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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

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

Reference SNP (rs) Report

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

rs70976562

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr5:135028550-135028573 (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)16 / del(T)14 / del(T)13 / d…

del(T)16 / 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)10 / dup(T)11 / dup(T)12 / dup(T)13 / dup(T)14 / dup(T)15 / dup(T)17

Variation Type
Indel Insertion and Deletion
Frequency
del(T)13=0.000023 (6/264690, TOPMED)
delTT=0.0540 (519/9620, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PITX1 : 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 9620 TTTTTTTTTTTTTTTTTTTTTTTT=0.8935 TTTTTTTT=0.0000, TTTTTTTTTT=0.0000, 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, TTTTTTTTTTTTTTTTTTTTTT=0.0540, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0183, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0153, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0073, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0117, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000 0.917323 0.00579 0.076887 19
European Sub 8870 TTTTTTTTTTTTTTTTTTTTTTTT=0.8846 TTTTTTTT=0.0000, TTTTTTTTTT=0.0000, 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, TTTTTTTTTTTTTTTTTTTTTT=0.0584, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0198, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0166, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0079, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0127, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000 0.909713 0.00634 0.083946 16
African Sub 330 TTTTTTTTTTTTTTTTTTTTTTTT=1.000 TTTTTTTT=0.000, TTTTTTTTTT=0.000, 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, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
African Others Sub 12 TTTTTTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTT=0.00, TTTTTTTTTT=0.00, 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, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
African American Sub 318 TTTTTTTTTTTTTTTTTTTTTTTT=1.000 TTTTTTTT=0.000, TTTTTTTTTT=0.000, 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, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
Asian Sub 48 TTTTTTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTT=0.00, TTTTTTTTTT=0.00, 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, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
East Asian Sub 36 TTTTTTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTT=0.00, TTTTTTTTTT=0.00, 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, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 12 TTTTTTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTT=0.00, TTTTTTTTTT=0.00, 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, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 36 TTTTTTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTT=0.00, TTTTTTTTTT=0.00, 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, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 158 TTTTTTTTTTTTTTTTTTTTTTTT=1.000 TTTTTTTT=0.000, TTTTTTTTTT=0.000, 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, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
South Asian Sub 22 TTTTTTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTT=0.00, TTTTTTTTTT=0.00, 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, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Other Sub 156 TTTTTTTTTTTTTTTTTTTTTTTT=0.994 TTTTTTTT=0.000, TTTTTTTTTT=0.000, 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, TTTTTTTTTTTTTTTTTTTTTT=0.006, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000 0.987179 0.0 0.012821 0


