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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.

rs66720211

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr3:149148400-149148420 (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
del(T)12 / del(T)10 / del(T)8 / de…

del(T)12 / del(T)10 / del(T)8 / del(T)6 / del(T)5 / del(T)4 / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)4 / dup(T)5 / dup(T)6 / dup(T)7 / dup(T)8 / dup(T)9 / dup(T)11 / dup(T)13 / dup(T)14 / ins(T)24 / ins(T)31

Variation Type
Indel Insertion and Deletion
Frequency
del(T)12=0.000004 (1/264690, TOPMED)
delTT=0.0931 (731/7848, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
HPS3 : 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 7848 TTTTTTTTTTTTTTTTTTTTT=0.8045 TTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0931, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0027, TTTTTTTTTTTTTTTTTTTTTTT=0.0234, TTTTTTTTTTTTTTTTTTTTTTTT=0.0626, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0120, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0017 0.848182 0.019394 0.132424 32
European Sub 6872 TTTTTTTTTTTTTTTTTTTTT=0.7772 TTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.1062, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0029, TTTTTTTTTTTTTTTTTTTTTTT=0.0268, TTTTTTTTTTTTTTTTTTTTTTTT=0.0713, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0137, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0019 0.822254 0.022752 0.154995 30
African Sub 544 TTTTTTTTTTTTTTTTTTTTT=1.000 TTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
African Others Sub 18 TTTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
African American Sub 526 TTTTTTTTTTTTTTTTTTTTT=1.000 TTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
Asian Sub 40 TTTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
East Asian Sub 32 TTTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 8 TTTTTTTTTTTTTTTTTTTTT=1.0 TTTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
Latin American 1 Sub 50 TTTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 202 TTTTTTTTTTTTTTTTTTTTT=1.000 TTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
South Asian Sub 16 TTTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Other Sub 124 TTTTTTTTTTTTTTTTTTTTT=0.976 TTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.008, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.008, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.008, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000 0.983607 0.0 0.016393 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)21=0.999996 del(T)12=0.000004
Allele Frequency Aggregator Total Global 7848 (T)21=0.8045 del(T)12=0.0000, del(T)10=0.0000, del(T)8=0.0000, del(T)6=0.0000, del(T)5=0.0000, del(T)4=0.0000, delTTT=0.0000, delTT=0.0931, delT=0.0000, dupT=0.0027, dupTT=0.0234, dupTTT=0.0626, dup(T)4=0.0120, dup(T)5=0.0017
Allele Frequency Aggregator European Sub 6872 (T)21=0.7772 del(T)12=0.0000, del(T)10=0.0000, del(T)8=0.0000, del(T)6=0.0000, del(T)5=0.0000, del(T)4=0.0000, delTTT=0.0000, delTT=0.1062, delT=0.0000, dupT=0.0029, dupTT=0.0268, dupTTT=0.0713, dup(T)4=0.0137, dup(T)5=0.0019
Allele Frequency Aggregator African Sub 544 (T)21=1.000 del(T)12=0.000, del(T)10=0.000, del(T)8=0.000, del(T)6=0.000, del(T)5=0.000, del(T)4=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)4=0.000, dup(T)5=0.000
Allele Frequency Aggregator Latin American 2 Sub 202 (T)21=1.000 del(T)12=0.000, del(T)10=0.000, del(T)8=0.000, del(T)6=0.000, del(T)5=0.000, del(T)4=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)4=0.000, dup(T)5=0.000
Allele Frequency Aggregator Other Sub 124 (T)21=0.976 del(T)12=0.000, del(T)10=0.000, del(T)8=0.000, del(T)6=0.000, del(T)5=0.000, del(T)4=0.000, delTTT=0.000, delTT=0.008, delT=0.000, dupT=0.008, dupTT=0.000, dupTTT=0.008, dup(T)4=0.000, dup(T)5=0.000
Allele Frequency Aggregator Latin American 1 Sub 50 (T)21=1.00 del(T)12=0.00, del(T)10=0.00, del(T)8=0.00, del(T)6=0.00, del(T)5=0.00, del(T)4=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)4=0.00, dup(T)5=0.00
Allele Frequency Aggregator Asian Sub 40 (T)21=1.00 del(T)12=0.00, del(T)10=0.00, del(T)8=0.00, del(T)6=0.00, del(T)5=0.00, del(T)4=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)4=0.00, dup(T)5=0.00
