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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.

rs34825514

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr20:50654423-50654448 (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)14 / del(T)13 / del(T)12 / d…

del(T)14 / del(T)13 / del(T)12 / del(T)11 / del(T)10 / del(T)9 / del(T)8 / del(T)7 / 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

Variation Type
Indel Insertion and Deletion
Frequency
dupT=0.1836 (1144/6230, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RIPOR3 : Intron Variant
RIPOR3-AS1 : 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 6230 TTTTTTTTTTTTTTTTTTTTTTTTTT=0.8019 TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0002, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0114, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.1836, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0027, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0002, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000 0.807515 0.177324 0.015162 32
European Sub 5022 TTTTTTTTTTTTTTTTTTTTTTTTTT=0.7551 TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0002, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0141, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.2270, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0034, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0002, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000 0.760494 0.220576 0.01893 32
African Sub 1040 TTTTTTTTTTTTTTTTTTTTTTTTTT=1.0000 TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000 1.0 0.0 0.0 N/A
African Others Sub 46 TTTTTTTTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
African American Sub 994 TTTTTTTTTTTTTTTTTTTTTTTTTT=1.000 TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
Asian Sub 10 TTTTTTTTTTTTTTTTTTTTTTTTTT=1.0 TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
East Asian Sub 8 TTTTTTTTTTTTTTTTTTTTTTTTTT=1.0 TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
Other Asian Sub 2 TTTTTTTTTTTTTTTTTTTTTTTTTT=1.0 TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
Latin American 1 Sub 28 TTTTTTTTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 38 TTTTTTTTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
South Asian Sub 2 TTTTTTTTTTTTTTTTTTTTTTTTTT=1.0 TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
Other Sub 90 TTTTTTTTTTTTTTTTTTTTTTTTTT=0.96 TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.04, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 0.955556 0.044444 0.0 24


