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.

rs150577324

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr5:37815488-37815522 (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(CTC)6 / del(CTC)5 / del(CTC)4

del(CTC)6 / del(CTC)5 / del(CTC)4 / del(CTC)3 / del(CTC)2 / delCTC / dupCTC / dup(CTC)2 / dup(CTC)3 / dup(CTC)4 / dup(CTC)5 / dup(CTC)6 / dup(CTC)7 / dup(CTC)8 / dup(CTC)9 / dup(CTC)11

Variation Type
Indel Insertion and Deletion
Frequency
delCTC=0.141377 (37421/264690, TOPMED)
delCTC=0.03887 (531/13662, ALFA)
delCTC=0.2173 (1088/5008, 1000G) (+ 2 more)
del(CTC)2=0.0402 (155/3854, ALSPAC)
delCTC=0.17 (7/40, GENOME_DK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
GDNF : 3 Prime UTR 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 13662 TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.91407 TCCTCCTCCTCCTCCTC=0.00000, TCCTCCTCCTCCTCCTCCTC=0.00000, TCCTCCTCCTCCTCCTCCTCCTC=0.00000, TCCTCCTCCTCCTCCTCCTCCTCCTC=0.00344, TCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.01727, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.03887, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.01383, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00242, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.01010, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00000, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00000, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00000, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00000 0.927838 0.00433 0.067832 21
European Sub 11500 TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.89965 TCCTCCTCCTCCTCCTC=0.00000, TCCTCCTCCTCCTCCTCCTC=0.00000, TCCTCCTCCTCCTCCTCCTCCTC=0.00000, TCCTCCTCCTCCTCCTCCTCCTCCTC=0.00409, TCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.02043, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.04470, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.01643, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00287, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.01183, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00000, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00000, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00000, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00000 0.916036 0.005236 0.078728 16
African Sub 1468 TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.9925 TCCTCCTCCTCCTCCTC=0.0000, TCCTCCTCCTCCTCCTCCTC=0.0000, TCCTCCTCCTCCTCCTCCTCCTC=0.0000, TCCTCCTCCTCCTCCTCCTCCTCCTC=0.0000, TCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.0000, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.0075, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.0000, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.0000, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.0000, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.0000, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.0000, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.0000, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.0000 0.985014 0.0 0.014986 0
African Others Sub 54 TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.98 TCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.02, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00 0.962963 0.0 0.037037 0
African American Sub 1414 TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.9929 TCCTCCTCCTCCTCCTC=0.0000, TCCTCCTCCTCCTCCTCCTC=0.0000, TCCTCCTCCTCCTCCTCCTCCTC=0.0000, TCCTCCTCCTCCTCCTCCTCCTCCTC=0.0000, TCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.0000, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.0071, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.0000, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.0000, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.0000, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.0000, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.0000, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.0000, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.0000 0.985856 0.0 0.014144 0
Asian Sub 40 TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.97 TCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.03, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00 0.95 0.0 0.05 0
East Asian Sub 30 TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=1.00 TCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 10 TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.9 TCCTCCTCCTCCTCCTC=0.0, TCCTCCTCCTCCTCCTCCTC=0.0, TCCTCCTCCTCCTCCTCCTCCTC=0.0, TCCTCCTCCTCCTCCTCCTCCTCCTC=0.0, TCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.0, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.1, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.0, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.0, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.0, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.0, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.0, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.0, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.0 0.8 0.0 0.2 0
Latin American 1 Sub 88 TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=1.00 TCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 236 TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=1.000 TCCTCCTCCTCCTCCTC=0.000, TCCTCCTCCTCCTCCTCCTC=0.000, TCCTCCTCCTCCTCCTCCTCCTC=0.000, TCCTCCTCCTCCTCCTCCTCCTCCTC=0.000, TCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.000, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.000, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.000, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.000, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.000, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.000, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.000, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.000, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.000 1.0 0.0 0.0 N/A
South Asian Sub 36 TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=1.00 TCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00 1.0 0.0 0.0 N/A
Other Sub 294 TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.973 TCCTCCTCCTCCTCCTC=0.000, TCCTCCTCCTCCTCCTCCTC=0.000, TCCTCCTCCTCCTCCTCCTCCTC=0.000, TCCTCCTCCTCCTCCTCCTCCTCCTC=0.000, TCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.003, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.017, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.000, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.000, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.007, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.000, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.000, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.000, TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.000 0.965517 0.0 0.034483 0


