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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.

rs7955866

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr12:4370383 (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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.119653 (31671/264690, TOPMED)
A=0.129109 (32353/250586, GnomAD_exome)
A=0.110629 (26030/235290, ALFA) (+ 23 more)
A=0.113854 (15948/140074, GnomAD)
A=0.123884 (14964/120790, ExAC)
A=0.12569 (2106/16756, 8.3KJPN)
A=0.10534 (1370/13006, GO-ESP)
A=0.1474 (738/5008, 1000G)
A=0.1228 (550/4478, Estonian)
A=0.1251 (482/3854, ALSPAC)
A=0.1216 (451/3708, TWINSUK)
A=0.1164 (340/2920, KOREAN)
A=0.1411 (294/2084, HGDP_Stanford)
A=0.1148 (217/1890, HapMap)
A=0.0750 (85/1134, Daghestan)
A=0.120 (120/998, GoNL)
A=0.177 (140/790, PRJEB37584)
A=0.299 (182/608, Vietnamese)
A=0.130 (78/600, NorthernSweden)
A=0.099 (53/534, MGP)
A=0.112 (34/304, FINRISK)
A=0.102 (22/216, Qatari)
G=0.432 (51/118, SGDP_PRJ)
A=0.07 (6/86, Ancient Sardinia)
A=0.10 (4/40, GENOME_DK)
G=0.45 (10/22, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
FGF23 : Missense Variant
Publications
9 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 235290 G=0.889371 A=0.110629
European Sub 198674 G=0.891088 A=0.108912
African Sub 10250 G=0.91971 A=0.08029
African Others Sub 350 G=0.906 A=0.094
African American Sub 9900 G=0.9202 A=0.0798
Asian Sub 718 G=0.786 A=0.214
East Asian Sub 562 G=0.815 A=0.185
Other Asian Sub 156 G=0.679 A=0.321
Latin American 1 Sub 1132 G=0.8931 A=0.1069
Latin American 2 Sub 6432 G=0.7900 A=0.2100
South Asian Sub 5036 G=0.8906 A=0.1094
Other Sub 13048 G=0.89332 A=0.10668


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=0.880347 A=0.119653
gnomAD - Exomes Global Study-wide 250586 G=0.870891 A=0.129109
gnomAD - Exomes European Sub 134756 G=0.886343 A=0.113657
gnomAD - Exomes Asian Sub 48972 G=0.85241 A=0.14759
gnomAD - Exomes American Sub 34584 G=0.79745 A=0.20255
gnomAD - Exomes African Sub 16094 G=0.91413 A=0.08587
gnomAD - Exomes Ashkenazi Jewish Sub 10066 G=0.93384 A=0.06616
gnomAD - Exomes Other Sub 6114 G=0.8763 A=0.1237
Allele Frequency Aggregator Total Global 235290 G=0.889371 A=0.110629
Allele Frequency Aggregator European Sub 198674 G=0.891088 A=0.108912
Allele Frequency Aggregator Other Sub 13048 G=0.89332 A=0.10668
Allele Frequency Aggregator African Sub 10250 G=0.91971 A=0.08029
Allele Frequency Aggregator Latin American 2 Sub 6432 G=0.7900 A=0.2100
Allele Frequency Aggregator South Asian Sub 5036 G=0.8906 A=0.1094
Allele Frequency Aggregator Latin American 1 Sub 1132 G=0.8931 A=0.1069
Allele Frequency Aggregator Asian Sub 718 G=0.786 A=0.214
gnomAD - Genomes Global Study-wide 140074 G=0.886146 A=0.113854
gnomAD - Genomes European Sub 75854 G=0.88600 A=0.11400
gnomAD - Genomes African Sub 41974 G=0.91845 A=0.08155
gnomAD - Genomes American Sub 13642 G=0.79944 A=0.20056
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.9383 A=0.0617
gnomAD - Genomes East Asian Sub 3132 G=0.7893 A=0.2107
gnomAD - Genomes Other Sub 2148 G=0.8710 A=0.1290
ExAC Global Study-wide 120790 G=0.876116 A=0.123884
ExAC Europe Sub 72994 G=0.88911 A=0.11089
ExAC Asian Sub 25136 G=0.85944 A=0.14056
ExAC American Sub 11572 G=0.79623 A=0.20377
ExAC African Sub 10186 G=0.91488 A=0.08512
