Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

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

Https

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

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs11296444

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr16:67290168-67290195 (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)17 / del(T)16 / del(T)15 / d…

del(T)17 / del(T)16 / del(T)15 / 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 / dup(T)8 / dup(T)9 / dup(T)11 / dup(T)12 / dup(T)13 / dup(T)17 / ins(T)38 / ins(T)40

Variation Type
Indel Insertion and Deletion
Frequency
delT=0.0769 (629/8179, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
KCTD19 : 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 8179 TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.9211 TTTTTTTTTTT=0.0000, 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, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0769, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0009, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0002, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0007, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0001, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000 0.851971 0.004711 0.143318 1
European Sub 7501 TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.9140 TTTTTTTTTTT=0.0000, 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, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0839, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0009, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0003, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0008, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0001, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000 0.838387 0.005143 0.15647 1
African Sub 508 TTTTTTTTTTTTTTTTTTTTTTTTTTTT=1.000 TTTTTTTTTTT=0.000, 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, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
African Others Sub 32 TTTTTTTTTTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTTT=0.00, 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, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
African American Sub 476 TTTTTTTTTTTTTTTTTTTTTTTTTTTT=1.000 TTTTTTTTTTT=0.000, 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, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
Asian Sub 4 TTTTTTTTTTTTTTTTTTTTTTTTTTTT=1.0 TTTTTTTTTTT=0.0, 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, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
East Asian Sub 2 TTTTTTTTTTTTTTTTTTTTTTTTTTTT=1.0 TTTTTTTTTTT=0.0, 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, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
Other Asian Sub 2 TTTTTTTTTTTTTTTTTTTTTTTTTTTT=1.0 TTTTTTTTTTT=0.0, 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, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
Latin American 1 Sub 24 TTTTTTTTTTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTTT=0.00, 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, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 36 TTTTTTTTTTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTTT=0.00, 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, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
South Asian Sub 10 TTTTTTTTTTTTTTTTTTTTTTTTTTTT=1.0 TTTTTTTTTTT=0.0, 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, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
Other Sub 96 TTTTTTTTTTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTTT=0.00, 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, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A


