Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

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.

rs149177436

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:173951323-173951331 (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
delC / dupC / dupCC / dupCCC
Variation Type
Indel Insertion and Deletion
Frequency
delC=0.017998 (4764/264690, TOPMED)
dupC=0.02843 (434/15264, ALFA)
dupC=0.0969 (434/4480, Estonian) (+ 6 more)
delC=0.0220 (92/4179, 1000G)
dupC=0.1139 (439/3854, ALSPAC)
dupC=0.1065 (395/3708, TWINSUK)
dupC=0.126 (126/998, GoNL)
dupC=0.128 (77/600, NorthernSweden)
dupC=0.25 (10/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RC3H1 : Intron Variant
Publications
0 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 15264 CCCCCCCCC=0.97098 CCCCCCCC=0.00059, CCCCCCCCCC=0.02843, CCCCCCCCCCC=0.00000, CCCCCCCCCCCC=0.00000 0.946871 0.003804 0.049324 32
European Sub 12456 CCCCCCCCC=0.96524 CCCCCCCC=0.00000, CCCCCCCCCC=0.03476, CCCCCCCCCCC=0.00000, CCCCCCCCCCCC=0.00000 0.935132 0.004656 0.060212 34
African Sub 1674 CCCCCCCCC=0.9946 CCCCCCCC=0.0054, CCCCCCCCCC=0.0000, CCCCCCCCCCC=0.0000, CCCCCCCCCCCC=0.0000 1.0 0.0 0.0 N/A
African Others Sub 68 CCCCCCCCC=1.00 CCCCCCCC=0.00, CCCCCCCCCC=0.00, CCCCCCCCCCC=0.00, CCCCCCCCCCCC=0.00 1.0 0.0 0.0 N/A
African American Sub 1606 CCCCCCCCC=0.9944 CCCCCCCC=0.0056, CCCCCCCCCC=0.0000, CCCCCCCCCCC=0.0000, CCCCCCCCCCCC=0.0000 1.0 0.0 0.0 N/A
Asian Sub 64 CCCCCCCCC=1.00 CCCCCCCC=0.00, CCCCCCCCCC=0.00, CCCCCCCCCCC=0.00, CCCCCCCCCCCC=0.00 1.0 0.0 0.0 N/A
East Asian Sub 42 CCCCCCCCC=1.00 CCCCCCCC=0.00, CCCCCCCCCC=0.00, CCCCCCCCCCC=0.00, CCCCCCCCCCCC=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 22 CCCCCCCCC=1.00 CCCCCCCC=0.00, CCCCCCCCCC=0.00, CCCCCCCCCCC=0.00, CCCCCCCCCCCC=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 104 CCCCCCCCC=1.000 CCCCCCCC=0.000, CCCCCCCCCC=0.000, CCCCCCCCCCC=0.000, CCCCCCCCCCCC=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 522 CCCCCCCCC=1.000 CCCCCCCC=0.000, CCCCCCCCCC=0.000, CCCCCCCCCCC=0.000, CCCCCCCCCCCC=0.000 1.0 0.0 0.0 N/A
South Asian Sub 78 CCCCCCCCC=1.00 CCCCCCCC=0.00, CCCCCCCCCC=0.00, CCCCCCCCCCC=0.00, CCCCCCCCCCCC=0.00 1.0 0.0 0.0 N/A
Other Sub 366 CCCCCCCCC=0.997 CCCCCCCC=0.000, CCCCCCCCCC=0.003, CCCCCCCCCCC=0.000, CCCCCCCCCCCC=0.000 0.994536 0.0 0.005464 0