Help

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

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 (T)24=0.999977 del(T)13=0.000023
Allele Frequency Aggregator Total Global 9620 (T)24=0.8935 del(T)16=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)6=0.0000, del(T)5=0.0000, del(T)4=0.0000, delTTT=0.0000, delTT=0.0540, delT=0.0000, dupT=0.0183, dupTT=0.0000, dupTTT=0.0000, dup(T)7=0.0117, dup(T)9=0.0153, dup(T)10=0.0073
Allele Frequency Aggregator European Sub 8870 (T)24=0.8846 del(T)16=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)6=0.0000, del(T)5=0.0000, del(T)4=0.0000, delTTT=0.0000, delTT=0.0584, delT=0.0000, dupT=0.0198, dupTT=0.0000, dupTTT=0.0000, dup(T)7=0.0127, dup(T)9=0.0166, dup(T)10=0.0079
Allele Frequency Aggregator African Sub 330 (T)24=1.000 del(T)16=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)6=0.000, del(T)5=0.000, del(T)4=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)7=0.000, dup(T)9=0.000, dup(T)10=0.000
Allele Frequency Aggregator Latin American 2 Sub 158 (T)24=1.000 del(T)16=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)6=0.000, del(T)5=0.000, del(T)4=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)7=0.000, dup(T)9=0.000, dup(T)10=0.000
Allele Frequency Aggregator Other Sub 156 (T)24=0.994 del(T)16=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)6=0.000, del(T)5=0.000, del(T)4=0.000, delTTT=0.000, delTT=0.006, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)7=0.000, dup(T)9=0.000, dup(T)10=0.000
Allele Frequency Aggregator Asian Sub 48 (T)24=1.00 del(T)16=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)6=0.00, del(T)5=0.00, del(T)4=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)7=0.00, dup(T)9=0.00, dup(T)10=0.00
Allele Frequency Aggregator Latin American 1 Sub 36 (T)24=1.00 del(T)16=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)6=0.00, del(T)5=0.00, del(T)4=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)7=0.00, dup(T)9=0.00, dup(T)10=0.00
Allele Frequency Aggregator South Asian Sub 22 (T)24=1.00 del(T)16=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)6=0.00, del(T)5=0.00, del(T)4=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)7=0.00, dup(T)9=0.00, dup(T)10=0.00
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 5 NC_000005.10:g.135028558_135028573del
GRCh38.p14 chr 5 NC_000005.10:g.135028560_135028573del
GRCh38.p14 chr 5 NC_000005.10:g.135028561_135028573del
GRCh38.p14 chr 5 NC_000005.10:g.135028562_135028573del
GRCh38.p14 chr 5 NC_000005.10:g.135028563_135028573del
GRCh38.p14 chr 5 NC_000005.10:g.135028564_135028573del
GRCh38.p14 chr 5 NC_000005.10:g.135028565_135028573del
GRCh38.p14 chr 5 NC_000005.10:g.135028566_135028573del
GRCh38.p14 chr 5 NC_000005.10:g.135028567_135028573del
GRCh38.p14 chr 5 NC_000005.10:g.135028568_135028573del
GRCh38.p14 chr 5 NC_000005.10:g.135028569_135028573del
GRCh38.p14 chr 5 NC_000005.10:g.135028570_135028573del
GRCh38.p14 chr 5 NC_000005.10:g.135028571_135028573del
GRCh38.p14 chr 5 NC_000005.10:g.135028572_135028573del
GRCh38.p14 chr 5 NC_000005.10:g.135028573del
GRCh38.p14 chr 5 NC_000005.10:g.135028573dup
GRCh38.p14 chr 5 NC_000005.10:g.135028572_135028573dup
GRCh38.p14 chr 5 NC_000005.10:g.135028571_135028573dup
GRCh38.p14 chr 5 NC_000005.10:g.135028570_135028573dup
GRCh38.p14 chr 5 NC_000005.10:g.135028569_135028573dup
GRCh38.p14 chr 5 NC_000005.10:g.135028568_135028573dup
GRCh38.p14 chr 5 NC_000005.10:g.135028567_135028573dup
GRCh38.p14 chr 5 NC_000005.10:g.135028566_135028573dup
GRCh38.p14 chr 5 NC_000005.10:g.135028565_135028573dup
GRCh38.p14 chr 5 NC_000005.10:g.135028564_135028573dup
GRCh38.p14 chr 5 NC_000005.10:g.135028563_135028573dup
GRCh38.p14 chr 5 NC_000005.10:g.135028562_135028573dup
GRCh38.p14 chr 5 NC_000005.10:g.135028561_135028573dup
GRCh38.p14 chr 5 NC_000005.10:g.135028560_135028573dup
GRCh38.p14 chr 5 NC_000005.10:g.135028559_135028573dup
GRCh38.p14 chr 5 NC_000005.10:g.135028557_135028573dup
GRCh37.p13 chr 5 NC_000005.9:g.134364248_134364263del
GRCh37.p13 chr 5 NC_000005.9:g.134364250_134364263del
GRCh37.p13 chr 5 NC_000005.9:g.134364251_134364263del
GRCh37.p13 chr 5 NC_000005.9:g.134364252_134364263del
GRCh37.p13 chr 5 NC_000005.9:g.134364253_134364263del
GRCh37.p13 chr 5 NC_000005.9:g.134364254_134364263del
GRCh37.p13 chr 5 NC_000005.9:g.134364255_134364263del
GRCh37.p13 chr 5 NC_000005.9:g.134364256_134364263del
GRCh37.p13 chr 5 NC_000005.9:g.134364257_134364263del
GRCh37.p13 chr 5 NC_000005.9:g.134364258_134364263del
GRCh37.p13 chr 5 NC_000005.9:g.134364259_134364263del
GRCh37.p13 chr 5 NC_000005.9:g.134364260_134364263del
GRCh37.p13 chr 5 NC_000005.9:g.134364261_134364263del
GRCh37.p13 chr 5 NC_000005.9:g.134364262_134364263del
GRCh37.p13 chr 5 NC_000005.9:g.134364263del
GRCh37.p13 chr 5 NC_000005.9:g.134364263dup
GRCh37.p13 chr 5 NC_000005.9:g.134364262_134364263dup
GRCh37.p13 chr 5 NC_000005.9:g.134364261_134364263dup
GRCh37.p13 chr 5 NC_000005.9:g.134364260_134364263dup
GRCh37.p13 chr 5 NC_000005.9:g.134364259_134364263dup
GRCh37.p13 chr 5 NC_000005.9:g.134364258_134364263dup
GRCh37.p13 chr 5 NC_000005.9:g.134364257_134364263dup
GRCh37.p13 chr 5 NC_000005.9:g.134364256_134364263dup
GRCh37.p13 chr 5 NC_000005.9:g.134364255_134364263dup
GRCh37.p13 chr 5 NC_000005.9:g.134364254_134364263dup
GRCh37.p13 chr 5 NC_000005.9:g.134364253_134364263dup
GRCh37.p13 chr 5 NC_000005.9:g.134364252_134364263dup
GRCh37.p13 chr 5 NC_000005.9:g.134364251_134364263dup
GRCh37.p13 chr 5 NC_000005.9:g.134364250_134364263dup
GRCh37.p13 chr 5 NC_000005.9:g.134364249_134364263dup
GRCh37.p13 chr 5 NC_000005.9:g.134364247_134364263dup
PITX1 RefSeqGene NG_012114.1:g.10710_10725del
PITX1 RefSeqGene NG_012114.1:g.10712_10725del
PITX1 RefSeqGene NG_012114.1:g.10713_10725del
PITX1 RefSeqGene NG_012114.1:g.10714_10725del
PITX1 RefSeqGene NG_012114.1:g.10715_10725del
PITX1 RefSeqGene NG_012114.1:g.10716_10725del
PITX1 RefSeqGene NG_012114.1:g.10717_10725del
PITX1 RefSeqGene NG_012114.1:g.10718_10725del
PITX1 RefSeqGene NG_012114.1:g.10719_10725del
PITX1 RefSeqGene NG_012114.1:g.10720_10725del
PITX1 RefSeqGene NG_012114.1:g.10721_10725del
PITX1 RefSeqGene NG_012114.1:g.10722_10725del
PITX1 RefSeqGene NG_012114.1:g.10723_10725del
PITX1 RefSeqGene NG_012114.1:g.10724_10725del
PITX1 RefSeqGene NG_012114.1:g.10725del
PITX1 RefSeqGene NG_012114.1:g.10725dup
PITX1 RefSeqGene NG_012114.1:g.10724_10725dup
PITX1 RefSeqGene NG_012114.1:g.10723_10725dup
PITX1 RefSeqGene NG_012114.1:g.10722_10725dup
PITX1 RefSeqGene NG_012114.1:g.10721_10725dup
PITX1 RefSeqGene NG_012114.1:g.10720_10725dup
PITX1 RefSeqGene NG_012114.1:g.10719_10725dup
PITX1 RefSeqGene NG_012114.1:g.10718_10725dup
PITX1 RefSeqGene NG_012114.1:g.10717_10725dup
PITX1 RefSeqGene NG_012114.1:g.10716_10725dup
PITX1 RefSeqGene NG_012114.1:g.10715_10725dup
PITX1 RefSeqGene NG_012114.1:g.10714_10725dup
PITX1 RefSeqGene NG_012114.1:g.10713_10725dup
PITX1 RefSeqGene NG_012114.1:g.10712_10725dup
PITX1 RefSeqGene NG_012114.1:g.10711_10725dup
PITX1 RefSeqGene NG_012114.1:g.10709_10725dup
Gene: PITX1, paired like homeodomain 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PITX1 transcript NM_002653.5:c.*206_*229= N/A 3 Prime UTR Variant
PITX1 transcript variant X1 XM_047417318.1:c.*206_*22…