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
Allele Frequency Aggregator Total Global 6230 (T)26=0.8019 del(T)14=0.0000, del(T)13=0.0000, del(T)12=0.0002, del(T)11=0.0000, del(T)10=0.0000, del(T)9=0.0000, del(T)8=0.0000, del(T)7=0.0000, del(T)6=0.0000, del(T)5=0.0000, del(T)4=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0114, dupT=0.1836, dupTT=0.0027, dupTTT=0.0000, dup(T)5=0.0002
Allele Frequency Aggregator European Sub 5022 (T)26=0.7551 del(T)14=0.0000, del(T)13=0.0000, del(T)12=0.0002, del(T)11=0.0000, del(T)10=0.0000, del(T)9=0.0000, del(T)8=0.0000, del(T)7=0.0000, del(T)6=0.0000, del(T)5=0.0000, del(T)4=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0141, dupT=0.2270, dupTT=0.0034, dupTTT=0.0000, dup(T)5=0.0002
Allele Frequency Aggregator African Sub 1040 (T)26=1.0000 del(T)14=0.0000, del(T)13=0.0000, del(T)12=0.0000, del(T)11=0.0000, del(T)10=0.0000, del(T)9=0.0000, del(T)8=0.0000, del(T)7=0.0000, del(T)6=0.0000, del(T)5=0.0000, del(T)4=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000, dup(T)5=0.0000
Allele Frequency Aggregator Other Sub 90 (T)26=0.96 del(T)14=0.00, del(T)13=0.00, del(T)12=0.00, del(T)11=0.00, del(T)10=0.00, del(T)9=0.00, del(T)8=0.00, del(T)7=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=0.04, dupTT=0.00, dupTTT=0.00, dup(T)5=0.00
Allele Frequency Aggregator Latin American 2 Sub 38 (T)26=1.00 del(T)14=0.00, del(T)13=0.00, del(T)12=0.00, del(T)11=0.00, del(T)10=0.00, del(T)9=0.00, del(T)8=0.00, del(T)7=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)5=0.00
Allele Frequency Aggregator Latin American 1 Sub 28 (T)26=1.00 del(T)14=0.00, del(T)13=0.00, del(T)12=0.00, del(T)11=0.00, del(T)10=0.00, del(T)9=0.00, del(T)8=0.00, del(T)7=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)5=0.00
Allele Frequency Aggregator Asian Sub 10 (T)26=1.0 del(T)14=0.0, del(T)13=0.0, del(T)12=0.0, del(T)11=0.0, del(T)10=0.0, del(T)9=0.0, del(T)8=0.0, del(T)7=0.0, del(T)6=0.0, del(T)5=0.0, del(T)4=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0, dup(T)5=0.0
Allele Frequency Aggregator South Asian Sub 2 (T)26=1.0 del(T)14=0.0, del(T)13=0.0, del(T)12=0.0, del(T)11=0.0, del(T)10=0.0, del(T)9=0.0, del(T)8=0.0, del(T)7=0.0, del(T)6=0.0, del(T)5=0.0, del(T)4=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0, dup(T)5=0.0
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 20 NC_000020.11:g.50654435_50654448del
GRCh38.p14 chr 20 NC_000020.11:g.50654436_50654448del
GRCh38.p14 chr 20 NC_000020.11:g.50654437_50654448del
GRCh38.p14 chr 20 NC_000020.11:g.50654438_50654448del
GRCh38.p14 chr 20 NC_000020.11:g.50654439_50654448del
GRCh38.p14 chr 20 NC_000020.11:g.50654440_50654448del
GRCh38.p14 chr 20 NC_000020.11:g.50654441_50654448del
GRCh38.p14 chr 20 NC_000020.11:g.50654442_50654448del
GRCh38.p14 chr 20 NC_000020.11:g.50654443_50654448del
GRCh38.p14 chr 20 NC_000020.11:g.50654444_50654448del
GRCh38.p14 chr 20 NC_000020.11:g.50654445_50654448del
GRCh38.p14 chr 20 NC_000020.11:g.50654446_50654448del
GRCh38.p14 chr 20 NC_000020.11:g.50654447_50654448del
GRCh38.p14 chr 20 NC_000020.11:g.50654448del
GRCh38.p14 chr 20 NC_000020.11:g.50654448dup
GRCh38.p14 chr 20 NC_000020.11:g.50654447_50654448dup
GRCh38.p14 chr 20 NC_000020.11:g.50654446_50654448dup
GRCh38.p14 chr 20 NC_000020.11:g.50654445_50654448dup
GRCh38.p14 chr 20 NC_000020.11:g.50654444_50654448dup
GRCh38.p14 chr 20 NC_000020.11:g.50654443_50654448dup
GRCh38.p14 chr 20 NC_000020.11:g.50654442_50654448dup
GRCh37.p13 chr 20 NC_000020.10:g.49270972_49270985del
GRCh37.p13 chr 20 NC_000020.10:g.49270973_49270985del
GRCh37.p13 chr 20 NC_000020.10:g.49270974_49270985del
GRCh37.p13 chr 20 NC_000020.10:g.49270975_49270985del
GRCh37.p13 chr 20 NC_000020.10:g.49270976_49270985del
GRCh37.p13 chr 20 NC_000020.10:g.49270977_49270985del
GRCh37.p13 chr 20 NC_000020.10:g.49270978_49270985del
GRCh37.p13 chr 20 NC_000020.10:g.49270979_49270985del
GRCh37.p13 chr 20 NC_000020.10:g.49270980_49270985del
GRCh37.p13 chr 20 NC_000020.10:g.49270981_49270985del
GRCh37.p13 chr 20 NC_000020.10:g.49270982_49270985del
GRCh37.p13 chr 20 NC_000020.10:g.49270983_49270985del
GRCh37.p13 chr 20 NC_000020.10:g.49270984_49270985del
GRCh37.p13 chr 20 NC_000020.10:g.49270985del
GRCh37.p13 chr 20 NC_000020.10:g.49270985dup
GRCh37.p13 chr 20 NC_000020.10:g.49270984_49270985dup
GRCh37.p13 chr 20 NC_000020.10:g.49270983_49270985dup
GRCh37.p13 chr 20 NC_000020.10:g.49270982_49270985dup
GRCh37.p13 chr 20 NC_000020.10:g.49270981_49270985dup
GRCh37.p13 chr 20 NC_000020.10:g.49270980_49270985dup
GRCh37.p13 chr 20 NC_000020.10:g.49270979_49270985dup
RIPOR3 RefSeqGene NG_034040.1:g.42095_42108del
RIPOR3 RefSeqGene NG_034040.1:g.42096_42108del
RIPOR3 RefSeqGene NG_034040.1:g.42097_42108del
RIPOR3 RefSeqGene NG_034040.1:g.42098_42108del
RIPOR3 RefSeqGene NG_034040.1:g.42099_42108del
RIPOR3 RefSeqGene NG_034040.1:g.42100_42108del
RIPOR3 RefSeqGene NG_034040.1:g.42101_42108del
RIPOR3 RefSeqGene NG_034040.1:g.42102_42108del
RIPOR3 RefSeqGene NG_034040.1:g.42103_42108del
RIPOR3 RefSeqGene NG_034040.1:g.42104_42108del
RIPOR3 RefSeqGene NG_034040.1:g.42105_42108del
RIPOR3 RefSeqGene NG_034040.1:g.42106_42108del
RIPOR3 RefSeqGene NG_034040.1:g.42107_42108del
RIPOR3 RefSeqGene NG_034040.1:g.42108del
RIPOR3 RefSeqGene NG_034040.1:g.42108dup
RIPOR3 RefSeqGene NG_034040.1:g.42107_42108dup
RIPOR3 RefSeqGene NG_034040.1:g.42106_42108dup
RIPOR3 RefSeqGene NG_034040.1:g.42105_42108dup
RIPOR3 RefSeqGene NG_034040.1:g.42104_42108dup
RIPOR3 RefSeqGene NG_034040.1:g.42103_42108dup
RIPOR3 RefSeqGene NG_034040.1:g.42102_42108dup
Gene: RIPOR3, RIPOR family member 3 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
RIPOR3 transcript variant 2 NM_001290268.2:c.4-23580_…

