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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.

rs146746895

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:168897966-168897976 (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
delTT / delT / dupT
Variation Type
Indel Insertion and Deletion
Frequency
delT=0.126926 (33596/264690, TOPMED)
delT=0.04665 (625/13398, ALFA)
delT=0.1066 (534/5008, 1000G) (+ 4 more)
delT=0.1295 (499/3854, ALSPAC)
delT=0.1179 (437/3708, TWINSUK)
delT=0.090 (54/600, NorthernSweden)
delT=0.05 (2/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CBR4 : Intron Variant
PALLD : 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 13398 TTTTTTTTTTT=0.95260 TTTTTTTTT=0.00000, TTTTTTTTTT=0.04665, TTTTTTTTTTTT=0.00075 0.913739 0.006727 0.079534 32
European Sub 10204 TTTTTTTTTTT=0.93797 TTTTTTTTT=0.00000, TTTTTTTTTT=0.06115, TTTTTTTTTTTT=0.00088 0.886904 0.008836 0.104261 22
African Sub 2056 TTTTTTTTTTT=1.0000 TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000 1.0 0.0 0.0 N/A
African Others Sub 72 TTTTTTTTTTT=1.00 TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
African American Sub 1984 TTTTTTTTTTT=1.0000 TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000 1.0 0.0 0.0 N/A
Asian Sub 94 TTTTTTTTTTT=1.00 TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
East Asian Sub 74 TTTTTTTTTTT=1.00 TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 20 TTTTTTTTTTT=1.00 TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 102 TTTTTTTTTTT=1.000 TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 500 TTTTTTTTTTT=1.000 TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
South Asian Sub 76 TTTTTTTTTTT=1.00 TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Other Sub 366 TTTTTTTTTTT=0.995 TTTTTTTTT=0.000, TTTTTTTTTT=0.003, TTTTTTTTTTTT=0.003 0.994505 0.0 0.005495 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 (T)11=0.873074 delT=0.126926
Allele Frequency Aggregator Total Global 13398 (T)11=0.95260 delTT=0.00000, delT=0.04665, dupT=0.00075
Allele Frequency Aggregator European Sub 10204 (T)11=0.93797 delTT=0.00000, delT=0.06115, dupT=0.00088
Allele Frequency Aggregator African Sub 2056 (T)11=1.0000 delTT=0.0000, delT=0.0000, dupT=0.0000
Allele Frequency Aggregator Latin American 2 Sub 500 (T)11=1.000 delTT=0.000, delT=0.000, dupT=0.000
Allele Frequency Aggregator Other Sub 366 (T)11=0.995 delTT=0.000, delT=0.003, dupT=0.003
Allele Frequency Aggregator Latin American 1 Sub 102 (T)11=1.000 delTT=0.000, delT=0.000, dupT=0.000
Allele Frequency Aggregator Asian Sub 94 (T)11=1.00 delTT=0.00, delT=0.00, dupT=0.00
Allele Frequency Aggregator South Asian Sub 76 (T)11=1.00 delTT=0.00, delT=0.00, dupT=0.00
1000Genomes Global Study-wide 5008 (T)11=0.8934 delT=0.1066
1000Genomes African Sub 1322 (T)11=0.8623 delT=0.1377
1000Genomes East Asian Sub 1008 (T)11=0.9236 delT=0.0764
1000Genomes Europe Sub 1006 (T)11=0.8509 delT=0.1491
1000Genomes South Asian Sub 978 (T)11=0.910 delT=0.090
1000Genomes American Sub 694 (T)11=0.947 delT=0.053
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 (T)11=0.8705 delT=0.1295
UK 10K study - Twins TWIN COHORT Study-wide 3708 (T)11=0.8821 delT=0.1179
Northern Sweden ACPOP Study-wide 600 (T)11=0.910 delT=0.090
The Danish reference pan genome Danish Study-wide 40 (T)11=0.95 delT=0.05
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 4 NC_000004.12:g.168897975_168897976del
GRCh38.p14 chr 4 NC_000004.12:g.168897976del
GRCh38.p14 chr 4 NC_000004.12:g.168897976dup
GRCh37.p13 chr 4 NC_000004.11:g.169819126_169819127del
GRCh37.p13 chr 4 NC_000004.11:g.169819127del
GRCh37.p13 chr 4 NC_000004.11:g.169819127dup
PALLD RefSeqGene NG_013376.1:g.405910_405911del
PALLD RefSeqGene NG_013376.1:g.405911del
PALLD RefSeqGene NG_013376.1:g.405911dup
Gene: PALLD, palladin, cytoskeletal associated protein (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PALLD transcript variant 1 NM_001166108.2:c.2251-518…