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 (C)9=0.982002 delC=0.017998
Allele Frequency Aggregator Total Global 15264 (C)9=0.97098 delC=0.00059, dupC=0.02843, dupCC=0.00000, dupCCC=0.00000
Allele Frequency Aggregator European Sub 12456 (C)9=0.96524 delC=0.00000, dupC=0.03476, dupCC=0.00000, dupCCC=0.00000
Allele Frequency Aggregator African Sub 1674 (C)9=0.9946 delC=0.0054, dupC=0.0000, dupCC=0.0000, dupCCC=0.0000
Allele Frequency Aggregator Latin American 2 Sub 522 (C)9=1.000 delC=0.000, dupC=0.000, dupCC=0.000, dupCCC=0.000
Allele Frequency Aggregator Other Sub 366 (C)9=0.997 delC=0.000, dupC=0.003, dupCC=0.000, dupCCC=0.000
Allele Frequency Aggregator Latin American 1 Sub 104 (C)9=1.000 delC=0.000, dupC=0.000, dupCC=0.000, dupCCC=0.000
Allele Frequency Aggregator South Asian Sub 78 (C)9=1.00 delC=0.00, dupC=0.00, dupCC=0.00, dupCCC=0.00
Allele Frequency Aggregator Asian Sub 64 (C)9=1.00 delC=0.00, dupC=0.00, dupCC=0.00, dupCCC=0.00
Genetic variation in the Estonian population Estonian Study-wide 4480 -

No frequency provided

dupC=0.0969
1000Genomes Global Study-wide 4179 (C)9=0.9780 delC=0.0220
1000Genomes African Sub 1063 (C)9=0.9191 delC=0.0809
1000Genomes Europe Sub 893 (C)9=1.000 delC=0.000
1000Genomes East Asian Sub 802 (C)9=0.998 delC=0.002
1000Genomes South Asian Sub 802 (C)9=0.998 delC=0.002
1000Genomes American Sub 619 (C)9=0.997 delC=0.003
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 -

No frequency provided

dupC=0.1139
UK 10K study - Twins TWIN COHORT Study-wide 3708 -

No frequency provided

dupC=0.1065
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 -

No frequency provided

dupC=0.126
Northern Sweden ACPOP Study-wide 600 -

No frequency provided

dupC=0.128
The Danish reference pan genome Danish Study-wide 40 -

No frequency provided

dupC=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 1 NC_000001.11:g.173951331del
GRCh38.p14 chr 1 NC_000001.11:g.173951331dup
GRCh38.p14 chr 1 NC_000001.11:g.173951330_173951331dup
GRCh38.p14 chr 1 NC_000001.11:g.173951329_173951331dup
GRCh37.p13 chr 1 NC_000001.10:g.173920469del
GRCh37.p13 chr 1 NC_000001.10:g.173920469dup
GRCh37.p13 chr 1 NC_000001.10:g.173920468_173920469dup
GRCh37.p13 chr 1 NC_000001.10:g.173920467_173920469dup
Gene: RC3H1, ring finger and CCCH-type domains 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
RC3H1 transcript variant 1 NM_001300850.1:c.2523+663…

NM_001300850.1:c.2523+663del

N/A Intron Variant
RC3H1 transcript variant 3 NM_001300851.1:c.2523+663…

NM_001300851.1:c.2523+663del

N/A Intron Variant
RC3H1 transcript variant 4 NM_001300852.1:c.2523+663…

NM_001300852.1:c.2523+663del

N/A Intron Variant
RC3H1 transcript variant 2 NM_172071.4:c.2523+663del N/A Intron Variant
RC3H1 transcript variant X8 XM_005244921.4:c.2460+663…

