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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.

rs1040461

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:57190556 (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
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.079484 (28516/358762, ALFA)
T=0.111761 (29582/264690, TOPMED)
T=0.098327 (24708/251284, GnomAD_exome) (+ 28 more)
T=0.118503 (16602/140098, GnomAD)
T=0.097903 (11885/121396, ExAC)
T=0.13442 (10579/78702, PAGE_STUDY)
T=0.04728 (1336/28258, 14KJPN)
T=0.04761 (798/16760, 8.3KJPN)
T=0.11502 (1496/13006, GO-ESP)
T=0.1171 (750/6404, 1000G_30x)
T=0.1154 (578/5008, 1000G)
T=0.1094 (490/4480, Estonian)
T=0.0794 (306/3854, ALSPAC)
T=0.0806 (299/3708, TWINSUK)
T=0.0561 (164/2922, KOREAN)
T=0.1132 (236/2084, HGDP_Stanford)
T=0.1126 (213/1892, HapMap)
T=0.0753 (138/1832, Korea1K)
T=0.0387 (44/1136, Daghestan)
T=0.088 (88/998, GoNL)
T=0.078 (62/792, PRJEB37584)
T=0.120 (74/616, Vietnamese)
T=0.090 (54/600, NorthernSweden)
T=0.069 (37/534, MGP)
T=0.155 (47/304, FINRISK)
T=0.046 (10/216, Qatari)
C=0.409 (45/110, SGDP_PRJ)
T=0.03 (2/74, Ancient Sardinia)
T=0.07 (3/40, GENOME_DK)
C=0.50 (6/12, Siberian)
T=0.50 (6/12, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
RAB23 : Missense Variant
Publications
4 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 375254 C=0.918999 T=0.081001
European Sub 314824 C=0.925120 T=0.074880
African Sub 16522 C=0.82206 T=0.17794
African Others Sub 592 C=0.801 T=0.199
African American Sub 15930 C=0.82285 T=0.17715
Asian Sub 6932 C=0.9162 T=0.0838
East Asian Sub 4964 C=0.9245 T=0.0755
Other Asian Sub 1968 C=0.8953 T=0.1047
Latin American 1 Sub 1484 C=0.9232 T=0.0768
Latin American 2 Sub 7228 C=0.8839 T=0.1161
South Asian Sub 5226 C=0.9189 T=0.0811
Other Sub 23038 C=0.91649 T=0.08351


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 358762 C=0.920516 T=0.079484
Allele Frequency Aggregator European Sub 304614 C=0.925302 T=0.074698
Allele Frequency Aggregator Other Sub 21586 C=0.91772 T=0.08228
Allele Frequency Aggregator African Sub 11692 C=0.82655 T=0.17345
Allele Frequency Aggregator Latin American 2 Sub 7228 C=0.8839 T=0.1161
Allele Frequency Aggregator Asian Sub 6932 C=0.9162 T=0.0838
Allele Frequency Aggregator South Asian Sub 5226 C=0.9189 T=0.0811
Allele Frequency Aggregator Latin American 1 Sub 1484 C=0.9232 T=0.0768
TopMed Global Study-wide 264690 C=0.888239 T=0.111761
gnomAD - Exomes Global Study-wide 251284 C=0.901673 T=0.098327
gnomAD - Exomes European Sub 135220 C=0.905051 T=0.094949
gnomAD - Exomes Asian Sub 49008 C=0.91475 T=0.08525
gnomAD - Exomes American Sub 34590 C=0.88867 T=0.11133
gnomAD - Exomes African Sub 16256 C=0.81797 T=0.18203
gnomAD - Exomes Ashkenazi Jewish Sub 10078 C=0.96299 T=0.03701
gnomAD - Exomes Other Sub 6132 C=0.9172 T=0.0828
gnomAD - Genomes Global Study-wide 140098 C=0.881497 T=0.118503