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 8179 (T)28=0.9211 del(T)17=0.0000, del(T)16=0.0000, del(T)15=0.0000, 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)5=0.0000, del(T)4=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0769, dupT=0.0009, dupTT=0.0000, dup(T)7=0.0007, dup(T)12=0.0001, ins(T)38=0.0002
Allele Frequency Aggregator European Sub 7501 (T)28=0.9140 del(T)17=0.0000, del(T)16=0.0000, del(T)15=0.0000, 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)5=0.0000, del(T)4=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0839, dupT=0.0009, dupTT=0.0000, dup(T)7=0.0008, dup(T)12=0.0001, ins(T)38=0.0003
Allele Frequency Aggregator African Sub 508 (T)28=1.000 del(T)17=0.000, del(T)16=0.000, del(T)15=0.000, del(T)14=0.000, del(T)13=0.000, del(T)12=0.000, del(T)11=0.000, del(T)10=0.000, del(T)9=0.000, del(T)8=0.000, del(T)7=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, dup(T)7=0.000, dup(T)12=0.000, ins(T)38=0.000
Allele Frequency Aggregator Other Sub 96 (T)28=1.00 del(T)17=0.00, del(T)16=0.00, del(T)15=0.00, 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)5=0.00, del(T)4=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dup(T)7=0.00, dup(T)12=0.00, ins(T)38=0.00
Allele Frequency Aggregator Latin American 2 Sub 36 (T)28=1.00 del(T)17=0.00, del(T)16=0.00, del(T)15=0.00, 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)5=0.00, del(T)4=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dup(T)7=0.00, dup(T)12=0.00, ins(T)38=0.00
Allele Frequency Aggregator Latin American 1 Sub 24 (T)28=1.00 del(T)17=0.00, del(T)16=0.00, del(T)15=0.00, 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)5=0.00, del(T)4=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dup(T)7=0.00, dup(T)12=0.00, ins(T)38=0.00
Allele Frequency Aggregator South Asian Sub 10 (T)28=1.0 del(T)17=0.0, del(T)16=0.0, del(T)15=0.0, 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)5=0.0, del(T)4=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dup(T)7=0.0, dup(T)12=0.0, ins(T)38=0.0
Allele Frequency Aggregator Asian Sub 4 (T)28=1.0 del(T)17=0.0, del(T)16=0.0, del(T)15=0.0, 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)5=0.0, del(T)4=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dup(T)7=0.0, dup(T)12=0.0, ins(T)38=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 16 NC_000016.10:g.67290179_67290195del
GRCh38.p14 chr 16 NC_000016.10:g.67290180_67290195del
GRCh38.p14 chr 16 NC_000016.10:g.67290181_67290195del
GRCh38.p14 chr 16 NC_000016.10:g.67290182_67290195del
GRCh38.p14 chr 16 NC_000016.10:g.67290183_67290195del
GRCh38.p14 chr 16 NC_000016.10:g.67290184_67290195del
GRCh38.p14 chr 16 NC_000016.10:g.67290185_67290195del
GRCh38.p14 chr 16 NC_000016.10:g.67290186_67290195del
GRCh38.p14 chr 16 NC_000016.10:g.67290187_67290195del
GRCh38.p14 chr 16 NC_000016.10:g.67290188_67290195del
GRCh38.p14 chr 16 NC_000016.10:g.67290189_67290195del
GRCh38.p14 chr 16 NC_000016.10:g.67290190_67290195del
GRCh38.p14 chr 16 NC_000016.10:g.67290191_67290195del
GRCh38.p14 chr 16 NC_000016.10:g.67290192_67290195del
GRCh38.p14 chr 16 NC_000016.10:g.67290193_67290195del
GRCh38.p14 chr 16 NC_000016.10:g.67290194_67290195del
GRCh38.p14 chr 16 NC_000016.10:g.67290195del
GRCh38.p14 chr 16 NC_000016.10:g.67290195dup
GRCh38.p14 chr 16 NC_000016.10:g.67290194_67290195dup
GRCh38.p14 chr 16 NC_000016.10:g.67290193_67290195dup
GRCh38.p14 chr 16 NC_000016.10:g.67290192_67290195dup
GRCh38.p14 chr 16 NC_000016.10:g.67290191_67290195dup
GRCh38.p14 chr 16 NC_000016.10:g.67290190_67290195dup
GRCh38.p14 chr 16 NC_000016.10:g.67290189_67290195dup
GRCh38.p14 chr 16 NC_000016.10:g.67290188_67290195dup
GRCh38.p14 chr 16 NC_000016.10:g.67290187_67290195dup
GRCh38.p14 chr 16 NC_000016.10:g.67290185_67290195dup
GRCh38.p14 chr 16 NC_000016.10:g.67290184_67290195dup
GRCh38.p14 chr 16 NC_000016.10:g.67290183_67290195dup
GRCh38.p14 chr 16 NC_000016.10:g.67290179_67290195dup
GRCh38.p14 chr 16 NC_000016.10:g.67290195_67290196insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 16 NC_000016.10:g.67290195_67290196insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 16 NC_000016.9:g.67324082_67324098del
GRCh37.p13 chr 16 NC_000016.9:g.67324083_67324098del
GRCh37.p13 chr 16 NC_000016.9:g.67324084_67324098del
GRCh37.p13 chr 16 NC_000016.9:g.67324085_67324098del
GRCh37.p13 chr 16 NC_000016.9:g.67324086_67324098del
GRCh37.p13 chr 16 NC_000016.9:g.67324087_67324098del
GRCh37.p13 chr 16 NC_000016.9:g.67324088_67324098del
GRCh37.p13 chr 16 NC_000016.9:g.67324089_67324098del
GRCh37.p13 chr 16 NC_000016.9:g.67324090_67324098del
GRCh37.p13 chr 16 NC_000016.9:g.67324091_67324098del