XM_005244921.4:c.2460+663del

N/A Intron Variant
RC3H1 transcript variant X1 XM_047447089.1:c.2523+663…

XM_047447089.1:c.2523+663del

N/A Intron Variant
RC3H1 transcript variant X2 XM_047447090.1:c.2523+663…

XM_047447090.1:c.2523+663del

N/A Intron Variant
RC3H1 transcript variant X3 XM_047447091.1:c.2523+663…

XM_047447091.1:c.2523+663del

N/A Intron Variant
RC3H1 transcript variant X4 XM_047447092.1:c.2523+663…

XM_047447092.1:c.2523+663del

N/A Intron Variant
RC3H1 transcript variant X5 XM_047447093.1:c.2523+663…

XM_047447093.1:c.2523+663del

N/A Intron Variant
RC3H1 transcript variant X6 XM_047447094.1:c.2523+663…

XM_047447094.1:c.2523+663del

N/A Intron Variant
RC3H1 transcript variant X7 XM_047447095.1:c.2523+663…

XM_047447095.1:c.2523+663del

N/A Intron Variant
RC3H1 transcript variant X9 XM_047447096.1:c.2460+663…

XM_047447096.1:c.2460+663del

N/A Intron Variant
RC3H1 transcript variant X10 XM_047447097.1:c.2460+663…

XM_047447097.1:c.2460+663del

N/A Intron Variant
RC3H1 transcript variant X11 XM_047447101.1:c.2460+663…

XM_047447101.1:c.2460+663del

N/A Intron Variant
RC3H1 transcript variant X12 XM_047447102.1:c.2460+663…

XM_047447102.1:c.2460+663del

N/A Intron Variant
RC3H1 transcript variant X13 XM_047447103.1:c.2523+663…

XM_047447103.1:c.2523+663del

N/A Intron Variant
RC3H1 transcript variant X14 XM_047447104.1:c.2523+663…

XM_047447104.1:c.2523+663del

N/A Intron Variant
RC3H1 transcript variant X15 XM_047447105.1:c.2523+663…

XM_047447105.1:c.2523+663del

N/A Intron Variant
RC3H1 transcript variant X16 XM_047447106.1:c.2460+663…

XM_047447106.1:c.2460+663del

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 (C)9= delC dupC dupCC dupCCC
GRCh38.p14 chr 1 NC_000001.11:g.173951323_173951331= NC_000001.11:g.173951331del NC_000001.11:g.173951331dup NC_000001.11:g.173951330_173951331dup NC_000001.11:g.173951329_173951331dup
GRCh37.p13 chr 1 NC_000001.10:g.173920461_173920469= NC_000001.10:g.173920469del NC_000001.10:g.173920469dup NC_000001.10:g.173920468_173920469dup NC_000001.10:g.173920467_173920469dup
RC3H1 transcript variant 1 NM_001300850.1:c.2523+663= NM_001300850.1:c.2523+663del NM_001300850.1:c.2523+663dup NM_001300850.1:c.2523+662_2523+663dup NM_001300850.1:c.2523+661_2523+663dup
RC3H1 transcript variant 3 NM_001300851.1:c.2523+663= NM_001300851.1:c.2523+663del NM_001300851.1:c.2523+663dup NM_001300851.1:c.2523+662_2523+663dup NM_001300851.1:c.2523+661_2523+663dup
RC3H1 transcript variant 4 NM_001300852.1:c.2523+663= NM_001300852.1:c.2523+663del NM_001300852.1:c.2523+663dup NM_001300852.1:c.2523+662_2523+663dup NM_001300852.1:c.2523+661_2523+663dup
RC3H1 transcript NM_172071.2:c.2523+663= NM_172071.2:c.2523+663del NM_172071.2:c.2523+663dup NM_172071.2:c.2523+662_2523+663dup NM_172071.2:c.2523+661_2523+663dup
RC3H1 transcript variant 2 NM_172071.4:c.2523+663= NM_172071.4:c.2523+663del NM_172071.4:c.2523+663dup NM_172071.4:c.2523+662_2523+663dup NM_172071.4:c.2523+661_2523+663dup
RC3H1 transcript variant X1 XM_005244918.1:c.2523+663= XM_005244918.1:c.2523+663del XM_005244918.1:c.2523+663dup XM_005244918.1:c.2523+662_2523+663dup XM_005244918.1:c.2523+661_2523+663dup
RC3H1 transcript variant X2 XM_005244919.1:c.2523+663= XM_005244919.1:c.2523+663del XM_005244919.1:c.2523+663dup XM_005244919.1:c.2523+662_2523+663dup XM_005244919.1:c.2523+661_2523+663dup