XM_047417318.1:c.*206_*229=

N/A 3 Prime UTR Variant
PITX1 transcript variant X2 XM_047417319.1:c.*206_*22…

XM_047417319.1:c.*206_*229=

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.

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)24= del(T)16 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)10 dup(T)11 dup(T)12 dup(T)13 dup(T)14 dup(T)15 dup(T)17
GRCh38.p14 chr 5 NC_000005.10:g.135028550_135028573= NC_000005.10:g.135028558_135028573del NC_000005.10:g.135028560_135028573del NC_000005.10:g.135028561_135028573del NC_000005.10:g.135028562_135028573del NC_000005.10:g.135028563_135028573del NC_000005.10:g.135028564_135028573del NC_000005.10:g.135028565_135028573del NC_000005.10:g.135028566_135028573del NC_000005.10:g.135028567_135028573del NC_000005.10:g.135028568_135028573del NC_000005.10:g.135028569_135028573del NC_000005.10:g.135028570_135028573del NC_000005.10:g.135028571_135028573del NC_000005.10:g.135028572_135028573del NC_000005.10:g.135028573del NC_000005.10:g.135028573dup NC_000005.10:g.135028572_135028573dup NC_000005.10:g.135028571_135028573dup NC_000005.10:g.135028570_135028573dup NC_000005.10:g.135028569_135028573dup NC_000005.10:g.135028568_135028573dup NC_000005.10:g.135028567_135028573dup NC_000005.10:g.135028566_135028573dup NC_000005.10:g.135028565_135028573dup NC_000005.10:g.135028564_135028573dup NC_000005.10:g.135028563_135028573dup NC_000005.10:g.135028562_135028573dup NC_000005.10:g.135028561_135028573dup NC_000005.10:g.135028560_135028573dup NC_000005.10:g.135028559_135028573dup NC_000005.10:g.135028557_135028573dup
GRCh37.p13 chr 5 NC_000005.9:g.134364240_134364263= NC_000005.9:g.134364248_134364263del NC_000005.9:g.134364250_134364263del NC_000005.9:g.134364251_134364263del NC_000005.9:g.134364252_134364263del NC_000005.9:g.134364253_134364263del NC_000005.9:g.134364254_134364263del NC_000005.9:g.134364255_134364263del NC_000005.9:g.134364256_134364263del NC_000005.9:g.134364257_134364263del NC_000005.9:g.134364258_134364263del NC_000005.9:g.134364259_134364263del NC_000005.9:g.134364260_134364263del NC_000005.9:g.134364261_134364263del NC_000005.9:g.134364262_134364263del NC_000005.9:g.134364263del NC_000005.9:g.134364263dup NC_000005.9:g.134364262_134364263dup NC_000005.9:g.134364261_134364263dup NC_000005.9:g.134364260_134364263dup NC_000005.9:g.134364259_134364263dup NC_000005.9:g.134364258_134364263dup NC_000005.9:g.134364257_134364263dup NC_000005.9:g.134364256_134364263dup NC_000005.9:g.134364255_134364263dup NC_000005.9:g.134364254_134364263dup NC_000005.9:g.134364253_134364263dup NC_000005.9:g.134364252_134364263dup NC_000005.9:g.134364251_134364263dup NC_000005.9:g.134364250_134364263dup NC_000005.9:g.134364249_134364263dup NC_000005.9:g.134364247_134364263dup
PITX1 RefSeqGene NG_012114.1:g.10702_10725= NG_012114.1:g.10710_10725del NG_012114.1:g.10712_10725del NG_012114.1:g.10713_10725del NG_012114.1:g.10714_10725del NG_012114.1:g.10715_10725del NG_012114.1:g.10716_10725del NG_012114.1:g.10717_10725del NG_012114.1:g.10718_10725del NG_012114.1:g.10719_10725del NG_012114.1:g.10720_10725del NG_012114.1:g.10721_10725del NG_012114.1:g.10722_10725del NG_012114.1:g.10723_10725del NG_012114.1:g.10724_10725del NG_012114.1:g.10725del NG_012114.1:g.10725dup NG_012114.1:g.10724_10725dup NG_012114.1:g.10723_10725dup NG_012114.1:g.10722_10725dup NG_012114.1:g.10721_10725dup NG_012114.1:g.10720_10725dup NG_012114.1:g.10719_10725dup NG_012114.1:g.10718_10725dup NG_012114.1:g.10717_10725dup NG_012114.1:g.10716_10725dup NG_012114.1:g.10715_10725dup NG_012114.1:g.10714_10725dup NG_012114.1:g.10713_10725dup NG_012114.1:g.10712_10725dup NG_012114.1:g.10711_10725dup NG_012114.1:g.10709_10725dup