Allele Frequency Aggregator South Asian Sub 16 (T)21=1.00 del(T)12=0.00, del(T)10=0.00, del(T)8=0.00, del(T)6=0.00, del(T)5=0.00, del(T)4=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)4=0.00, dup(T)5=0.00
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 3 NC_000003.12:g.149148409_149148420del
GRCh38.p14 chr 3 NC_000003.12:g.149148411_149148420del
GRCh38.p14 chr 3 NC_000003.12:g.149148413_149148420del
GRCh38.p14 chr 3 NC_000003.12:g.149148415_149148420del
GRCh38.p14 chr 3 NC_000003.12:g.149148416_149148420del
GRCh38.p14 chr 3 NC_000003.12:g.149148417_149148420del
GRCh38.p14 chr 3 NC_000003.12:g.149148418_149148420del
GRCh38.p14 chr 3 NC_000003.12:g.149148419_149148420del
GRCh38.p14 chr 3 NC_000003.12:g.149148420del
GRCh38.p14 chr 3 NC_000003.12:g.149148420dup
GRCh38.p14 chr 3 NC_000003.12:g.149148419_149148420dup
GRCh38.p14 chr 3 NC_000003.12:g.149148418_149148420dup
GRCh38.p14 chr 3 NC_000003.12:g.149148417_149148420dup
GRCh38.p14 chr 3 NC_000003.12:g.149148416_149148420dup
GRCh38.p14 chr 3 NC_000003.12:g.149148415_149148420dup
GRCh38.p14 chr 3 NC_000003.12:g.149148414_149148420dup
GRCh38.p14 chr 3 NC_000003.12:g.149148413_149148420dup
GRCh38.p14 chr 3 NC_000003.12:g.149148412_149148420dup
GRCh38.p14 chr 3 NC_000003.12:g.149148410_149148420dup
GRCh38.p14 chr 3 NC_000003.12:g.149148408_149148420dup
GRCh38.p14 chr 3 NC_000003.12:g.149148407_149148420dup
GRCh38.p14 chr 3 NC_000003.12:g.149148420_149148421insTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 3 NC_000003.12:g.149148420_149148421insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 3 NC_000003.11:g.148866196_148866207del
GRCh37.p13 chr 3 NC_000003.11:g.148866198_148866207del
GRCh37.p13 chr 3 NC_000003.11:g.148866200_148866207del
GRCh37.p13 chr 3 NC_000003.11:g.148866202_148866207del
GRCh37.p13 chr 3 NC_000003.11:g.148866203_148866207del
GRCh37.p13 chr 3 NC_000003.11:g.148866204_148866207del
GRCh37.p13 chr 3 NC_000003.11:g.148866205_148866207del
GRCh37.p13 chr 3 NC_000003.11:g.148866206_148866207del
GRCh37.p13 chr 3 NC_000003.11:g.148866207del
GRCh37.p13 chr 3 NC_000003.11:g.148866207dup
GRCh37.p13 chr 3 NC_000003.11:g.148866206_148866207dup
GRCh37.p13 chr 3 NC_000003.11:g.148866205_148866207dup
GRCh37.p13 chr 3 NC_000003.11:g.148866204_148866207dup
GRCh37.p13 chr 3 NC_000003.11:g.148866203_148866207dup
GRCh37.p13 chr 3 NC_000003.11:g.148866202_148866207dup
GRCh37.p13 chr 3 NC_000003.11:g.148866201_148866207dup
GRCh37.p13 chr 3 NC_000003.11:g.148866200_148866207dup
GRCh37.p13 chr 3 NC_000003.11:g.148866199_148866207dup
GRCh37.p13 chr 3 NC_000003.11:g.148866197_148866207dup
GRCh37.p13 chr 3 NC_000003.11:g.148866195_148866207dup
GRCh37.p13 chr 3 NC_000003.11:g.148866194_148866207dup
GRCh37.p13 chr 3 NC_000003.11:g.148866207_148866208insTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 3 NC_000003.11:g.148866207_148866208insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
HPS3 RefSeqGene (LRG_563) NG_009847.1:g.23826_23837del
HPS3 RefSeqGene (LRG_563) NG_009847.1:g.23828_23837del
HPS3 RefSeqGene (LRG_563) NG_009847.1:g.23830_23837del
HPS3 RefSeqGene (LRG_563) NG_009847.1:g.23832_23837del
HPS3 RefSeqGene (LRG_563) NG_009847.1:g.23833_23837del
HPS3 RefSeqGene (LRG_563) NG_009847.1:g.23834_23837del
HPS3 RefSeqGene (LRG_563) NG_009847.1:g.23835_23837del
HPS3 RefSeqGene (LRG_563) NG_009847.1:g.23836_23837del
HPS3 RefSeqGene (LRG_563) NG_009847.1:g.23837del
HPS3 RefSeqGene (LRG_563) NG_009847.1:g.23837dup
HPS3 RefSeqGene (LRG_563) NG_009847.1:g.23836_23837dup
HPS3 RefSeqGene (LRG_563) NG_009847.1:g.23835_23837dup
HPS3 RefSeqGene (LRG_563) NG_009847.1:g.23834_23837dup
HPS3 RefSeqGene (LRG_563) NG_009847.1:g.23833_23837dup
HPS3 RefSeqGene (LRG_563) NG_009847.1:g.23832_23837dup
HPS3 RefSeqGene (LRG_563) NG_009847.1:g.23831_23837dup
HPS3 RefSeqGene (LRG_563) NG_009847.1:g.23830_23837dup
HPS3 RefSeqGene (LRG_563) NG_009847.1:g.23829_23837dup
HPS3 RefSeqGene (LRG_563) NG_009847.1:g.23827_23837dup
HPS3 RefSeqGene (LRG_563) NG_009847.1:g.23825_23837dup
HPS3 RefSeqGene (LRG_563) NG_009847.1:g.23824_23837dup
HPS3 RefSeqGene (LRG_563) NG_009847.1:g.23837_23838insTTTTTTTTTTTTTTTTTTTTTTTT
HPS3 RefSeqGene (LRG_563) NG_009847.1:g.23837_23838insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene: HPS3, HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
HPS3 transcript variant 2 NM_001308258.2:c.669-2190…

