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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.

rs70983416

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:54371111-54371139 (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(GT)7 / del(GT)6 / del(GT)5 / d…

del(GT)7 / del(GT)6 / del(GT)5 / del(GT)4 / del(GT)3 / delGTGT / delGT / dupGT / dupGTGT / dup(GT)3 / dup(GT)4 / dup(GT)5 / dup(GT)6 / dup(GT)7

Variation Type
Indel Insertion and Deletion
Frequency
dupGT=0.3322 (2095/6306, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TINAG : Intron Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 6306 TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.4516 TGTGTGTGTGTGTGT=0.0155, TGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGT=0.0057, TGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGT=0.0032, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.1446, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.3322, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0471, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000 0.519859 0.240825 0.239316 32
European Sub 5086 TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.3213 TGTGTGTGTGTGTGT=0.0193, TGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGT=0.0069, TGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGT=0.0039, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.1793, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.4109, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0584, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000 0.310145 0.346377 0.343478 32
African Sub 846 TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=1.000 TGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000 1.0 0.0 0.0 N/A
African Others Sub 36 TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=1.00 TGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00 1.0 0.0 0.0 N/A
African American Sub 810 TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=1.000 TGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000 1.0 0.0 0.0 N/A
Asian Sub 38 TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=1.00 TGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00 1.0 0.0 0.0 N/A
East Asian Sub 24 TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=1.00 TGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 14 TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=1.00 TGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 34 TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=1.00 TGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 194 TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=1.000 TGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000 1.0 0.0 0.0 N/A
South Asian Sub 6 TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=1.0 TGTGTGTGTGTGTGT=0.0, TGTGTGTGTGTGTGTGT=0.0, TGTGTGTGTGTGTGTGTGT=0.0, TGTGTGTGTGTGTGTGTGTGT=0.0, TGTGTGTGTGTGTGTGTGTGTGT=0.0, TGTGTGTGTGTGTGTGTGTGTGTGT=0.0, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0 1.0 0.0 0.0 N/A
Other Sub 102 TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.941 TGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGT=0.010, TGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.049, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000 0.94 0.02 0.04 7


Help

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

Download
Study Population Group Sample Size Ref Allele Alt Allele
Allele Frequency Aggregator Total Global 6306 (TG)14T=0.4516 del(GT)7=0.0155, del(GT)6=0.0000, del(GT)5=0.0057, del(GT)4=0.0000, del(GT)3=0.0000, delGTGT=0.0032, delGT=0.1446, dupGT=0.3322, dupGTGT=0.0471, dup(GT)3=0.0000, dup(GT)4=0.0000, dup(GT)5=0.0000, dup(GT)6=0.0000, dup(GT)7=0.0000
Allele Frequency Aggregator European Sub 5086 (TG)14T=0.3213 del(GT)7=0.0193, del(GT)6=0.0000, del(GT)5=0.0069, del(GT)4=0.0000, del(GT)3=0.0000, delGTGT=0.0039, delGT=0.1793, dupGT=0.4109, dupGTGT=0.0584, dup(GT)3=0.0000, dup(GT)4=0.0000, dup(GT)5=0.0000, dup(GT)6=0.0000, dup(GT)7=0.0000
Allele Frequency Aggregator African Sub 846 (TG)14T=1.000 del(GT)7=0.000, del(GT)6=0.000, del(GT)5=0.000, del(GT)4=0.000, del(GT)3=0.000, delGTGT=0.000, delGT=0.000, dupGT=0.000, dupGTGT=0.000, dup(GT)3=0.000, dup(GT)4=0.000, dup(GT)5=0.000, dup(GT)6=0.000, dup(GT)7=0.000
Allele Frequency Aggregator Latin American 2 Sub 194 (TG)14T=1.000 del(GT)7=0.000, del(GT)6=0.000, del(GT)5=0.000, del(GT)4=0.000, del(GT)3=0.000, delGTGT=0.000, delGT=0.000, dupGT=0.000, dupGTGT=0.000, dup(GT)3=0.000, dup(GT)4=0.000, dup(GT)5=0.000, dup(GT)6=0.000, dup(GT)7=0.000
Allele Frequency Aggregator Other Sub 102 (TG)14T=0.941 del(GT)7=0.000, del(GT)6=0.000, del(GT)5=0.010, del(GT)4=0.000, del(GT)3=0.000, delGTGT=0.000, delGT=0.000, dupGT=0.049, dupGTGT=0.000, dup(GT)3=0.000, dup(GT)4=0.000, dup(GT)5=0.000, dup(GT)6=0.000, dup(GT)7=0.000
Allele Frequency Aggregator Asian Sub 38 (TG)14T=1.00 del(GT)7=0.00, del(GT)6=0.00, del(GT)5=0.00, del(GT)4=0.00, del(GT)3=0.00, delGTGT=0.00, delGT=0.00, dupGT=0.00, dupGTGT=0.00, dup(GT)3=0.00, dup(GT)4=0.00, dup(GT)5=0.00, dup(GT)6=0.00, dup(GT)7=0.00
Allele Frequency Aggregator Latin American 1 Sub 34 (TG)14T=1.00 del(GT)7=0.00, del(GT)6=0.00, del(GT)5=0.00, del(GT)4=0.00, del(GT)3=0.00, delGTGT=0.00, delGT=0.00, dupGT=0.00, dupGTGT=0.00, dup(GT)3=0.00, dup(GT)4=0.00, dup(GT)5=0.00, dup(GT)6=0.00, dup(GT)7=0.00
Allele Frequency Aggregator South Asian Sub 6 (TG)14T=1.0 del(GT)7=0.0, del(GT)6=0.0, del(GT)5=0.0, del(GT)4=0.0, del(GT)3=0.0, delGTGT=0.0, delGT=0.0, dupGT=0.0, dupGTGT=0.0, dup(GT)3=0.0, dup(GT)4=0.0, dup(GT)5=0.0, dup(GT)6=0.0, dup(GT)7=0.0
Help