PITX1 transcript NM_002653.5:c.*206_*229= NM_002653.5:c.*214_*229del NM_002653.5:c.*216_*229del NM_002653.5:c.*217_*229del NM_002653.5:c.*218_*229del NM_002653.5:c.*219_*229del NM_002653.5:c.*220_*229del NM_002653.5:c.*221_*229del NM_002653.5:c.*222_*229del NM_002653.5:c.*223_*229del NM_002653.5:c.*224_*229del NM_002653.5:c.*225_*229del NM_002653.5:c.*226_*229del NM_002653.5:c.*227_*229del NM_002653.5:c.*228_*229del NM_002653.5:c.*229del NM_002653.5:c.*229dup NM_002653.5:c.*228_*229dup NM_002653.5:c.*227_*229dup NM_002653.5:c.*226_*229dup NM_002653.5:c.*225_*229dup NM_002653.5:c.*224_*229dup NM_002653.5:c.*223_*229dup NM_002653.5:c.*222_*229dup NM_002653.5:c.*221_*229dup NM_002653.5:c.*220_*229dup NM_002653.5:c.*219_*229dup NM_002653.5:c.*218_*229dup NM_002653.5:c.*217_*229dup NM_002653.5:c.*216_*229dup NM_002653.5:c.*215_*229dup NM_002653.5:c.*213_*229dup
PITX1 transcript NM_002653.4:c.*206_*229= NM_002653.4:c.*214_*229del NM_002653.4:c.*216_*229del NM_002653.4:c.*217_*229del NM_002653.4:c.*218_*229del NM_002653.4:c.*219_*229del NM_002653.4:c.*220_*229del NM_002653.4:c.*221_*229del NM_002653.4:c.*222_*229del NM_002653.4:c.*223_*229del NM_002653.4:c.*224_*229del NM_002653.4:c.*225_*229del NM_002653.4:c.*226_*229del NM_002653.4:c.*227_*229del NM_002653.4:c.*228_*229del NM_002653.4:c.*229del NM_002653.4:c.*229dup NM_002653.4:c.*228_*229dup NM_002653.4:c.*227_*229dup NM_002653.4:c.*226_*229dup NM_002653.4:c.*225_*229dup NM_002653.4:c.*224_*229dup NM_002653.4:c.*223_*229dup NM_002653.4:c.*222_*229dup NM_002653.4:c.*221_*229dup NM_002653.4:c.*220_*229dup NM_002653.4:c.*219_*229dup NM_002653.4:c.*218_*229dup NM_002653.4:c.*217_*229dup NM_002653.4:c.*216_*229dup NM_002653.4:c.*215_*229dup NM_002653.4:c.*213_*229dup
PITX1 transcript variant X1 XM_047417318.1:c.*206_*229= XM_047417318.1:c.*214_*229del XM_047417318.1:c.*216_*229del XM_047417318.1:c.*217_*229del XM_047417318.1:c.*218_*229del XM_047417318.1:c.*219_*229del XM_047417318.1:c.*220_*229del XM_047417318.1:c.*221_*229del XM_047417318.1:c.*222_*229del XM_047417318.1:c.*223_*229del XM_047417318.1:c.*224_*229del XM_047417318.1:c.*225_*229del XM_047417318.1:c.*226_*229del XM_047417318.1:c.*227_*229del XM_047417318.1:c.*228_*229del XM_047417318.1:c.*229del XM_047417318.1:c.*229dup XM_047417318.1:c.*228_*229dup XM_047417318.1:c.*227_*229dup XM_047417318.1:c.*226_*229dup XM_047417318.1:c.*225_*229dup XM_047417318.1:c.*224_*229dup XM_047417318.1:c.*223_*229dup XM_047417318.1:c.*222_*229dup XM_047417318.1:c.*221_*229dup XM_047417318.1:c.*220_*229dup XM_047417318.1:c.*219_*229dup XM_047417318.1:c.*218_*229dup XM_047417318.1:c.*217_*229dup XM_047417318.1:c.*216_*229dup XM_047417318.1:c.*215_*229dup XM_047417318.1:c.*213_*229dup
PITX1 transcript variant X2 XM_047417319.1:c.*206_*229= XM_047417319.1:c.*214_*229del XM_047417319.1:c.*216_*229del XM_047417319.1:c.*217_*229del XM_047417319.1:c.*218_*229del XM_047417319.1:c.*219_*229del XM_047417319.1:c.*220_*229del XM_047417319.1:c.*221_*229del XM_047417319.1:c.*222_*229del XM_047417319.1:c.*223_*229del XM_047417319.1:c.*224_*229del XM_047417319.1:c.*225_*229del XM_047417319.1:c.*226_*229del XM_047417319.1:c.*227_*229del XM_047417319.1:c.*228_*229del XM_047417319.1:c.*229del XM_047417319.1:c.*229dup XM_047417319.1:c.*228_*229dup XM_047417319.1:c.*227_*229dup XM_047417319.1:c.*226_*229dup XM_047417319.1:c.*225_*229dup XM_047417319.1:c.*224_*229dup XM_047417319.1:c.*223_*229dup XM_047417319.1:c.*222_*229dup XM_047417319.1:c.*221_*229dup XM_047417319.1:c.*220_*229dup XM_047417319.1:c.*219_*229dup XM_047417319.1:c.*218_*229dup XM_047417319.1:c.*217_*229dup XM_047417319.1:c.*216_*229dup XM_047417319.1:c.*215_*229dup XM_047417319.1:c.*213_*229dup
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#.