RC3H1 transcript variant X3 XM_005244920.1:c.2523+663= XM_005244920.1:c.2523+663del XM_005244920.1:c.2523+663dup XM_005244920.1:c.2523+662_2523+663dup XM_005244920.1:c.2523+661_2523+663dup
RC3H1 transcript variant X4 XM_005244921.1:c.2460+663= XM_005244921.1:c.2460+663del XM_005244921.1:c.2460+663dup XM_005244921.1:c.2460+662_2460+663dup XM_005244921.1:c.2460+661_2460+663dup
RC3H1 transcript variant X8 XM_005244921.4:c.2460+663= XM_005244921.4:c.2460+663del XM_005244921.4:c.2460+663dup XM_005244921.4:c.2460+662_2460+663dup XM_005244921.4:c.2460+661_2460+663dup
RC3H1 transcript variant X1 XM_047447089.1:c.2523+663= XM_047447089.1:c.2523+663del XM_047447089.1:c.2523+663dup XM_047447089.1:c.2523+662_2523+663dup XM_047447089.1:c.2523+661_2523+663dup
RC3H1 transcript variant X2 XM_047447090.1:c.2523+663= XM_047447090.1:c.2523+663del XM_047447090.1:c.2523+663dup XM_047447090.1:c.2523+662_2523+663dup XM_047447090.1:c.2523+661_2523+663dup
RC3H1 transcript variant X3 XM_047447091.1:c.2523+663= XM_047447091.1:c.2523+663del XM_047447091.1:c.2523+663dup XM_047447091.1:c.2523+662_2523+663dup XM_047447091.1:c.2523+661_2523+663dup
RC3H1 transcript variant X4 XM_047447092.1:c.2523+663= XM_047447092.1:c.2523+663del XM_047447092.1:c.2523+663dup XM_047447092.1:c.2523+662_2523+663dup XM_047447092.1:c.2523+661_2523+663dup
RC3H1 transcript variant X5 XM_047447093.1:c.2523+663= XM_047447093.1:c.2523+663del XM_047447093.1:c.2523+663dup XM_047447093.1:c.2523+662_2523+663dup XM_047447093.1:c.2523+661_2523+663dup
RC3H1 transcript variant X6 XM_047447094.1:c.2523+663= XM_047447094.1:c.2523+663del XM_047447094.1:c.2523+663dup XM_047447094.1:c.2523+662_2523+663dup XM_047447094.1:c.2523+661_2523+663dup
RC3H1 transcript variant X7 XM_047447095.1:c.2523+663= XM_047447095.1:c.2523+663del XM_047447095.1:c.2523+663dup XM_047447095.1:c.2523+662_2523+663dup XM_047447095.1:c.2523+661_2523+663dup
RC3H1 transcript variant X9 XM_047447096.1:c.2460+663= XM_047447096.1:c.2460+663del XM_047447096.1:c.2460+663dup XM_047447096.1:c.2460+662_2460+663dup XM_047447096.1:c.2460+661_2460+663dup
RC3H1 transcript variant X10 XM_047447097.1:c.2460+663= XM_047447097.1:c.2460+663del XM_047447097.1:c.2460+663dup XM_047447097.1:c.2460+662_2460+663dup XM_047447097.1:c.2460+661_2460+663dup
RC3H1 transcript variant X11 XM_047447101.1:c.2460+663= XM_047447101.1:c.2460+663del XM_047447101.1:c.2460+663dup XM_047447101.1:c.2460+662_2460+663dup XM_047447101.1:c.2460+661_2460+663dup
RC3H1 transcript variant X12 XM_047447102.1:c.2460+663= XM_047447102.1:c.2460+663del XM_047447102.1:c.2460+663dup XM_047447102.1:c.2460+662_2460+663dup XM_047447102.1:c.2460+661_2460+663dup
RC3H1 transcript variant X13 XM_047447103.1:c.2523+663= XM_047447103.1:c.2523+663del XM_047447103.1:c.2523+663dup XM_047447103.1:c.2523+662_2523+663dup XM_047447103.1:c.2523+661_2523+663dup
RC3H1 transcript variant X14 XM_047447104.1:c.2523+663= XM_047447104.1:c.2523+663del XM_047447104.1:c.2523+663dup XM_047447104.1:c.2523+662_2523+663dup XM_047447104.1:c.2523+661_2523+663dup
RC3H1 transcript variant X15 XM_047447105.1:c.2523+663= XM_047447105.1:c.2523+663del XM_047447105.1:c.2523+663dup XM_047447105.1:c.2523+662_2523+663dup XM_047447105.1:c.2523+661_2523+663dup
RC3H1 transcript variant X16 XM_047447106.1:c.2460+663= XM_047447106.1:c.2460+663del XM_047447106.1:c.2460+663dup XM_047447106.1:c.2460+662_2460+663dup XM_047447106.1:c.2460+661_2460+663dup
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#.