ExAC Other Sub 902 G=0.876 A=0.124
8.3KJPN JAPANESE Study-wide 16756 G=0.87431 A=0.12569
GO Exome Sequencing Project Global Study-wide 13006 G=0.89466 A=0.10534
GO Exome Sequencing Project European American Sub 8600 G=0.8869 A=0.1131
GO Exome Sequencing Project African American Sub 4406 G=0.9099 A=0.0901
1000Genomes Global Study-wide 5008 G=0.8526 A=0.1474
1000Genomes African Sub 1322 G=0.9115 A=0.0885
1000Genomes East Asian Sub 1008 G=0.7698 A=0.2302
1000Genomes Europe Sub 1006 G=0.8807 A=0.1193
1000Genomes South Asian Sub 978 G=0.880 A=0.120
1000Genomes American Sub 694 G=0.781 A=0.219
Genetic variation in the Estonian population Estonian Study-wide 4478 G=0.8772 A=0.1228
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.8749 A=0.1251
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.8784 A=0.1216
KOREAN population from KRGDB KOREAN Study-wide 2920 G=0.8836 A=0.1164
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 G=0.8589 A=0.1411
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 G=0.772 A=0.228
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 G=0.899 A=0.101
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 G=0.943 A=0.057
HGDP-CEPH-db Supplement 1 Europe Sub 320 G=0.878 A=0.122
HGDP-CEPH-db Supplement 1 Africa Sub 242 G=0.950 A=0.050
HGDP-CEPH-db Supplement 1 America Sub 216 G=0.657 A=0.343
HGDP-CEPH-db Supplement 1 Oceania Sub 72 G=1.00 A=0.00
HapMap Global Study-wide 1890 G=0.8852 A=0.1148
HapMap American Sub 770 G=0.871 A=0.129
HapMap African Sub 690 G=0.903 A=0.097
HapMap Asian Sub 254 G=0.866 A=0.134
HapMap Europe Sub 176 G=0.903 A=0.097
Genome-wide autozygosity in Daghestan Global Study-wide 1134 G=0.9250 A=0.0750
Genome-wide autozygosity in Daghestan Daghestan Sub 626 G=0.933 A=0.067
Genome-wide autozygosity in Daghestan Near_East Sub 144 G=0.938 A=0.062
Genome-wide autozygosity in Daghestan Central Asia Sub 122 G=0.861 A=0.139
Genome-wide autozygosity in Daghestan Europe Sub 108 G=0.917 A=0.083
Genome-wide autozygosity in Daghestan South Asian Sub 98 G=0.95 A=0.05
Genome-wide autozygosity in Daghestan Caucasus Sub 36 G=0.92 A=0.08
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.880 A=0.120
CNV burdens in cranial meningiomas Global Study-wide 790 G=0.823 A=0.177
CNV burdens in cranial meningiomas CRM Sub 790 G=0.823 A=0.177
A Vietnamese Genetic Variation Database Global Study-wide 608 G=0.701 A=0.299
Northern Sweden ACPOP Study-wide 600 G=0.870 A=0.130
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.901 A=0.099
FINRISK Finnish from FINRISK project Study-wide 304 G=0.888 A=0.112
Qatari Global Study-wide 216 G=0.898 A=0.102
SGDP_PRJ Global Study-wide 118 G=0.432 A=0.568
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 86 G=0.93 A=0.07
The Danish reference pan genome Danish Study-wide 40 G=0.90 A=0.10
Siberian Global Study-wide 22 G=0.45 A=0.55
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 12 NC_000012.12:g.4370383G>A
GRCh37.p13 chr 12 NC_000012.11:g.4479549G>A
FGF23 RefSeqGene NG_007087.1:g.14346C>T
Gene: FGF23, fibroblast growth factor 23 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
FGF23 transcript NM_020638.3:c.716C>T T [ACG] > M [ATG] Coding Sequence Variant
fibroblast growth factor 23 precursor NP_065689.1:p.Thr239Met T (Thr) > M (Met) 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.