NM_001166108.2:c.2251-518_2251-517del

N/A Intron Variant
PALLD transcript variant 3 NM_001166109.2:c.1054-518…

NM_001166109.2:c.1054-518_1054-517del

N/A Intron Variant
PALLD transcript variant 4 NM_001166110.2:c.739-518_…

NM_001166110.2:c.739-518_739-517del

N/A Intron Variant
PALLD transcript variant 5 NM_001367567.1:c.79-518_7…

NM_001367567.1:c.79-518_79-517del

N/A Intron Variant
PALLD transcript variant 6 NM_001367568.1:c.130-518_…

NM_001367568.1:c.130-518_130-517del

N/A Intron Variant
PALLD transcript variant 7 NM_001367569.1:c.79-518_7…

NM_001367569.1:c.79-518_79-517del

N/A Intron Variant
PALLD transcript variant 8 NM_001367570.1:c.130-518_…

NM_001367570.1:c.130-518_130-517del

N/A Intron Variant
PALLD transcript variant 2 NM_016081.4:c.2200-518_22…

NM_016081.4:c.2200-518_2200-517del

N/A Intron Variant
PALLD transcript variant X1 XM_011531768.3:c.3127-518…

XM_011531768.3:c.3127-518_3127-517del

N/A Intron Variant
PALLD transcript variant X2 XM_011531769.3:c.3076-518…

XM_011531769.3:c.3076-518_3076-517del

N/A Intron Variant
PALLD transcript variant X5 XM_011531771.3:c.3075+329…

XM_011531771.3:c.3075+3298_3075+3299del

N/A Intron Variant
PALLD transcript variant X6 XM_011531772.3:c.2977-578…

XM_011531772.3:c.2977-5782_2977-5781del

N/A Intron Variant
PALLD transcript variant X7 XM_011531773.2:c.2455-518…

XM_011531773.2:c.2455-518_2455-517del

N/A Intron Variant
PALLD transcript variant X8 XM_011531774.2:c.2404-518…

XM_011531774.2:c.2404-518_2404-517del

N/A Intron Variant
PALLD transcript variant X10 XM_011531775.2:c.1777-518…

XM_011531775.2:c.1777-518_1777-517del

N/A Intron Variant
PALLD transcript variant X11 XM_024453939.2:c.1777-518…

XM_024453939.2:c.1777-518_1777-517del

N/A Intron Variant
PALLD transcript variant X15 XM_024453940.2:c.790-518_…

XM_024453940.2:c.790-518_790-517del

N/A Intron Variant
PALLD transcript variant X3 XM_047449861.1:c.3127-518…

XM_047449861.1:c.3127-518_3127-517del

N/A Intron Variant
PALLD transcript variant X4 XM_047449862.1:c.3076-518…

XM_047449862.1:c.3076-518_3076-517del

N/A Intron Variant
PALLD transcript variant X9 XM_047449863.1:c.2305-578…

XM_047449863.1:c.2305-5782_2305-5781del

N/A Intron Variant
PALLD transcript variant X12 XM_047449864.1:c.1777-518…

XM_047449864.1:c.1777-518_1777-517del

N/A Intron Variant
PALLD transcript variant X13 XM_047449865.1:c.1726-518…

XM_047449865.1:c.1726-518_1726-517del

N/A Intron Variant
PALLD transcript variant X14 XM_047449866.1:c.1054-518…

XM_047449866.1:c.1054-518_1054-517del

N/A Intron Variant
PALLD transcript variant X16 XM_047449867.1:c.738+3298…

XM_047449867.1:c.738+3298_738+3299del

N/A Intron Variant
PALLD transcript variant X17 XM_047449868.1:c.640-5782…

XM_047449868.1:c.640-5782_640-5781del

N/A Intron Variant
PALLD transcript variant X18 XM_047449869.1:c.738+3298…

XM_047449869.1:c.738+3298_738+3299del

N/A Intron Variant
PALLD transcript variant X19 XM_047449870.1:c.79-518_7…

XM_047449870.1:c.79-518_79-517del

N/A Intron Variant
Gene: CBR4, carbonyl reductase 4 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CBR4 transcript NM_032783.5:c. N/A Genic Downstream Transcript Variant
CBR4 transcript variant X3 XM_005263315.4:c.536-3202…