NM_001290268.2:c.4-23580_4-23567del

N/A Intron Variant
RIPOR3 transcript variant 1 NM_080829.4:c. N/A Genic Upstream Transcript Variant
RIPOR3 transcript variant 3 NR_110890.2:n. N/A Intron Variant
RIPOR3 transcript variant X4 XM_006723713.5:c.4-23580_…

XM_006723713.5:c.4-23580_4-23567del

N/A Intron Variant
RIPOR3 transcript variant X1 XM_011528579.3:c.-9-23580…

XM_011528579.3:c.-9-23580_-9-23567del

N/A Intron Variant
RIPOR3 transcript variant X8 XM_011528584.4:c.4-23580_…

XM_011528584.4:c.4-23580_4-23567del

N/A Intron Variant
RIPOR3 transcript variant X11 XM_011528586.3:c.4-23580_…

XM_011528586.3:c.4-23580_4-23567del

N/A Intron Variant
RIPOR3 transcript variant X2 XM_047439912.1:c.-9-23580…

XM_047439912.1:c.-9-23580_-9-23567del

N/A Intron Variant
RIPOR3 transcript variant X3 XM_047439913.1:c.-9-23580…

XM_047439913.1:c.-9-23580_-9-23567del

N/A Intron Variant
RIPOR3 transcript variant X6 XM_047439914.1:c.4-23580_…

XM_047439914.1:c.4-23580_4-23567del

N/A Intron Variant
RIPOR3 transcript variant X10 XM_011528585.3:c. N/A Genic Upstream Transcript Variant
RIPOR3 transcript variant X5 XM_017027681.1:c. N/A Genic Upstream Transcript Variant
RIPOR3 transcript variant X7 XR_936505.3:n. N/A Intron Variant
RIPOR3 transcript variant X9 XR_936506.4:n. N/A Intron Variant
Gene: RIPOR3-AS1, RIPOR3 antisense RNA 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
RIPOR3-AS1 transcript NR_111906.1: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)26= del(T)14 del(T)13 del(T)12 del(T)11 del(T)10 del(T)9 del(T)8 del(T)7 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
GRCh38.p14 chr 20 NC_000020.11:g.50654423_50654448= NC_000020.11:g.50654435_50654448del NC_000020.11:g.50654436_50654448del NC_000020.11:g.50654437_50654448del NC_000020.11:g.50654438_50654448del NC_000020.11:g.50654439_50654448del NC_000020.11:g.50654440_50654448del NC_000020.11:g.50654441_50654448del NC_000020.11:g.50654442_50654448del NC_000020.11:g.50654443_50654448del NC_000020.11:g.50654444_50654448del NC_000020.11:g.50654445_50654448del NC_000020.11:g.50654446_50654448del NC_000020.11:g.50654447_50654448del NC_000020.11:g.50654448del NC_000020.11:g.50654448dup NC_000020.11:g.50654447_50654448dup NC_000020.11:g.50654446_50654448dup NC_000020.11:g.50654445_50654448dup NC_000020.11:g.50654444_50654448dup NC_000020.11:g.50654443_50654448dup NC_000020.11:g.50654442_50654448dup
GRCh37.p13 chr 20 NC_000020.10:g.49270960_49270985= NC_000020.10:g.49270972_49270985del NC_000020.10:g.49270973_49270985del NC_000020.10:g.49270974_49270985del NC_000020.10:g.49270975_49270985del NC_000020.10:g.49270976_49270985del NC_000020.10:g.49270977_49270985del NC_000020.10:g.49270978_49270985del NC_000020.10:g.49270979_49270985del NC_000020.10:g.49270980_49270985del NC_000020.10:g.49270981_49270985del NC_000020.10:g.49270982_49270985del NC_000020.10:g.49270983_49270985del NC_000020.10:g.49270984_49270985del NC_000020.10:g.49270985del NC_000020.10:g.49270985dup NC_000020.10:g.49270984_49270985dup NC_000020.10:g.49270983_49270985dup NC_000020.10:g.49270982_49270985dup NC_000020.10:g.49270981_49270985dup NC_000020.10:g.49270980_49270985dup NC_000020.10:g.49270979_49270985dup
RIPOR3 RefSeqGene NG_034040.1:g.42083_42108= NG_034040.1:g.42095_42108del NG_034040.1:g.42096_42108del NG_034040.1:g.42097_42108del NG_034040.1:g.42098_42108del NG_034040.1:g.42099_42108del NG_034040.1:g.42100_42108del NG_034040.1:g.42101_42108del NG_034040.1:g.42102_42108del NG_034040.1:g.42103_42108del NG_034040.1:g.42104_42108del NG_034040.1:g.42105_42108del NG_034040.1:g.42106_42108del NG_034040.1:g.42107_42108del NG_034040.1:g.42108del NG_034040.1:g.42108dup NG_034040.1:g.42107_42108dup NG_034040.1:g.42106_42108dup NG_034040.1:g.42105_42108dup NG_034040.1:g.42104_42108dup NG_034040.1:g.42103_42108dup NG_034040.1:g.42102_42108dup