Allele: A (allele ID: 330952 )
ClinVar Accession Disease Names Clinical Significance
RCV000262068.2 Tumoral calcinosis, hyperphosphatemic, familial, 2 Benign
RCV000321863.2 Autosomal dominant hypophosphatemic rickets Benign
RCV000518652.2 not specified 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
GRCh38.p13 chr 12 NC_000012.12:g.4370383= NC_000012.12:g.4370383G>A
GRCh37.p13 chr 12 NC_000012.11:g.4479549= NC_000012.11:g.4479549G>A
FGF23 RefSeqGene NG_007087.1:g.14346= NG_007087.1:g.14346C>T
FGF23 transcript NM_020638.3:c.716= NM_020638.3:c.716C>T
FGF23 transcript NM_020638.2:c.716= NM_020638.2:c.716C>T
fibroblast growth factor 23 precursor NP_065689.1:p.Thr239= NP_065689.1:p.Thr239Met
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#.

121 SubSNP, 26 Frequency, 3 ClinVar submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss12180771 Jul 11, 2003 (116)
2 SC_SNP ss16202377 Feb 27, 2004 (120)
3 EGP_SNPS ss22969966 Apr 05, 2004 (121)
4 PERLEGEN ss24694339 Sep 20, 2004 (123)
5 APPLERA_GI ss48422735 Mar 13, 2006 (126)
6 ILLUMINA ss66819903 Dec 01, 2006 (127)
7 EGP_SNPS ss66860291 Dec 01, 2006 (127)
8 ILLUMINA ss67852462 Dec 01, 2006 (127)
9 ILLUMINA ss68004679 Dec 01, 2006 (127)
10 ILLUMINA ss70960787 May 23, 2008 (130)
11 ILLUMINA ss71569253 May 18, 2007 (127)
12 AFFY ss74806156 Aug 16, 2007 (128)
13 ILLUMINA ss75810794 Dec 06, 2007 (129)
14 HGSV ss77601285 Dec 06, 2007 (129)
15 ILLUMINA ss79276067 Dec 14, 2007 (130)
16 KRIBB_YJKIM ss84757617 Dec 14, 2007 (130)
17 CNG ss98336983 Feb 04, 2009 (130)
18 1000GENOMES ss113094958 Jan 25, 2009 (130)
19 ILLUMINA ss122870516 Dec 01, 2009 (131)
20 ILLUMINA ss154458824 Dec 01, 2009 (131)
21 ILLUMINA ss159633444 Dec 01, 2009 (131)
22 SEATTLESEQ ss159725372 Dec 01, 2009 (131)
23 ILLUMINA ss160933023 Dec 01, 2009 (131)
24 COMPLETE_GENOMICS ss168915662 Jul 04, 2010 (132)
25 COMPLETE_GENOMICS ss170293564 Jul 04, 2010 (132)
26 ILLUMINA ss172374463 Jul 04, 2010 (132)
27 ILLUMINA ss174637874 Jul 04, 2010 (132)
28 BUSHMAN ss203479404 Jul 04, 2010 (132)
29 1000GENOMES ss225579382 Jul 14, 2010 (132)
30 1000GENOMES ss235803414 Jul 15, 2010 (132)
31 1000GENOMES ss242386260 Jul 15, 2010 (132)
32 BL ss254832632 May 09, 2011 (134)
33 GMI ss281251820 May 04, 2012 (137)
34 NHLBI-ESP ss342347027 May 09, 2011 (134)
35 ILLUMINA ss481730843 May 04, 2012 (137)
36 ILLUMINA ss481762366 May 04, 2012 (137)
37 ILLUMINA ss482727715 Sep 08, 2015 (146)
38 ILLUMINA ss485660159 May 04, 2012 (137)
39 1000GENOMES ss491034568 May 04, 2012 (137)
40 EXOME_CHIP ss491462692 May 04, 2012 (137)
41 CLINSEQ_SNP ss491658349 May 04, 2012 (137)
42 ILLUMINA ss537535780 Sep 08, 2015 (146)
43 TISHKOFF ss562962296 Apr 25, 2013 (138)
44 SSMP ss658488288 Apr 25, 2013 (138)
45 ILLUMINA ss778713514 Aug 21, 2014 (142)
46 ILLUMINA ss783275641 Sep 08, 2015 (146)
47 ILLUMINA ss784228734 Aug 21, 2014 (142)
48 ILLUMINA ss825606585 Apr 01, 2015 (144)
49 ILLUMINA ss832536719 Sep 08, 2015 (146)
50 ILLUMINA ss833144321 Jul 13, 2019 (153)
51 ILLUMINA ss834172722 Aug 21, 2014 (142)
52 JMKIDD_LAB ss974482171 Aug 21, 2014 (142)
53 EVA-GONL ss989184832 Aug 21, 2014 (142)