Help

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

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 (TCC)11TC=0.858623 delCTC=0.141377
Allele Frequency Aggregator Total Global 13662 (TCC)11TC=0.91407 del(CTC)6=0.00000, del(CTC)5=0.00000, del(CTC)4=0.00000, del(CTC)3=0.00344, del(CTC)2=0.01727, delCTC=0.03887, dupCTC=0.00000, dup(CTC)2=0.00000, dup(CTC)3=0.01383, dup(CTC)4=0.01010, dup(CTC)5=0.00000, dup(CTC)6=0.00000, dup(CTC)7=0.00242
Allele Frequency Aggregator European Sub 11500 (TCC)11TC=0.89965 del(CTC)6=0.00000, del(CTC)5=0.00000, del(CTC)4=0.00000, del(CTC)3=0.00409, del(CTC)2=0.02043, delCTC=0.04470, dupCTC=0.00000, dup(CTC)2=0.00000, dup(CTC)3=0.01643, dup(CTC)4=0.01183, dup(CTC)5=0.00000, dup(CTC)6=0.00000, dup(CTC)7=0.00287
Allele Frequency Aggregator African Sub 1468 (TCC)11TC=0.9925 del(CTC)6=0.0000, del(CTC)5=0.0000, del(CTC)4=0.0000, del(CTC)3=0.0000, del(CTC)2=0.0000, delCTC=0.0075, dupCTC=0.0000, dup(CTC)2=0.0000, dup(CTC)3=0.0000, dup(CTC)4=0.0000, dup(CTC)5=0.0000, dup(CTC)6=0.0000, dup(CTC)7=0.0000
Allele Frequency Aggregator Other Sub 294 (TCC)11TC=0.973 del(CTC)6=0.000, del(CTC)5=0.000, del(CTC)4=0.000, del(CTC)3=0.000, del(CTC)2=0.003, delCTC=0.017, dupCTC=0.000, dup(CTC)2=0.000, dup(CTC)3=0.000, dup(CTC)4=0.007, dup(CTC)5=0.000, dup(CTC)6=0.000, dup(CTC)7=0.000
Allele Frequency Aggregator Latin American 2 Sub 236 (TCC)11TC=1.000 del(CTC)6=0.000, del(CTC)5=0.000, del(CTC)4=0.000, del(CTC)3=0.000, del(CTC)2=0.000, delCTC=0.000, dupCTC=0.000, dup(CTC)2=0.000, dup(CTC)3=0.000, dup(CTC)4=0.000, dup(CTC)5=0.000, dup(CTC)6=0.000, dup(CTC)7=0.000
Allele Frequency Aggregator Latin American 1 Sub 88 (TCC)11TC=1.00 del(CTC)6=0.00, del(CTC)5=0.00, del(CTC)4=0.00, del(CTC)3=0.00, del(CTC)2=0.00, delCTC=0.00, dupCTC=0.00, dup(CTC)2=0.00, dup(CTC)3=0.00, dup(CTC)4=0.00, dup(CTC)5=0.00, dup(CTC)6=0.00, dup(CTC)7=0.00
Allele Frequency Aggregator Asian Sub 40 (TCC)11TC=0.97 del(CTC)6=0.00, del(CTC)5=0.00, del(CTC)4=0.00, del(CTC)3=0.00, del(CTC)2=0.00, delCTC=0.03, dupCTC=0.00, dup(CTC)2=0.00, dup(CTC)3=0.00, dup(CTC)4=0.00, dup(CTC)5=0.00, dup(CTC)6=0.00, dup(CTC)7=0.00
Allele Frequency Aggregator South Asian Sub 36 (TCC)11TC=1.00 del(CTC)6=0.00, del(CTC)5=0.00, del(CTC)4=0.00, del(CTC)3=0.00, del(CTC)2=0.00, delCTC=0.00, dupCTC=0.00, dup(CTC)2=0.00, dup(CTC)3=0.00, dup(CTC)4=0.00, dup(CTC)5=0.00, dup(CTC)6=0.00, dup(CTC)7=0.00
1000Genomes Global Study-wide 5008 (TCC)11TC=0.7827 delCTC=0.2173
1000Genomes African Sub 1322 (TCC)11TC=0.8116 delCTC=0.1884
1000Genomes East Asian Sub 1008 (TCC)11TC=0.7282 delCTC=0.2718
1000Genomes Europe Sub 1006 (TCC)11TC=0.8728 delCTC=0.1272
1000Genomes South Asian Sub 978 (TCC)11TC=0.777 delCTC=0.223
1000Genomes American Sub 694 (TCC)11TC=0.684 delCTC=0.316
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 (TCC)11TC=0.9598 del(CTC)2=0.0402
The Danish reference pan genome Danish Study-wide 40 (TCC)11TC=0.82 delCTC=0.17
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 5 NC_000005.10:g.37815490CTC[5]
GRCh38.p14 chr 5 NC_000005.10:g.37815490CTC[6]
GRCh38.p14 chr 5 NC_000005.10:g.37815490CTC[7]
GRCh38.p14 chr 5 NC_000005.10:g.37815490CTC[8]
GRCh38.p14 chr 5 NC_000005.10:g.37815490CTC[9]
GRCh38.p14 chr 5 NC_000005.10:g.37815490CTC[10]
GRCh38.p14 chr 5 NC_000005.10:g.37815490CTC[12]
GRCh38.p14 chr 5 NC_000005.10:g.37815490CTC[13]
GRCh38.p14 chr 5 NC_000005.10:g.37815490CTC[14]
GRCh38.p14 chr 5 NC_000005.10:g.37815490CTC[15]
GRCh38.p14 chr 5 NC_000005.10:g.37815490CTC[16]
GRCh38.p14 chr 5 NC_000005.10:g.37815490CTC[17]
GRCh38.p14 chr 5 NC_000005.10:g.37815490CTC[18]
GRCh38.p14 chr 5 NC_000005.10:g.37815490CTC[19]
GRCh38.p14 chr 5 NC_000005.10:g.37815490CTC[20]
GRCh38.p14 chr 5 NC_000005.10:g.37815490CTC[22]
GRCh37.p13 chr 5 NC_000005.9:g.37815592CTC[5]
GRCh37.p13 chr 5 NC_000005.9:g.37815592CTC[6]
GRCh37.p13 chr 5 NC_000005.9:g.37815592CTC[7]
GRCh37.p13 chr 5 NC_000005.9:g.37815592CTC[8]
GRCh37.p13 chr 5 NC_000005.9:g.37815592CTC[9]
GRCh37.p13 chr 5 NC_000005.9:g.37815592CTC[10]
GRCh37.p13 chr 5 NC_000005.9:g.37815592CTC[12]
GRCh37.p13 chr 5 NC_000005.9:g.37815592CTC[13]
GRCh37.p13 chr 5 NC_000005.9:g.37815592CTC[14]
GRCh37.p13 chr 5 NC_000005.9:g.37815592CTC[15]
GRCh37.p13 chr 5 NC_000005.9:g.37815592CTC[16]
GRCh37.p13 chr 5 NC_000005.9:g.37815592CTC[17]
GRCh37.p13 chr 5 NC_000005.9:g.37815592CTC[18]
GRCh37.p13 chr 5 NC_000005.9:g.37815592CTC[19]
GRCh37.p13 chr 5 NC_000005.9:g.37815592CTC[20]
GRCh37.p13 chr 5 NC_000005.9:g.37815592CTC[22]
GDNF RefSeqGene NG_011675.2:g.29161GGA[5]
GDNF RefSeqGene NG_011675.2:g.29161GGA[6]
GDNF RefSeqGene NG_011675.2:g.29161GGA[7]
GDNF RefSeqGene NG_011675.2:g.29161GGA[8]
GDNF RefSeqGene NG_011675.2:g.29161GGA[9]
GDNF RefSeqGene NG_011675.2:g.29161GGA[10]
GDNF RefSeqGene NG_011675.2:g.29161GGA[12]
GDNF RefSeqGene NG_011675.2:g.29161GGA[13]
GDNF RefSeqGene NG_011675.2:g.29161GGA[14]
GDNF RefSeqGene NG_011675.2:g.29161GGA[15]
GDNF RefSeqGene NG_011675.2:g.29161GGA[16]
GDNF RefSeqGene NG_011675.2:g.29161GGA[17]
GDNF RefSeqGene NG_011675.2:g.29161GGA[18]
GDNF RefSeqGene NG_011675.2:g.29161GGA[19]
GDNF RefSeqGene NG_011675.2:g.29161GGA[20]
GDNF RefSeqGene NG_011675.2:g.29161GGA[22]
Gene: GDNF, glial cell derived neurotrophic factor (minus strand)
Molecule type Change Amino acid[Codon] SO Term
GDNF transcript variant 2 NM_199231.2:c.*129_*163= N/A 3 Prime UTR Variant
GDNF transcript variant 3 NM_001190468.1:c.*129_*16…