gnomAD - Genomes European Sub 75870 C=0.90569 T=0.09431
gnomAD - Genomes African Sub 41966 C=0.81878 T=0.18122
gnomAD - Genomes American Sub 13656 C=0.91469 T=0.08531
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=0.9606 T=0.0394
gnomAD - Genomes East Asian Sub 3130 C=0.8984 T=0.1016
gnomAD - Genomes Other Sub 2152 C=0.8941 T=0.1059
ExAC Global Study-wide 121396 C=0.902097 T=0.097903
ExAC Europe Sub 73350 C=0.91096 T=0.08904
ExAC Asian Sub 25158 C=0.91708 T=0.08292
ExAC American Sub 11574 C=0.88699 T=0.11301
ExAC African Sub 10406 C=0.81972 T=0.18028
ExAC Other Sub 908 C=0.907 T=0.093
The PAGE Study Global Study-wide 78702 C=0.86558 T=0.13442
The PAGE Study AfricanAmerican Sub 32516 C=0.82547 T=0.17453
The PAGE Study Mexican Sub 10810 C=0.88733 T=0.11267
The PAGE Study Asian Sub 8318 C=0.9360 T=0.0640
The PAGE Study PuertoRican Sub 7918 C=0.8908 T=0.1092
The PAGE Study NativeHawaiian Sub 4534 C=0.8083 T=0.1917
The PAGE Study Cuban Sub 4230 C=0.9118 T=0.0882
The PAGE Study Dominican Sub 3828 C=0.8945 T=0.1055
The PAGE Study CentralAmerican Sub 2450 C=0.9078 T=0.0922
The PAGE Study SouthAmerican Sub 1982 C=0.9026 T=0.0974
The PAGE Study NativeAmerican Sub 1260 C=0.8841 T=0.1159
The PAGE Study SouthAsian Sub 856 C=0.909 T=0.091
14KJPN JAPANESE Study-wide 28258 C=0.95272 T=0.04728
8.3KJPN JAPANESE Study-wide 16760 C=0.95239 T=0.04761
GO Exome Sequencing Project Global Study-wide 13006 C=0.88498 T=0.11502
GO Exome Sequencing Project European American Sub 8600 C=0.9198 T=0.0802
GO Exome Sequencing Project African American Sub 4406 C=0.8171 T=0.1829
1000Genomes_30x Global Study-wide 6404 C=0.8829 T=0.1171
1000Genomes_30x African Sub 1786 C=0.8035 T=0.1965
1000Genomes_30x Europe Sub 1266 C=0.9076 T=0.0924
1000Genomes_30x South Asian Sub 1202 C=0.9293 T=0.0707
1000Genomes_30x East Asian Sub 1170 C=0.9137 T=0.0863
1000Genomes_30x American Sub 980 C=0.902 T=0.098
1000Genomes Global Study-wide 5008 C=0.8846 T=0.1154
1000Genomes African Sub 1322 C=0.8011 T=0.1989
1000Genomes East Asian Sub 1008 C=0.9117 T=0.0883
1000Genomes Europe Sub 1006 C=0.9056 T=0.0944
1000Genomes South Asian Sub 978 C=0.933 T=0.067
1000Genomes American Sub 694 C=0.906 T=0.094
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.8906 T=0.1094
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9206 T=0.0794
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9194 T=0.0806
KOREAN population from KRGDB KOREAN Study-wide 2922 C=0.9439 T=0.0561
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 C=0.8868 T=0.1132
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 C=0.874 T=0.126
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 C=0.913 T=0.087
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 C=0.940 T=0.060
HGDP-CEPH-db Supplement 1 Europe Sub 320 C=0.934 T=0.066
HGDP-CEPH-db Supplement 1 Africa Sub 242 C=0.715 T=0.285
HGDP-CEPH-db Supplement 1 America Sub 216 C=0.894 T=0.106
HGDP-CEPH-db Supplement 1 Oceania Sub 72 C=0.90 T=0.10