54 JMKIDD_LAB ss1067530594 Aug 21, 2014 (142)
55 JMKIDD_LAB ss1078210160 Aug 21, 2014 (142)
56 1000GENOMES ss1343803743 Aug 21, 2014 (142)
57 HAMMER_LAB ss1397624123 Sep 08, 2015 (146)
58 EVA_GENOME_DK ss1576082302 Apr 01, 2015 (144)
59 EVA_FINRISK ss1584079657 Apr 01, 2015 (144)
60 EVA_DECODE ss1598856117 Apr 01, 2015 (144)
61 EVA_UK10K_ALSPAC ss1627916388 Apr 01, 2015 (144)
62 EVA_UK10K_TWINSUK ss1670910421 Apr 01, 2015 (144)
63 EVA_EXAC ss1690744557 Apr 01, 2015 (144)
64 EVA_MGP ss1711317108 Apr 01, 2015 (144)
65 EVA_SVP ss1713302797 Apr 01, 2015 (144)
66 WEILL_CORNELL_DGM ss1932545826 Feb 12, 2016 (147)
67 ILLUMINA ss1959407515 Feb 12, 2016 (147)
68 JJLAB ss2027020013 Sep 14, 2016 (149)
69 USC_VALOUEV ss2155339457 Dec 20, 2016 (150)
70 HUMAN_LONGEVITY ss2187413660 Dec 20, 2016 (150)
71 TOPMED ss2351019307 Dec 20, 2016 (150)
72 SYSTEMSBIOZJU ss2627986903 Nov 08, 2017 (151)
73 ILLUMINA ss2632918076 Nov 08, 2017 (151)
74 ILLUMINA ss2635032933 Nov 08, 2017 (151)
75 GRF ss2699659300 Nov 08, 2017 (151)
76 GNOMAD ss2739561726 Nov 08, 2017 (151)
77 GNOMAD ss2748791998 Nov 08, 2017 (151)
78 GNOMAD ss2906778546 Nov 08, 2017 (151)
79 AFFY ss2984965308 Nov 08, 2017 (151)
80 SWEGEN ss3009118295 Nov 08, 2017 (151)
81 ILLUMINA ss3021400267 Nov 08, 2017 (151)
82 BIOINF_KMB_FNS_UNIBA ss3027313323 Nov 08, 2017 (151)
83 TOPMED ss3161680547 Nov 08, 2017 (151)
84 CSHL ss3349896200 Nov 08, 2017 (151)
85 ILLUMINA ss3626803127 Oct 12, 2018 (152)
86 ILLUMINA ss3630930065 Oct 12, 2018 (152)
87 ILLUMINA ss3633008195 Oct 12, 2018 (152)
88 ILLUMINA ss3633708593 Oct 12, 2018 (152)
89 ILLUMINA ss3634487591 Oct 12, 2018 (152)
90 ILLUMINA ss3635399685 Oct 12, 2018 (152)
91 ILLUMINA ss3636171940 Oct 12, 2018 (152)
92 ILLUMINA ss3637150627 Oct 12, 2018 (152)
93 ILLUMINA ss3637943702 Oct 12, 2018 (152)
94 ILLUMINA ss3638985864 Oct 12, 2018 (152)
95 ILLUMINA ss3639494555 Oct 12, 2018 (152)
96 ILLUMINA ss3640194926 Oct 12, 2018 (152)
97 ILLUMINA ss3642939064 Oct 12, 2018 (152)
98 OMUKHERJEE_ADBS ss3646436214 Oct 12, 2018 (152)
99 ILLUMINA ss3651772084 Oct 12, 2018 (152)
100 ILLUMINA ss3653737554 Oct 12, 2018 (152)
101 EGCUT_WGS ss3676449434 Jul 13, 2019 (153)
102 EVA_DECODE ss3693012702 Jul 13, 2019 (153)
103 ACPOP ss3738724674 Jul 13, 2019 (153)
104 ILLUMINA ss3744788319 Jul 13, 2019 (153)
105 EVA ss3750078598 Jul 13, 2019 (153)
106 KHV_HUMAN_GENOMES ss3815394879 Jul 13, 2019 (153)
107 EVA ss3824695345 Apr 26, 2020 (154)
108 EVA ss3825814755 Apr 26, 2020 (154)
109 EVA ss3832947169 Apr 26, 2020 (154)
110 HGDP ss3847439572 Apr 26, 2020 (154)
111 SGDP_PRJ ss3877579138 Apr 26, 2020 (154)
112 KRGDB ss3926076798 Apr 26, 2020 (154)
113 FSA-LAB ss3984019135 Apr 26, 2021 (155)
114 EVA ss3984661321 Apr 26, 2021 (155)
115 EVA ss3985572169 Apr 26, 2021 (155)
116 EVA ss3986057796 Apr 26, 2021 (155)
117 EVA ss3986555184 Apr 26, 2021 (155)
118 EVA ss4017571124 Apr 26, 2021 (155)
119 TOPMED ss4907030010 Apr 26, 2021 (155)
120 TOMMO_GENOMICS ss5204831737 Apr 26, 2021 (155)
121 EVA ss5236901949 Apr 26, 2021 (155)
122 1000Genomes NC_000012.11 - 4479549 Oct 12, 2018 (152)