NM_001190468.1:c.*129_*163=

N/A 3 Prime UTR Variant
GDNF transcript variant 4 NM_001190469.1:c.*129_*16…

NM_001190469.1:c.*129_*163=

N/A 3 Prime UTR Variant
GDNF transcript variant 6 NM_001278098.1:c.*129_*16…

NM_001278098.1:c.*129_*163=

N/A 3 Prime UTR Variant
GDNF transcript variant 1 NM_000514.4:c.*129_*163= N/A 3 Prime UTR Variant
GDNF transcript variant X1 XM_017009337.3:c.*129_*16…

XM_017009337.3:c.*129_*163=

N/A 3 Prime UTR 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.

Allele: del(CTC)2 (allele ID: 1264453 )
ClinVar Accession Disease Names Clinical Significance
RCV001679436.1 not provided Benign
Allele: delCTC (allele ID: 304196 )
ClinVar Accession Disease Names Clinical Significance
RCV000362220.3 Hirschsprung Disease, Dominant Likely-Benign
RCV001692017.1 not provided Benign
Allele: dupCTC (allele ID: 1217987 )
ClinVar Accession Disease Names Clinical Significance
RCV001614112.3 not provided Benign
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 (TCC)11TC= del(CTC)6 del(CTC)5 del(CTC)4 del(CTC)3 del(CTC)2 delCTC dupCTC dup(CTC)2 dup(CTC)3 dup(CTC)4 dup(CTC)5 dup(CTC)6 dup(CTC)7 dup(CTC)8 dup(CTC)9 dup(CTC)11
GRCh38.p14 chr 5 NC_000005.10:g.37815488_37815522= NC_000005.10:g.37815490CTC[5] NC_000005.10:g.37815490CTC[6] NC_000005.10:g.37815490CTC[7] NC_000005.10:g.37815490CTC[8] NC_000005.10:g.37815490CTC[9] NC_000005.10:g.37815490CTC[10] NC_000005.10:g.37815490CTC[12] NC_000005.10:g.37815490CTC[13] NC_000005.10:g.37815490CTC[14] NC_000005.10:g.37815490CTC[15] NC_000005.10:g.37815490CTC[16] NC_000005.10:g.37815490CTC[17] NC_000005.10:g.37815490CTC[18] NC_000005.10:g.37815490CTC[19] NC_000005.10:g.37815490CTC[20] NC_000005.10:g.37815490CTC[22]
GRCh37.p13 chr 5 NC_000005.9:g.37815590_37815624= NC_000005.9:g.37815592CTC[5] NC_000005.9:g.37815592CTC[6] NC_000005.9:g.37815592CTC[7] NC_000005.9:g.37815592CTC[8] NC_000005.9:g.37815592CTC[9] NC_000005.9:g.37815592CTC[10] NC_000005.9:g.37815592CTC[12] NC_000005.9:g.37815592CTC[13] NC_000005.9:g.37815592CTC[14] NC_000005.9:g.37815592CTC[15] NC_000005.9:g.37815592CTC[16] NC_000005.9:g.37815592CTC[17] NC_000005.9:g.37815592CTC[18] NC_000005.9:g.37815592CTC[19] NC_000005.9:g.37815592CTC[20] NC_000005.9:g.37815592CTC[22]
GDNF RefSeqGene NG_011675.2:g.29159_29193= NG_011675.2:g.29161GGA[5] NG_011675.2:g.29161GGA[6] NG_011675.2:g.29161GGA[7] NG_011675.2:g.29161GGA[8] NG_011675.2:g.29161GGA[9] NG_011675.2:g.29161GGA[10] NG_011675.2:g.29161GGA[12] NG_011675.2:g.29161GGA[13] NG_011675.2:g.29161GGA[14] NG_011675.2:g.29161GGA[15] NG_011675.2:g.29161GGA[16] NG_011675.2:g.29161GGA[17] NG_011675.2:g.29161GGA[18] NG_011675.2:g.29161GGA[19] NG_011675.2:g.29161GGA[20] NG_011675.2:g.29161GGA[22]
GDNF transcript variant 1 NM_000514.4:c.*129_*163= NM_000514.4:c.*131GGA[5] NM_000514.4:c.*131GGA[6] NM_000514.4:c.*131GGA[7] NM_000514.4:c.*131GGA[8] NM_000514.4:c.*131GGA[9] NM_000514.4:c.*131GGA[10] NM_000514.4:c.*131GGA[12] NM_000514.4:c.*131GGA[13] NM_000514.4:c.*131GGA[14] NM_000514.4:c.*131GGA[15] NM_000514.4:c.*131GGA[16] NM_000514.4:c.*131GGA[17] NM_000514.4:c.*131GGA[18] NM_000514.4:c.*131GGA[19] NM_000514.4:c.*131GGA[20] NM_000514.4:c.*131GGA[22]
GDNF transcript variant 1 NM_000514.3:c.*129_*163= NM_000514.3:c.*131GGA[5] NM_000514.3:c.*131GGA[6] NM_000514.3:c.*131GGA[7] NM_000514.3:c.*131GGA[8] NM_000514.3:c.*131GGA[9] NM_000514.3:c.*131GGA[10] NM_000514.3:c.*131GGA[12] NM_000514.3:c.*131GGA[13] NM_000514.3:c.*131GGA[14] NM_000514.3:c.*131GGA[15] NM_000514.3:c.*131GGA[16] NM_000514.3:c.*131GGA[17] NM_000514.3:c.*131GGA[18] NM_000514.3:c.*131GGA[19] NM_000514.3:c.*131GGA[20] NM_000514.3:c.*131GGA[22]
GDNF transcript variant 2 NM_199231.2:c.*129_*163= NM_199231.2:c.*131GGA[5] NM_199231.2:c.*131GGA[6] NM_199231.2:c.*131GGA[7] NM_199231.2:c.*131GGA[8] NM_199231.2:c.*131GGA[9] NM_199231.2:c.*131GGA[10] NM_199231.2:c.*131GGA[12] NM_199231.2:c.*131GGA[13] NM_199231.2:c.*131GGA[14] NM_199231.2:c.*131GGA[15] NM_199231.2:c.*131GGA[16] NM_199231.2:c.*131GGA[17] NM_199231.2:c.*131GGA[18] NM_199231.2:c.*131GGA[19] NM_199231.2:c.*131GGA[20] NM_199231.2:c.*131GGA[22]