RIPOR3 transcript variant 2 NM_001290268.2:c.4-23567= NM_001290268.2:c.4-23580_4-23567del NM_001290268.2:c.4-23579_4-23567del NM_001290268.2:c.4-23578_4-23567del NM_001290268.2:c.4-23577_4-23567del NM_001290268.2:c.4-23576_4-23567del NM_001290268.2:c.4-23575_4-23567del NM_001290268.2:c.4-23574_4-23567del NM_001290268.2:c.4-23573_4-23567del NM_001290268.2:c.4-23572_4-23567del NM_001290268.2:c.4-23571_4-23567del NM_001290268.2:c.4-23570_4-23567del NM_001290268.2:c.4-23569_4-23567del NM_001290268.2:c.4-23568_4-23567del NM_001290268.2:c.4-23567del NM_001290268.2:c.4-23567dup NM_001290268.2:c.4-23568_4-23567dup NM_001290268.2:c.4-23569_4-23567dup NM_001290268.2:c.4-23570_4-23567dup NM_001290268.2:c.4-23571_4-23567dup NM_001290268.2:c.4-23572_4-23567dup NM_001290268.2:c.4-23573_4-23567dup
FAM65C transcript variant X1 XM_005260294.1:c.4-23567= XM_005260294.1:c.4-23580_4-23567del XM_005260294.1:c.4-23579_4-23567del XM_005260294.1:c.4-23578_4-23567del XM_005260294.1:c.4-23577_4-23567del XM_005260294.1:c.4-23576_4-23567del XM_005260294.1:c.4-23575_4-23567del XM_005260294.1:c.4-23574_4-23567del XM_005260294.1:c.4-23573_4-23567del XM_005260294.1:c.4-23572_4-23567del XM_005260294.1:c.4-23571_4-23567del XM_005260294.1:c.4-23570_4-23567del XM_005260294.1:c.4-23569_4-23567del XM_005260294.1:c.4-23568_4-23567del XM_005260294.1:c.4-23567del XM_005260294.1:c.4-23567dup XM_005260294.1:c.4-23568_4-23567dup XM_005260294.1:c.4-23569_4-23567dup XM_005260294.1:c.4-23570_4-23567dup XM_005260294.1:c.4-23571_4-23567dup XM_005260294.1:c.4-23572_4-23567dup XM_005260294.1:c.4-23573_4-23567dup
RIPOR3 transcript variant X4 XM_006723713.5:c.4-23567= XM_006723713.5:c.4-23580_4-23567del XM_006723713.5:c.4-23579_4-23567del XM_006723713.5:c.4-23578_4-23567del XM_006723713.5:c.4-23577_4-23567del XM_006723713.5:c.4-23576_4-23567del XM_006723713.5:c.4-23575_4-23567del XM_006723713.5:c.4-23574_4-23567del XM_006723713.5:c.4-23573_4-23567del XM_006723713.5:c.4-23572_4-23567del XM_006723713.5:c.4-23571_4-23567del XM_006723713.5:c.4-23570_4-23567del XM_006723713.5:c.4-23569_4-23567del XM_006723713.5:c.4-23568_4-23567del XM_006723713.5:c.4-23567del XM_006723713.5:c.4-23567dup XM_006723713.5:c.4-23568_4-23567dup XM_006723713.5:c.4-23569_4-23567dup XM_006723713.5:c.4-23570_4-23567dup XM_006723713.5:c.4-23571_4-23567dup XM_006723713.5:c.4-23572_4-23567dup XM_006723713.5:c.4-23573_4-23567dup
RIPOR3 transcript variant X1 XM_011528579.3:c.-9-23567= XM_011528579.3:c.-9-23580_-9-23567del XM_011528579.3:c.-9-23579_-9-23567del XM_011528579.3:c.-9-23578_-9-23567del XM_011528579.3:c.-9-23577_-9-23567del XM_011528579.3:c.-9-23576_-9-23567del XM_011528579.3:c.-9-23575_-9-23567del XM_011528579.3:c.-9-23574_-9-23567del XM_011528579.3:c.-9-23573_-9-23567del XM_011528579.3:c.-9-23572_-9-23567del XM_011528579.3:c.-9-23571_-9-23567del XM_011528579.3:c.-9-23570_-9-23567del XM_011528579.3:c.-9-23569_-9-23567del XM_011528579.3:c.-9-23568_-9-23567del XM_011528579.3:c.-9-23567del XM_011528579.3:c.-9-23567dup XM_011528579.3:c.-9-23568_-9-23567dup XM_011528579.3:c.-9-23569_-9-23567dup XM_011528579.3:c.-9-23570_-9-23567dup XM_011528579.3:c.-9-23571_-9-23567dup XM_011528579.3:c.-9-23572_-9-23567dup XM_011528579.3:c.-9-23573_-9-23567dup