GRCh37.p13 chr 16 NC_000016.9:g.67324092_67324098del
GRCh37.p13 chr 16 NC_000016.9:g.67324093_67324098del
GRCh37.p13 chr 16 NC_000016.9:g.67324094_67324098del
GRCh37.p13 chr 16 NC_000016.9:g.67324095_67324098del
GRCh37.p13 chr 16 NC_000016.9:g.67324096_67324098del
GRCh37.p13 chr 16 NC_000016.9:g.67324097_67324098del
GRCh37.p13 chr 16 NC_000016.9:g.67324098del
GRCh37.p13 chr 16 NC_000016.9:g.67324098dup
GRCh37.p13 chr 16 NC_000016.9:g.67324097_67324098dup
GRCh37.p13 chr 16 NC_000016.9:g.67324096_67324098dup
GRCh37.p13 chr 16 NC_000016.9:g.67324095_67324098dup
GRCh37.p13 chr 16 NC_000016.9:g.67324094_67324098dup
GRCh37.p13 chr 16 NC_000016.9:g.67324093_67324098dup
GRCh37.p13 chr 16 NC_000016.9:g.67324092_67324098dup
GRCh37.p13 chr 16 NC_000016.9:g.67324091_67324098dup
GRCh37.p13 chr 16 NC_000016.9:g.67324090_67324098dup
GRCh37.p13 chr 16 NC_000016.9:g.67324088_67324098dup
GRCh37.p13 chr 16 NC_000016.9:g.67324087_67324098dup
GRCh37.p13 chr 16 NC_000016.9:g.67324086_67324098dup
GRCh37.p13 chr 16 NC_000016.9:g.67324082_67324098dup
GRCh37.p13 chr 16 NC_000016.9:g.67324098_67324099insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 16 NC_000016.9:g.67324098_67324099insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
PLEKHG4 RefSeqGene NG_008439.2:g.17670_17686del
PLEKHG4 RefSeqGene NG_008439.2:g.17671_17686del
PLEKHG4 RefSeqGene NG_008439.2:g.17672_17686del
PLEKHG4 RefSeqGene NG_008439.2:g.17673_17686del
PLEKHG4 RefSeqGene NG_008439.2:g.17674_17686del
PLEKHG4 RefSeqGene NG_008439.2:g.17675_17686del
PLEKHG4 RefSeqGene NG_008439.2:g.17676_17686del
PLEKHG4 RefSeqGene NG_008439.2:g.17677_17686del
PLEKHG4 RefSeqGene NG_008439.2:g.17678_17686del
PLEKHG4 RefSeqGene NG_008439.2:g.17679_17686del
PLEKHG4 RefSeqGene NG_008439.2:g.17680_17686del
PLEKHG4 RefSeqGene NG_008439.2:g.17681_17686del
PLEKHG4 RefSeqGene NG_008439.2:g.17682_17686del
PLEKHG4 RefSeqGene NG_008439.2:g.17683_17686del
PLEKHG4 RefSeqGene NG_008439.2:g.17684_17686del
PLEKHG4 RefSeqGene NG_008439.2:g.17685_17686del
PLEKHG4 RefSeqGene NG_008439.2:g.17686del
PLEKHG4 RefSeqGene NG_008439.2:g.17686dup
PLEKHG4 RefSeqGene NG_008439.2:g.17685_17686dup
PLEKHG4 RefSeqGene NG_008439.2:g.17684_17686dup
PLEKHG4 RefSeqGene NG_008439.2:g.17683_17686dup
PLEKHG4 RefSeqGene NG_008439.2:g.17682_17686dup
PLEKHG4 RefSeqGene NG_008439.2:g.17681_17686dup
PLEKHG4 RefSeqGene NG_008439.2:g.17680_17686dup
PLEKHG4 RefSeqGene NG_008439.2:g.17679_17686dup
PLEKHG4 RefSeqGene NG_008439.2:g.17678_17686dup
PLEKHG4 RefSeqGene NG_008439.2:g.17676_17686dup
PLEKHG4 RefSeqGene NG_008439.2:g.17675_17686dup
PLEKHG4 RefSeqGene NG_008439.2:g.17674_17686dup
PLEKHG4 RefSeqGene NG_008439.2:g.17670_17686dup
PLEKHG4 RefSeqGene NG_008439.2:g.17686_17687insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
PLEKHG4 RefSeqGene NG_008439.2:g.17686_17687insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
KCTD19 RefSeqGene NG_053040.1:g.41575_41591del
KCTD19 RefSeqGene NG_053040.1:g.41576_41591del
KCTD19 RefSeqGene NG_053040.1:g.41577_41591del
KCTD19 RefSeqGene NG_053040.1:g.41578_41591del
KCTD19 RefSeqGene NG_053040.1:g.41579_41591del
KCTD19 RefSeqGene NG_053040.1:g.41580_41591del
KCTD19 RefSeqGene NG_053040.1:g.41581_41591del
KCTD19 RefSeqGene NG_053040.1:g.41582_41591del
KCTD19 RefSeqGene NG_053040.1:g.41583_41591del
KCTD19 RefSeqGene NG_053040.1:g.41584_41591del
KCTD19 RefSeqGene NG_053040.1:g.41585_41591del
KCTD19 RefSeqGene NG_053040.1:g.41586_41591del
KCTD19 RefSeqGene NG_053040.1:g.41587_41591del
KCTD19 RefSeqGene NG_053040.1:g.41588_41591del
KCTD19 RefSeqGene NG_053040.1:g.41589_41591del
KCTD19 RefSeqGene NG_053040.1:g.41590_41591del
KCTD19 RefSeqGene NG_053040.1:g.41591del
KCTD19 RefSeqGene NG_053040.1:g.41591dup
KCTD19 RefSeqGene NG_053040.1:g.41590_41591dup
KCTD19 RefSeqGene NG_053040.1:g.41589_41591dup
KCTD19 RefSeqGene NG_053040.1:g.41588_41591dup
KCTD19 RefSeqGene NG_053040.1:g.41587_41591dup
KCTD19 RefSeqGene NG_053040.1:g.41586_41591dup
KCTD19 RefSeqGene NG_053040.1:g.41585_41591dup
KCTD19 RefSeqGene NG_053040.1:g.41584_41591dup
KCTD19 RefSeqGene NG_053040.1:g.41583_41591dup
KCTD19 RefSeqGene NG_053040.1:g.41581_41591dup
KCTD19 RefSeqGene NG_053040.1:g.41580_41591dup
KCTD19 RefSeqGene NG_053040.1:g.41579_41591dup
KCTD19 RefSeqGene NG_053040.1:g.41575_41591dup
KCTD19 RefSeqGene NG_053040.1:g.41591_41592insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
KCTD19 RefSeqGene NG_053040.1:g.41591_41592insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene: KCTD19, potassium channel tetramerization domain containing 19 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
KCTD19 transcript NM_001100915.3:c.2668-502…