XM_005263315.4:c.536-3202_536-3201del

N/A Intron Variant
CBR4 transcript variant X2 XM_017008782.2:c.566-3202…

XM_017008782.2:c.566-3202_566-3201del

N/A Intron Variant
CBR4 transcript variant X1 XM_006714391.2:c. N/A Genic Downstream Transcript Variant
CBR4 transcript variant X7 XM_011532385.2:c. N/A Genic Downstream Transcript Variant
CBR4 transcript variant X9 XM_011532386.3:c. N/A Genic Downstream Transcript Variant
CBR4 transcript variant X4 XM_017008783.3:c. N/A Genic Downstream Transcript Variant
CBR4 transcript variant X8 XM_047416331.1:c. N/A Genic Downstream Transcript Variant
CBR4 transcript variant X5 XR_001741341.2:n. N/A Intron Variant
CBR4 transcript variant X6 XR_007057980.1:n. 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)11= delTT delT dupT
GRCh38.p14 chr 4 NC_000004.12:g.168897966_168897976= NC_000004.12:g.168897975_168897976del NC_000004.12:g.168897976del NC_000004.12:g.168897976dup
GRCh37.p13 chr 4 NC_000004.11:g.169819117_169819127= NC_000004.11:g.169819126_169819127del NC_000004.11:g.169819127del NC_000004.11:g.169819127dup
PALLD RefSeqGene NG_013376.1:g.405901_405911= NG_013376.1:g.405910_405911del NG_013376.1:g.405911del NG_013376.1:g.405911dup
PALLD transcript variant 1 NM_001166108.1:c.2251-527= NM_001166108.1:c.2251-518_2251-517del NM_001166108.1:c.2251-517del NM_001166108.1:c.2251-517dup
PALLD transcript variant 1 NM_001166108.2:c.2251-527= NM_001166108.2:c.2251-518_2251-517del NM_001166108.2:c.2251-517del NM_001166108.2:c.2251-517dup
PALLD transcript variant 3 NM_001166109.1:c.1054-527= NM_001166109.1:c.1054-518_1054-517del NM_001166109.1:c.1054-517del NM_001166109.1:c.1054-517dup
PALLD transcript variant 3 NM_001166109.2:c.1054-527= NM_001166109.2:c.1054-518_1054-517del NM_001166109.2:c.1054-517del NM_001166109.2:c.1054-517dup
PALLD transcript variant 4 NM_001166110.1:c.739-527= NM_001166110.1:c.739-518_739-517del NM_001166110.1:c.739-517del NM_001166110.1:c.739-517dup
PALLD transcript variant 4 NM_001166110.2:c.739-527= NM_001166110.2:c.739-518_739-517del NM_001166110.2:c.739-517del NM_001166110.2:c.739-517dup
PALLD transcript variant 5 NM_001367567.1:c.79-527= NM_001367567.1:c.79-518_79-517del NM_001367567.1:c.79-517del NM_001367567.1:c.79-517dup
PALLD transcript variant 6 NM_001367568.1:c.130-527= NM_001367568.1:c.130-518_130-517del NM_001367568.1:c.130-517del NM_001367568.1:c.130-517dup
PALLD transcript variant 7 NM_001367569.1:c.79-527= NM_001367569.1:c.79-518_79-517del NM_001367569.1:c.79-517del NM_001367569.1:c.79-517dup
PALLD transcript variant 8 NM_001367570.1:c.130-527= NM_001367570.1:c.130-518_130-517del NM_001367570.1:c.130-517del NM_001367570.1:c.130-517dup
PALLD transcript variant 2 NM_016081.3:c.2200-527= NM_016081.3:c.2200-518_2200-517del NM_016081.3:c.2200-517del NM_016081.3:c.2200-517dup
PALLD transcript variant 2 NM_016081.4:c.2200-527= NM_016081.4:c.2200-518_2200-517del NM_016081.4:c.2200-517del NM_016081.4:c.2200-517dup
PALLD transcript variant X1 XM_005262861.1:c.2923-527= XM_005262861.1:c.2923-518_2923-517del XM_005262861.1:c.2923-517del XM_005262861.1:c.2923-517dup
PALLD transcript variant X2 XM_005262862.1:c.2872-527= XM_005262862.1:c.2872-518_2872-517del XM_005262862.1:c.2872-517del XM_005262862.1:c.2872-517dup