RIPOR3 transcript variant X8 XM_011528584.4:c.4-23567= XM_011528584.4:c.4-23580_4-23567del XM_011528584.4:c.4-23579_4-23567del XM_011528584.4:c.4-23578_4-23567del XM_011528584.4:c.4-23577_4-23567del XM_011528584.4:c.4-23576_4-23567del XM_011528584.4:c.4-23575_4-23567del XM_011528584.4:c.4-23574_4-23567del XM_011528584.4:c.4-23573_4-23567del XM_011528584.4:c.4-23572_4-23567del XM_011528584.4:c.4-23571_4-23567del XM_011528584.4:c.4-23570_4-23567del XM_011528584.4:c.4-23569_4-23567del XM_011528584.4:c.4-23568_4-23567del XM_011528584.4:c.4-23567del XM_011528584.4:c.4-23567dup XM_011528584.4:c.4-23568_4-23567dup XM_011528584.4:c.4-23569_4-23567dup XM_011528584.4:c.4-23570_4-23567dup XM_011528584.4:c.4-23571_4-23567dup XM_011528584.4:c.4-23572_4-23567dup XM_011528584.4:c.4-23573_4-23567dup
RIPOR3 transcript variant X11 XM_011528586.3:c.4-23567= XM_011528586.3:c.4-23580_4-23567del XM_011528586.3:c.4-23579_4-23567del XM_011528586.3:c.4-23578_4-23567del XM_011528586.3:c.4-23577_4-23567del XM_011528586.3:c.4-23576_4-23567del XM_011528586.3:c.4-23575_4-23567del XM_011528586.3:c.4-23574_4-23567del XM_011528586.3:c.4-23573_4-23567del XM_011528586.3:c.4-23572_4-23567del XM_011528586.3:c.4-23571_4-23567del XM_011528586.3:c.4-23570_4-23567del XM_011528586.3:c.4-23569_4-23567del XM_011528586.3:c.4-23568_4-23567del XM_011528586.3:c.4-23567del XM_011528586.3:c.4-23567dup XM_011528586.3:c.4-23568_4-23567dup XM_011528586.3:c.4-23569_4-23567dup XM_011528586.3:c.4-23570_4-23567dup XM_011528586.3:c.4-23571_4-23567dup XM_011528586.3:c.4-23572_4-23567dup XM_011528586.3:c.4-23573_4-23567dup
RIPOR3 transcript variant X2 XM_047439912.1:c.-9-23567= XM_047439912.1:c.-9-23580_-9-23567del XM_047439912.1:c.-9-23579_-9-23567del XM_047439912.1:c.-9-23578_-9-23567del XM_047439912.1:c.-9-23577_-9-23567del XM_047439912.1:c.-9-23576_-9-23567del XM_047439912.1:c.-9-23575_-9-23567del XM_047439912.1:c.-9-23574_-9-23567del XM_047439912.1:c.-9-23573_-9-23567del XM_047439912.1:c.-9-23572_-9-23567del XM_047439912.1:c.-9-23571_-9-23567del XM_047439912.1:c.-9-23570_-9-23567del XM_047439912.1:c.-9-23569_-9-23567del XM_047439912.1:c.-9-23568_-9-23567del XM_047439912.1:c.-9-23567del XM_047439912.1:c.-9-23567dup XM_047439912.1:c.-9-23568_-9-23567dup XM_047439912.1:c.-9-23569_-9-23567dup XM_047439912.1:c.-9-23570_-9-23567dup XM_047439912.1:c.-9-23571_-9-23567dup XM_047439912.1:c.-9-23572_-9-23567dup XM_047439912.1:c.-9-23573_-9-23567dup
RIPOR3 transcript variant X3 XM_047439913.1:c.-9-23567= XM_047439913.1:c.-9-23580_-9-23567del XM_047439913.1:c.-9-23579_-9-23567del XM_047439913.1:c.-9-23578_-9-23567del XM_047439913.1:c.-9-23577_-9-23567del XM_047439913.1:c.-9-23576_-9-23567del XM_047439913.1:c.-9-23575_-9-23567del XM_047439913.1:c.-9-23574_-9-23567del XM_047439913.1:c.-9-23573_-9-23567del XM_047439913.1:c.-9-23572_-9-23567del XM_047439913.1:c.-9-23571_-9-23567del XM_047439913.1:c.-9-23570_-9-23567del XM_047439913.1:c.-9-23569_-9-23567del XM_047439913.1:c.-9-23568_-9-23567del XM_047439913.1:c.-9-23567del XM_047439913.1:c.-9-23567dup XM_047439913.1:c.-9-23568_-9-23567dup XM_047439913.1:c.-9-23569_-9-23567dup XM_047439913.1:c.-9-23570_-9-23567dup XM_047439913.1:c.-9-23571_-9-23567dup XM_047439913.1:c.-9-23572_-9-23567dup XM_047439913.1:c.-9-23573_-9-23567dup
RIPOR3 transcript variant X6 XM_047439914.1:c.4-23567= XM_047439914.1:c.4-23580_4-23567del XM_047439914.1:c.4-23579_4-23567del XM_047439914.1:c.4-23578_4-23567del XM_047439914.1:c.4-23577_4-23567del XM_047439914.1:c.4-23576_4-23567del XM_047439914.1:c.4-23575_4-23567del XM_047439914.1:c.4-23574_4-23567del XM_047439914.1:c.4-23573_4-23567del XM_047439914.1:c.4-23572_4-23567del XM_047439914.1:c.4-23571_4-23567del XM_047439914.1:c.4-23570_4-23567del XM_047439914.1:c.4-23569_4-23567del XM_047439914.1:c.4-23568_4-23567del XM_047439914.1:c.4-23567del XM_047439914.1:c.4-23567dup XM_047439914.1:c.4-23568_4-23567dup XM_047439914.1:c.4-23569_4-23567dup XM_047439914.1:c.4-23570_4-23567dup XM_047439914.1:c.4-23571_4-23567dup XM_047439914.1:c.4-23572_4-23567dup XM_047439914.1:c.4-23573_4-23567dup
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#.