43 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 GMI ss288056829 May 04, 2012 (138)
2 1000GENOMES ss326101044 May 09, 2011 (134)
3 1000GENOMES ss326136982 Jan 10, 2018 (151)
4 LUNTER ss551014993 Apr 25, 2013 (138)
5 LUNTER ss552818316 Apr 25, 2013 (138)
6 TISHKOFF ss554524220 Apr 25, 2013 (138)
7 SSMP ss663133099 Apr 01, 2015 (144)
8 BILGI_BIOE ss666116401 Apr 25, 2013 (138)
9 EVA-GONL ss975824871 Aug 21, 2014 (142)
10 1000GENOMES ss1367898394 Aug 21, 2014 (142)
11 1000GENOMES ss1367898397 Aug 21, 2014 (142)
12 EVA_GENOME_DK ss1574051121 Apr 01, 2015 (144)
13 EVA_UK10K_TWINSUK ss1701414054 Apr 01, 2015 (144)
14 EVA_UK10K_ALSPAC ss1701414055 Apr 01, 2015 (144)
15 JJLAB ss2030357599 Sep 14, 2016 (149)
16 SYSTEMSBIOZJU ss2624532754 Jan 10, 2018 (151)
17 SWEGEN ss2987970343 Jan 10, 2018 (151)
18 EGCUT_WGS ss3655915654 Jul 12, 2019 (153)
19 EVA_DECODE ss3688045101 Jul 12, 2019 (153)
20 ACPOP ss3727604627 Jul 12, 2019 (153)
21 PACBIO ss3783606299 Jul 12, 2019 (153)
22 KHV_HUMAN_GENOMES ss3799975754 Jul 12, 2019 (153)
23 KHV_HUMAN_GENOMES ss3799975755 Jul 12, 2019 (153)
24 EVA ss3826495709 Apr 25, 2020 (154)
25 KOGIC ss3945918018 Apr 25, 2020 (154)
26 KOGIC ss3945918019 Apr 25, 2020 (154)
27 GNOMAD ss4006048245 Apr 25, 2021 (155)
28 GNOMAD ss4006048246 Apr 25, 2021 (155)
29 GNOMAD ss4006048247 Apr 25, 2021 (155)
30 TOPMED ss4473032253 Apr 25, 2021 (155)
31 TOMMO_GENOMICS ss5147088910 Apr 25, 2021 (155)
32 TOMMO_GENOMICS ss5147088911 Apr 25, 2021 (155)
33 1000G_HIGH_COVERAGE ss5244759572 Oct 12, 2022 (156)
34 1000G_HIGH_COVERAGE ss5244759573 Oct 12, 2022 (156)
35 1000G_HIGH_COVERAGE ss5244759574 Oct 12, 2022 (156)
36 HUGCELL_USP ss5445300270 Oct 12, 2022 (156)
37 HUGCELL_USP ss5445300271 Oct 12, 2022 (156)
38 TOMMO_GENOMICS ss5674462276 Oct 12, 2022 (156)
39 TOMMO_GENOMICS ss5674462277 Oct 12, 2022 (156)
40 TOMMO_GENOMICS ss5674462278 Oct 12, 2022 (156)
41 EVA ss5832851942 Oct 12, 2022 (156)
42 EVA ss5849164155 Oct 12, 2022 (156)
43 EVA ss5938666101 Oct 12, 2022 (156)
44 1000Genomes NC_000001.10 - 173920461 Oct 11, 2018 (152)
45 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 173920461 Oct 11, 2018 (152)
46 Genetic variation in the Estonian population NC_000001.10 - 173920461 Oct 11, 2018 (152)
47 The Danish reference pan genome NC_000001.10 - 173920461 Apr 25, 2020 (154)
48 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 30920944 (NC_000001.11:173951322::C 18700/136432)
Row 30920945 (NC_000001.11:173951322::CC 22/136614)
Row 30920946 (NC_000001.11:173951322:C: 2350/136606)