HapMap Global Study-wide 1892 C=0.8874 T=0.1126
HapMap American Sub 770 C=0.905 T=0.095
HapMap African Sub 692 C=0.831 T=0.169
HapMap Asian Sub 254 C=0.933 T=0.067
HapMap Europe Sub 176 C=0.966 T=0.034
Korean Genome Project KOREAN Study-wide 1832 C=0.9247 T=0.0753
Genome-wide autozygosity in Daghestan Global Study-wide 1136 C=0.9613 T=0.0387
Genome-wide autozygosity in Daghestan Daghestan Sub 628 C=0.978 T=0.022
Genome-wide autozygosity in Daghestan Near_East Sub 144 C=0.979 T=0.021
Genome-wide autozygosity in Daghestan Central Asia Sub 122 C=0.934 T=0.066
Genome-wide autozygosity in Daghestan Europe Sub 108 C=0.954 T=0.046
Genome-wide autozygosity in Daghestan South Asian Sub 98 C=0.88 T=0.12
Genome-wide autozygosity in Daghestan Caucasus Sub 36 C=0.94 T=0.06
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.912 T=0.088
CNV burdens in cranial meningiomas Global Study-wide 792 C=0.922 T=0.078
CNV burdens in cranial meningiomas CRM Sub 792 C=0.922 T=0.078
A Vietnamese Genetic Variation Database Global Study-wide 616 C=0.880 T=0.120
Northern Sweden ACPOP Study-wide 600 C=0.910 T=0.090
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.931 T=0.069
FINRISK Finnish from FINRISK project Study-wide 304 C=0.845 T=0.155
Qatari Global Study-wide 216 C=0.954 T=0.046
SGDP_PRJ Global Study-wide 110 C=0.409 T=0.591
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 74 C=0.97 T=0.03
The Danish reference pan genome Danish Study-wide 40 C=0.93 T=0.07
Siberian Global Study-wide 12 C=0.50 T=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 6 NC_000006.12:g.57190556C>T
GRCh37.p13 chr 6 NC_000006.11:g.57055354C>T
RAB23 RefSeqGene NG_012170.1:g.36725G>A
Gene: RAB23, RAB23, member RAS oncogene family (minus strand)
Molecule type Change Amino acid[Codon] SO Term
RAB23 transcript variant 1 NM_016277.5:c.619G>A G [GGT] > S [AGT] Coding Sequence Variant
ras-related protein Rab-23 NP_057361.3:p.Gly207Ser G (Gly) > S (Ser) Missense Variant
RAB23 transcript variant 4 NM_001278667.2:c.619G>A G [GGT] > S [AGT] Coding Sequence Variant
ras-related protein Rab-23 NP_001265596.1:p.Gly207Ser G (Gly) > S (Ser) Missense Variant
RAB23 transcript variant 5 NM_001278668.2:c.619G>A G [GGT] > S [AGT] Coding Sequence Variant
ras-related protein Rab-23 NP_001265597.1:p.Gly207Ser G (Gly) > S (Ser) Missense Variant
RAB23 transcript variant 3 NM_001278666.2:c.619G>A G [GGT] > S [AGT] Coding Sequence Variant
ras-related protein Rab-23 NP_001265595.1:p.Gly207Ser G (Gly) > S (Ser) Missense Variant
RAB23 transcript variant 2 NM_183227.3:c.619G>A G [GGT] > S [AGT] Coding Sequence Variant
ras-related protein Rab-23 NP_899050.1:p.Gly207Ser G (Gly) > S (Ser) Missense Variant
RAB23 transcript variant 6 NR_103822.2:n.471G>A N/A Non Coding 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: T (allele ID: 303742 )
ClinVar Accession Disease Names Clinical Significance