36 SubSNP, 28 Frequency submissions
No Submitter Submission ID Date (Build)
1 ABI ss41398751 Dec 03, 2013 (138)
2 HUMANGENOME_JCVI ss95742398 Feb 13, 2009 (130)
3 HUMANGENOME_JCVI ss96246410 Mar 15, 2016 (147)
4 PJP ss295052402 May 09, 2011 (137)
5 SWEGEN ss3018309480 Nov 08, 2017 (151)
6 EVA ss3835710745 Apr 27, 2020 (154)
7 GNOMAD ss4354760763 Apr 27, 2021 (155)
8 GNOMAD ss4354760764 Apr 27, 2021 (155)
9 GNOMAD ss4354760765 Apr 27, 2021 (155)
10 GNOMAD ss4354760766 Apr 27, 2021 (155)
11 GNOMAD ss4354760767 Apr 27, 2021 (155)
12 GNOMAD ss4354760768 Apr 27, 2021 (155)
13 GNOMAD ss4354760769 Apr 27, 2021 (155)
14 GNOMAD ss4354760770 Apr 27, 2021 (155)
15 GNOMAD ss4354760771 Apr 27, 2021 (155)
16 GNOMAD ss4354760772 Apr 27, 2021 (155)
17 GNOMAD ss4354760773 Apr 27, 2021 (155)
18 GNOMAD ss4354760774 Apr 27, 2021 (155)
19 GNOMAD ss4354760775 Apr 27, 2021 (155)
20 GNOMAD ss4354760776 Apr 27, 2021 (155)
21 GNOMAD ss4354760777 Apr 27, 2021 (155)
22 GNOMAD ss4354760778 Apr 27, 2021 (155)
23 GNOMAD ss4354760779 Apr 27, 2021 (155)
24 GNOMAD ss4354760780 Apr 27, 2021 (155)
25 TOMMO_GENOMICS ss5230012315 Apr 27, 2021 (155)
26 TOMMO_GENOMICS ss5230012316 Apr 27, 2021 (155)
27 TOMMO_GENOMICS ss5230012317 Apr 27, 2021 (155)
28 TOMMO_GENOMICS ss5230012318 Apr 27, 2021 (155)
29 1000G_HIGH_COVERAGE ss5309077485 Oct 13, 2022 (156)
30 HUGCELL_USP ss5501328744 Oct 13, 2022 (156)
31 HUGCELL_USP ss5501328745 Oct 13, 2022 (156)
32 HUGCELL_USP ss5501328746 Oct 13, 2022 (156)
33 TOMMO_GENOMICS ss5789928314 Oct 13, 2022 (156)
34 TOMMO_GENOMICS ss5789928315 Oct 13, 2022 (156)
35 TOMMO_GENOMICS ss5789928316 Oct 13, 2022 (156)
36 TOMMO_GENOMICS ss5789928318 Oct 13, 2022 (156)
37 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 554131208 (NC_000020.11:50654422::T 29000/53658)
Row 554131209 (NC_000020.11:50654422::TT 559/53652)
Row 554131210 (NC_000020.11:50654422::TTT 37/53644)...