GDNF transcript variant 3 NM_001190468.1:c.*129_*163= NM_001190468.1:c.*131GGA[5] NM_001190468.1:c.*131GGA[6] NM_001190468.1:c.*131GGA[7] NM_001190468.1:c.*131GGA[8] NM_001190468.1:c.*131GGA[9] NM_001190468.1:c.*131GGA[10] NM_001190468.1:c.*131GGA[12] NM_001190468.1:c.*131GGA[13] NM_001190468.1:c.*131GGA[14] NM_001190468.1:c.*131GGA[15] NM_001190468.1:c.*131GGA[16] NM_001190468.1:c.*131GGA[17] NM_001190468.1:c.*131GGA[18] NM_001190468.1:c.*131GGA[19] NM_001190468.1:c.*131GGA[20] NM_001190468.1:c.*131GGA[22]
GDNF transcript variant 4 NM_001190469.1:c.*129_*163= NM_001190469.1:c.*131GGA[5] NM_001190469.1:c.*131GGA[6] NM_001190469.1:c.*131GGA[7] NM_001190469.1:c.*131GGA[8] NM_001190469.1:c.*131GGA[9] NM_001190469.1:c.*131GGA[10] NM_001190469.1:c.*131GGA[12] NM_001190469.1:c.*131GGA[13] NM_001190469.1:c.*131GGA[14] NM_001190469.1:c.*131GGA[15] NM_001190469.1:c.*131GGA[16] NM_001190469.1:c.*131GGA[17] NM_001190469.1:c.*131GGA[18] NM_001190469.1:c.*131GGA[19] NM_001190469.1:c.*131GGA[20] NM_001190469.1:c.*131GGA[22]
GDNF transcript variant 6 NM_001278098.1:c.*129_*163= NM_001278098.1:c.*131GGA[5] NM_001278098.1:c.*131GGA[6] NM_001278098.1:c.*131GGA[7] NM_001278098.1:c.*131GGA[8] NM_001278098.1:c.*131GGA[9] NM_001278098.1:c.*131GGA[10] NM_001278098.1:c.*131GGA[12] NM_001278098.1:c.*131GGA[13] NM_001278098.1:c.*131GGA[14] NM_001278098.1:c.*131GGA[15] NM_001278098.1:c.*131GGA[16] NM_001278098.1:c.*131GGA[17] NM_001278098.1:c.*131GGA[18] NM_001278098.1:c.*131GGA[19] NM_001278098.1:c.*131GGA[20] NM_001278098.1:c.*131GGA[22]
GDNF transcript variant X1 XM_017009337.3:c.*129_*163= XM_017009337.3:c.*131GGA[5] XM_017009337.3:c.*131GGA[6] XM_017009337.3:c.*131GGA[7] XM_017009337.3:c.*131GGA[8] XM_017009337.3:c.*131GGA[9] XM_017009337.3:c.*131GGA[10] XM_017009337.3:c.*131GGA[12] XM_017009337.3:c.*131GGA[13] XM_017009337.3:c.*131GGA[14] XM_017009337.3:c.*131GGA[15] XM_017009337.3:c.*131GGA[16] XM_017009337.3:c.*131GGA[17] XM_017009337.3:c.*131GGA[18] XM_017009337.3:c.*131GGA[19] XM_017009337.3:c.*131GGA[20] XM_017009337.3:c.*131GGA[22]
GDNF transcript variant X1 XM_017009337.2:c.*131GGA[11] XM_017009337.2:c.*131GGA[5] XM_017009337.2:c.*131GGA[6] XM_017009337.2:c.*131GGA[7] XM_017009337.2:c.*131GGA[8] XM_017009337.2:c.*131GGA[9] XM_017009337.2:c.*131GGA[10] XM_017009337.2:c.*131GGA[12] XM_017009337.2:c.*131GGA[13] XM_017009337.2:c.*131GGA[14] XM_017009337.2:c.*131GGA[15] XM_017009337.2:c.*131GGA[16] XM_017009337.2:c.*131GGA[17] XM_017009337.2:c.*131GGA[18] XM_017009337.2:c.*131GGA[19] XM_017009337.2:c.*131GGA[20] XM_017009337.2:c.*131GGA[22]
GDNF transcript variant X1 XM_017009337.1:c.*129_*130insAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA XM_017009337.1:c.*129_*130insAGGAGGAGGAGGAGGA XM_017009337.1:c.*129_*130insAGGAGGAGGAGGAGGAGGA XM_017009337.1:c.*129_*130insAGGAGGAGGAGGAGGAGGAGGA XM_017009337.1:c.*129_*130insAGGAGGAGGAGGAGGAGGAGGAGGA XM_017009337.1:c.*129_*130insAGGAGGAGGAGGAGGAGGAGGAGGAGGA XM_017009337.1:c.*129_*130insAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA XM_017009337.1:c.*129_*130insAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA XM_017009337.1:c.*129_*130insAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA XM_017009337.1:c.*129_*130insAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA XM_017009337.1:c.*129_*130insAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA XM_017009337.1:c.*129_*130insAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA XM_017009337.1:c.*129_*130insAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA XM_017009337.1:c.*129_*130insAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA XM_017009337.1:c.*129_*130insAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA XM_017009337.1:c.*129_*130insAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA XM_017009337.1:c.*129_*130insAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA
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#.