NM_001308258.2:c.669-2190_669-2179del

N/A Intron Variant
HPS3 transcript variant 1 NM_032383.5:c.1164-2190_1…

NM_032383.5:c.1164-2190_1164-2179del

N/A Intron Variant
HPS3 transcript variant X3 XM_005247834.5:c.1164-219…

XM_005247834.5:c.1164-2190_1164-2179del

N/A Intron Variant
HPS3 transcript variant X1 XM_047449064.1:c.1164-219…

XM_047449064.1:c.1164-2190_1164-2179del

N/A Intron Variant
HPS3 transcript variant X2 XR_001740328.3: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)21= del(T)12 del(T)10 del(T)8 del(T)6 del(T)5 del(T)4 delTTT delTT delT dupT dupTT dupTTT dup(T)4 dup(T)5 dup(T)6 dup(T)7 dup(T)8 dup(T)9 dup(T)11 dup(T)13 dup(T)14 ins(T)24 ins(T)31
GRCh38.p14 chr 3 NC_000003.12:g.149148400_149148420= NC_000003.12:g.149148409_149148420del NC_000003.12:g.149148411_149148420del NC_000003.12:g.149148413_149148420del NC_000003.12:g.149148415_149148420del NC_000003.12:g.149148416_149148420del NC_000003.12:g.149148417_149148420del NC_000003.12:g.149148418_149148420del NC_000003.12:g.149148419_149148420del NC_000003.12:g.149148420del NC_000003.12:g.149148420dup NC_000003.12:g.149148419_149148420dup NC_000003.12:g.149148418_149148420dup NC_000003.12:g.149148417_149148420dup NC_000003.12:g.149148416_149148420dup NC_000003.12:g.149148415_149148420dup NC_000003.12:g.149148414_149148420dup NC_000003.12:g.149148413_149148420dup NC_000003.12:g.149148412_149148420dup NC_000003.12:g.149148410_149148420dup NC_000003.12:g.149148408_149148420dup NC_000003.12:g.149148407_149148420dup NC_000003.12:g.149148420_149148421insTTTTTTTTTTTTTTTTTTTTTTTT NC_000003.12:g.149148420_149148421insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 3 NC_000003.11:g.148866187_148866207= NC_000003.11:g.148866196_148866207del NC_000003.11:g.148866198_148866207del NC_000003.11:g.148866200_148866207del NC_000003.11:g.148866202_148866207del NC_000003.11:g.148866203_148866207del NC_000003.11:g.148866204_148866207del NC_000003.11:g.148866205_148866207del NC_000003.11:g.148866206_148866207del NC_000003.11:g.148866207del NC_000003.11:g.148866207dup NC_000003.11:g.148866206_148866207dup NC_000003.11:g.148866205_148866207dup NC_000003.11:g.148866204_148866207dup NC_000003.11:g.148866203_148866207dup NC_000003.11:g.148866202_148866207dup NC_000003.11:g.148866201_148866207dup NC_000003.11:g.148866200_148866207dup NC_000003.11:g.148866199_148866207dup NC_000003.11:g.148866197_148866207dup NC_000003.11:g.148866195_148866207dup NC_000003.11:g.148866194_148866207dup NC_000003.11:g.148866207_148866208insTTTTTTTTTTTTTTTTTTTTTTTT NC_000003.11:g.148866207_148866208insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
HPS3 RefSeqGene (LRG_563) NG_009847.1:g.23817_23837= NG_009847.1:g.23826_23837del NG_009847.1:g.23828_23837del NG_009847.1:g.23830_23837del NG_009847.1:g.23832_23837del NG_009847.1:g.23833_23837del NG_009847.1:g.23834_23837del NG_009847.1:g.23835_23837del NG_009847.1:g.23836_23837del NG_009847.1:g.23837del NG_009847.1:g.23837dup NG_009847.1:g.23836_23837dup NG_009847.1:g.23835_23837dup NG_009847.1:g.23834_23837dup NG_009847.1:g.23833_23837dup NG_009847.1:g.23832_23837dup NG_009847.1:g.23831_23837dup NG_009847.1:g.23830_23837dup NG_009847.1:g.23829_23837dup NG_009847.1:g.23827_23837dup NG_009847.1:g.23825_23837dup NG_009847.1:g.23824_23837dup NG_009847.1:g.23837_23838insTTTTTTTTTTTTTTTTTTTTTTTT NG_009847.1:g.23837_23838insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
HPS3 transcript variant 2 NM_001308258.2:c.669-2199= NM_001308258.2:c.669-2190_669-2179del NM_001308258.2:c.669-2188_669-2179del NM_001308258.2:c.669-2186_669-2179del NM_001308258.2:c.669-2184_669-2179del NM_001308258.2:c.669-2183_669-2179del NM_001308258.2:c.669-2182_669-2179del NM_001308258.2:c.669-2181_669-2179del NM_001308258.2:c.669-2180_669-2179del NM_001308258.2:c.669-2179del NM_001308258.2:c.669-2179dup NM_001308258.2:c.669-2180_669-2179dup NM_001308258.2:c.669-2181_669-2179dup NM_001308258.2:c.669-2182_669-2179dup NM_001308258.2:c.669-2183_669-2179dup NM_001308258.2:c.669-2184_669-2179dup NM_001308258.2:c.669-2185_669-2179dup NM_001308258.2:c.669-2186_669-2179dup NM_001308258.2:c.669-2187_669-2179dup NM_001308258.2:c.669-2189_669-2179dup NM_001308258.2:c.669-2191_669-2179dup NM_001308258.2:c.669-2192_669-2179dup NM_001308258.2:c.669-2179_669-2178insTTTTTTTTTTTTTTTTTTTTTTTT NM_001308258.2:c.669-2179_669-2178insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
HPS3 transcript NM_032383.3:c.1164-2199= NM_032383.3:c.1164-2190_1164-2179del NM_032383.3:c.1164-2188_1164-2179del NM_032383.3:c.1164-2186_1164-2179del NM_032383.3:c.1164-2184_1164-2179del NM_032383.3:c.1164-2183_1164-2179del NM_032383.3:c.1164-2182_1164-2179del NM_032383.3:c.1164-2181_1164-2179del NM_032383.3:c.1164-2180_1164-2179del NM_032383.3:c.1164-2179del NM_032383.3:c.1164-2179dup NM_032383.3:c.1164-2180_1164-2179dup NM_032383.3:c.1164-2181_1164-2179dup NM_032383.3:c.1164-2182_1164-2179dup NM_032383.3:c.1164-2183_1164-2179dup NM_032383.3:c.1164-2184_1164-2179dup NM_032383.3:c.1164-2185_1164-2179dup NM_032383.3:c.1164-2186_1164-2179dup NM_032383.3:c.1164-2187_1164-2179dup NM_032383.3:c.1164-2189_1164-2179dup NM_032383.3:c.1164-2191_1164-2179dup NM_032383.3:c.1164-2192_1164-2179dup NM_032383.3:c.1164-2179_1164-2178insTTTTTTTTTTTTTTTTTTTTTTTT NM_032383.3:c.1164-2179_1164-2178insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