58 SubSNP, 44 Frequency submissions
No Submitter Submission ID Date (Build)
1 HUMANGENOME_JCVI ss95407763 Feb 13, 2009 (130)
2 SWEGEN ss2997833358 Nov 08, 2017 (151)
3 MCHAISSO ss3064176155 Jan 10, 2018 (151)
4 MCHAISSO ss3065052228 Jan 10, 2018 (151)
5 MCHAISSO ss3066043863 Jan 10, 2018 (151)
6 PACBIO ss3795516200 Jul 13, 2019 (153)
7 EVA ss3986031467 Apr 26, 2021 (155)
8 GNOMAD ss4129769080 Apr 26, 2021 (155)
9 GNOMAD ss4129769081 Apr 26, 2021 (155)
10 GNOMAD ss4129769082 Apr 26, 2021 (155)
11 GNOMAD ss4129769083 Apr 26, 2021 (155)
12 GNOMAD ss4129769084 Apr 26, 2021 (155)
13 GNOMAD ss4129769085 Apr 26, 2021 (155)
14 GNOMAD ss4129769086 Apr 26, 2021 (155)
15 GNOMAD ss4129769087 Apr 26, 2021 (155)
16 GNOMAD ss4129769088 Apr 26, 2021 (155)
17 GNOMAD ss4129769089 Apr 26, 2021 (155)
18 GNOMAD ss4129769090 Apr 26, 2021 (155)
19 GNOMAD ss4129769091 Apr 26, 2021 (155)
20 GNOMAD ss4129769092 Apr 26, 2021 (155)
21 GNOMAD ss4129769093 Apr 26, 2021 (155)
22 GNOMAD ss4129769094 Apr 26, 2021 (155)
23 GNOMAD ss4129769096 Apr 26, 2021 (155)
24 GNOMAD ss4129769097 Apr 26, 2021 (155)
25 GNOMAD ss4129769098 Apr 26, 2021 (155)
26 GNOMAD ss4129769099 Apr 26, 2021 (155)
27 GNOMAD ss4129769100 Apr 26, 2021 (155)
28 GNOMAD ss4129769101 Apr 26, 2021 (155)
29 GNOMAD ss4129769102 Apr 26, 2021 (155)
30 GNOMAD ss4129769103 Apr 26, 2021 (155)
31 GNOMAD ss4129769104 Apr 26, 2021 (155)
32 GNOMAD ss4129769105 Apr 26, 2021 (155)
33 GNOMAD ss4129769106 Apr 26, 2021 (155)
34 GNOMAD ss4129769107 Apr 26, 2021 (155)
35 GNOMAD ss4129769108 Apr 26, 2021 (155)
36 GNOMAD ss4129769109 Apr 26, 2021 (155)
37 GNOMAD ss4129769110 Apr 26, 2021 (155)
38 TOPMED ss4679600179 Apr 26, 2021 (155)
39 TOMMO_GENOMICS ss5174255083 Apr 26, 2021 (155)
40 TOMMO_GENOMICS ss5174255084 Apr 26, 2021 (155)
41 TOMMO_GENOMICS ss5174255085 Apr 26, 2021 (155)
42 TOMMO_GENOMICS ss5174255086 Apr 26, 2021 (155)
43 TOMMO_GENOMICS ss5174255087 Apr 26, 2021 (155)
44 TOMMO_GENOMICS ss5174255088 Apr 26, 2021 (155)
45 1000G_HIGH_COVERAGE ss5265934871 Oct 17, 2022 (156)
46 1000G_HIGH_COVERAGE ss5265934872 Oct 17, 2022 (156)
47 1000G_HIGH_COVERAGE ss5265934873 Oct 17, 2022 (156)
48 1000G_HIGH_COVERAGE ss5265934874 Oct 17, 2022 (156)
49 1000G_HIGH_COVERAGE ss5265934875 Oct 17, 2022 (156)
50 1000G_HIGH_COVERAGE ss5265934876 Oct 17, 2022 (156)
51 HUGCELL_USP ss5463892699 Oct 17, 2022 (156)
52 HUGCELL_USP ss5463892700 Oct 17, 2022 (156)
53 TOMMO_GENOMICS ss5711365512 Oct 17, 2022 (156)
54 TOMMO_GENOMICS ss5711365513 Oct 17, 2022 (156)
55 TOMMO_GENOMICS ss5711365514 Oct 17, 2022 (156)
56 TOMMO_GENOMICS ss5711365515 Oct 17, 2022 (156)
57 TOMMO_GENOMICS ss5711365516 Oct 17, 2022 (156)
58 TOMMO_GENOMICS ss5711365517 Oct 17, 2022 (156)
59 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 205120405 (NC_000005.10:135028549::T 2882/69658)
Row 205120406 (NC_000005.10:135028549::TT 114/69624)
Row 205120407 (NC_000005.10:135028549::TTTT 14/69616)...