RCV000279277.7 Carpenter syndrome Benign-Likely-Benign
RCV001530494.4 RAB23-related Carpenter syndrome Benign
RCV001764325.1 not provided Benign
RCV001805026.1 not specified Likely-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 C= T
GRCh38.p14 chr 6 NC_000006.12:g.57190556= NC_000006.12:g.57190556C>T
GRCh37.p13 chr 6 NC_000006.11:g.57055354= NC_000006.11:g.57055354C>T
RAB23 RefSeqGene NG_012170.1:g.36725= NG_012170.1:g.36725G>A
RAB23 transcript variant 1 NM_016277.5:c.619= NM_016277.5:c.619G>A
RAB23 transcript variant 1 NM_016277.4:c.619= NM_016277.4:c.619G>A
RAB23 transcript variant 2 NM_183227.3:c.619= NM_183227.3:c.619G>A
RAB23 transcript variant 2 NM_183227.2:c.619= NM_183227.2:c.619G>A
RAB23 transcript variant 4 NM_001278667.2:c.619= NM_001278667.2:c.619G>A
RAB23 transcript variant 4 NM_001278667.1:c.619= NM_001278667.1:c.619G>A
RAB23 transcript variant 5 NM_001278668.2:c.619= NM_001278668.2:c.619G>A
RAB23 transcript variant 5 NM_001278668.1:c.619= NM_001278668.1:c.619G>A
RAB23 transcript variant 3 NM_001278666.2:c.619= NM_001278666.2:c.619G>A
RAB23 transcript variant 3 NM_001278666.1:c.619= NM_001278666.1:c.619G>A
RAB23 transcript variant 6 NR_103822.2:n.471= NR_103822.2:n.471G>A
RAB23 transcript variant 6 NR_103822.1:n.478= NR_103822.1:n.478G>A
ras-related protein Rab-23 NP_057361.3:p.Gly207= NP_057361.3:p.Gly207Ser
ras-related protein Rab-23 NP_899050.1:p.Gly207= NP_899050.1:p.Gly207Ser
ras-related protein Rab-23 NP_001265596.1:p.Gly207= NP_001265596.1:p.Gly207Ser
ras-related protein Rab-23 NP_001265597.1:p.Gly207= NP_001265597.1:p.Gly207Ser
ras-related protein Rab-23 NP_001265595.1:p.Gly207= NP_001265595.1:p.Gly207Ser
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#.

155 SubSNP, 30 Frequency, 4 ClinVar submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss1506965 Oct 05, 2000 (86)
2 PERLEGEN ss23349465 Sep 20, 2004 (123)
3 ABI ss44708578 Mar 14, 2006 (126)
4 ILLUMINA ss65724598 Oct 16, 2006 (127)
5 ILLUMINA ss66632448 Dec 02, 2006 (127)
6 ILLUMINA ss66881849 Dec 02, 2006 (127)
7 ILLUMINA ss66973980 Dec 02, 2006 (127)
8 PERLEGEN ss68978169 May 18, 2007 (127)
9 ILLUMINA ss70365049 May 18, 2007 (127)
10 ILLUMINA ss70477556 May 23, 2008 (130)
11 ILLUMINA ss71000656 May 18, 2007 (127)
12 AFFY ss74809363 Aug 16, 2007 (128)
13 ILLUMINA ss75499502 Dec 07, 2007 (129)
14 SI_EXO ss76886195 Dec 07, 2007 (129)
15 KRIBB_YJKIM ss83671351 Dec 14, 2007 (130)
16 CORNELL ss86271949 Mar 23, 2008 (129)
17 CANCER-GENOME ss86345621 Mar 23, 2008 (129)
18 BCMHGSC_JDW ss93467693 Mar 24, 2008 (129)
19 1000GENOMES ss110171687 Jan 24, 2009 (130)
20 ILLUMINA ss121302023 Dec 01, 2009 (131)
21 ENSEMBL ss143938886 Dec 01, 2009 (131)
22 ILLUMINA ss152718889 Dec 01, 2009 (131)
23 ILLUMINA ss159122193 Dec 01, 2009 (131)
24 ILLUMINA ss159889720 Dec 01, 2009 (131)
25 ILLUMINA ss169373505 Jul 04, 2010 (132)
26 ILLUMINA ss170027022 Jul 04, 2010 (132)
27 1000GENOMES ss211846782 Jul 14, 2010 (132)