123 The Avon Longitudinal Study of Parents and Children NC_000012.11 - 4479549 Oct 12, 2018 (152)
124 Genome-wide autozygosity in Daghestan NC_000012.10 - 4349810 Apr 26, 2020 (154)
125 Genetic variation in the Estonian population NC_000012.11 - 4479549 Oct 12, 2018 (152)
126 ExAC NC_000012.11 - 4479549 Oct 12, 2018 (152)
127 FINRISK NC_000012.11 - 4479549 Apr 26, 2020 (154)
128 The Danish reference pan genome NC_000012.11 - 4479549 Apr 26, 2020 (154)
129 gnomAD - Genomes NC_000012.12 - 4370383 Apr 26, 2021 (155)
130 gnomAD - Exomes NC_000012.11 - 4479549 Jul 13, 2019 (153)
131 GO Exome Sequencing Project NC_000012.11 - 4479549 Oct 12, 2018 (152)
132 Genome of the Netherlands Release 5 NC_000012.11 - 4479549 Apr 26, 2020 (154)
133 HGDP-CEPH-db Supplement 1 NC_000012.10 - 4349810 Apr 26, 2020 (154)
134 HapMap NC_000012.12 - 4370383 Apr 26, 2020 (154)
135 KOREAN population from KRGDB NC_000012.11 - 4479549 Apr 26, 2020 (154)
136 Medical Genome Project healthy controls from Spanish population NC_000012.11 - 4479549 Apr 26, 2020 (154)
137 Northern Sweden NC_000012.11 - 4479549 Jul 13, 2019 (153)
138 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000012.11 - 4479549 Apr 26, 2021 (155)
139 CNV burdens in cranial meningiomas NC_000012.11 - 4479549 Apr 26, 2021 (155)
140 Qatari NC_000012.11 - 4479549 Apr 26, 2020 (154)
141 SGDP_PRJ NC_000012.11 - 4479549 Apr 26, 2020 (154)
142 Siberian NC_000012.11 - 4479549 Apr 26, 2020 (154)
143 8.3KJPN NC_000012.11 - 4479549 Apr 26, 2021 (155)
144 TopMed NC_000012.12 - 4370383 Apr 26, 2021 (155)
145 UK 10K study - Twins NC_000012.11 - 4479549 Oct 12, 2018 (152)
146 A Vietnamese Genetic Variation Database NC_000012.11 - 4479549 Jul 13, 2019 (153)
147 ALFA NC_000012.12 - 4370383 Apr 26, 2021 (155)
148 ClinVar RCV000262068.2 Apr 26, 2021 (155)
149 ClinVar RCV000321863.2 Apr 26, 2021 (155)
150 ClinVar RCV000518652.2 Oct 12, 2018 (152)
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)
rs17773107 Oct 08, 2004 (123)
rs52807989 Sep 21, 2007 (128)
rs57346029 May 23, 2008 (130)
rs386614323 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77601285, ss3638985864, ss3639494555 NC_000012.9:4349809:G:A NC_000012.12:4370382:G:A (self)
95146, 117464, ss113094958, ss168915662, ss170293564, ss203479404, ss254832632, ss281251820, ss481730843, ss491658349, ss825606585, ss1397624123, ss1598856117, ss1713302797, ss2635032933, ss3642939064, ss3847439572 NC_000012.10:4349809:G:A NC_000012.12:4370382:G:A (self)
56415037, 31329618, 22187682, 1028417, 76118, 2822086, 8785521, 1152853, 13976056, 33254192, 432868, 12009539, 798096, 210812, 14587756, 29596118, 7855811, 62801044, 31329618, 