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

Genomic Placements
Sequence name Change
GRCh38.p14 chr 6 NC_000006.12:g.54371112GT[7]
GRCh38.p14 chr 6 NC_000006.12:g.54371112GT[8]
GRCh38.p14 chr 6 NC_000006.12:g.54371112GT[9]
GRCh38.p14 chr 6 NC_000006.12:g.54371112GT[10]
GRCh38.p14 chr 6 NC_000006.12:g.54371112GT[11]
GRCh38.p14 chr 6 NC_000006.12:g.54371112GT[12]
GRCh38.p14 chr 6 NC_000006.12:g.54371112GT[13]
GRCh38.p14 chr 6 NC_000006.12:g.54371112GT[15]
GRCh38.p14 chr 6 NC_000006.12:g.54371112GT[16]
GRCh38.p14 chr 6 NC_000006.12:g.54371112GT[17]
GRCh38.p14 chr 6 NC_000006.12:g.54371112GT[18]
GRCh38.p14 chr 6 NC_000006.12:g.54371112GT[19]
GRCh38.p14 chr 6 NC_000006.12:g.54371112GT[20]
GRCh38.p14 chr 6 NC_000006.12:g.54371112GT[21]
GRCh37.p13 chr 6 NC_000006.11:g.54235910GT[7]
GRCh37.p13 chr 6 NC_000006.11:g.54235910GT[8]
GRCh37.p13 chr 6 NC_000006.11:g.54235910GT[9]
GRCh37.p13 chr 6 NC_000006.11:g.54235910GT[10]
GRCh37.p13 chr 6 NC_000006.11:g.54235910GT[11]
GRCh37.p13 chr 6 NC_000006.11:g.54235910GT[12]
GRCh37.p13 chr 6 NC_000006.11:g.54235910GT[13]
GRCh37.p13 chr 6 NC_000006.11:g.54235910GT[15]
GRCh37.p13 chr 6 NC_000006.11:g.54235910GT[16]
GRCh37.p13 chr 6 NC_000006.11:g.54235910GT[17]
GRCh37.p13 chr 6 NC_000006.11:g.54235910GT[18]
GRCh37.p13 chr 6 NC_000006.11:g.54235910GT[19]
GRCh37.p13 chr 6 NC_000006.11:g.54235910GT[20]
GRCh37.p13 chr 6 NC_000006.11:g.54235910GT[21]
Gene: TINAG, tubulointerstitial nephritis antigen (plus strand)
Molecule type Change Amino acid[Codon] SO Term
TINAG transcript NM_014464.4:c.1251-9415TG…

NM_014464.4:c.1251-9415TG[7]

N/A Intron Variant
TINAG transcript variant X1 XM_006715062.3:c.1197-941…

XM_006715062.3:c.1197-9415TG[7]

N/A Intron Variant
TINAG transcript variant X4 XM_011514497.3:c.1101-941…

XM_011514497.3:c.1101-9415TG[7]

N/A Intron Variant
TINAG transcript variant X3 XM_017010745.2:c.1250+164…

XM_017010745.2:c.1250+16475TG[7]

N/A Intron Variant
TINAG transcript variant X5 XM_017010746.2:c.1026-941…

XM_017010746.2:c.1026-9415TG[7]

N/A Intron Variant
TINAG transcript variant X6 XM_017010747.2:c.876-9415…

XM_017010747.2:c.876-9415TG[7]