77 SubSNP, 44 Frequency, 4 ClinVar submissions
No Submitter Submission ID Date (Build)
1 GMI ss288625451 May 04, 2012 (137)
2 1000GENOMES ss326658631 May 09, 2011 (134)
3 1000GENOMES ss326903812 May 09, 2011 (134)
4 LUNTER ss551489930 Apr 25, 2013 (138)
5 LUNTER ss551641627 Apr 25, 2013 (138)
6 LUNTER ss553194206 Apr 25, 2013 (138)
7 SSMP ss663601646 Apr 01, 2015 (144)
8 1000GENOMES ss1373681007 Aug 21, 2014 (142)
9 EVA_GENOME_DK ss1576498014 Apr 01, 2015 (144)
10 EVA_UK10K_TWINSUK ss1704635964 Apr 01, 2015 (144)
11 EVA_UK10K_ALSPAC ss1704639563 Apr 01, 2015 (144)
12 EVA_UK10K_TWINSUK ss1710204677 Apr 01, 2015 (136)
13 EVA_UK10K_ALSPAC ss1710204690 Apr 01, 2015 (136)
14 SWEGEN ss2996758204 Nov 08, 2017 (151)
15 MCHAISSO ss3065025550 Nov 08, 2017 (151)
16 MCHAISSO ss3066013184 Nov 08, 2017 (151)
17 EVA_DECODE ss3714491114 Jul 13, 2019 (153)
18 EVA_DECODE ss3714491115 Jul 13, 2019 (153)
19 EVA_DECODE ss3714491116 Jul 13, 2019 (153)
20 EVA_DECODE ss3714491117 Jul 13, 2019 (153)
21 EVA_DECODE ss3714491118 Jul 13, 2019 (153)
22 EVA_DECODE ss3714491119 Jul 13, 2019 (153)
23 ACPOP ss3732267589 Jul 13, 2019 (153)
24 ACPOP ss3732267590 Jul 13, 2019 (153)
25 ACPOP ss3732267591 Jul 13, 2019 (153)
26 ACPOP ss3732267592 Jul 13, 2019 (153)
27 ACPOP ss3732267593 Jul 13, 2019 (153)
28 ACPOP ss3732267594 Jul 13, 2019 (153)
29 KHV_HUMAN_GENOMES ss3806483840 Jul 13, 2019 (153)
30 EVA ss3829198545 Apr 26, 2020 (154)
31 KOGIC ss3956452451 Apr 26, 2020 (154)
32 KOGIC ss3956452452 Apr 26, 2020 (154)
33 KOGIC ss3956452453 Apr 26, 2020 (154)
34 KOGIC ss3956452454 Apr 26, 2020 (154)
35 KOGIC ss3956452455 Apr 26, 2020 (154)
36 KOGIC ss3956452456 Apr 26, 2020 (154)
37 GNOMAD ss4102679666 Apr 26, 2021 (155)
38 GNOMAD ss4102679667 Apr 26, 2021 (155)
39 GNOMAD ss4102679668 Apr 26, 2021 (155)
40 GNOMAD ss4102679669 Apr 26, 2021 (155)
41 GNOMAD ss4102679670 Apr 26, 2021 (155)
42 GNOMAD ss4102679671 Apr 26, 2021 (155)
43 GNOMAD ss4102679672 Apr 26, 2021 (155)
44 GNOMAD ss4102679673 Apr 26, 2021 (155)
45 GNOMAD ss4102679674 Apr 26, 2021 (155)
46 GNOMAD ss4102679675 Apr 26, 2021 (155)
47 GNOMAD ss4102679676 Apr 26, 2021 (155)
48 GNOMAD ss4102679677 Apr 26, 2021 (155)
49 GNOMAD ss4102679678 Apr 26, 2021 (155)
50 TOPMED ss4656342074 Apr 26, 2021 (155)
51 TOMMO_GENOMICS ss5171270650 Apr 26, 2021 (155)
52 TOMMO_GENOMICS ss5171270651 Apr 26, 2021 (155)
53 TOMMO_GENOMICS ss5171270652 Apr 26, 2021 (155)
54 TOMMO_GENOMICS ss5171270653 Apr 26, 2021 (155)
55 TOMMO_GENOMICS ss5171270654 Apr 26, 2021 (155)
56 TOMMO_GENOMICS ss5171270655 Apr 26, 2021 (155)
57 1000G_HIGH_COVERAGE ss5263578880 Oct 13, 2022 (156)
58 1000G_HIGH_COVERAGE ss5263578881 Oct 13, 2022 (156)
59 1000G_HIGH_COVERAGE ss5263578882 Oct 13, 2022 (156)
60 1000G_HIGH_COVERAGE ss5263578883 Oct 13, 2022 (156)
61 1000G_HIGH_COVERAGE ss5263578884 Oct 13, 2022 (156)
62 1000G_HIGH_COVERAGE ss5263578885 Oct 13, 2022 (156)
63 HUGCELL_USP ss5461843777 Oct 13, 2022 (156)
64 HUGCELL_USP ss5461843778 Oct 13, 2022 (156)
65 HUGCELL_USP ss5461843779 Oct 13, 2022 (156)
66 HUGCELL_USP ss5461843780 Oct 13, 2022 (156)
67 HUGCELL_USP ss5461843781 Oct 13, 2022 (156)
68 HUGCELL_USP ss5461843782 Oct 13, 2022 (156)
69 TOMMO_GENOMICS ss5707187944 Oct 13, 2022 (156)
70 TOMMO_GENOMICS ss5707187945 Oct 13, 2022 (156)
71 TOMMO_GENOMICS ss5707187946 Oct 13, 2022 (156)
72 TOMMO_GENOMICS ss5707187947 Oct 13, 2022 (156)
73 TOMMO_GENOMICS ss5707187948 Oct 13, 2022 (156)
74 TOMMO_GENOMICS ss5707187949 Oct 13, 2022 (156)
75 EVA ss5834793230 Oct 13, 2022 (156)
76 EVA ss5834793231 Oct 13, 2022 (156)
77 EVA ss5854772351 Oct 13, 2022 (156)
78 1000Genomes NC_000005.9 - 37815590 Oct 12, 2018 (152)
79 The Avon Longitudinal Study of Parents and Children NC_000005.9 - 37815590 Oct 12, 2018 (152)
80 The Danish reference pan genome NC_000005.9 - 37815590 Apr 26, 2020 (154)
81 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 185616503 (NC_000005.10:37815487::TCC 2781/130244)
Row 185616504 (NC_000005.10:37815487::TCCTCC 1548/130258)
Row 185616505 (NC_000005.10:37815487::TCCTCCTCC 2794/130244)...