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

Submission ignored due to conflicting rows:
Row 205120405 (NC_000005.10:135028549::T 2882/69658)
Row 205120406 (NC_000005.10:135028549::TT 114/69624)
Row 205120407 (NC_000005.10:135028549::TTTT 14/69616)...

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

Submission ignored due to conflicting rows:
Row 205120405 (NC_000005.10:135028549::T 2882/69658)
Row 205120406 (NC_000005.10:135028549::TT 114/69624)
Row 205120407 (NC_000005.10:135028549::TTTT 14/69616)...

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

Submission ignored due to conflicting rows:
Row 205120405 (NC_000005.10:135028549::T 2882/69658)
Row 205120406 (NC_000005.10:135028549::TT 114/69624)
Row 205120407 (NC_000005.10:135028549::TTTT 14/69616)...

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

Submission ignored due to conflicting rows:
Row 205120405 (NC_000005.10:135028549::T 2882/69658)
Row 205120406 (NC_000005.10:135028549::TT 114/69624)
Row 205120407 (NC_000005.10:135028549::TTTT 14/69616)...

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

Submission ignored due to conflicting rows:
Row 205120405 (NC_000005.10:135028549::T 2882/69658)
Row 205120406 (NC_000005.10:135028549::TT 114/69624)
Row 205120407 (NC_000005.10:135028549::TTTT 14/69616)...

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

Submission ignored due to conflicting rows:
Row 205120405 (NC_000005.10:135028549::T 2882/69658)
Row 205120406 (NC_000005.10:135028549::TT 114/69624)
Row 205120407 (NC_000005.10:135028549::TTTT 14/69616)...

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

Submission ignored due to conflicting rows:
Row 205120405 (NC_000005.10:135028549::T 2882/69658)
Row 205120406 (NC_000005.10:135028549::TT 114/69624)
Row 205120407 (NC_000005.10:135028549::TTTT 14/69616)...

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

Submission ignored due to conflicting rows:
Row 205120405 (NC_000005.10:135028549::T 2882/69658)
Row 205120406 (NC_000005.10:135028549::TT 114/69624)
Row 205120407 (NC_000005.10:135028549::TTTT 14/69616)...

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

Submission ignored due to conflicting rows:
Row 205120405 (NC_000005.10:135028549::T 2882/69658)
Row 205120406 (NC_000005.10:135028549::TT 114/69624)
Row 205120407 (NC_000005.10:135028549::TTTT 14/69616)...

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

Submission ignored due to conflicting rows:
Row 205120405 (NC_000005.10:135028549::T 2882/69658)
Row 205120406 (NC_000005.10:135028549::TT 114/69624)
Row 205120407 (NC_000005.10:135028549::TTTT 14/69616)...

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

Submission ignored due to conflicting rows:
Row 205120405 (NC_000005.10:135028549::T 2882/69658)
Row 205120406 (NC_000005.10:135028549::TT 114/69624)
Row 205120407 (NC_000005.10:135028549::TTTT 14/69616)...

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

Submission ignored due to conflicting rows:
Row 205120405 (NC_000005.10:135028549::T 2882/69658)
Row 205120406 (NC_000005.10:135028549::TT 114/69624)
Row 205120407 (NC_000005.10:135028549::TTTT 14/69616)...

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

Submission ignored due to conflicting rows:
Row 205120405 (NC_000005.10:135028549::T 2882/69658)
Row 205120406 (NC_000005.10:135028549::TT 114/69624)
Row 205120407 (NC_000005.10:135028549::TTTT 14/69616)...

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

Submission ignored due to conflicting rows:
Row 205120405 (NC_000005.10:135028549::T 2882/69658)
Row 205120406 (NC_000005.10:135028549::TT 114/69624)
Row 205120407 (NC_000005.10:135028549::TTTT 14/69616)...

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

Submission ignored due to conflicting rows:
Row 205120405 (NC_000005.10:135028549::T 2882/69658)
Row 205120406 (NC_000005.10:135028549::TT 114/69624)
Row 205120407 (NC_000005.10:135028549::TTTT 14/69616)...

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

Submission ignored due to conflicting rows:
Row 205120405 (NC_000005.10:135028549::T 2882/69658)
Row 205120406 (NC_000005.10:135028549::TT 114/69624)
Row 205120407 (NC_000005.10:135028549::TTTT 14/69616)...

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

Submission ignored due to conflicting rows:
Row 205120405 (NC_000005.10:135028549::T 2882/69658)
Row 205120406 (NC_000005.10:135028549::TT 114/69624)
Row 205120407 (NC_000005.10:135028549::TTTT 14/69616)...

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

Submission ignored due to conflicting rows:
Row 205120405 (NC_000005.10:135028549::T 2882/69658)
Row 205120406 (NC_000005.10:135028549::TT 114/69624)
Row 205120407 (NC_000005.10:135028549::TTTT 14/69616)...

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

Submission ignored due to conflicting rows:
Row 205120405 (NC_000005.10:135028549::T 2882/69658)
Row 205120406 (NC_000005.10:135028549::TT 114/69624)
Row 205120407 (NC_000005.10:135028549::TTTT 14/69616)...

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

Submission ignored due to conflicting rows:
Row 205120405 (NC_000005.10:135028549::T 2882/69658)
Row 205120406 (NC_000005.10:135028549::TT 114/69624)
Row 205120407 (NC_000005.10:135028549::TTTT 14/69616)...