HPS3 transcript variant 1 NM_032383.5:c.1164-2199= NM_032383.5:c.1164-2190_1164-2179del NM_032383.5:c.1164-2188_1164-2179del NM_032383.5:c.1164-2186_1164-2179del NM_032383.5:c.1164-2184_1164-2179del NM_032383.5:c.1164-2183_1164-2179del NM_032383.5:c.1164-2182_1164-2179del NM_032383.5:c.1164-2181_1164-2179del NM_032383.5:c.1164-2180_1164-2179del NM_032383.5:c.1164-2179del NM_032383.5:c.1164-2179dup NM_032383.5:c.1164-2180_1164-2179dup NM_032383.5:c.1164-2181_1164-2179dup NM_032383.5:c.1164-2182_1164-2179dup NM_032383.5:c.1164-2183_1164-2179dup NM_032383.5:c.1164-2184_1164-2179dup NM_032383.5:c.1164-2185_1164-2179dup NM_032383.5:c.1164-2186_1164-2179dup NM_032383.5:c.1164-2187_1164-2179dup NM_032383.5:c.1164-2189_1164-2179dup NM_032383.5:c.1164-2191_1164-2179dup NM_032383.5:c.1164-2192_1164-2179dup NM_032383.5:c.1164-2179_1164-2178insTTTTTTTTTTTTTTTTTTTTTTTT NM_032383.5:c.1164-2179_1164-2178insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
HPS3 transcript variant X1 XM_005247833.1:c.669-2199= XM_005247833.1:c.669-2190_669-2179del XM_005247833.1:c.669-2188_669-2179del XM_005247833.1:c.669-2186_669-2179del XM_005247833.1:c.669-2184_669-2179del XM_005247833.1:c.669-2183_669-2179del XM_005247833.1:c.669-2182_669-2179del XM_005247833.1:c.669-2181_669-2179del XM_005247833.1:c.669-2180_669-2179del XM_005247833.1:c.669-2179del XM_005247833.1:c.669-2179dup XM_005247833.1:c.669-2180_669-2179dup XM_005247833.1:c.669-2181_669-2179dup XM_005247833.1:c.669-2182_669-2179dup XM_005247833.1:c.669-2183_669-2179dup XM_005247833.1:c.669-2184_669-2179dup XM_005247833.1:c.669-2185_669-2179dup XM_005247833.1:c.669-2186_669-2179dup XM_005247833.1:c.669-2187_669-2179dup XM_005247833.1:c.669-2189_669-2179dup XM_005247833.1:c.669-2191_669-2179dup XM_005247833.1:c.669-2192_669-2179dup XM_005247833.1:c.669-2179_669-2178insTTTTTTTTTTTTTTTTTTTTTTTT XM_005247833.1:c.669-2179_669-2178insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
HPS3 transcript variant X2 XM_005247834.1:c.1164-2199= XM_005247834.1:c.1164-2190_1164-2179del XM_005247834.1:c.1164-2188_1164-2179del XM_005247834.1:c.1164-2186_1164-2179del XM_005247834.1:c.1164-2184_1164-2179del XM_005247834.1:c.1164-2183_1164-2179del XM_005247834.1:c.1164-2182_1164-2179del XM_005247834.1:c.1164-2181_1164-2179del XM_005247834.1:c.1164-2180_1164-2179del XM_005247834.1:c.1164-2179del XM_005247834.1:c.1164-2179dup XM_005247834.1:c.1164-2180_1164-2179dup XM_005247834.1:c.1164-2181_1164-2179dup XM_005247834.1:c.1164-2182_1164-2179dup XM_005247834.1:c.1164-2183_1164-2179dup XM_005247834.1:c.1164-2184_1164-2179dup XM_005247834.1:c.1164-2185_1164-2179dup XM_005247834.1:c.1164-2186_1164-2179dup XM_005247834.1:c.1164-2187_1164-2179dup XM_005247834.1:c.1164-2189_1164-2179dup XM_005247834.1:c.1164-2191_1164-2179dup XM_005247834.1:c.1164-2192_1164-2179dup XM_005247834.1:c.1164-2179_1164-2178insTTTTTTTTTTTTTTTTTTTTTTTT XM_005247834.1:c.1164-2179_1164-2178insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
HPS3 transcript variant X3 XM_005247834.5:c.1164-2199= XM_005247834.5:c.1164-2190_1164-2179del XM_005247834.5:c.1164-2188_1164-2179del XM_005247834.5:c.1164-2186_1164-2179del XM_005247834.5:c.1164-2184_1164-2179del XM_005247834.5:c.1164-2183_1164-2179del XM_005247834.5:c.1164-2182_1164-2179del XM_005247834.5:c.1164-2181_1164-2179del XM_005247834.5:c.1164-2180_1164-2179del XM_005247834.5:c.1164-2179del XM_005247834.5:c.1164-2179dup XM_005247834.5:c.1164-2180_1164-2179dup XM_005247834.5:c.1164-2181_1164-2179dup XM_005247834.5:c.1164-2182_1164-2179dup XM_005247834.5:c.1164-2183_1164-2179dup XM_005247834.5:c.1164-2184_1164-2179dup XM_005247834.5:c.1164-2185_1164-2179dup XM_005247834.5:c.1164-2186_1164-2179dup XM_005247834.5:c.1164-2187_1164-2179dup XM_005247834.5:c.1164-2189_1164-2179dup XM_005247834.5:c.1164-2191_1164-2179dup XM_005247834.5:c.1164-2192_1164-2179dup XM_005247834.5:c.1164-2179_1164-2178insTTTTTTTTTTTTTTTTTTTTTTTT XM_005247834.5:c.1164-2179_1164-2178insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
HPS3 transcript variant X1 XM_047449064.1:c.1164-2199= XM_047449064.1:c.1164-2190_1164-2179del XM_047449064.1:c.1164-2188_1164-2179del XM_047449064.1:c.1164-2186_1164-2179del XM_047449064.1:c.1164-2184_1164-2179del XM_047449064.1:c.1164-2183_1164-2179del XM_047449064.1:c.1164-2182_1164-2179del XM_047449064.1:c.1164-2181_1164-2179del XM_047449064.1:c.1164-2180_1164-2179del XM_047449064.1:c.1164-2179del XM_047449064.1:c.1164-2179dup XM_047449064.1:c.1164-2180_1164-2179dup XM_047449064.1:c.1164-2181_1164-2179dup XM_047449064.1:c.1164-2182_1164-2179dup XM_047449064.1:c.1164-2183_1164-2179dup XM_047449064.1:c.1164-2184_1164-2179dup XM_047449064.1:c.1164-2185_1164-2179dup XM_047449064.1:c.1164-2186_1164-2179dup XM_047449064.1:c.1164-2187_1164-2179dup XM_047449064.1:c.1164-2189_1164-2179dup XM_047449064.1:c.1164-2191_1164-2179dup XM_047449064.1:c.1164-2192_1164-2179dup XM_047449064.1:c.1164-2179_1164-2178insTTTTTTTTTTTTTTTTTTTTTTTT XM_047449064.1:c.1164-2179_1164-2178insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
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#.