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

Submission ignored due to conflicting rows:
Row 185616503 (NC_000005.10:37815487::TCC 2781/130244)
Row 185616504 (NC_000005.10:37815487::TCCTCC 1548/130258)
Row 185616505 (NC_000005.10:37815487::TCCTCCTCC 2794/130244)...

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

Submission ignored due to conflicting rows:
Row 185616503 (NC_000005.10:37815487::TCC 2781/130244)
Row 185616504 (NC_000005.10:37815487::TCCTCC 1548/130258)
Row 185616505 (NC_000005.10:37815487::TCCTCCTCC 2794/130244)...

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

Submission ignored due to conflicting rows:
Row 185616503 (NC_000005.10:37815487::TCC 2781/130244)
Row 185616504 (NC_000005.10:37815487::TCCTCC 1548/130258)
Row 185616505 (NC_000005.10:37815487::TCCTCCTCC 2794/130244)...

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

Submission ignored due to conflicting rows:
Row 185616503 (NC_000005.10:37815487::TCC 2781/130244)
Row 185616504 (NC_000005.10:37815487::TCCTCC 1548/130258)
Row 185616505 (NC_000005.10:37815487::TCCTCCTCC 2794/130244)...

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

Submission ignored due to conflicting rows:
Row 185616503 (NC_000005.10:37815487::TCC 2781/130244)
Row 185616504 (NC_000005.10:37815487::TCCTCC 1548/130258)
Row 185616505 (NC_000005.10:37815487::TCCTCCTCC 2794/130244)...

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

Submission ignored due to conflicting rows:
Row 185616503 (NC_000005.10:37815487::TCC 2781/130244)
Row 185616504 (NC_000005.10:37815487::TCCTCC 1548/130258)
Row 185616505 (NC_000005.10:37815487::TCCTCCTCC 2794/130244)...

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

Submission ignored due to conflicting rows:
Row 185616503 (NC_000005.10:37815487::TCC 2781/130244)
Row 185616504 (NC_000005.10:37815487::TCCTCC 1548/130258)
Row 185616505 (NC_000005.10:37815487::TCCTCCTCC 2794/130244)...

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

Submission ignored due to conflicting rows:
Row 185616503 (NC_000005.10:37815487::TCC 2781/130244)
Row 185616504 (NC_000005.10:37815487::TCCTCC 1548/130258)
Row 185616505 (NC_000005.10:37815487::TCCTCCTCC 2794/130244)...

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

Submission ignored due to conflicting rows:
Row 185616503 (NC_000005.10:37815487::TCC 2781/130244)
Row 185616504 (NC_000005.10:37815487::TCCTCC 1548/130258)
Row 185616505 (NC_000005.10:37815487::TCCTCCTCC 2794/130244)...

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

Submission ignored due to conflicting rows:
Row 185616503 (NC_000005.10:37815487::TCC 2781/130244)
Row 185616504 (NC_000005.10:37815487::TCCTCC 1548/130258)
Row 185616505 (NC_000005.10:37815487::TCCTCCTCC 2794/130244)...

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

Submission ignored due to conflicting rows:
Row 185616503 (NC_000005.10:37815487::TCC 2781/130244)
Row 185616504 (NC_000005.10:37815487::TCCTCC 1548/130258)
Row 185616505 (NC_000005.10:37815487::TCCTCCTCC 2794/130244)...

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

Submission ignored due to conflicting rows:
Row 185616503 (NC_000005.10:37815487::TCC 2781/130244)
Row 185616504 (NC_000005.10:37815487::TCCTCC 1548/130258)
Row 185616505 (NC_000005.10:37815487::TCCTCCTCC 2794/130244)...

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

Submission ignored due to conflicting rows:
Row 12830452 (NC_000005.10:37815493:TCC: 472/1832)
Row 12830453 (NC_000005.10:37815496::TCC 182/1832)
Row 12830454 (NC_000005.10:37815496::TCCTCCTCC 48/1832)...

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

Submission ignored due to conflicting rows:
Row 12830452 (NC_000005.10:37815493:TCC: 472/1832)
Row 12830453 (NC_000005.10:37815496::TCC 182/1832)
Row 12830454 (NC_000005.10:37815496::TCCTCCTCC 48/1832)...

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

Submission ignored due to conflicting rows:
Row 12830452 (NC_000005.10:37815493:TCC: 472/1832)
Row 12830453 (NC_000005.10:37815496::TCC 182/1832)
Row 12830454 (NC_000005.10:37815496::TCCTCCTCC 48/1832)...