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

Submission ignored due to conflicting rows:
Row 205120405 (NC_000005.10:135028549::T 2882/69658)
Row 205120406 (NC_000005.10:135028549::TT 114/69624)
Row 205120407 (NC_000005.10:135028549::TTTT 14/69616)...

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

Submission ignored due to conflicting rows:
Row 205120405 (NC_000005.10:135028549::T 2882/69658)
Row 205120406 (NC_000005.10:135028549::TT 114/69624)
Row 205120407 (NC_000005.10:135028549::TTTT 14/69616)...

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

Submission ignored due to conflicting rows:
Row 205120405 (NC_000005.10:135028549::T 2882/69658)
Row 205120406 (NC_000005.10:135028549::TT 114/69624)
Row 205120407 (NC_000005.10:135028549::TTTT 14/69616)...

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

Submission ignored due to conflicting rows:
Row 205120405 (NC_000005.10:135028549::T 2882/69658)
Row 205120406 (NC_000005.10:135028549::TT 114/69624)
Row 205120407 (NC_000005.10:135028549::TTTT 14/69616)...

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

Submission ignored due to conflicting rows:
Row 205120405 (NC_000005.10:135028549::T 2882/69658)
Row 205120406 (NC_000005.10:135028549::TT 114/69624)
Row 205120407 (NC_000005.10:135028549::TTTT 14/69616)...

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

Submission ignored due to conflicting rows:
Row 205120405 (NC_000005.10:135028549::T 2882/69658)
Row 205120406 (NC_000005.10:135028549::TT 114/69624)
Row 205120407 (NC_000005.10:135028549::TTTT 14/69616)...

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

Submission ignored due to conflicting rows:
Row 205120405 (NC_000005.10:135028549::T 2882/69658)
Row 205120406 (NC_000005.10:135028549::TT 114/69624)
Row 205120407 (NC_000005.10:135028549::TTTT 14/69616)...

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

Submission ignored due to conflicting rows:
Row 205120405 (NC_000005.10:135028549::T 2882/69658)
Row 205120406 (NC_000005.10:135028549::TT 114/69624)
Row 205120407 (NC_000005.10:135028549::TTTT 14/69616)...

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

Submission ignored due to conflicting rows:
Row 205120405 (NC_000005.10:135028549::T 2882/69658)
Row 205120406 (NC_000005.10:135028549::TT 114/69624)
Row 205120407 (NC_000005.10:135028549::TTTT 14/69616)...

- Apr 26, 2021 (155)
89 8.3KJPN

Submission ignored due to conflicting rows:
Row 32224390 (NC_000005.9:134364239::TTTTTTTT 400/16608)
Row 32224391 (NC_000005.9:134364239:TT: 2678/16608)
Row 32224392 (NC_000005.9:134364239::TTTTTTT 253/16608)...

- Apr 26, 2021 (155)
90 8.3KJPN

Submission ignored due to conflicting rows:
Row 32224390 (NC_000005.9:134364239::TTTTTTTT 400/16608)
Row 32224391 (NC_000005.9:134364239:TT: 2678/16608)
Row 32224392 (NC_000005.9:134364239::TTTTTTT 253/16608)...

- Apr 26, 2021 (155)
91 8.3KJPN

Submission ignored due to conflicting rows:
Row 32224390 (NC_000005.9:134364239::TTTTTTTT 400/16608)
Row 32224391 (NC_000005.9:134364239:TT: 2678/16608)
Row 32224392 (NC_000005.9:134364239::TTTTTTT 253/16608)...

- Apr 26, 2021 (155)
92 8.3KJPN

Submission ignored due to conflicting rows:
Row 32224390 (NC_000005.9:134364239::TTTTTTTT 400/16608)
Row 32224391 (NC_000005.9:134364239:TT: 2678/16608)
Row 32224392 (NC_000005.9:134364239::TTTTTTT 253/16608)...

- Apr 26, 2021 (155)
93 8.3KJPN

Submission ignored due to conflicting rows:
Row 32224390 (NC_000005.9:134364239::TTTTTTTT 400/16608)
Row 32224391 (NC_000005.9:134364239:TT: 2678/16608)
Row 32224392 (NC_000005.9:134364239::TTTTTTT 253/16608)...

- Apr 26, 2021 (155)
94 8.3KJPN

Submission ignored due to conflicting rows:
Row 32224390 (NC_000005.9:134364239::TTTTTTTT 400/16608)
Row 32224391 (NC_000005.9:134364239:TT: 2678/16608)
Row 32224392 (NC_000005.9:134364239::TTTTTTT 253/16608)...

- Apr 26, 2021 (155)
95 14KJPN

Submission ignored due to conflicting rows:
Row 45202616 (NC_000005.10:135028549::TTTTTTTT 339/27228)
Row 45202617 (NC_000005.10:135028549:TT: 5782/27228)
Row 45202618 (NC_000005.10:135028549:TTTTTTTTT: 225/27228)...

- Oct 17, 2022 (156)
96 14KJPN

Submission ignored due to conflicting rows:
Row 45202616 (NC_000005.10:135028549::TTTTTTTT 339/27228)
Row 45202617 (NC_000005.10:135028549:TT: 5782/27228)
Row 45202618 (NC_000005.10:135028549:TTTTTTTTT: 225/27228)...