28 1000GENOMES ss222415987 Jul 14, 2010 (132)
29 1000GENOMES ss233489907 Jul 14, 2010 (132)
30 1000GENOMES ss240541448 Jul 15, 2010 (132)
31 GMI ss278811032 May 04, 2012 (137)
32 NHLBI-ESP ss342215987 May 09, 2011 (134)
33 ILLUMINA ss479257060 May 04, 2012 (137)
34 ILLUMINA ss479259984 May 04, 2012 (137)
35 ILLUMINA ss479624756 Sep 08, 2015 (146)
36 ILLUMINA ss484429228 May 04, 2012 (137)
37 1000GENOMES ss490928445 May 04, 2012 (137)
38 EXOME_CHIP ss491387884 May 04, 2012 (137)
39 CLINSEQ_SNP ss491892038 May 04, 2012 (137)
40 ILLUMINA ss536601775 Sep 08, 2015 (146)
41 TISHKOFF ss559231817 Apr 25, 2013 (138)
42 SSMP ss653176575 Apr 25, 2013 (138)
43 ILLUMINA ss778354897 Sep 08, 2015 (146)
44 ILLUMINA ss780850943 Sep 08, 2015 (146)
45 ILLUMINA ss782661073 Sep 08, 2015 (146)
46 ILLUMINA ss783534795 Sep 08, 2015 (146)
47 ILLUMINA ss783630087 Sep 08, 2015 (146)
48 ILLUMINA ss825334780 Apr 01, 2015 (144)
49 ILLUMINA ss831911580 Sep 08, 2015 (146)
50 ILLUMINA ss832634915 Jul 13, 2019 (153)
51 ILLUMINA ss833809624 Sep 08, 2015 (146)
52 JMKIDD_LAB ss974460980 Aug 21, 2014 (142)
53 EVA-GONL ss982978497 Aug 21, 2014 (142)
54 JMKIDD_LAB ss1067480562 Aug 21, 2014 (142)
55 JMKIDD_LAB ss1073650728 Aug 21, 2014 (142)
56 1000GENOMES ss1320303794 Aug 21, 2014 (142)
57 HAMMER_LAB ss1397457687 Sep 08, 2015 (146)
58 EVA_GENOME_DK ss1581691441 Apr 01, 2015 (144)
59 EVA_FINRISK ss1584047534 Apr 01, 2015 (144)
60 EVA_DECODE ss1592517843 Apr 01, 2015 (144)
61 EVA_UK10K_ALSPAC ss1615673184 Apr 01, 2015 (144)
62 EVA_UK10K_TWINSUK ss1658667217 Apr 01, 2015 (144)
63 EVA_EXAC ss1688379889 Apr 01, 2015 (144)
64 EVA_MGP ss1711133615 Apr 01, 2015 (144)
65 EVA_SVP ss1712866861 Apr 01, 2015 (144)
66 ILLUMINA ss1752643229 Sep 08, 2015 (146)
67 ILLUMINA ss1752643230 Sep 08, 2015 (146)
68 HAMMER_LAB ss1804448988 Sep 08, 2015 (146)
69 ILLUMINA ss1917807266 Feb 12, 2016 (147)
70 WEILL_CORNELL_DGM ss1926233869 Feb 12, 2016 (147)
71 ILLUMINA ss1946181503 Feb 12, 2016 (147)
72 ILLUMINA ss1958914290 Feb 12, 2016 (147)
73 GENOMED ss1970407070 Jul 19, 2016 (147)
74 JJLAB ss2023758995 Sep 14, 2016 (149)
75 ILLUMINA ss2094827915 Dec 20, 2016 (150)
76 ILLUMINA ss2095183943 Dec 20, 2016 (150)
77 USC_VALOUEV ss2151938290 Dec 20, 2016 (150)
78 HUMAN_LONGEVITY ss2284440384 Dec 20, 2016 (150)
79 ILLUMINA ss2634458594 Nov 08, 2017 (151)
80 GRF ss2707539355 Nov 08, 2017 (151)
81 GNOMAD ss2735879515 Nov 08, 2017 (151)
82 GNOMAD ss2747650316 Nov 08, 2017 (151)
83 GNOMAD ss2839481221 Nov 08, 2017 (151)
84 AFFY ss2985371454 Nov 08, 2017 (151)
85 SWEGEN ss2999133524 Nov 08, 2017 (151)
86 ILLUMINA ss3022626055 Nov 08, 2017 (151)
87 ILLUMINA ss3022626056 Nov 08, 2017 (151)
88 BIOINF_KMB_FNS_UNIBA ss3025672098 Nov 08, 2017 (151)
89 CSHL ss3346984365 Nov 08, 2017 (151)
90 ILLUMINA ss3629559124 Oct 12, 2018 (152)
91 ILLUMINA ss3629559125 Oct 12, 2018 (152)
92 ILLUMINA ss3632374883 Oct 12, 2018 (152)
93 ILLUMINA ss3633423730 Oct 12, 2018 (152)