NM_001100915.3:c.2668-502_2668-486del

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)28= del(T)17 del(T)16 del(T)15 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 dup(T)8 dup(T)9 dup(T)11 dup(T)12 dup(T)13 dup(T)17 ins(T)38 ins(T)40
GRCh38.p14 chr 16 NC_000016.10:g.67290168_67290195= NC_000016.10:g.67290179_67290195del NC_000016.10:g.67290180_67290195del NC_000016.10:g.67290181_67290195del NC_000016.10:g.67290182_67290195del NC_000016.10:g.67290183_67290195del NC_000016.10:g.67290184_67290195del NC_000016.10:g.67290185_67290195del NC_000016.10:g.67290186_67290195del NC_000016.10:g.67290187_67290195del NC_000016.10:g.67290188_67290195del NC_000016.10:g.67290189_67290195del NC_000016.10:g.67290190_67290195del NC_000016.10:g.67290191_67290195del NC_000016.10:g.67290192_67290195del NC_000016.10:g.67290193_67290195del NC_000016.10:g.67290194_67290195del NC_000016.10:g.67290195del NC_000016.10:g.67290195dup NC_000016.10:g.67290194_67290195dup NC_000016.10:g.67290193_67290195dup NC_000016.10:g.67290192_67290195dup NC_000016.10:g.67290191_67290195dup NC_000016.10:g.67290190_67290195dup NC_000016.10:g.67290189_67290195dup NC_000016.10:g.67290188_67290195dup NC_000016.10:g.67290187_67290195dup NC_000016.10:g.67290185_67290195dup NC_000016.10:g.67290184_67290195dup NC_000016.10:g.67290183_67290195dup NC_000016.10:g.67290179_67290195dup NC_000016.10:g.67290195_67290196insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NC_000016.10:g.67290195_67290196insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 16 NC_000016.9:g.67324071_67324098= NC_000016.9:g.67324082_67324098del NC_000016.9:g.67324083_67324098del NC_000016.9:g.67324084_67324098del NC_000016.9:g.67324085_67324098del NC_000016.9:g.67324086_67324098del NC_000016.9:g.67324087_67324098del NC_000016.9:g.67324088_67324098del NC_000016.9:g.67324089_67324098del NC_000016.9:g.67324090_67324098del NC_000016.9:g.67324091_67324098del NC_000016.9:g.67324092_67324098del NC_000016.9:g.67324093_67324098del NC_000016.9:g.67324094_67324098del NC_000016.9:g.67324095_67324098del NC_000016.9:g.67324096_67324098del NC_000016.9:g.67324097_67324098del NC_000016.9:g.67324098del NC_000016.9:g.67324098dup NC_000016.9:g.67324097_67324098dup NC_000016.9:g.67324096_67324098dup NC_000016.9:g.67324095_67324098dup NC_000016.9:g.67324094_67324098dup NC_000016.9:g.67324093_67324098dup NC_000016.9:g.67324092_67324098dup NC_000016.9:g.67324091_67324098dup NC_000016.9:g.67324090_67324098dup NC_000016.9:g.67324088_67324098dup NC_000016.9:g.67324087_67324098dup NC_000016.9:g.67324086_67324098dup NC_000016.9:g.67324082_67324098dup NC_000016.9:g.67324098_67324099insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NC_000016.9:g.67324098_67324099insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
PLEKHG4 RefSeqGene NG_008439.2:g.17659_17686= NG_008439.2:g.17670_17686del NG_008439.2:g.17671_17686del NG_008439.2:g.17672_17686del NG_008439.2:g.17673_17686del NG_008439.2:g.17674_17686del NG_008439.2:g.17675_17686del NG_008439.2:g.17676_17686del NG_008439.2:g.17677_17686del NG_008439.2:g.17678_17686del NG_008439.2:g.17679_17686del NG_008439.2:g.17680_17686del NG_008439.2:g.17681_17686del NG_008439.2:g.17682_17686del NG_008439.2:g.17683_17686del NG_008439.2:g.17684_17686del NG_008439.2:g.17685_17686del NG_008439.2:g.17686del NG_008439.2:g.17686dup NG_008439.2:g.17685_17686dup NG_008439.2:g.17684_17686dup NG_008439.2:g.17683_17686dup NG_008439.2:g.17682_17686dup NG_008439.2:g.17681_17686dup NG_008439.2:g.17680_17686dup NG_008439.2:g.17679_17686dup NG_008439.2:g.17678_17686dup NG_008439.2:g.17676_17686dup NG_008439.2:g.17675_17686dup NG_008439.2:g.17674_17686dup NG_008439.2:g.17670_17686dup NG_008439.2:g.17686_17687insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NG_008439.2:g.17686_17687insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
KCTD19 RefSeqGene NG_053040.1:g.41564_41591= NG_053040.1:g.41575_41591del NG_053040.1:g.41576_41591del NG_053040.1:g.41577_41591del NG_053040.1:g.41578_41591del NG_053040.1:g.41579_41591del NG_053040.1:g.41580_41591del NG_053040.1:g.41581_41591del NG_053040.1:g.41582_41591del NG_053040.1:g.41583_41591del NG_053040.1:g.41584_41591del NG_053040.1:g.41585_41591del NG_053040.1:g.41586_41591del NG_053040.1:g.41587_41591del NG_053040.1:g.41588_41591del NG_053040.1:g.41589_41591del NG_053040.1:g.41590_41591del NG_053040.1:g.41591del NG_053040.1:g.41591dup NG_053040.1:g.41590_41591dup NG_053040.1:g.41589_41591dup NG_053040.1:g.41588_41591dup NG_053040.1:g.41587_41591dup NG_053040.1:g.41586_41591dup NG_053040.1:g.41585_41591dup NG_053040.1:g.41584_41591dup NG_053040.1:g.41583_41591dup NG_053040.1:g.41581_41591dup NG_053040.1:g.41580_41591dup NG_053040.1:g.41579_41591dup NG_053040.1:g.41575_41591dup NG_053040.1:g.41591_41592insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NG_053040.1:g.41591_41592insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
KCTD19 transcript NM_001100915.1:c.2668-486= NM_001100915.1:c.2668-502_2668-486del NM_001100915.1:c.2668-501_2668-486del NM_001100915.1:c.2668-500_2668-486del NM_001100915.1:c.2668-499_2668-486del NM_001100915.1:c.2668-498_2668-486del NM_001100915.1:c.2668-497_2668-486del NM_001100915.1:c.2668-496_2668-486del NM_001100915.1:c.2668-495_2668-486del NM_001100915.1:c.2668-494_2668-486del NM_001100915.1:c.2668-493_2668-486del NM_001100915.1:c.2668-492_2668-486del NM_001100915.1:c.2668-491_2668-486del NM_001100915.1:c.2668-490_2668-486del NM_001100915.1:c.2668-489_2668-486del NM_001100915.1:c.2668-488_2668-486del NM_001100915.1:c.2668-487_2668-486del NM_001100915.1:c.2668-486del NM_001100915.1:c.2668-486dup NM_001100915.1:c.2668-487_2668-486dup NM_001100915.1:c.2668-488_2668-486dup NM_001100915.1:c.2668-489_2668-486dup NM_001100915.1:c.2668-490_2668-486dup NM_001100915.1:c.2668-491_2668-486dup NM_001100915.1:c.2668-492_2668-486dup NM_001100915.1:c.2668-493_2668-486dup NM_001100915.1:c.2668-494_2668-486dup NM_001100915.1:c.2668-496_2668-486dup NM_001100915.1:c.2668-497_2668-486dup NM_001100915.1:c.2668-498_2668-486dup NM_001100915.1:c.2668-502_2668-486dup NM_001100915.1:c.2668-486_2668-485insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_001100915.1:c.2668-486_2668-485insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
KCTD19 transcript NM_001100915.3:c.2668-486= NM_001100915.3:c.2668-502_2668-486del NM_001100915.3:c.2668-501_2668-486del NM_001100915.3:c.2668-500_2668-486del NM_001100915.3:c.2668-499_2668-486del NM_001100915.3:c.2668-498_2668-486del NM_001100915.3:c.2668-497_2668-486del NM_001100915.3:c.2668-496_2668-486del NM_001100915.3:c.2668-495_2668-486del NM_001100915.3:c.2668-494_2668-486del NM_001100915.3:c.2668-493_2668-486del NM_001100915.3:c.2668-492_2668-486del NM_001100915.3:c.2668-491_2668-486del NM_001100915.3:c.2668-490_2668-486del NM_001100915.3:c.2668-489_2668-486del NM_001100915.3:c.2668-488_2668-486del NM_001100915.3:c.2668-487_2668-486del NM_001100915.3:c.2668-486del NM_001100915.3:c.2668-486dup NM_001100915.3:c.2668-487_2668-486dup NM_001100915.3:c.2668-488_2668-486dup NM_001100915.3:c.2668-489_2668-486dup NM_001100915.3:c.2668-490_2668-486dup NM_001100915.3:c.2668-491_2668-486dup NM_001100915.3:c.2668-492_2668-486dup NM_001100915.3:c.2668-493_2668-486dup NM_001100915.3:c.2668-494_2668-486dup NM_001100915.3:c.2668-496_2668-486dup NM_001100915.3:c.2668-497_2668-486dup NM_001100915.3:c.2668-498_2668-486dup NM_001100915.3:c.2668-502_2668-486dup NM_001100915.3:c.2668-486_2668-485insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_001100915.3:c.2668-486_2668-485insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
KCTD19 transcript variant X1 XM_005255808.1:c.2641-486= XM_005255808.1:c.2641-502_2641-486del XM_005255808.1:c.2641-501_2641-486del XM_005255808.1:c.2641-500_2641-486del XM_005255808.1:c.2641-499_2641-486del XM_005255808.1:c.2641-498_2641-486del XM_005255808.1:c.2641-497_2641-486del XM_005255808.1:c.2641-496_2641-486del XM_005255808.1:c.2641-495_2641-486del XM_005255808.1:c.2641-494_2641-486del XM_005255808.1:c.2641-493_2641-486del XM_005255808.1:c.2641-492_2641-486del XM_005255808.1:c.2641-491_2641-486del XM_005255808.1:c.2641-490_2641-486del XM_005255808.1:c.2641-489_2641-486del XM_005255808.1:c.2641-488_2641-486del XM_005255808.1:c.2641-487_2641-486del XM_005255808.1:c.2641-486del XM_005255808.1:c.2641-486dup XM_005255808.1:c.2641-487_2641-486dup XM_005255808.1:c.2641-488_2641-486dup XM_005255808.1:c.2641-489_2641-486dup XM_005255808.1:c.2641-490_2641-486dup XM_005255808.1:c.2641-491_2641-486dup XM_005255808.1:c.2641-492_2641-486dup XM_005255808.1:c.2641-493_2641-486dup XM_005255808.1:c.2641-494_2641-486dup XM_005255808.1:c.2641-496_2641-486dup XM_005255808.1:c.2641-497_2641-486dup XM_005255808.1:c.2641-498_2641-486dup XM_005255808.1:c.2641-502_2641-486dup XM_005255808.1:c.2641-486_2641-485insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA XM_005255808.1:c.2641-486_2641-485insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
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#.