PALLD transcript variant X3 XM_005262863.1:c.2923-527= XM_005262863.1:c.2923-518_2923-517del XM_005262863.1:c.2923-517del XM_005262863.1:c.2923-517dup
PALLD transcript variant X4 XM_005262864.1:c.2871+3289= XM_005262864.1:c.2871+3298_2871+3299del XM_005262864.1:c.2871+3299del XM_005262864.1:c.2871+3299dup
PALLD transcript variant X5 XM_005262865.1:c.2773-5791= XM_005262865.1:c.2773-5782_2773-5781del XM_005262865.1:c.2773-5781del XM_005262865.1:c.2773-5781dup
PALLD transcript variant X6 XM_005262866.1:c.1777-527= XM_005262866.1:c.1777-518_1777-517del XM_005262866.1:c.1777-517del XM_005262866.1:c.1777-517dup
CBR4 transcript variant X2 XM_005263315.1:c.536-3201= XM_005263315.1:c.536-3202_536-3201del XM_005263315.1:c.536-3201del XM_005263315.1:c.536-3201dup
CBR4 transcript variant X3 XM_005263315.4:c.536-3201= XM_005263315.4:c.536-3202_536-3201del XM_005263315.4:c.536-3201del XM_005263315.4:c.536-3201dup
PALLD transcript variant X1 XM_011531768.3:c.3127-527= XM_011531768.3:c.3127-518_3127-517del XM_011531768.3:c.3127-517del XM_011531768.3:c.3127-517dup
PALLD transcript variant X2 XM_011531769.3:c.3076-527= XM_011531769.3:c.3076-518_3076-517del XM_011531769.3:c.3076-517del XM_011531769.3:c.3076-517dup
PALLD transcript variant X5 XM_011531771.3:c.3075+3289= XM_011531771.3:c.3075+3298_3075+3299del XM_011531771.3:c.3075+3299del XM_011531771.3:c.3075+3299dup
PALLD transcript variant X6 XM_011531772.3:c.2977-5791= XM_011531772.3:c.2977-5782_2977-5781del XM_011531772.3:c.2977-5781del XM_011531772.3:c.2977-5781dup
PALLD transcript variant X7 XM_011531773.2:c.2455-527= XM_011531773.2:c.2455-518_2455-517del XM_011531773.2:c.2455-517del XM_011531773.2:c.2455-517dup
PALLD transcript variant X8 XM_011531774.2:c.2404-527= XM_011531774.2:c.2404-518_2404-517del XM_011531774.2:c.2404-517del XM_011531774.2:c.2404-517dup
PALLD transcript variant X10 XM_011531775.2:c.1777-527= XM_011531775.2:c.1777-518_1777-517del XM_011531775.2:c.1777-517del XM_011531775.2:c.1777-517dup
CBR4 transcript variant X2 XM_017008782.2:c.566-3201= XM_017008782.2:c.566-3202_566-3201del XM_017008782.2:c.566-3201del XM_017008782.2:c.566-3201dup
PALLD transcript variant X11 XM_024453939.2:c.1777-527= XM_024453939.2:c.1777-518_1777-517del XM_024453939.2:c.1777-517del XM_024453939.2:c.1777-517dup
PALLD transcript variant X15 XM_024453940.2:c.790-527= XM_024453940.2:c.790-518_790-517del XM_024453940.2:c.790-517del XM_024453940.2:c.790-517dup
PALLD transcript variant X3 XM_047449861.1:c.3127-527= XM_047449861.1:c.3127-518_3127-517del XM_047449861.1:c.3127-517del XM_047449861.1:c.3127-517dup
PALLD transcript variant X4 XM_047449862.1:c.3076-527= XM_047449862.1:c.3076-518_3076-517del XM_047449862.1:c.3076-517del XM_047449862.1:c.3076-517dup
PALLD transcript variant X9 XM_047449863.1:c.2305-5791= XM_047449863.1:c.2305-5782_2305-5781del XM_047449863.1:c.2305-5781del XM_047449863.1:c.2305-5781dup
PALLD transcript variant X12 XM_047449864.1:c.1777-527= XM_047449864.1:c.1777-518_1777-517del XM_047449864.1:c.1777-517del XM_047449864.1:c.1777-517dup
PALLD transcript variant X13 XM_047449865.1:c.1726-527= XM_047449865.1:c.1726-518_1726-517del XM_047449865.1:c.1726-517del XM_047449865.1:c.1726-517dup