- Apr 25, 2021 (155)
49 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 30920944 (NC_000001.11:173951322::C 18700/136432)
Row 30920945 (NC_000001.11:173951322::CC 22/136614)
Row 30920946 (NC_000001.11:173951322:C: 2350/136606)

- Apr 25, 2021 (155)
50 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 30920944 (NC_000001.11:173951322::C 18700/136432)
Row 30920945 (NC_000001.11:173951322::CC 22/136614)
Row 30920946 (NC_000001.11:173951322:C: 2350/136606)

- Apr 25, 2021 (155)
51 Genome of the Netherlands Release 5 NC_000001.10 - 173920461 Apr 25, 2020 (154)
52 Korean Genome Project

Submission ignored due to conflicting rows:
Row 2296019 (NC_000001.11:173951323::C 473/1832)
Row 2296020 (NC_000001.11:173951322:C: 1/1832)

- Apr 25, 2020 (154)
53 Korean Genome Project

Submission ignored due to conflicting rows:
Row 2296019 (NC_000001.11:173951323::C 473/1832)
Row 2296020 (NC_000001.11:173951322:C: 1/1832)

- Apr 25, 2020 (154)
54 Northern Sweden NC_000001.10 - 173920461 Jul 12, 2019 (153)
55 8.3KJPN

Submission ignored due to conflicting rows:
Row 5058217 (NC_000001.10:173920460::C 3673/16758)
Row 5058218 (NC_000001.10:173920460::CC 7/16758)

- Apr 25, 2021 (155)
56 8.3KJPN

Submission ignored due to conflicting rows:
Row 5058217 (NC_000001.10:173920460::C 3673/16758)
Row 5058218 (NC_000001.10:173920460::CC 7/16758)

- Apr 25, 2021 (155)
57 14KJPN

Submission ignored due to conflicting rows:
Row 8299380 (NC_000001.11:173951322::C 6218/28256)
Row 8299381 (NC_000001.11:173951322::CC 11/28256)
Row 8299382 (NC_000001.11:173951322::CCC 1/28256)

- Oct 12, 2022 (156)
58 14KJPN

Submission ignored due to conflicting rows:
Row 8299380 (NC_000001.11:173951322::C 6218/28256)
Row 8299381 (NC_000001.11:173951322::CC 11/28256)
Row 8299382 (NC_000001.11:173951322::CCC 1/28256)

- Oct 12, 2022 (156)
59 14KJPN

Submission ignored due to conflicting rows:
Row 8299380 (NC_000001.11:173951322::C 6218/28256)
Row 8299381 (NC_000001.11:173951322::CC 11/28256)
Row 8299382 (NC_000001.11:173951322::CCC 1/28256)

- Oct 12, 2022 (156)
60 TopMed NC_000001.11 - 173951323 Apr 25, 2021 (155)
61 UK 10K study - Twins NC_000001.10 - 173920461 Oct 11, 2018 (152)
62 ALFA NC_000001.11 - 173951323 Apr 25, 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)
rs200382773 May 15, 2013 (138)
rs369374986 May 15, 2013 (138)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss326136982, ss551014993 NC_000001.9:172187083:C: NC_000001.11:173951322:CCCCCCCCC:C…

NC_000001.11:173951322:CCCCCCCCC:CCCCCCCC

(self)
4276183, ss1367898394, ss3783606299 NC_000001.10:173920460:C: NC_000001.11:173951322:CCCCCCCCC:C…

NC_000001.11:173951322:CCCCCCCCC:CCCCCCCC

(self)
36638588, ss3799975755, ss3945918019, ss4006048247, ss4473032253, ss5244759573, ss5445300271 NC_000001.11:173951322:C: NC_000001.11:173951322:CCCCCCCCC:C…