64 SubSNP, 40 Frequency submissions
No Submitter Submission ID Date (Build)
1 HUMANGENOME_JCVI ss95334883 Oct 12, 2018 (152)
2 PJP ss295131853 May 31, 2013 (142)
3 SSMP ss663365743 Apr 01, 2015 (144)
4 SSIP ss947099909 Aug 21, 2014 (142)
5 EVA_UK10K_ALSPAC ss1703872041 Oct 12, 2018 (152)
6 EVA_UK10K_TWINSUK ss1703872547 Oct 12, 2018 (152)
7 EVA_UK10K_ALSPAC ss1710110855 Apr 01, 2015 (144)
8 EVA_UK10K_ALSPAC ss1710110857 Apr 01, 2015 (144)
9 EVA_UK10K_TWINSUK ss1710110910 Apr 01, 2015 (144)
10 EVA_UK10K_TWINSUK ss1710110912 Apr 01, 2015 (144)
11 SWEGEN ss2993395697 Nov 17, 2017 (151)
12 EVA_DECODE ss3710531213 Jul 13, 2019 (153)
13 EVA_DECODE ss3710531214 Jul 13, 2019 (153)
14 EVA_DECODE ss3710531215 Jul 13, 2019 (153)
15 EVA_DECODE ss3710531216 Jul 13, 2019 (153)
16 EVA_DECODE ss3710531217 Jul 13, 2019 (153)
17 EVA_DECODE ss3710531218 Jul 13, 2019 (153)
18 PACBIO ss3789985918 Jul 13, 2019 (153)
19 PACBIO ss3794860504 Jul 13, 2019 (153)
20 EVA ss3828136053 Apr 25, 2020 (154)
21 GNOMAD ss4082981293 Apr 26, 2021 (155)
22 GNOMAD ss4082981294 Apr 26, 2021 (155)
23 GNOMAD ss4082981295 Apr 26, 2021 (155)
24 GNOMAD ss4082981296 Apr 26, 2021 (155)
25 GNOMAD ss4082981297 Apr 26, 2021 (155)
26 GNOMAD ss4082981298 Apr 26, 2021 (155)
27 GNOMAD ss4082981299 Apr 26, 2021 (155)
28 GNOMAD ss4082981300 Apr 26, 2021 (155)
29 GNOMAD ss4082981301 Apr 26, 2021 (155)
30 GNOMAD ss4082981302 Apr 26, 2021 (155)
31 GNOMAD ss4082981303 Apr 26, 2021 (155)
32 GNOMAD ss4082981304 Apr 26, 2021 (155)
33 GNOMAD ss4082981305 Apr 26, 2021 (155)
34 GNOMAD ss4082981306 Apr 26, 2021 (155)
35 GNOMAD ss4082981308 Apr 26, 2021 (155)
36 GNOMAD ss4082981309 Apr 26, 2021 (155)
37 GNOMAD ss4082981310 Apr 26, 2021 (155)
38 GNOMAD ss4082981311 Apr 26, 2021 (155)
39 GNOMAD ss4082981312 Apr 26, 2021 (155)
40 GNOMAD ss4082981313 Apr 26, 2021 (155)
41 GNOMAD ss4082981314 Apr 26, 2021 (155)
42 TOPMED ss4587988615 Apr 26, 2021 (155)
43 TOMMO_GENOMICS ss5162144876 Apr 26, 2021 (155)
44 TOMMO_GENOMICS ss5162144877 Apr 26, 2021 (155)
45 TOMMO_GENOMICS ss5162144878 Apr 26, 2021 (155)
46 TOMMO_GENOMICS ss5162144879 Apr 26, 2021 (155)
47 TOMMO_GENOMICS ss5162144880 Apr 26, 2021 (155)
48 TOMMO_GENOMICS ss5162144881 Apr 26, 2021 (155)
49 1000G_HIGH_COVERAGE ss5256462314 Oct 12, 2022 (156)
50 1000G_HIGH_COVERAGE ss5256462315 Oct 12, 2022 (156)
51 1000G_HIGH_COVERAGE ss5256462316 Oct 12, 2022 (156)
52 1000G_HIGH_COVERAGE ss5256462317 Oct 12, 2022 (156)
53 1000G_HIGH_COVERAGE ss5256462318 Oct 12, 2022 (156)
54 1000G_HIGH_COVERAGE ss5256462319 Oct 12, 2022 (156)
55 HUGCELL_USP ss5455557517 Oct 12, 2022 (156)
56 HUGCELL_USP ss5455557518 Oct 12, 2022 (156)
57 HUGCELL_USP ss5455557519 Oct 12, 2022 (156)
58 HUGCELL_USP ss5455557520 Oct 12, 2022 (156)
59 HUGCELL_USP ss5455557521 Oct 12, 2022 (156)
60 TOMMO_GENOMICS ss5695185669 Oct 12, 2022 (156)
61 TOMMO_GENOMICS ss5695185670 Oct 12, 2022 (156)
62 TOMMO_GENOMICS ss5695185671 Oct 12, 2022 (156)
63 TOMMO_GENOMICS ss5695185672 Oct 12, 2022 (156)
64 TOMMO_GENOMICS ss5695185673 Oct 12, 2022 (156)
65 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 9990981 (NC_000003.11:148866186::TTT 1018/3854)
Row 9990982 (NC_000003.11:148866186:TT: 1237/3854)
Row 9990983 (NC_000003.11:148866186::TT 981/3854)