PALLD transcript variant X14 XM_047449866.1:c.1054-527= XM_047449866.1:c.1054-518_1054-517del XM_047449866.1:c.1054-517del XM_047449866.1:c.1054-517dup
PALLD transcript variant X16 XM_047449867.1:c.738+3289= XM_047449867.1:c.738+3298_738+3299del XM_047449867.1:c.738+3299del XM_047449867.1:c.738+3299dup
PALLD transcript variant X17 XM_047449868.1:c.640-5791= XM_047449868.1:c.640-5782_640-5781del XM_047449868.1:c.640-5781del XM_047449868.1:c.640-5781dup
PALLD transcript variant X18 XM_047449869.1:c.738+3289= XM_047449869.1:c.738+3298_738+3299del XM_047449869.1:c.738+3299del XM_047449869.1:c.738+3299dup
PALLD transcript variant X19 XM_047449870.1:c.79-527= XM_047449870.1:c.79-518_79-517del XM_047449870.1:c.79-517del XM_047449870.1:c.79-517dup
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, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 GMI ss287762330 May 09, 2011 (134)
2 SSMP ss663480313 Apr 01, 2015 (144)
3 BILGI_BIOE ss666288517 Apr 25, 2013 (138)
4 1000GENOMES ss1373110245 Aug 21, 2014 (142)
5 EVA_GENOME_DK ss1576397269 Apr 01, 2015 (144)
6 EVA_UK10K_ALSPAC ss1704463827 Apr 01, 2015 (144)
7 EVA_UK10K_TWINSUK ss1704465327 Apr 01, 2015 (144)
8 JJLAB ss2030648399 Sep 14, 2016 (149)
9 SWEGEN ss2996002023 Nov 08, 2017 (151)
10 MCHAISSO ss3065003061 Nov 08, 2017 (151)
11 BIOINF_KMB_FNS_UNIBA ss3645843362 Oct 12, 2018 (152)
12 EVA_DECODE ss3713601285 Jul 13, 2019 (153)
13 EVA_DECODE ss3713601286 Jul 13, 2019 (153)
14 ACPOP ss3731851599 Jul 13, 2019 (153)
15 PACBIO ss3784941143 Jul 13, 2019 (153)
16 PACBIO ss3790366248 Jul 13, 2019 (153)
17 PACBIO ss3795241931 Jul 13, 2019 (153)
18 KHV_HUMAN_GENOMES ss3805911530 Jul 13, 2019 (153)
19 EVA ss3828952297 Apr 26, 2020 (154)
20 EVA ss3837928513 Apr 26, 2020 (154)
21 EVA ss3843369876 Apr 26, 2020 (154)
22 KOGIC ss3955634672 Apr 26, 2020 (154)
23 KOGIC ss3955634673 Apr 26, 2020 (154)
24 GNOMAD ss4125212531 Apr 26, 2021 (155)
25 GNOMAD ss4125212533 Apr 26, 2021 (155)
26 GNOMAD ss4125212534 Apr 26, 2021 (155)
27 TOPMED ss4641565666 Apr 26, 2021 (155)
28 TOMMO_GENOMICS ss5169248921 Apr 26, 2021 (155)
29 TOMMO_GENOMICS ss5169248922 Apr 26, 2021 (155)
30 TOMMO_GENOMICS ss5169248923 Apr 26, 2021 (155)
31 1000G_HIGH_COVERAGE ss5261988574 Oct 17, 2022 (156)
32 1000G_HIGH_COVERAGE ss5261988575 Oct 17, 2022 (156)
33 HUGCELL_USP ss5460439637 Oct 17, 2022 (156)
34 HUGCELL_USP ss5460439638 Oct 17, 2022 (156)
35 HUGCELL_USP ss5460439640 Oct 17, 2022 (156)
36 TOMMO_GENOMICS ss5704583115 Oct 17, 2022 (156)
37 TOMMO_GENOMICS ss5704583116 Oct 17, 2022 (156)
38 TOMMO_GENOMICS ss5704583117 Oct 17, 2022 (156)
39 YY_MCH ss5805782476 Oct 17, 2022 (156)
40 EVA ss5845095885 Oct 17, 2022 (156)
41 EVA ss5854563291 Oct 17, 2022 (156)
42 EVA ss5866601308 Oct 17, 2022 (156)
43 EVA ss5965069711 Oct 17, 2022 (156)
44 1000Genomes NC_000004.11 - 169819117 Oct 12, 2018 (152)
45 The Avon Longitudinal Study of Parents and Children NC_000004.11 - 169819117 Oct 12, 2018 (152)
46 The Danish reference pan genome NC_000004.11 - 169819117 Apr 26, 2020 (154)
47 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 173002933 (NC_000004.12:168897965::T 734/134590)
Row 173002935 (NC_000004.12:168897965:T: 17841/134522)
Row 173002936 (NC_000004.12:168897965:TT: 5/134626)