52 SubSNP, 39 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGSV ss81053415 Dec 16, 2007 (137)
2 HGSV ss81102249 Dec 16, 2007 (137)
3 HUMANGENOME_JCVI ss95680411 Dec 05, 2013 (142)
4 PJP ss294893320 May 09, 2011 (137)
5 PJP ss294893321 May 09, 2011 (137)
6 SWEGEN ss3014688800 Nov 08, 2017 (151)
7 PACBIO ss3793047174 Jul 13, 2019 (153)
8 PACBIO ss3793047175 Jul 13, 2019 (153)
9 PACBIO ss3797932225 Jul 13, 2019 (153)
10 PACBIO ss3797932226 Jul 13, 2019 (153)
11 GNOMAD ss4302912582 Apr 26, 2021 (155)
12 GNOMAD ss4302912583 Apr 26, 2021 (155)
13 GNOMAD ss4302912584 Apr 26, 2021 (155)
14 GNOMAD ss4302912585 Apr 26, 2021 (155)
15 GNOMAD ss4302912586 Apr 26, 2021 (155)
16 GNOMAD ss4302912587 Apr 26, 2021 (155)
17 GNOMAD ss4302912588 Apr 26, 2021 (155)
18 GNOMAD ss4302912589 Apr 26, 2021 (155)
19 GNOMAD ss4302912590 Apr 26, 2021 (155)
20 GNOMAD ss4302912591 Apr 26, 2021 (155)
21 GNOMAD ss4302912592 Apr 26, 2021 (155)
22 GNOMAD ss4302912593 Apr 26, 2021 (155)
23 GNOMAD ss4302912594 Apr 26, 2021 (155)
24 GNOMAD ss4302912595 Apr 26, 2021 (155)
25 GNOMAD ss4302912596 Apr 26, 2021 (155)
26 GNOMAD ss4302912597 Apr 26, 2021 (155)
27 GNOMAD ss4302912598 Apr 26, 2021 (155)
28 GNOMAD ss4302912599 Apr 26, 2021 (155)
29 GNOMAD ss4302912600 Apr 26, 2021 (155)
30 GNOMAD ss4302912601 Apr 26, 2021 (155)
31 GNOMAD ss4302912602 Apr 26, 2021 (155)
32 GNOMAD ss4302912603 Apr 26, 2021 (155)
33 GNOMAD ss4302912604 Apr 26, 2021 (155)
34 GNOMAD ss4302912605 Apr 26, 2021 (155)
35 GNOMAD ss4302912606 Apr 26, 2021 (155)
36 GNOMAD ss4302912607 Apr 26, 2021 (155)
37 TOPMED ss5019213405 Apr 26, 2021 (155)
38 TOPMED ss5019213406 Apr 26, 2021 (155)
39 TOPMED ss5019213407 Apr 26, 2021 (155)
40 TOMMO_GENOMICS ss5220070689 Apr 26, 2021 (155)
41 TOMMO_GENOMICS ss5220070690 Apr 26, 2021 (155)
42 TOMMO_GENOMICS ss5220070691 Apr 26, 2021 (155)
43 TOMMO_GENOMICS ss5220070692 Apr 26, 2021 (155)
44 TOMMO_GENOMICS ss5220070693 Apr 26, 2021 (155)
45 1000G_HIGH_COVERAGE ss5301339763 Oct 16, 2022 (156)
46 1000G_HIGH_COVERAGE ss5301339764 Oct 16, 2022 (156)
47 1000G_HIGH_COVERAGE ss5301339765 Oct 16, 2022 (156)
48 SANFORD_IMAGENETICS ss5659118302 Oct 16, 2022 (156)
49 TOMMO_GENOMICS ss5775222382 Oct 16, 2022 (156)
50 TOMMO_GENOMICS ss5775222383 Oct 16, 2022 (156)
51 TOMMO_GENOMICS ss5775222384 Oct 16, 2022 (156)
52 TOMMO_GENOMICS ss5775222385 Oct 16, 2022 (156)
53 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 492754007 (NC_000016.10:67290167::T 261/66358)
Row 492754008 (NC_000016.10:67290167::TT 59/66350)
Row 492754009 (NC_000016.10:67290167::TTT 24/66340)...