94 ILLUMINA ss3634146719 Oct 12, 2018 (152)
95 ILLUMINA ss3635070598 Oct 12, 2018 (152)
96 ILLUMINA ss3635827510 Oct 12, 2018 (152)
97 ILLUMINA ss3636793415 Oct 12, 2018 (152)
98 ILLUMINA ss3637580334 Oct 12, 2018 (152)
99 ILLUMINA ss3638633440 Oct 12, 2018 (152)
100 ILLUMINA ss3639317160 Oct 12, 2018 (152)
101 ILLUMINA ss3639684529 Oct 12, 2018 (152)
102 ILLUMINA ss3640777898 Oct 12, 2018 (152)
103 ILLUMINA ss3643574279 Oct 12, 2018 (152)
104 OMUKHERJEE_ADBS ss3646340201 Oct 12, 2018 (152)
105 ILLUMINA ss3653143160 Oct 12, 2018 (152)
106 ILLUMINA ss3653143161 Oct 12, 2018 (152)
107 ILLUMINA ss3653143162 Oct 12, 2018 (152)
108 ILLUMINA ss3654137067 Oct 12, 2018 (152)
109 EGCUT_WGS ss3667033457 Jul 13, 2019 (153)
110 EVA_DECODE ss3717295986 Jul 13, 2019 (153)
111 ILLUMINA ss3726351620 Jul 13, 2019 (153)
112 ACPOP ss3733545153 Jul 13, 2019 (153)
113 ILLUMINA ss3744556119 Jul 13, 2019 (153)
114 ILLUMINA ss3745370545 Jul 13, 2019 (153)
115 EVA ss3765074189 Jul 13, 2019 (153)
116 PAGE_CC ss3771297612 Jul 13, 2019 (153)
117 ILLUMINA ss3772864060 Jul 13, 2019 (153)
118 ILLUMINA ss3772864061 Jul 13, 2019 (153)
119 KHV_HUMAN_GENOMES ss3808221050 Jul 13, 2019 (153)
120 EVA ss3824201008 Apr 26, 2020 (154)
121 EVA ss3825701800 Apr 26, 2020 (154)
122 EVA ss3829946088 Apr 26, 2020 (154)
123 EVA ss3838451214 Apr 26, 2020 (154)
124 EVA ss3843896682 Apr 26, 2020 (154)
125 HGDP ss3847835810 Apr 26, 2020 (154)
126 SGDP_PRJ ss3864670346 Apr 26, 2020 (154)
127 KRGDB ss3911492476 Apr 26, 2020 (154)
128 KOGIC ss3959113990 Apr 26, 2020 (154)
129 FSA-LAB ss3984341033 Apr 26, 2021 (155)
130 EVA ss3984570095 Apr 26, 2021 (155)
131 EVA ss3985226695 Apr 26, 2021 (155)
132 EVA ss3986349537 Apr 26, 2021 (155)
133 EVA ss4017277949 Apr 26, 2021 (155)
134 TOPMED ss4704480187 Apr 26, 2021 (155)
135 TOMMO_GENOMICS ss5177691707 Apr 26, 2021 (155)
136 EVA ss5237025764 Apr 26, 2021 (155)
137 EVA ss5237647096 Oct 13, 2022 (156)
138 1000G_HIGH_COVERAGE ss5268595848 Oct 13, 2022 (156)
139 TRAN_CS_UWATERLOO ss5314416871 Oct 13, 2022 (156)
140 EVA ss5315160030 Oct 13, 2022 (156)
141 EVA ss5365898974 Oct 13, 2022 (156)
142 HUGCELL_USP ss5466253284 Oct 13, 2022 (156)
143 EVA ss5508512623 Oct 13, 2022 (156)
144 1000G_HIGH_COVERAGE ss5554576815 Oct 13, 2022 (156)
145 SANFORD_IMAGENETICS ss5640486929 Oct 13, 2022 (156)
146 TOMMO_GENOMICS ss5715793064 Oct 13, 2022 (156)
147 EVA ss5799428653 Oct 13, 2022 (156)
148 EVA ss5799690618 Oct 13, 2022 (156)
149 YY_MCH ss5807505317 Oct 13, 2022 (156)
150 EVA ss5842302953 Oct 13, 2022 (156)
151 EVA ss5848661417 Oct 13, 2022 (156)
152 EVA ss5855376205 Oct 13, 2022 (156)
153 EVA ss5883992643 Oct 13, 2022 (156)
154 EVA ss5968992361 Oct 13, 2022 (156)
155 EVA ss5981236553 Oct 13, 2022 (156)
156 1000Genomes NC_000006.11 - 57055354 Oct 12, 2018 (152)
157 1000Genomes_30x NC_000006.12 - 57190556 Oct 13, 2022 (156)
158 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 57055354 Oct 12, 2018 (152)