- Apr 26, 2021 (155)
48 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 173002933 (NC_000004.12:168897965::T 734/134590)
Row 173002935 (NC_000004.12:168897965:T: 17841/134522)
Row 173002936 (NC_000004.12:168897965:TT: 5/134626)

- Apr 26, 2021 (155)
49 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 173002933 (NC_000004.12:168897965::T 734/134590)
Row 173002935 (NC_000004.12:168897965:T: 17841/134522)
Row 173002936 (NC_000004.12:168897965:TT: 5/134626)

- Apr 26, 2021 (155)
50 Korean Genome Project

Submission ignored due to conflicting rows:
Row 12012673 (NC_000004.12:168897966::T 17/1832)
Row 12012674 (NC_000004.12:168897965:T: 138/1832)

- Apr 26, 2020 (154)
51 Korean Genome Project

Submission ignored due to conflicting rows:
Row 12012673 (NC_000004.12:168897966::T 17/1832)
Row 12012674 (NC_000004.12:168897965:T: 138/1832)

- Apr 26, 2020 (154)
52 Northern Sweden NC_000004.11 - 169819117 Jul 13, 2019 (153)
53 8.3KJPN

Submission ignored due to conflicting rows:
Row 27218228 (NC_000004.11:169819116:T: 1644/16760)
Row 27218229 (NC_000004.11:169819116:TT: 2/16760)
Row 27218230 (NC_000004.11:169819116::T 2/16760)

- Apr 26, 2021 (155)
54 8.3KJPN

Submission ignored due to conflicting rows:
Row 27218228 (NC_000004.11:169819116:T: 1644/16760)
Row 27218229 (NC_000004.11:169819116:TT: 2/16760)
Row 27218230 (NC_000004.11:169819116::T 2/16760)

- Apr 26, 2021 (155)
55 8.3KJPN

Submission ignored due to conflicting rows:
Row 27218228 (NC_000004.11:169819116:T: 1644/16760)
Row 27218229 (NC_000004.11:169819116:TT: 2/16760)
Row 27218230 (NC_000004.11:169819116::T 2/16760)

- Apr 26, 2021 (155)
56 14KJPN

Submission ignored due to conflicting rows:
Row 38420219 (NC_000004.12:168897965:T: 2815/28258)
Row 38420220 (NC_000004.12:168897965:TT: 4/28258)
Row 38420221 (NC_000004.12:168897965::T 4/28258)