- Apr 27, 2021 (155)
38 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 554131208 (NC_000020.11:50654422::T 29000/53658)
Row 554131209 (NC_000020.11:50654422::TT 559/53652)
Row 554131210 (NC_000020.11:50654422::TTT 37/53644)...

- Apr 27, 2021 (155)
39 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 554131208 (NC_000020.11:50654422::T 29000/53658)
Row 554131209 (NC_000020.11:50654422::TT 559/53652)
Row 554131210 (NC_000020.11:50654422::TTT 37/53644)...

- Apr 27, 2021 (155)
40 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 554131208 (NC_000020.11:50654422::T 29000/53658)
Row 554131209 (NC_000020.11:50654422::TT 559/53652)
Row 554131210 (NC_000020.11:50654422::TTT 37/53644)...

- Apr 27, 2021 (155)
41 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 554131208 (NC_000020.11:50654422::T 29000/53658)
Row 554131209 (NC_000020.11:50654422::TT 559/53652)
Row 554131210 (NC_000020.11:50654422::TTT 37/53644)...

- Apr 27, 2021 (155)
42 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 554131208 (NC_000020.11:50654422::T 29000/53658)
Row 554131209 (NC_000020.11:50654422::TT 559/53652)
Row 554131210 (NC_000020.11:50654422::TTT 37/53644)...

- Apr 27, 2021 (155)
43 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 554131208 (NC_000020.11:50654422::T 29000/53658)
Row 554131209 (NC_000020.11:50654422::TT 559/53652)
Row 554131210 (NC_000020.11:50654422::TTT 37/53644)...

- Apr 27, 2021 (155)
44 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 554131208 (NC_000020.11:50654422::T 29000/53658)
Row 554131209 (NC_000020.11:50654422::TT 559/53652)
Row 554131210 (NC_000020.11:50654422::TTT 37/53644)...

- Apr 27, 2021 (155)
45 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 554131208 (NC_000020.11:50654422::T 29000/53658)
Row 554131209 (NC_000020.11:50654422::TT 559/53652)
Row 554131210 (NC_000020.11:50654422::TTT 37/53644)...

- Apr 27, 2021 (155)
46 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 554131208 (NC_000020.11:50654422::T 29000/53658)
Row 554131209 (NC_000020.11:50654422::TT 559/53652)
Row 554131210 (NC_000020.11:50654422::TTT 37/53644)...

- Apr 27, 2021 (155)
47 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 554131208 (NC_000020.11:50654422::T 29000/53658)
Row 554131209 (NC_000020.11:50654422::TT 559/53652)
Row 554131210 (NC_000020.11:50654422::TTT 37/53644)...

- Apr 27, 2021 (155)
48 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 554131208 (NC_000020.11:50654422::T 29000/53658)
Row 554131209 (NC_000020.11:50654422::TT 559/53652)
Row 554131210 (NC_000020.11:50654422::TTT 37/53644)...

- Apr 27, 2021 (155)
49 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 554131208 (NC_000020.11:50654422::T 29000/53658)
Row 554131209 (NC_000020.11:50654422::TT 559/53652)
Row 554131210 (NC_000020.11:50654422::TTT 37/53644)...

- Apr 27, 2021 (155)
50 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 554131208 (NC_000020.11:50654422::T 29000/53658)
Row 554131209 (NC_000020.11:50654422::TT 559/53652)
Row 554131210 (NC_000020.11:50654422::TTT 37/53644)...

- Apr 27, 2021 (155)
51 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 554131208 (NC_000020.11:50654422::T 29000/53658)
Row 554131209 (NC_000020.11:50654422::TT 559/53652)
Row 554131210 (NC_000020.11:50654422::TTT 37/53644)...

- Apr 27, 2021 (155)
52 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 554131208 (NC_000020.11:50654422::T 29000/53658)
Row 554131209 (NC_000020.11:50654422::TT 559/53652)
Row 554131210 (NC_000020.11:50654422::TTT 37/53644)...

- Apr 27, 2021 (155)
53 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 554131208 (NC_000020.11:50654422::T 29000/53658)
Row 554131209 (NC_000020.11:50654422::TT 559/53652)
Row 554131210 (NC_000020.11:50654422::TTT 37/53644)...

- Apr 27, 2021 (155)
54 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 554131208 (NC_000020.11:50654422::T 29000/53658)
Row 554131209 (NC_000020.11:50654422::TT 559/53652)
Row 554131210 (NC_000020.11:50654422::TTT 37/53644)...

- Apr 27, 2021 (155)
55 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 554131208 (NC_000020.11:50654422::T 29000/53658)
Row 554131209 (NC_000020.11:50654422::TT 559/53652)
Row 554131210 (NC_000020.11:50654422::TTT 37/53644)...

- Apr 27, 2021 (155)
56 8.3KJPN

Submission ignored due to conflicting rows:
Row 87981622 (NC_000020.10:49270959::T 2089/15752)
Row 87981623 (NC_000020.10:49270959:T: 971/15752)
Row 87981624 (NC_000020.10:49270959::TT 79/15752)...