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

Submission ignored due to conflicting rows:
Row 12830452 (NC_000005.10:37815493:TCC: 472/1832)
Row 12830453 (NC_000005.10:37815496::TCC 182/1832)
Row 12830454 (NC_000005.10:37815496::TCCTCCTCC 48/1832)...

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

Submission ignored due to conflicting rows:
Row 12830452 (NC_000005.10:37815493:TCC: 472/1832)
Row 12830453 (NC_000005.10:37815496::TCC 182/1832)
Row 12830454 (NC_000005.10:37815496::TCCTCCTCC 48/1832)...

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

Submission ignored due to conflicting rows:
Row 12830452 (NC_000005.10:37815493:TCC: 472/1832)
Row 12830453 (NC_000005.10:37815496::TCC 182/1832)
Row 12830454 (NC_000005.10:37815496::TCCTCCTCC 48/1832)...

- Apr 26, 2020 (154)
100 Northern Sweden

Submission ignored due to conflicting rows:
Row 5552454 (NC_000005.9:37815589:TCC: 70/600)
Row 5552455 (NC_000005.9:37815589:TCCTCC: 40/600)
Row 5552456 (NC_000005.9:37815589:TCCTCCTCC: 7/600)...

- Jul 13, 2019 (153)
101 Northern Sweden

Submission ignored due to conflicting rows:
Row 5552454 (NC_000005.9:37815589:TCC: 70/600)
Row 5552455 (NC_000005.9:37815589:TCCTCC: 40/600)
Row 5552456 (NC_000005.9:37815589:TCCTCCTCC: 7/600)...

- Jul 13, 2019 (153)
102 Northern Sweden

Submission ignored due to conflicting rows:
Row 5552454 (NC_000005.9:37815589:TCC: 70/600)
Row 5552455 (NC_000005.9:37815589:TCCTCC: 40/600)
Row 5552456 (NC_000005.9:37815589:TCCTCCTCC: 7/600)...

- Jul 13, 2019 (153)
103 Northern Sweden

Submission ignored due to conflicting rows:
Row 5552454 (NC_000005.9:37815589:TCC: 70/600)
Row 5552455 (NC_000005.9:37815589:TCCTCC: 40/600)
Row 5552456 (NC_000005.9:37815589:TCCTCCTCC: 7/600)...

- Jul 13, 2019 (153)
104 Northern Sweden

Submission ignored due to conflicting rows:
Row 5552454 (NC_000005.9:37815589:TCC: 70/600)
Row 5552455 (NC_000005.9:37815589:TCCTCC: 40/600)
Row 5552456 (NC_000005.9:37815589:TCCTCCTCC: 7/600)...

- Jul 13, 2019 (153)
105 Northern Sweden

Submission ignored due to conflicting rows:
Row 5552454 (NC_000005.9:37815589:TCC: 70/600)
Row 5552455 (NC_000005.9:37815589:TCCTCC: 40/600)
Row 5552456 (NC_000005.9:37815589:TCCTCCTCC: 7/600)...

- Jul 13, 2019 (153)
106 8.3KJPN

Submission ignored due to conflicting rows:
Row 29239957 (NC_000005.9:37815589:TCC: 5915/16760)
Row 29239958 (NC_000005.9:37815589::TCCTCCTCC 458/16760)
Row 29239959 (NC_000005.9:37815589::TCC 1008/16760)...

- Apr 26, 2021 (155)
107 8.3KJPN

Submission ignored due to conflicting rows:
Row 29239957 (NC_000005.9:37815589:TCC: 5915/16760)
Row 29239958 (NC_000005.9:37815589::TCCTCCTCC 458/16760)
Row 29239959 (NC_000005.9:37815589::TCC 1008/16760)...

- Apr 26, 2021 (155)
108 8.3KJPN

Submission ignored due to conflicting rows:
Row 29239957 (NC_000005.9:37815589:TCC: 5915/16760)
Row 29239958 (NC_000005.9:37815589::TCCTCCTCC 458/16760)
Row 29239959 (NC_000005.9:37815589::TCC 1008/16760)...

- Apr 26, 2021 (155)
109 8.3KJPN

Submission ignored due to conflicting rows:
Row 29239957 (NC_000005.9:37815589:TCC: 5915/16760)
Row 29239958 (NC_000005.9:37815589::TCCTCCTCC 458/16760)
Row 29239959 (NC_000005.9:37815589::TCC 1008/16760)...

- Apr 26, 2021 (155)
110 8.3KJPN

Submission ignored due to conflicting rows:
Row 29239957 (NC_000005.9:37815589:TCC: 5915/16760)
Row 29239958 (NC_000005.9:37815589::TCCTCCTCC 458/16760)
Row 29239959 (NC_000005.9:37815589::TCC 1008/16760)...

- Apr 26, 2021 (155)
111 8.3KJPN

Submission ignored due to conflicting rows:
Row 29239957 (NC_000005.9:37815589:TCC: 5915/16760)
Row 29239958 (NC_000005.9:37815589::TCCTCCTCC 458/16760)
Row 29239959 (NC_000005.9:37815589::TCC 1008/16760)...

- Apr 26, 2021 (155)
112 14KJPN

Submission ignored due to conflicting rows:
Row 41025048 (NC_000005.10:37815487:TCC: 9845/28254)
Row 41025049 (NC_000005.10:37815487::TCC 1528/28254)
Row 41025050 (NC_000005.10:37815487:TCCTCC: 199/28254)...

- Oct 13, 2022 (156)
113 14KJPN

Submission ignored due to conflicting rows:
Row 41025048 (NC_000005.10:37815487:TCC: 9845/28254)
Row 41025049 (NC_000005.10:37815487::TCC 1528/28254)
Row 41025050 (NC_000005.10:37815487:TCCTCC: 199/28254)...

- Oct 13, 2022 (156)
114 14KJPN

Submission ignored due to conflicting rows:
Row 41025048 (NC_000005.10:37815487:TCC: 9845/28254)
Row 41025049 (NC_000005.10:37815487::TCC 1528/28254)
Row 41025050 (NC_000005.10:37815487:TCCTCC: 199/28254)...