- Oct 12, 2018 (152)
66 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 9990981 (NC_000003.11:148866186::TTT 1018/3854)
Row 9990982 (NC_000003.11:148866186:TT: 1237/3854)
Row 9990983 (NC_000003.11:148866186::TT 981/3854)

- Oct 12, 2018 (152)
67 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 9990981 (NC_000003.11:148866186::TTT 1018/3854)
Row 9990982 (NC_000003.11:148866186:TT: 1237/3854)
Row 9990983 (NC_000003.11:148866186::TT 981/3854)

- Oct 12, 2018 (152)
68 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 127447227 (NC_000003.12:149148399::T 2649/92104)
Row 127447228 (NC_000003.12:149148399::TT 7962/92112)
Row 127447229 (NC_000003.12:149148399::TTT 12608/91896)...

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

Submission ignored due to conflicting rows:
Row 127447227 (NC_000003.12:149148399::T 2649/92104)
Row 127447228 (NC_000003.12:149148399::TT 7962/92112)
Row 127447229 (NC_000003.12:149148399::TTT 12608/91896)...

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

Submission ignored due to conflicting rows:
Row 127447227 (NC_000003.12:149148399::T 2649/92104)
Row 127447228 (NC_000003.12:149148399::TT 7962/92112)
Row 127447229 (NC_000003.12:149148399::TTT 12608/91896)...

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

Submission ignored due to conflicting rows:
Row 127447227 (NC_000003.12:149148399::T 2649/92104)
Row 127447228 (NC_000003.12:149148399::TT 7962/92112)
Row 127447229 (NC_000003.12:149148399::TTT 12608/91896)...

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

Submission ignored due to conflicting rows:
Row 127447227 (NC_000003.12:149148399::T 2649/92104)
Row 127447228 (NC_000003.12:149148399::TT 7962/92112)
Row 127447229 (NC_000003.12:149148399::TTT 12608/91896)...

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

Submission ignored due to conflicting rows:
Row 127447227 (NC_000003.12:149148399::T 2649/92104)
Row 127447228 (NC_000003.12:149148399::TT 7962/92112)
Row 127447229 (NC_000003.12:149148399::TTT 12608/91896)...

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

Submission ignored due to conflicting rows:
Row 127447227 (NC_000003.12:149148399::T 2649/92104)
Row 127447228 (NC_000003.12:149148399::TT 7962/92112)
Row 127447229 (NC_000003.12:149148399::TTT 12608/91896)...

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

Submission ignored due to conflicting rows:
Row 127447227 (NC_000003.12:149148399::T 2649/92104)
Row 127447228 (NC_000003.12:149148399::TT 7962/92112)
Row 127447229 (NC_000003.12:149148399::TTT 12608/91896)...

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

Submission ignored due to conflicting rows:
Row 127447227 (NC_000003.12:149148399::T 2649/92104)
Row 127447228 (NC_000003.12:149148399::TT 7962/92112)
Row 127447229 (NC_000003.12:149148399::TTT 12608/91896)...

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

Submission ignored due to conflicting rows:
Row 127447227 (NC_000003.12:149148399::T 2649/92104)
Row 127447228 (NC_000003.12:149148399::TT 7962/92112)
Row 127447229 (NC_000003.12:149148399::TTT 12608/91896)...