- Apr 27, 2021 (155)
57 8.3KJPN

Submission ignored due to conflicting rows:
Row 87981622 (NC_000020.10:49270959::T 2089/15752)
Row 87981623 (NC_000020.10:49270959:T: 971/15752)
Row 87981624 (NC_000020.10:49270959::TT 79/15752)...

- Apr 27, 2021 (155)
58 8.3KJPN

Submission ignored due to conflicting rows:
Row 87981622 (NC_000020.10:49270959::T 2089/15752)
Row 87981623 (NC_000020.10:49270959:T: 971/15752)
Row 87981624 (NC_000020.10:49270959::TT 79/15752)...

- Apr 27, 2021 (155)
59 8.3KJPN

Submission ignored due to conflicting rows:
Row 87981622 (NC_000020.10:49270959::T 2089/15752)
Row 87981623 (NC_000020.10:49270959:T: 971/15752)
Row 87981624 (NC_000020.10:49270959::TT 79/15752)...

- Apr 27, 2021 (155)
60 14KJPN

Submission ignored due to conflicting rows:
Row 123765418 (NC_000020.11:50654422::T 4268/24876)
Row 123765419 (NC_000020.11:50654422:T: 1956/24876)
Row 123765420 (NC_000020.11:50654422::TT 162/24876)...

- Oct 13, 2022 (156)
61 14KJPN

Submission ignored due to conflicting rows:
Row 123765418 (NC_000020.11:50654422::T 4268/24876)
Row 123765419 (NC_000020.11:50654422:T: 1956/24876)
Row 123765420 (NC_000020.11:50654422::TT 162/24876)...

- Oct 13, 2022 (156)
62 14KJPN

Submission ignored due to conflicting rows:
Row 123765418 (NC_000020.11:50654422::T 4268/24876)
Row 123765419 (NC_000020.11:50654422:T: 1956/24876)
Row 123765420 (NC_000020.11:50654422::TT 162/24876)...

- Oct 13, 2022 (156)
63 14KJPN

Submission ignored due to conflicting rows:
Row 123765418 (NC_000020.11:50654422::T 4268/24876)
Row 123765419 (NC_000020.11:50654422:T: 1956/24876)
Row 123765420 (NC_000020.11:50654422::TT 162/24876)...

- Oct 13, 2022 (156)
64 ALFA NC_000020.11 - 50654423 Apr 27, 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)
rs74175512 May 11, 2012 (137)
rs143664245 May 11, 2012 (137)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
12818383737 NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT

NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT

(self)
ss4354760780 NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTT:

NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

(self)
12818383737 NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

(self)
ss4354760779 NC_000020.11:50654422:TTTTTTTTTTTT: NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
12818383737 NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
ss4354760778 NC_000020.11:50654422:TTTTTTTTTTT: NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
12818383737 NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
12818383737 NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss4354760777 NC_000020.11:50654422:TTTTTTTTT: NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
12818383737 NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss4354760776 NC_000020.11:50654422:TTTTTTTT: NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
12818383737 NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss4354760775 NC_000020.11:50654422:TTTTTTT: NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
12818383737 NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
ss4354760774 NC_000020.11:50654422:TTTTTT: NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
12818383737 NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss5230012318 NC_000020.10:49270959:TTTTT: NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss4354760773 NC_000020.11:50654422:TTTTT: NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
12818383737 NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss4354760772, ss5309077485, ss5501328746 NC_000020.11:50654422:TTTT: NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
12818383737 NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
ss4354760771 NC_000020.11:50654422:TTT: NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
12818383737 NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4354760770 NC_000020.11:50654422:TT: NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

(self)
12818383737 NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss3018309480, ss5230012316 NC_000020.10:49270959:T: NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss5501328745, ss5789928315 NC_000020.11:50654422:T: NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
12818383737 NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss96246410 NT_011362.10:19467051:T: NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss95742398 NT_011362.10:19467076:T: NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss295052402 NC_000020.9:48704367::T NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss3835710745, ss5230012315 NC_000020.10:49270959::T NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4354760763, ss5501328744, ss5789928314 NC_000020.11:50654422::T NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
12818383737 NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss96246410 NT_011362.10:19467051:T:TT NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss41398751 NT_011362.10:19467077::T NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss5230012317 NC_000020.10:49270959::TT NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4354760764, ss5789928316 NC_000020.11:50654422::TT NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
12818383737 NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4354760765, ss5789928318 NC_000020.11:50654422::TTT NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
12818383737 NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4354760766 NC_000020.11:50654422::TTTT NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4354760767 NC_000020.11:50654422::TTTTT NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
12818383737 NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4354760768 NC_000020.11:50654422::TTTTTT NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4354760769 NC_000020.11:50654422::TTTTTTT NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss3362493373 NC_000020.11:50654422:TTTTTTTTTT: NC_000020.11:50654422:TTTTTTTTTTTT…

NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

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 rs34825514

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