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

Submission ignored due to conflicting rows:
Row 492754007 (NC_000016.10:67290167::T 261/66358)
Row 492754008 (NC_000016.10:67290167::TT 59/66350)
Row 492754009 (NC_000016.10:67290167::TTT 24/66340)...

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

Submission ignored due to conflicting rows:
Row 492754007 (NC_000016.10:67290167::T 261/66358)
Row 492754008 (NC_000016.10:67290167::TT 59/66350)
Row 492754009 (NC_000016.10:67290167::TTT 24/66340)...

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

Submission ignored due to conflicting rows:
Row 492754007 (NC_000016.10:67290167::T 261/66358)
Row 492754008 (NC_000016.10:67290167::TT 59/66350)
Row 492754009 (NC_000016.10:67290167::TTT 24/66340)...

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

Submission ignored due to conflicting rows:
Row 492754007 (NC_000016.10:67290167::T 261/66358)
Row 492754008 (NC_000016.10:67290167::TT 59/66350)
Row 492754009 (NC_000016.10:67290167::TTT 24/66340)...

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

Submission ignored due to conflicting rows:
Row 492754007 (NC_000016.10:67290167::T 261/66358)
Row 492754008 (NC_000016.10:67290167::TT 59/66350)
Row 492754009 (NC_000016.10:67290167::TTT 24/66340)...

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

Submission ignored due to conflicting rows:
Row 492754007 (NC_000016.10:67290167::T 261/66358)
Row 492754008 (NC_000016.10:67290167::TT 59/66350)
Row 492754009 (NC_000016.10:67290167::TTT 24/66340)...

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

Submission ignored due to conflicting rows:
Row 492754007 (NC_000016.10:67290167::T 261/66358)
Row 492754008 (NC_000016.10:67290167::TT 59/66350)
Row 492754009 (NC_000016.10:67290167::TTT 24/66340)...

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

Submission ignored due to conflicting rows:
Row 492754007 (NC_000016.10:67290167::T 261/66358)
Row 492754008 (NC_000016.10:67290167::TT 59/66350)
Row 492754009 (NC_000016.10:67290167::TTT 24/66340)...

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

Submission ignored due to conflicting rows:
Row 492754007 (NC_000016.10:67290167::T 261/66358)
Row 492754008 (NC_000016.10:67290167::TT 59/66350)
Row 492754009 (NC_000016.10:67290167::TTT 24/66340)...

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

Submission ignored due to conflicting rows:
Row 492754007 (NC_000016.10:67290167::T 261/66358)
Row 492754008 (NC_000016.10:67290167::TT 59/66350)
Row 492754009 (NC_000016.10:67290167::TTT 24/66340)...

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

Submission ignored due to conflicting rows:
Row 492754007 (NC_000016.10:67290167::T 261/66358)
Row 492754008 (NC_000016.10:67290167::TT 59/66350)
Row 492754009 (NC_000016.10:67290167::TTT 24/66340)...

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

Submission ignored due to conflicting rows:
Row 492754007 (NC_000016.10:67290167::T 261/66358)
Row 492754008 (NC_000016.10:67290167::TT 59/66350)
Row 492754009 (NC_000016.10:67290167::TTT 24/66340)...

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

Submission ignored due to conflicting rows:
Row 492754007 (NC_000016.10:67290167::T 261/66358)
Row 492754008 (NC_000016.10:67290167::TT 59/66350)
Row 492754009 (NC_000016.10:67290167::TTT 24/66340)...