- Oct 17, 2022 (156)
97 14KJPN

Submission ignored due to conflicting rows:
Row 45202616 (NC_000005.10:135028549::TTTTTTTT 339/27228)
Row 45202617 (NC_000005.10:135028549:TT: 5782/27228)
Row 45202618 (NC_000005.10:135028549:TTTTTTTTT: 225/27228)...

- Oct 17, 2022 (156)
98 14KJPN

Submission ignored due to conflicting rows:
Row 45202616 (NC_000005.10:135028549::TTTTTTTT 339/27228)
Row 45202617 (NC_000005.10:135028549:TT: 5782/27228)
Row 45202618 (NC_000005.10:135028549:TTTTTTTTT: 225/27228)...

- Oct 17, 2022 (156)
99 14KJPN

Submission ignored due to conflicting rows:
Row 45202616 (NC_000005.10:135028549::TTTTTTTT 339/27228)
Row 45202617 (NC_000005.10:135028549:TT: 5782/27228)
Row 45202618 (NC_000005.10:135028549:TTTTTTTTT: 225/27228)...

- Oct 17, 2022 (156)
100 14KJPN

Submission ignored due to conflicting rows:
Row 45202616 (NC_000005.10:135028549::TTTTTTTT 339/27228)
Row 45202617 (NC_000005.10:135028549:TT: 5782/27228)
Row 45202618 (NC_000005.10:135028549:TTTTTTTTT: 225/27228)...

- Oct 17, 2022 (156)
101 TopMed NC_000005.10 - 135028550 Apr 26, 2021 (155)
102 ALFA NC_000005.10 - 135028550 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)
rs71793281 May 11, 2012 (137)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4129769110 NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTT:

NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT

(self)
11266905170 NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT

NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT

(self)
ss4129769109 NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTT:

NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT

(self)
11266905170 NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT

NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT

(self)
516977736, ss4129769108, ss4679600179 NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTT:

NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT

(self)
11266905170 NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT

NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT

(self)
ss4129769107 NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTT:

NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT

(self)
11266905170 NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT

NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT

(self)
ss4129769106 NC_000005.10:135028549:TTTTTTTTTTT: NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

(self)
11266905170 NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

(self)
ss4129769105 NC_000005.10:135028549:TTTTTTTTTT: NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
11266905170 NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
ss5174255087 NC_000005.9:134364239:TTTTTTTTT: NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss4129769104, ss5265934875, ss5711365514 NC_000005.10:135028549:TTTTTTTTT: NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
11266905170 NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss4129769103, ss5711365516 NC_000005.10:135028549:TTTTTTTT: NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
11266905170 NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss2997833358 NC_000005.9:134364239:TTTTTTT: NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss4129769102, ss5265934876, ss5711365517 NC_000005.10:135028549:TTTTTTT: NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
11266905170 NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss4129769101 NC_000005.10:135028549:TTTTTT: NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
11266905170 NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss4129769100 NC_000005.10:135028549:TTTTT: NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
11266905170 NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
ss4129769099 NC_000005.10:135028549:TTTT: NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
11266905170 NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss4129769098, ss5265934872, ss5463892700 NC_000005.10:135028549:TTT: NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
11266905170 NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss5174255084 NC_000005.9:134364239:TT: NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
ss4129769097, ss5265934871, ss5463892699, ss5711365513 NC_000005.10:135028549:TT: NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
11266905170 NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
ss3795516200, ss5174255088 NC_000005.9:134364239:T: NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4129769096, ss5265934873, ss5711365515 NC_000005.10:135028549:T: NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
11266905170 NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4129769080, ss5265934874 NC_000005.10:135028549::T NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
11266905170 NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss95407763 NT_034772.6:42678135::T NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4129769081 NC_000005.10:135028549::TT NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
11266905170 NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
11266905170 NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4129769082 NC_000005.10:135028549::TTTT NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4129769083 NC_000005.10:135028549::TTTTT NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss5174255086 NC_000005.9:134364239::TTTTTT NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4129769084 NC_000005.10:135028549::TTTTTT NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss5174255085 NC_000005.9:134364239::TTTTTTT NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss3064176155, ss3065052228, ss3066043863, ss4129769085 NC_000005.10:135028549::TTTTTTT NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
11266905170 NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss3986031467, ss5174255083 NC_000005.9:134364239::TTTTTTTT NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4129769086, ss5711365512 NC_000005.10:135028549::TTTTTTTT NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4129769087 NC_000005.10:135028549::TTTTTTTTT NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
11266905170 NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4129769088 NC_000005.10:135028549::TTTTTTTTTT NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
11266905170 NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4129769089 NC_000005.10:135028549::TTTTTTTTTTT NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4129769090 NC_000005.10:135028549::TTTTTTTTTT…

NC_000005.10:135028549::TTTTTTTTTTTT

NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4129769091 NC_000005.10:135028549::TTTTTTTTTT…

NC_000005.10:135028549::TTTTTTTTTTTTT

NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4129769092 NC_000005.10:135028549::TTTTTTTTTT…

NC_000005.10:135028549::TTTTTTTTTTTTTT

NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4129769093 NC_000005.10:135028549::TTTTTTTTTT…

NC_000005.10:135028549::TTTTTTTTTTTTTTT

NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4129769094 NC_000005.10:135028549::TTTTTTTTTT…

NC_000005.10:135028549::TTTTTTTTTTTTTTTTT

NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss3479341779 NC_000005.10:135028549::TTT NC_000005.10:135028549:TTTTTTTTTTT…

NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

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 rs70976562

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