159 Genome-wide autozygosity in Daghestan NC_000006.10 - 57163313 Apr 26, 2020 (154)
160 Genetic variation in the Estonian population NC_000006.11 - 57055354 Oct 12, 2018 (152)
161 ExAC NC_000006.11 - 57055354 Oct 12, 2018 (152)
162 FINRISK NC_000006.11 - 57055354 Apr 26, 2020 (154)
163 The Danish reference pan genome NC_000006.11 - 57055354 Apr 26, 2020 (154)
164 gnomAD - Genomes NC_000006.12 - 57190556 Apr 26, 2021 (155)
165 gnomAD - Exomes NC_000006.11 - 57055354 Jul 13, 2019 (153)
166 GO Exome Sequencing Project NC_000006.11 - 57055354 Oct 12, 2018 (152)
167 Genome of the Netherlands Release 5 NC_000006.11 - 57055354 Apr 26, 2020 (154)
168 HGDP-CEPH-db Supplement 1 NC_000006.10 - 57163313 Apr 26, 2020 (154)
169 HapMap NC_000006.12 - 57190556 Apr 26, 2020 (154)
170 KOREAN population from KRGDB NC_000006.11 - 57055354 Apr 26, 2020 (154)
171 Korean Genome Project NC_000006.12 - 57190556 Apr 26, 2020 (154)
172 Medical Genome Project healthy controls from Spanish population NC_000006.11 - 57055354 Apr 26, 2020 (154)
173 Northern Sweden NC_000006.11 - 57055354 Jul 13, 2019 (153)
174 The PAGE Study NC_000006.12 - 57190556 Jul 13, 2019 (153)
175 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000006.11 - 57055354 Apr 26, 2021 (155)
176 CNV burdens in cranial meningiomas NC_000006.11 - 57055354 Apr 26, 2021 (155)
177 Qatari NC_000006.11 - 57055354 Apr 26, 2020 (154)
178 SGDP_PRJ NC_000006.11 - 57055354 Apr 26, 2020 (154)
179 Siberian NC_000006.11 - 57055354 Apr 26, 2020 (154)
180 8.3KJPN NC_000006.11 - 57055354 Apr 26, 2021 (155)
181 14KJPN NC_000006.12 - 57190556 Oct 13, 2022 (156)
182 TopMed NC_000006.12 - 57190556 Apr 26, 2021 (155)
183 UK 10K study - Twins NC_000006.11 - 57055354 Oct 12, 2018 (152)
184 A Vietnamese Genetic Variation Database NC_000006.11 - 57055354 Jul 13, 2019 (153)
185 ALFA NC_000006.12 - 57190556 Apr 26, 2021 (155)
186 ClinVar RCV000279277.7 Oct 13, 2022 (156)
187 ClinVar RCV001530494.4 Oct 13, 2022 (156)
188 ClinVar RCV001764325.1 Oct 13, 2022 (156)
189 ClinVar RCV001805026.1 Oct 13, 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)
rs52810972 Sep 21, 2007 (128)
rs57342085 May 23, 2008 (130)
rs117722393 Aug 16, 2010 (132)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3639317160, ss3639684529 NC_000006.9:57163312:C:T NC_000006.12:57190555:C:T (self)
432288, 513702, ss93467693, ss110171687, ss211846782, ss278811032, ss479257060, ss491892038, ss825334780, ss1397457687, ss1592517843, ss1712866861, ss3643574279, ss3847835810 NC_000006.10:57163312:C:T NC_000006.12:57190555:C:T (self)