6949857, ss225579382, ss235803414, ss242386260, ss342347027, ss481762366, ss482727715, ss485660159, ss491034568, ss491462692, ss537535780, ss562962296, ss658488288, ss778713514, ss783275641, ss784228734, ss832536719, ss833144321, ss834172722, ss974482171, ss989184832, ss1067530594, ss1078210160, ss1343803743, ss1576082302, ss1584079657, ss1627916388, ss1670910421, ss1690744557, ss1711317108, ss1932545826, ss1959407515, ss2027020013, ss2155339457, ss2351019307, ss2627986903, ss2632918076, ss2699659300, ss2739561726, ss2748791998, ss2906778546, ss2984965308, ss3009118295, ss3021400267, ss3349896200, ss3626803127, ss3630930065, ss3633008195, ss3633708593, ss3634487591, ss3635399685, ss3636171940, ss3637150627, ss3637943702, ss3640194926, ss3646436214, ss3651772084, ss3653737554, ss3676449434, ss3738724674, ss3744788319, ss3750078598, ss3824695345, ss3825814755, ss3832947169, ss3877579138, ss3926076798, ss3984019135, ss3984661321, ss3985572169, ss3986057796, ss3986555184, ss4017571124, ss5204831737 NC_000012.11:4479548:G:A NC_000012.12:4370382:G:A (self)
RCV000262068.2, RCV000321863.2, RCV000518652.2, 397854380, 745047, 76802570, 122575667, 13935969330, ss2187413660, ss3027313323, ss3161680547, ss3693012702, ss3815394879, ss4907030010, ss5236901949 NC_000012.12:4370382:G:A NC_000012.12:4370382:G:A (self)
ss12180771, ss16202377 NT_009759.15:4333809:G:A NC_000012.12:4370382:G:A (self)
ss22969966, ss24694339, ss48422735, ss66819903, ss66860291, ss67852462, ss68004679, ss70960787, ss71569253, ss74806156, ss75810794, ss79276067, ss84757617, ss98336983, ss122870516, ss154458824, ss159633444, ss159725372, ss160933023, ss172374463, ss174637874 NT_009759.16:4419548:G:A NC_000012.12:4370382:G:A (self)
Help

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

9 citations for rs7955866
PMID Title Author Year Journal
11062477 Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. ADHR Consortium. et al. 2000 Nature genetics
20394945 Infantile hypercalcemia and hypercalciuria: new insights into a vitamin D-dependent mechanism and response to ketoconazole treatment. Nguyen M et al. 2010 The Journal of pediatrics
21050253 Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets. Ruppe MD et al. 2011 Clinical endocrinology
21565945 Lack of association of Klotho gene variants with valvular and vascular calcification in Caucasians: a candidate gene study of the Framingham Offspring Cohort. Tangri N et al. 2011 Nephrology, dialysis, transplantation
22419710 A functional allelic variant of the FGF23 gene is associated with renal phosphate leak in calcium nephrolithiasis. Rendina D et al. 2012 The Journal of clinical endocrinology and metabolism
24053368 Single nucleotide polymorphisms in fibroblast growth factor 23 gene, FGF23, are associated with prostate cancer risk. Kim HJ et al. 2014 BJU international
25257970 Senescence is involved in the pathogenesis of chronic obstructive pulmonary disease through effects on telomeres and the anti-aging molecule fibroblast growth factor 23. Ishii T et al. 2015 Geriatrics & gerontology international
25445451 FGF23 gene variation and its association with phosphate homeostasis and bone mineral density in Finnish children and adolescents. Pekkinen M et al. 2015 Bone
29336609 Fibroblast growth factor 23 (FGF23) gene polymorphisms are associated with essential hypertension risk and blood pressure levels in Chinese Han population. Cai P et al. 2018 Clinical and experimental hypertension (New York, N.Y.
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.post676+237644a