N/A Intron Variant
TINAG transcript variant X8 XM_017010748.2:c.750-9415…

XM_017010748.2:c.750-9415TG[7]

N/A Intron Variant
TINAG transcript variant X2 XM_047418653.1:c.1251-941…

XM_047418653.1:c.1251-9415TG[7]

N/A Intron Variant
TINAG transcript variant X7 XR_001743344.3:n. N/A Genic Downstream Transcript 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 (TG)14T= del(GT)7 del(GT)6 del(GT)5 del(GT)4 del(GT)3 delGTGT delGT dupGT dupGTGT dup(GT)3 dup(GT)4 dup(GT)5 dup(GT)6 dup(GT)7
GRCh38.p14 chr 6 NC_000006.12:g.54371111_54371139= NC_000006.12:g.54371112GT[7] NC_000006.12:g.54371112GT[8] NC_000006.12:g.54371112GT[9] NC_000006.12:g.54371112GT[10] NC_000006.12:g.54371112GT[11] NC_000006.12:g.54371112GT[12] NC_000006.12:g.54371112GT[13] NC_000006.12:g.54371112GT[15] NC_000006.12:g.54371112GT[16] NC_000006.12:g.54371112GT[17] NC_000006.12:g.54371112GT[18] NC_000006.12:g.54371112GT[19] NC_000006.12:g.54371112GT[20] NC_000006.12:g.54371112GT[21]
GRCh37.p13 chr 6 NC_000006.11:g.54235909_54235937= NC_000006.11:g.54235910GT[7] NC_000006.11:g.54235910GT[8] NC_000006.11:g.54235910GT[9] NC_000006.11:g.54235910GT[10] NC_000006.11:g.54235910GT[11] NC_000006.11:g.54235910GT[12] NC_000006.11:g.54235910GT[13] NC_000006.11:g.54235910GT[15] NC_000006.11:g.54235910GT[16] NC_000006.11:g.54235910GT[17] NC_000006.11:g.54235910GT[18] NC_000006.11:g.54235910GT[19] NC_000006.11:g.54235910GT[20] NC_000006.11:g.54235910GT[21]
TINAG transcript NM_014464.3:c.1251-9415= NM_014464.3:c.1251-9415TG[7] NM_014464.3:c.1251-9415TG[8] NM_014464.3:c.1251-9415TG[9] NM_014464.3:c.1251-9415TG[10] NM_014464.3:c.1251-9415TG[11] NM_014464.3:c.1251-9415TG[12] NM_014464.3:c.1251-9415TG[13] NM_014464.3:c.1251-9415TG[15] NM_014464.3:c.1251-9415TG[16] NM_014464.3:c.1251-9415TG[17] NM_014464.3:c.1251-9415TG[18] NM_014464.3:c.1251-9415TG[19] NM_014464.3:c.1251-9415TG[20] NM_014464.3:c.1251-9415TG[21]
TINAG transcript NM_014464.4:c.1251-9415= NM_014464.4:c.1251-9415TG[7] NM_014464.4:c.1251-9415TG[8] NM_014464.4:c.1251-9415TG[9] NM_014464.4:c.1251-9415TG[10] NM_014464.4:c.1251-9415TG[11] NM_014464.4:c.1251-9415TG[12] NM_014464.4:c.1251-9415TG[13] NM_014464.4:c.1251-9415TG[15] NM_014464.4:c.1251-9415TG[16] NM_014464.4:c.1251-9415TG[17] NM_014464.4:c.1251-9415TG[18] NM_014464.4:c.1251-9415TG[19] NM_014464.4:c.1251-9415TG[20] NM_014464.4:c.1251-9415TG[21]
TINAG transcript variant X1 XM_006715062.3:c.1197-9415= XM_006715062.3:c.1197-9415TG[7] XM_006715062.3:c.1197-9415TG[8] XM_006715062.3:c.1197-9415TG[9] XM_006715062.3:c.1197-9415TG[10] XM_006715062.3:c.1197-9415TG[11] XM_006715062.3:c.1197-9415TG[12] XM_006715062.3:c.1197-9415TG[13] XM_006715062.3:c.1197-9415TG[15] XM_006715062.3:c.1197-9415TG[16] XM_006715062.3:c.1197-9415TG[17] XM_006715062.3:c.1197-9415TG[18] XM_006715062.3:c.1197-9415TG[19] XM_006715062.3:c.1197-9415TG[20] XM_006715062.3:c.1197-9415TG[21]