32098786, 17902711, 12771705, 8416467, 43995, 7856380, 5026645, 659015, 7967033, 18669870, 249375, 6830018, 452622, 119504, 8275799, 16687326, 4454644, 35661014, 17902711, 3973456, ss222415987, ss233489907, ss240541448, ss342215987, ss479259984, ss479624756, ss484429228, ss490928445, ss491387884, ss536601775, ss559231817, ss653176575, ss778354897, ss780850943, ss782661073, ss783534795, ss783630087, ss831911580, ss832634915, ss833809624, ss974460980, ss982978497, ss1067480562, ss1073650728, ss1320303794, ss1581691441, ss1584047534, ss1615673184, ss1658667217, ss1688379889, ss1711133615, ss1752643229, ss1752643230, ss1804448988, ss1917807266, ss1926233869, ss1946181503, ss1958914290, ss1970407070, ss2023758995, ss2094827915, ss2095183943, ss2151938290, ss2634458594, ss2707539355, ss2735879515, ss2747650316, ss2839481221, ss2985371454, ss2999133524, ss3022626055, ss3022626056, ss3346984365, ss3629559124, ss3629559125, ss3632374883, ss3633423730, ss3634146719, ss3635070598, ss3635827510, ss3636793415, ss3637580334, ss3638633440, ss3640777898, ss3646340201, ss3653143160, ss3653143161, ss3653143162, ss3654137067, ss3667033457, ss3733545153, ss3744556119, ss3745370545, ss3765074189, ss3772864060, ss3772864061, ss3824201008, ss3825701800, ss3829946088, ss3838451214, ss3864670346, ss3911492476, ss3984341033, ss3984570095, ss3985226695, ss3986349537, ss4017277949, ss5177691707, ss5315160030, ss5365898974, ss5508512623, ss5640486929, ss5799428653, ss5799690618, ss5842302953, ss5848661417, ss5968992361, ss5981236553 NC_000006.11:57055353:C:T NC_000006.12:57190555:C:T (self)
RCV000279277.7, RCV001530494.4, RCV001764325.1, RCV001805026.1, 42102750, 226456115, 3142456, 15491991, 519081, 49630168, 541857745, 10655540730, ss2284440384, ss3025672098, ss3717295986, ss3726351620, ss3771297612, ss3808221050, ss3843896682, ss3959113990, ss4704480187, ss5237025764, ss5237647096, ss5268595848, ss5314416871, ss5466253284, ss5554576815, ss5715793064, ss5807505317, ss5855376205, ss5883992643 NC_000006.12:57190555:C:T NC_000006.12:57190555:C:T (self)
ss76886195 NT_007592.14:47913584:C:T NC_000006.12:57190555:C:T (self)
ss1506965, ss23349465, ss44708578, ss65724598, ss66632448, ss66881849, ss66973980, ss68978169, ss70365049, ss70477556, ss71000656, ss74809363, ss75499502, ss83671351, ss86271949, ss86345621, ss121302023, ss143938886, ss152718889, ss159122193, ss159889720, ss169373505, ss170027022 NT_007592.15:56995353:C:T NC_000006.12:57190555:C:T (self)
Help

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

4 citations for rs1040461
PMID Title Author Year Journal
17503333 RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. Jenkins D et al. 2007 American journal of human genetics
21540310 A genome-wide association study reveals evidence of association with sarcoidosis at 6p12.1. Hofmann S et al. 2011 The European respiratory journal
22952805 Genome-wide association study of African and European Americans implicates multiple shared and ethnic specific loci in sarcoidosis susceptibility. Adrianto I et al. 2012 PloS one
29416296 Association of genetic variants in RAB23 and ANXA11 with uveitis in sarcoidosis. Davoudi S et al. 2018 Molecular vision
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