- Oct 13, 2022 (156)
115 14KJPN

Submission ignored due to conflicting rows:
Row 41025048 (NC_000005.10:37815487:TCC: 9845/28254)
Row 41025049 (NC_000005.10:37815487::TCC 1528/28254)
Row 41025050 (NC_000005.10:37815487:TCCTCC: 199/28254)...

- Oct 13, 2022 (156)
116 14KJPN

Submission ignored due to conflicting rows:
Row 41025048 (NC_000005.10:37815487:TCC: 9845/28254)
Row 41025049 (NC_000005.10:37815487::TCC 1528/28254)
Row 41025050 (NC_000005.10:37815487:TCCTCC: 199/28254)...

- Oct 13, 2022 (156)
117 14KJPN

Submission ignored due to conflicting rows:
Row 41025048 (NC_000005.10:37815487:TCC: 9845/28254)
Row 41025049 (NC_000005.10:37815487::TCC 1528/28254)
Row 41025050 (NC_000005.10:37815487:TCCTCC: 199/28254)...

- Oct 13, 2022 (156)
118 TopMed NC_000005.10 - 37815488 Apr 26, 2021 (155)
119 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 14611258 (NC_000005.9:37815592:TCC: 353/3708)
Row 14611259 (NC_000005.9:37815589:TCCTCC: 155/3708)

- Apr 26, 2020 (154)
120 UK 10K study - Twins - Oct 12, 2018 (152)
121 ALFA NC_000005.10 - 37815488 Apr 26, 2021 (155)
122 ClinVar RCV000362220.3 Oct 13, 2022 (156)
123 ClinVar RCV001614112.3 Oct 13, 2022 (156)
124 ClinVar RCV001679436.1 Oct 13, 2022 (156)
125 ClinVar RCV001692017.1 Oct 13, 2022 (156)
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)
rs750110846 Feb 27, 2017 (136)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
98531649 NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTC

NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTC

(self)
ss4102679678 NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCC:

NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTC

(self)
98531649 NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTC

NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTC

(self)
ss4102679677 NC_000005.10:37815487:TCCTCCTCCTCC: NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTC

(self)
98531649 NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTC

NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTC

(self)
ss2996758204, ss3732267591, ss5171270655 NC_000005.9:37815589:TCCTCCTCC: NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
ss3714491114, ss3956452456, ss4102679676, ss5707187949 NC_000005.10:37815487:TCCTCCTCC: NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
98531649 NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTC

NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
14611259, ss1704635964, ss1704639563, ss3732267590, ss5171270653, ss5834793231 NC_000005.9:37815589:TCCTCC: NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
ss4102679675, ss5263578883, ss5461843779, ss5707187946 NC_000005.10:37815487:TCCTCC: NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
RCV001679436.1, 98531649 NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTC

NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
ss3714491115, ss3956452455 NC_000005.10:37815490:TCCTCC: NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
ss288625451, ss326658631, ss326903812, ss551489930, ss551641627, ss553194206 NC_000005.8:37851346:TCC: NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
26273993, 990311, ss663601646, ss1373681007, ss1576498014, ss3732267589, ss5171270650, ss5834793230 NC_000005.9:37815589:TCC: NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
ss1710204677, ss1710204690 NC_000005.9:37815592:TCC: NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
493719631, ss3065025550, ss3066013184, ss3806483840, ss4102679674, ss4656342074, ss5263578880, ss5461843777, ss5707187944, ss5854772351 NC_000005.10:37815487:TCC: NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
RCV000362220.3, RCV001692017.1, 98531649 NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
ss3714491116, ss3956452451 NC_000005.10:37815493:TCC: NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
ss3732267594, ss5171270652 NC_000005.9:37815589::TCC NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
ss4102679666, ss5263578885, ss5461843782, ss5707187945 NC_000005.10:37815487::TCC NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
RCV001614112.3, 98531649 NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
ss3714491117, ss3956452452 NC_000005.10:37815496::TCC NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
ss5171270654 NC_000005.9:37815589::TCCTCC NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
ss4102679667, ss5707187948 NC_000005.10:37815487::TCCTCC NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
98531649 NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
ss3956452454 NC_000005.10:37815496::TCCTCC NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
ss3732267592, ss5171270651 NC_000005.9:37815589::TCCTCCTCC NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
ss4102679668, ss5263578881, ss5461843781, ss5707187947 NC_000005.10:37815487::TCCTCCTCC NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
98531649 NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
ss3714491118, ss3956452453 NC_000005.10:37815496::TCCTCCTCC NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
ss3732267593, ss3829198545 NC_000005.9:37815589::TCCTCCTCCTCC NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
ss4102679669, ss5461843780 NC_000005.10:37815487::TCCTCCTCCTCC NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
98531649 NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
ss3714491119 NC_000005.10:37815496::TCCTCCTCCTCC NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
ss4102679670, ss5263578882, ss5461843778 NC_000005.10:37815487::TCCTCCTCCTC…

NC_000005.10:37815487::TCCTCCTCCTCCTCC

NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
98531649 NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
98531649 NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
ss5263578884 NC_000005.10:37815487::TCCTCCTCCTC…

NC_000005.10:37815487::TCCTCCTCCTCCTCCTCCTCC

NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
98531649 NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
ss4102679671 NC_000005.10:37815487::TCCTCCTCCTC…

NC_000005.10:37815487::TCCTCCTCCTCCTCCTCCTCCTCC

NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
ss4102679672 NC_000005.10:37815487::TCCTCCTCCTC…

NC_000005.10:37815487::TCCTCCTCCTCCTCCTCCTCCTCCTCC

NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
ss4102679673 NC_000005.10:37815487::TCCTCCTCCTC…

NC_000005.10:37815487::TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC

NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss3461318879 NC_000005.10:37815487::TCCTCCTCCTC…

NC_000005.10:37815487::TCCTCCTCCTCCTCCTCC

NC_000005.10:37815487:TCCTCCTCCTCC…

NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

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 rs150577324

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