098, ss3657573707, ss3728484327, ss3744475544, ss3745068951, ss3745068952, ss3756833400, ss3772565761, ss3772565762, ss3783876953, ss3789462190, ss3794335099, ss3827010724, ss3836915340, ss3852390947, ss3897870386, ss3984483437, ss3984897257, ss5151625253 NC_000002.11:60718042:T:G NC_000002.12:60490907:T:G (self)
59850597, 1811539, 144831, 194442605, 311655964, 9367944491, ss2230802866, ss3024066434, ss3309530744, ss3647045335, ss3704005388, ss3725790469, ss3770923362, ss3801203647, ss3842331110, ss4507833085 NC_000002.12:60490907:T:G NC_000002.12:60490907:T:G (self)
ss14478339, ss21647539 NT_022184.13:39533974:T:G NC_000002.12:60490907:T:G (self)
ss2234683, ss5987482, ss68816482, ss74970787, ss96400303, ss106093563, ss119392217, ss135839449, ss138453906, ss157130982, ss172493622 NT_022184.15:39539929:T:G NC_000002.12:60490907:T:G (self)
Help

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

28 citations for rs1427407
PMID Title Author Year Journal
19474294 Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Hindorff LA et al. 2009 Proceedings of the National Academy of Sciences of the United States of America
21829388 Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA. Fehrmann RS et al. 2011 PLoS genetics
21876119 Pharmacokinetics, pharmacodynamics, and pharmacogenetics of hydroxyurea treatment for children with sickle cell anemia. Ware RE et al. 2011 Blood
22058279 Beta-thalassemia: from genotype to phenotype. Danjou F et al. 2011 Haematologica
24661571 Laying a solid foundation for Manhattan--'setting the functional basis for the post-GWAS era'. Zhang X et al. 2014 Trends in genetics
25457385 Genetic variant in the BCL11A (rs1427407), but not HBS1-MYB (rs6934903) loci associate with fetal hemoglobin levels in Indian sickle cell disease patients. Bhanushali AA et al. 2015 Blood cells, molecules & diseases
25473424 Enhancer variants: evaluating functions in common disease. Corradin O et al. 2014 Genome medicine
25703683 BCL11A enhancer haplotypes and fetal hemoglobin in sickle cell anemia. Sebastiani P et al. 2015 Blood cells, molecules & diseases
25751242 Genetic Modifiers in β-Thalassemia Intermedia: A Study on 102 Iraqi Arab Patients. Al-Allawi NA et al. 2015 Genetic testing and molecular biomarkers
26215470 Genomic approaches to identifying targets for treating β hemoglobinopathies. Ngo DA et al. 2015 BMC medical genomics
26393293 Association between Variants at BCL11A Erythroid-Specific Enhancer and Fetal Hemoglobin Levels among Sickle Cell Disease Patients in Cameroon: Implications for Future Therapeutic Interventions. Pule GD et al. 2015 Omics
27022141 Original Research: A case-control genome-wide association study identifies genetic modifiers of fetal hemoglobin in sickle cell disease. Liu L et al. 2016 Experimental biology and medicine (Maywood, N.J.)
27149463 Association Between PIP4K2A Polymorphisms and Acute Lymphoblastic Leukemia Susceptibility. Liao F et al. 2016 Medicine
27636225 An Expert Review of Pharmacogenomics of Sickle Cell Disease Therapeutics: Not Yet Ready for Global Precision Medicine. Mnika K et al. 2016 Omics
28868518 Associations of α-thalassemia and BCL11A with stroke in Nigerian, United States, and United Kingdom sickle cell anemia cohorts. Saraf SL et al. 2017 Blood advances
29437638 <i>g(HbF)</i>: a genetic model of fetal hemoglobin in sickle cell disease. Gardner K et al. 2018 Blood advances
29555644 Biological impact of α genes, β haplotypes, and G6PD activity in sickle cell anemia at baseline and with hydroxyurea. Bernaudin F et al. 2018 Blood advances
29879141 A survey of genetic fetal-haemoglobin modifiers in Nigerian patients with sickle cell anaemia. Adeyemo TA et al. 2018 PloS one
30216683 The association of HBG2, BCL11A, and HMIP polymorphisms with fetal hemoglobin and clinical phenotype in Iraqi Kurds with sickle cell disease. Al-Allawi N et al. 2019 International journal of laboratory hematology
30478714 Genetic Modifiers of Fetal Haemoglobin in Sickle Cell Disease. Menzel S et al. 2019 Molecular diagnosis & therapy
30563533 Using the human blood index to investigate host biting plasticity: a systematic review and meta-regression of the three major African malaria vectors. Orsborne J et al. 2018 Malaria journal
31322815 Combined and differential effects of alpha-thalassemia and HbF-quantitative trait loci in Senegalese hydroxyurea-free children with sickle cell anemia. Gueye Tall F et al. 2019 Pediatric blood & cancer
31603010 Genetic Background of β-Thalassemia in Northeast Algeria with Assessment of the Thalassemia Severity Score and Description of a new β<sup>0</sup>-Thalassemia Frameshift Mutation (<i>HBB</i>: c.374dup; p.Pro126Thrfs*15). Abdaoui W et al. 2019 Hemoglobin
32319326 Multi-Locus Models to Address Hb F Variability in Portuguese β-Thalassemia Carriers. Manco L et al. 2020 Hemoglobin
32387854 The association of HBG2, BCL11A, and HBS1L-MYB polymorphisms to thalidomide response in Chinese β-thalassemia patients. Yang K et al. 2020 Blood cells, molecules & diseases
32447424 Functional polymorphisms of BCL11A and HBS1L-MYB genes affect both fetal hemoglobin level and clinical outcomes in a cohort of children with sickle cell anemia. Sales RR et al. 2020 Annals of hematology
32563256 High fetal hemoglobin level is associated with increased risk of cerebral vasculopathy in children with sickle cell disease in Mayotte. Chamouine A et al. 2020 BMC pediatrics
32631379 Sickle cell disease in Sri Lanka: clinical and molecular basis and the unanswered questions about disease severity. Darshana T et al. 2020 Orphanet journal of rare diseases
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.post629+eb05767