NC_000001.11:173951322:CCCCCCCCC:CCCCCCCC

(self)
6267570837 NC_000001.11:173951322:CCCCCCCCC:C…

NC_000001.11:173951322:CCCCCCCCC:CCCCCCCC

NC_000001.11:173951322:CCCCCCCCC:C…

NC_000001.11:173951322:CCCCCCCCC:CCCCCCCC

(self)
ss326101044, ss552818316 NC_000001.9:172187083::C NC_000001.11:173951322:CCCCCCCCC:C…

NC_000001.11:173951322:CCCCCCCCC:CCCCCCCCCC

(self)
ss288056829 NC_000001.9:172187092::C NC_000001.11:173951322:CCCCCCCCC:C…

NC_000001.11:173951322:CCCCCCCCC:CCCCCCCCCC

(self)
2338655, 1653902, 181550, 1016544, 889492, 2338655, ss663133099, ss666116401, ss975824871, ss1574051121, ss1701414054, ss1701414055, ss2030357599, ss2624532754, ss2987970343, ss3655915654, ss3727604627, ss3826495709, ss5147088910, ss5832851942, ss5938666101 NC_000001.10:173920460::C NC_000001.11:173951322:CCCCCCCCC:C…

NC_000001.11:173951322:CCCCCCCCC:CCCCCCCCCC

(self)
ss1367898397 NC_000001.10:173920461::C NC_000001.11:173951322:CCCCCCCCC:C…

NC_000001.11:173951322:CCCCCCCCC:CCCCCCCCCC

(self)
ss554524220 NC_000001.10:173920469::C NC_000001.11:173951322:CCCCCCCCC:C…

NC_000001.11:173951322:CCCCCCCCC:CCCCCCCCCC

(self)
ss3688045101, ss4006048245, ss5244759572, ss5445300270, ss5674462276, ss5849164155 NC_000001.11:173951322::C NC_000001.11:173951322:CCCCCCCCC:C…

NC_000001.11:173951322:CCCCCCCCC:CCCCCCCCCC

(self)
6267570837 NC_000001.11:173951322:CCCCCCCCC:C…

NC_000001.11:173951322:CCCCCCCCC:CCCCCCCCCC

NC_000001.11:173951322:CCCCCCCCC:C…

NC_000001.11:173951322:CCCCCCCCC:CCCCCCCCCC

(self)
ss3799975754, ss3945918018 NC_000001.11:173951323::C NC_000001.11:173951322:CCCCCCCCC:C…

NC_000001.11:173951322:CCCCCCCCC:CCCCCCCCCC

(self)
ss5147088911 NC_000001.10:173920460::CC NC_000001.11:173951322:CCCCCCCCC:C…

NC_000001.11:173951322:CCCCCCCCC:CCCCCCCCCCC

(self)
ss4006048246, ss5244759574, ss5674462277 NC_000001.11:173951322::CC NC_000001.11:173951322:CCCCCCCCC:C…

NC_000001.11:173951322:CCCCCCCCC:CCCCCCCCCCC

(self)
6267570837 NC_000001.11:173951322:CCCCCCCCC:C…

NC_000001.11:173951322:CCCCCCCCC:CCCCCCCCCCC

NC_000001.11:173951322:CCCCCCCCC:C…

NC_000001.11:173951322:CCCCCCCCC:CCCCCCCCCCC

(self)
ss5674462278 NC_000001.11:173951322::CCC NC_000001.11:173951322:CCCCCCCCC:C…

NC_000001.11:173951322:CCCCCCCCC:CCCCCCCCCCCC

6267570837 NC_000001.11:173951322:CCCCCCCCC:C…

NC_000001.11:173951322:CCCCCCCCC:CCCCCCCCCCCC

NC_000001.11:173951322:CCCCCCCCC:C…

NC_000001.11:173951322:CCCCCCCCC:CCCCCCCCCCCC

(self)
Help

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

No publications for rs149177436

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.post820+afb47a3d