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

Submission ignored due to conflicting rows:
Row 492754007 (NC_000016.10:67290167::T 261/66358)
Row 492754008 (NC_000016.10:67290167::TT 59/66350)
Row 492754009 (NC_000016.10:67290167::TTT 24/66340)...

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

Submission ignored due to conflicting rows:
Row 492754007 (NC_000016.10:67290167::T 261/66358)
Row 492754008 (NC_000016.10:67290167::TT 59/66350)
Row 492754009 (NC_000016.10:67290167::TTT 24/66340)...

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

Submission ignored due to conflicting rows:
Row 492754007 (NC_000016.10:67290167::T 261/66358)
Row 492754008 (NC_000016.10:67290167::TT 59/66350)
Row 492754009 (NC_000016.10:67290167::TTT 24/66340)...

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

Submission ignored due to conflicting rows:
Row 492754007 (NC_000016.10:67290167::T 261/66358)
Row 492754008 (NC_000016.10:67290167::TT 59/66350)
Row 492754009 (NC_000016.10:67290167::TTT 24/66340)...

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

Submission ignored due to conflicting rows:
Row 492754007 (NC_000016.10:67290167::T 261/66358)
Row 492754008 (NC_000016.10:67290167::TT 59/66350)
Row 492754009 (NC_000016.10:67290167::TTT 24/66340)...

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

Submission ignored due to conflicting rows:
Row 492754007 (NC_000016.10:67290167::T 261/66358)
Row 492754008 (NC_000016.10:67290167::TT 59/66350)
Row 492754009 (NC_000016.10:67290167::TTT 24/66340)...

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

Submission ignored due to conflicting rows:
Row 492754007 (NC_000016.10:67290167::T 261/66358)
Row 492754008 (NC_000016.10:67290167::TT 59/66350)
Row 492754009 (NC_000016.10:67290167::TTT 24/66340)...

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

Submission ignored due to conflicting rows:
Row 492754007 (NC_000016.10:67290167::T 261/66358)
Row 492754008 (NC_000016.10:67290167::TT 59/66350)
Row 492754009 (NC_000016.10:67290167::TTT 24/66340)...

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

Submission ignored due to conflicting rows:
Row 492754007 (NC_000016.10:67290167::T 261/66358)
Row 492754008 (NC_000016.10:67290167::TT 59/66350)
Row 492754009 (NC_000016.10:67290167::TTT 24/66340)...

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

Submission ignored due to conflicting rows:
Row 492754007 (NC_000016.10:67290167::T 261/66358)
Row 492754008 (NC_000016.10:67290167::TT 59/66350)
Row 492754009 (NC_000016.10:67290167::TTT 24/66340)...

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

Submission ignored due to conflicting rows:
Row 492754007 (NC_000016.10:67290167::T 261/66358)
Row 492754008 (NC_000016.10:67290167::TT 59/66350)
Row 492754009 (NC_000016.10:67290167::TTT 24/66340)...

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

Submission ignored due to conflicting rows:
Row 492754007 (NC_000016.10:67290167::T 261/66358)
Row 492754008 (NC_000016.10:67290167::TT 59/66350)
Row 492754009 (NC_000016.10:67290167::TTT 24/66340)...

- Apr 26, 2021 (155)
79 8.3KJPN

Submission ignored due to conflicting rows:
Row 78039996 (NC_000016.9:67324070:TTTTTTTTTTTTT: 7/15498)
Row 78039997 (NC_000016.9:67324070:T: 6228/15498)
Row 78039998 (NC_000016.9:67324070:TTTTTTTTTTT: 8/15498)...

- Apr 26, 2021 (155)
80 8.3KJPN

Submission ignored due to conflicting rows:
Row 78039996 (NC_000016.9:67324070:TTTTTTTTTTTTT: 7/15498)
Row 78039997 (NC_000016.9:67324070:T: 6228/15498)
Row 78039998 (NC_000016.9:67324070:TTTTTTTTTTT: 8/15498)...

- Apr 26, 2021 (155)
81 8.3KJPN

Submission ignored due to conflicting rows:
Row 78039996 (NC_000016.9:67324070:TTTTTTTTTTTTT: 7/15498)
Row 78039997 (NC_000016.9:67324070:T: 6228/15498)
Row 78039998 (NC_000016.9:67324070:TTTTTTTTTTT: 8/15498)...

- Apr 26, 2021 (155)
82 8.3KJPN

Submission ignored due to conflicting rows:
Row 78039996 (NC_000016.9:67324070:TTTTTTTTTTTTT: 7/15498)
Row 78039997 (NC_000016.9:67324070:T: 6228/15498)
Row 78039998 (NC_000016.9:67324070:TTTTTTTTTTT: 8/15498)...

- Apr 26, 2021 (155)
83 8.3KJPN

Submission ignored due to conflicting rows:
Row 78039996 (NC_000016.9:67324070:TTTTTTTTTTTTT: 7/15498)
Row 78039997 (NC_000016.9:67324070:T: 6228/15498)
Row 78039998 (NC_000016.9:67324070:TTTTTTTTTTT: 8/15498)...

- Apr 26, 2021 (155)
84 14KJPN

Submission ignored due to conflicting rows:
Row 109059486 (NC_000016.10:67290167:T: 16903/27518)
Row 109059487 (NC_000016.10:67290167:TTTTTTTTTTTTT: 12/27518)
Row 109059488 (NC_000016.10:67290167:TTTTTTTTTTT: 30/27518)...

- Oct 16, 2022 (156)
85 14KJPN

Submission ignored due to conflicting rows:
Row 109059486 (NC_000016.10:67290167:T: 16903/27518)
Row 109059487 (NC_000016.10:67290167:TTTTTTTTTTTTT: 12/27518)
Row 109059488 (NC_000016.10:67290167:TTTTTTTTTTT: 30/27518)...