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

Submission ignored due to conflicting rows:
Row 127447227 (NC_000003.12:149148399::T 2649/92104)
Row 127447228 (NC_000003.12:149148399::TT 7962/92112)
Row 127447229 (NC_000003.12:149148399::TTT 12608/91896)...

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

Submission ignored due to conflicting rows:
Row 127447227 (NC_000003.12:149148399::T 2649/92104)
Row 127447228 (NC_000003.12:149148399::TT 7962/92112)
Row 127447229 (NC_000003.12:149148399::TTT 12608/91896)...

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

Submission ignored due to conflicting rows:
Row 127447227 (NC_000003.12:149148399::T 2649/92104)
Row 127447228 (NC_000003.12:149148399::TT 7962/92112)
Row 127447229 (NC_000003.12:149148399::TTT 12608/91896)...

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

Submission ignored due to conflicting rows:
Row 127447227 (NC_000003.12:149148399::T 2649/92104)
Row 127447228 (NC_000003.12:149148399::TT 7962/92112)
Row 127447229 (NC_000003.12:149148399::TTT 12608/91896)...

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

Submission ignored due to conflicting rows:
Row 127447227 (NC_000003.12:149148399::T 2649/92104)
Row 127447228 (NC_000003.12:149148399::TT 7962/92112)
Row 127447229 (NC_000003.12:149148399::TTT 12608/91896)...

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

Submission ignored due to conflicting rows:
Row 127447227 (NC_000003.12:149148399::T 2649/92104)
Row 127447228 (NC_000003.12:149148399::TT 7962/92112)
Row 127447229 (NC_000003.12:149148399::TTT 12608/91896)...

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

Submission ignored due to conflicting rows:
Row 127447227 (NC_000003.12:149148399::T 2649/92104)
Row 127447228 (NC_000003.12:149148399::TT 7962/92112)
Row 127447229 (NC_000003.12:149148399::TTT 12608/91896)...

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

Submission ignored due to conflicting rows:
Row 127447227 (NC_000003.12:149148399::T 2649/92104)
Row 127447228 (NC_000003.12:149148399::TT 7962/92112)
Row 127447229 (NC_000003.12:149148399::TTT 12608/91896)...

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

Submission ignored due to conflicting rows:
Row 127447227 (NC_000003.12:149148399::T 2649/92104)
Row 127447228 (NC_000003.12:149148399::TT 7962/92112)
Row 127447229 (NC_000003.12:149148399::TTT 12608/91896)...

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

Submission ignored due to conflicting rows:
Row 127447227 (NC_000003.12:149148399::T 2649/92104)
Row 127447228 (NC_000003.12:149148399::TT 7962/92112)
Row 127447229 (NC_000003.12:149148399::TTT 12608/91896)...

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

Submission ignored due to conflicting rows:
Row 127447227 (NC_000003.12:149148399::T 2649/92104)
Row 127447228 (NC_000003.12:149148399::TT 7962/92112)
Row 127447229 (NC_000003.12:149148399::TTT 12608/91896)...

- Apr 26, 2021 (155)
89 8.3KJPN

Submission ignored due to conflicting rows:
Row 20114183 (NC_000003.11:148866186::TTT 1674/16654)
Row 20114184 (NC_000003.11:148866186:TT: 3602/16654)
Row 20114185 (NC_000003.11:148866186:T: 26/16654)...

- Apr 26, 2021 (155)
90 8.3KJPN

Submission ignored due to conflicting rows:
Row 20114183 (NC_000003.11:148866186::TTT 1674/16654)
Row 20114184 (NC_000003.11:148866186:TT: 3602/16654)
Row 20114185 (NC_000003.11:148866186:T: 26/16654)...

- Apr 26, 2021 (155)
91 8.3KJPN

Submission ignored due to conflicting rows:
Row 20114183 (NC_000003.11:148866186::TTT 1674/16654)
Row 20114184 (NC_000003.11:148866186:TT: 3602/16654)
Row 20114185 (NC_000003.11:148866186:T: 26/16654)...

- Apr 26, 2021 (155)
92 8.3KJPN

Submission ignored due to conflicting rows:
Row 20114183 (NC_000003.11:148866186::TTT 1674/16654)
Row 20114184 (NC_000003.11:148866186:TT: 3602/16654)
Row 20114185 (NC_000003.11:148866186:T: 26/16654)...

- Apr 26, 2021 (155)
93 8.3KJPN

Submission ignored due to conflicting rows:
Row 20114183 (NC_000003.11:148866186::TTT 1674/16654)
Row 20114184 (NC_000003.11:148866186:TT: 3602/16654)
Row 20114185 (NC_000003.11:148866186:T: 26/16654)...

- Apr 26, 2021 (155)
94 8.3KJPN

Submission ignored due to conflicting rows:
Row 20114183 (NC_000003.11:148866186::TTT 1674/16654)
Row 20114184 (NC_000003.11:148866186:TT: 3602/16654)
Row 20114185 (NC_000003.11:148866186:T: 26/16654)...

- Apr 26, 2021 (155)
95 14KJPN

Submission ignored due to conflicting rows:
Row 29022773 (NC_000003.12:149148399::TTT 3136/28238)
Row 29022774 (NC_000003.12:149148399:TT: 6651/28238)
Row 29022775 (NC_000003.12:149148399:T: 37/28238)...

- Oct 12, 2022 (156)
96 14KJPN

Submission ignored due to conflicting rows:
Row 29022773 (NC_000003.12:149148399::TTT 3136/28238)
Row 29022774 (NC_000003.12:149148399:TT: 6651/28238)
Row 29022775 (NC_000003.12:149148399:T: 37/28238)...