- Oct 17, 2022 (156)
57 14KJPN

Submission ignored due to conflicting rows:
Row 38420219 (NC_000004.12:168897965:T: 2815/28258)
Row 38420220 (NC_000004.12:168897965:TT: 4/28258)
Row 38420221 (NC_000004.12:168897965::T 4/28258)

- Oct 17, 2022 (156)
58 14KJPN

Submission ignored due to conflicting rows:
Row 38420219 (NC_000004.12:168897965:T: 2815/28258)
Row 38420220 (NC_000004.12:168897965:TT: 4/28258)
Row 38420221 (NC_000004.12:168897965::T 4/28258)

- Oct 17, 2022 (156)
59 TopMed NC_000004.12 - 168897966 Apr 26, 2021 (155)
60 UK 10K study - Twins NC_000004.11 - 169819117 Oct 12, 2018 (152)
61 ALFA NC_000004.12 - 168897966 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)
rs376314367 May 13, 2013 (138)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss5169248922 NC_000004.11:169819116:TT: NC_000004.12:168897965:TTTTTTTTTTT…

NC_000004.12:168897965:TTTTTTTTTTT:TTTTTTTTT

(self)
ss4125212534, ss5460439640, ss5704583116 NC_000004.12:168897965:TT: NC_000004.12:168897965:TTTTTTTTTTT…

NC_000004.12:168897965:TTTTTTTTTTT:TTTTTTTTT

(self)
9092621062 NC_000004.12:168897965:TTTTTTTTTTT…

NC_000004.12:168897965:TTTTTTTTTTT:TTTTTTTTT

NC_000004.12:168897965:TTTTTTTTTTT…

NC_000004.12:168897965:TTTTTTTTTTT:TTTTTTTTT

(self)
24431580, 13590660, 961561, 5136464, 13590660, ss663480313, ss666288517, ss1373110245, ss1576397269, ss1704463827, ss1704465327, ss2030648399, ss2996002023, ss3731851599, ss3784941143, ss3790366248, ss3795241931, ss3828952297, ss3837928513, ss5169248921, ss5845095885, ss5965069711 NC_000004.11:169819116:T: NC_000004.12:168897965:TTTTTTTTTTT…

NC_000004.12:168897965:TTTTTTTTTTT:TTTTTTTTTT

(self)
478943222, ss3065003061, ss3645843362, ss3713601285, ss3805911530, ss3843369876, ss3955634673, ss4125212533, ss4641565666, ss5261988574, ss5460439638, ss5704583115, ss5805782476, ss5854563291, ss5866601308 NC_000004.12:168897965:T: NC_000004.12:168897965:TTTTTTTTTTT…

NC_000004.12:168897965:TTTTTTTTTTT:TTTTTTTTTT

(self)
9092621062 NC_000004.12:168897965:TTTTTTTTTTT…

NC_000004.12:168897965:TTTTTTTTTTT:TTTTTTTTTT

NC_000004.12:168897965:TTTTTTTTTTT…

NC_000004.12:168897965:TTTTTTTTTTT:TTTTTTTTTT

(self)
ss287762330 NT_016354.19:94366837:T: NC_000004.12:168897965:TTTTTTTTTTT…

NC_000004.12:168897965:TTTTTTTTTTT:TTTTTTTTTT

(self)
ss5169248923 NC_000004.11:169819116::T NC_000004.12:168897965:TTTTTTTTTTT…

NC_000004.12:168897965:TTTTTTTTTTT:TTTTTTTTTTTT

(self)
ss4125212531, ss5261988575, ss5460439637, ss5704583117 NC_000004.12:168897965::T NC_000004.12:168897965:TTTTTTTTTTT…

NC_000004.12:168897965:TTTTTTTTTTT:TTTTTTTTTTTT

(self)
9092621062 NC_000004.12:168897965:TTTTTTTTTTT…

NC_000004.12:168897965:TTTTTTTTTTT:TTTTTTTTTTTT

NC_000004.12:168897965:TTTTTTTTTTT…

NC_000004.12:168897965:TTTTTTTTTTT:TTTTTTTTTTTT

(self)
ss3713601286, ss3955634672 NC_000004.12:168897966::T NC_000004.12:168897965:TTTTTTTTTTT…

NC_000004.12:168897965:TTTTTTTTTTT:TTTTTTTTTTTT

(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 rs146746895

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