- Oct 16, 2022 (156)
86 14KJPN

Submission ignored due to conflicting rows:
Row 109059486 (NC_000016.10:67290167:T: 16903/27518)
Row 109059487 (NC_000016.10:67290167:TTTTTTTTTTTTT: 12/27518)
Row 109059488 (NC_000016.10:67290167:TTTTTTTTTTT: 30/27518)...

- Oct 16, 2022 (156)
87 14KJPN

Submission ignored due to conflicting rows:
Row 109059486 (NC_000016.10:67290167:T: 16903/27518)
Row 109059487 (NC_000016.10:67290167:TTTTTTTTTTTTT: 12/27518)
Row 109059488 (NC_000016.10:67290167:TTTTTTTTTTT: 30/27518)...

- Oct 16, 2022 (156)
88 TopMed

Submission ignored due to conflicting rows:
Row 234759066 (NC_000016.10:67290167:TTTTTTTTTTTT: 77/264690)
Row 234759067 (NC_000016.10:67290167:TTTTTTTTTTTTT: 31/264690)
Row 234759068 (NC_000016.10:67290167:TTTTTTTTTTTTTT: 12/264690)

- Apr 26, 2021 (155)
89 TopMed

Submission ignored due to conflicting rows:
Row 234759066 (NC_000016.10:67290167:TTTTTTTTTTTT: 77/264690)
Row 234759067 (NC_000016.10:67290167:TTTTTTTTTTTTT: 31/264690)
Row 234759068 (NC_000016.10:67290167:TTTTTTTTTTTTTT: 12/264690)

- Apr 26, 2021 (155)
90 TopMed

Submission ignored due to conflicting rows:
Row 234759066 (NC_000016.10:67290167:TTTTTTTTTTTT: 77/264690)
Row 234759067 (NC_000016.10:67290167:TTTTTTTTTTTTT: 31/264690)
Row 234759068 (NC_000016.10:67290167:TTTTTTTTTTTTTT: 12/264690)

- Apr 26, 2021 (155)
91 ALFA NC_000016.10 - 67290168 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)
rs61705574 May 11, 2012 (137)
rs150955326 May 11, 2012 (137)
rs398029764 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4302912607 NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTT:

NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT

(self)
3445971104 NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT

NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT

(self)
ss4302912606 NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTT:

NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT

(self)
3445971104 NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT

NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT

(self)
ss4302912605 NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTT:

NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

(self)
3445971104 NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

(self)
ss4302912604, ss5019213407 NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTT:

NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
3445971104 NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
ss3014688800, ss5220070689 NC_000016.9:67324070:TTTTTTTTTTTTT: NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss4302912603, ss5019213406, ss5775222383 NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTT:

NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
3445971104 NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss4302912602, ss5019213405 NC_000016.10:67290167:TTTTTTTTTTTT: NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
3445971104 NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss5220070691 NC_000016.9:67324070:TTTTTTTTTTT: NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss4302912601, ss5775222384 NC_000016.10:67290167:TTTTTTTTTTT: NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
3445971104 NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss4302912600 NC_000016.10:67290167:TTTTTTTTTT: NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
3445971104 NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss4302912599 NC_000016.10:67290167:TTTTTTTTT: NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
3445971104 NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
ss4302912598, ss5301339765 NC_000016.10:67290167:TTTTTTTT: NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
3445971104 NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss4302912597 NC_000016.10:67290167:TTTTTTT: NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
3445971104 NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss4302912596 NC_000016.10:67290167:TTTTTT: NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
3445971104 NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4302912595 NC_000016.10:67290167:TTTT: NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

(self)
3445971104 NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

(self)
3445971104 NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss3793047174, ss3797932225, ss5220070693 NC_000016.9:67324070:TT: NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss5301339764 NC_000016.10:67290167:TT: NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
3445971104 NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss294893320 NC_000016.8:65881571:T: NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss81053415, ss81102249, ss294893321 NC_000016.8:65881598:T: NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss3793047175, ss3797932226, ss5220070690, ss5659118302 NC_000016.9:67324070:T: NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss5775222382 NC_000016.10:67290167:T: NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
3445971104 NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss95680411 NT_010498.15:20938296:T: NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss5220070692 NC_000016.9:67324070::T NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4302912582, ss5301339763, ss5775222385 NC_000016.10:67290167::T NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
3445971104 NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4302912583 NC_000016.10:67290167::TT NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
3445971104 NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4302912584 NC_000016.10:67290167::TTT NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4302912585 NC_000016.10:67290167::TTTT NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4302912586 NC_000016.10:67290167::TTTTT NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4302912587 NC_000016.10:67290167::TTTTTT NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4302912588 NC_000016.10:67290167::TTTTTTT NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
3445971104 NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4302912589 NC_000016.10:67290167::TTTTTTTT NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4302912590 NC_000016.10:67290167::TTTTTTTTT NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4302912591 NC_000016.10:67290167::TTTTTTTTTTT NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
3445971104 NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4302912592 NC_000016.10:67290167::TTTTTTTTTTT…

NC_000016.10:67290167::TTTTTTTTTTTTT

NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4302912593 NC_000016.10:67290167::TTTTTTTTTTT…

NC_000016.10:67290167::TTTTTTTTTTTTTTTTT

NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
3445971104 NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4302912594 NC_000016.10:67290167::TTTTTTTTTTT…

NC_000016.10:67290167::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss3249382349 NC_000016.10:67290167:TTTTT: NC_000016.10:67290167:TTTTTTTTTTTT…

NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

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 rs11296444

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