- Oct 12, 2022 (156)
97 14KJPN

Submission ignored due to conflicting rows:
Row 29022773 (NC_000003.12:149148399::TTT 3136/28238)
Row 29022774 (NC_000003.12:149148399:TT: 6651/28238)
Row 29022775 (NC_000003.12:149148399:T: 37/28238)...

- Oct 12, 2022 (156)
98 14KJPN

Submission ignored due to conflicting rows:
Row 29022773 (NC_000003.12:149148399::TTT 3136/28238)
Row 29022774 (NC_000003.12:149148399:TT: 6651/28238)
Row 29022775 (NC_000003.12:149148399:T: 37/28238)...

- Oct 12, 2022 (156)
99 14KJPN

Submission ignored due to conflicting rows:
Row 29022773 (NC_000003.12:149148399::TTT 3136/28238)
Row 29022774 (NC_000003.12:149148399:TT: 6651/28238)
Row 29022775 (NC_000003.12:149148399:T: 37/28238)...

- Oct 12, 2022 (156)
100 TopMed NC_000003.12 - 149148400 Apr 26, 2021 (155)
101 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 9990981 (NC_000003.11:148866186::TTT 926/3708)
Row 9990982 (NC_000003.11:148866186:TT: 1205/3708)
Row 9990983 (NC_000003.11:148866186::TT 911/3708)

- Oct 12, 2018 (152)
102 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 9990981 (NC_000003.11:148866186::TTT 926/3708)
Row 9990982 (NC_000003.11:148866186:TT: 1205/3708)
Row 9990983 (NC_000003.11:148866186::TT 911/3708)

- Oct 12, 2018 (152)
103 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 9990981 (NC_000003.11:148866186::TTT 926/3708)
Row 9990982 (NC_000003.11:148866186:TT: 1205/3708)
Row 9990983 (NC_000003.11:148866186::TT 911/3708)

- Oct 12, 2018 (152)
104 ALFA NC_000003.12 - 149148400 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)
rs66720212 Feb 26, 2009 (130)
rs386398207 Aug 21, 2014 (142)
rs796579055 Nov 08, 2017 (151)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
425366170, ss4587988615 NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTT:

NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT

(self)
7283730121 NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT

NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT

(self)
7283730121 NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT

NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT

(self)
ss4082981314 NC_000003.12:149148399:TTTTTTTT: NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

(self)
7283730121 NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

(self)
ss4082981313 NC_000003.12:149148399:TTTTTT: NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
7283730121 NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss4082981312 NC_000003.12:149148399:TTTTT: NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
7283730121 NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss4082981311 NC_000003.12:149148399:TTTT: NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
7283730121 NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss3710531213, ss4082981310, ss5256462319, ss5455557521, ss5695185672 NC_000003.12:149148399:TTT: NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
7283730121 NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss1703872041, ss1703872547, ss2993395697, ss3789985918, ss3794860504, ss5162144877 NC_000003.11:148866186:TT: NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
ss4082981309, ss5256462314, ss5455557520, ss5695185670 NC_000003.12:149148399:TT: NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
7283730121 NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
ss3710531214 NC_000003.12:149148400:TT: NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
ss5162144878 NC_000003.11:148866186:T: NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss4082981308, ss5695185671 NC_000003.12:149148399:T: NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
7283730121 NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss663365743, ss5162144880 NC_000003.11:148866186::T NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
ss4082981293, ss5256462318, ss5455557517 NC_000003.12:149148399::T NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
7283730121 NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
ss3710531215 NC_000003.12:149148402::T NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
ss295131853 NC_000003.10:150348877::TT NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
ss5162144879 NC_000003.11:148866186::TT NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
ss1710110857, ss1710110912 NC_000003.11:148866188::TT NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4082981294, ss5256462315, ss5455557518 NC_000003.12:149148399::TT NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
7283730121 NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
ss3710531216 NC_000003.12:149148402::TT NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
ss95334883 NT_005612.16:55361353::TT NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
ss3828136053, ss5162144876 NC_000003.11:148866186::TTT NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss947099909, ss1710110855, ss1710110910 NC_000003.11:148866188::TTT NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4082981295, ss5256462316, ss5455557519, ss5695185669 NC_000003.12:149148399::TTT NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

(self)
7283730121 NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss3710531217 NC_000003.12:149148402::TTT NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss5162144881 NC_000003.11:148866186::TTTT NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4082981296, ss5256462317, ss5695185673 NC_000003.12:149148399::TTTT NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
7283730121 NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss3710531218 NC_000003.12:149148402::TTTT NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4082981297 NC_000003.12:149148399::TTTTT NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
7283730121 NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4082981298 NC_000003.12:149148399::TTTTTT NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4082981299 NC_000003.12:149148399::TTTTTTT NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4082981300 NC_000003.12:149148399::TTTTTTTT NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4082981301 NC_000003.12:149148399::TTTTTTTTT NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4082981302 NC_000003.12:149148399::TTTTTTTTTTT NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4082981303 NC_000003.12:149148399::TTTTTTTTTT…

NC_000003.12:149148399::TTTTTTTTTTTTT

NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4082981304 NC_000003.12:149148399::TTTTTTTTTT…

NC_000003.12:149148399::TTTTTTTTTTTTTT

NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4082981305 NC_000003.12:149148399::TTTTTTTTTT…

NC_000003.12:149148399::TTTTTTTTTTTTTTTTTTTTTTTT

NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4082981306 NC_000003.12:149148399::TTTTTTTTTT…

NC_000003.12:149148399::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss3408806666 NC_000003.12:149148399:TTTTTTTTTT: NC_000003.12:149148399:TTTTTTTTTTT…

NC_000003.12:149148399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT

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 rs66720211

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