TINAG transcript variant X4 XM_011514497.3:c.1101-9415= XM_011514497.3:c.1101-9415TG[7] XM_011514497.3:c.1101-9415TG[8] XM_011514497.3:c.1101-9415TG[9] XM_011514497.3:c.1101-9415TG[10] XM_011514497.3:c.1101-9415TG[11] XM_011514497.3:c.1101-9415TG[12] XM_011514497.3:c.1101-9415TG[13] XM_011514497.3:c.1101-9415TG[15] XM_011514497.3:c.1101-9415TG[16] XM_011514497.3:c.1101-9415TG[17] XM_011514497.3:c.1101-9415TG[18] XM_011514497.3:c.1101-9415TG[19] XM_011514497.3:c.1101-9415TG[20] XM_011514497.3:c.1101-9415TG[21]
TINAG transcript variant X3 XM_017010745.2:c.1250+16475= XM_017010745.2:c.1250+16475TG[7] XM_017010745.2:c.1250+16475TG[8] XM_017010745.2:c.1250+16475TG[9] XM_017010745.2:c.1250+16475TG[10] XM_017010745.2:c.1250+16475TG[11] XM_017010745.2:c.1250+16475TG[12] XM_017010745.2:c.1250+16475TG[13] XM_017010745.2:c.1250+16475TG[15] XM_017010745.2:c.1250+16475TG[16] XM_017010745.2:c.1250+16475TG[17] XM_017010745.2:c.1250+16475TG[18] XM_017010745.2:c.1250+16475TG[19] XM_017010745.2:c.1250+16475TG[20] XM_017010745.2:c.1250+16475TG[21]
TINAG transcript variant X5 XM_017010746.2:c.1026-9415= XM_017010746.2:c.1026-9415TG[7] XM_017010746.2:c.1026-9415TG[8] XM_017010746.2:c.1026-9415TG[9] XM_017010746.2:c.1026-9415TG[10] XM_017010746.2:c.1026-9415TG[11] XM_017010746.2:c.1026-9415TG[12] XM_017010746.2:c.1026-9415TG[13] XM_017010746.2:c.1026-9415TG[15] XM_017010746.2:c.1026-9415TG[16] XM_017010746.2:c.1026-9415TG[17] XM_017010746.2:c.1026-9415TG[18] XM_017010746.2:c.1026-9415TG[19] XM_017010746.2:c.1026-9415TG[20] XM_017010746.2:c.1026-9415TG[21]
TINAG transcript variant X6 XM_017010747.2:c.876-9415= XM_017010747.2:c.876-9415TG[7] XM_017010747.2:c.876-9415TG[8] XM_017010747.2:c.876-9415TG[9] XM_017010747.2:c.876-9415TG[10] XM_017010747.2:c.876-9415TG[11] XM_017010747.2:c.876-9415TG[12] XM_017010747.2:c.876-9415TG[13] XM_017010747.2:c.876-9415TG[15] XM_017010747.2:c.876-9415TG[16] XM_017010747.2:c.876-9415TG[17] XM_017010747.2:c.876-9415TG[18] XM_017010747.2:c.876-9415TG[19] XM_017010747.2:c.876-9415TG[20] XM_017010747.2:c.876-9415TG[21]
TINAG transcript variant X8 XM_017010748.2:c.750-9415= XM_017010748.2:c.750-9415TG[7] XM_017010748.2:c.750-9415TG[8] XM_017010748.2:c.750-9415TG[9] XM_017010748.2:c.750-9415TG[10] XM_017010748.2:c.750-9415TG[11] XM_017010748.2:c.750-9415TG[12] XM_017010748.2:c.750-9415TG[13] XM_017010748.2:c.750-9415TG[15] XM_017010748.2:c.750-9415TG[16] XM_017010748.2:c.750-9415TG[17] XM_017010748.2:c.750-9415TG[18] XM_017010748.2:c.750-9415TG[19] XM_017010748.2:c.750-9415TG[20] XM_017010748.2:c.750-9415TG[21]
TINAG transcript variant X2 XM_047418653.1:c.1251-9415= XM_047418653.1:c.1251-9415TG[7] XM_047418653.1:c.1251-9415TG[8] XM_047418653.1:c.1251-9415TG[9] XM_047418653.1:c.1251-9415TG[10] XM_047418653.1:c.1251-9415TG[11] XM_047418653.1:c.1251-9415TG[12] XM_047418653.1:c.1251-9415TG[13] XM_047418653.1:c.1251-9415TG[15] XM_047418653.1:c.1251-9415TG[16] XM_047418653.1:c.1251-9415TG[17] XM_047418653.1:c.1251-9415TG[18] XM_047418653.1:c.1251-9415TG[19] XM_047418653.1:c.1251-9415TG[20] XM_047418653.1:c.1251-9415TG[21]
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#.

76 SubSNP, 36 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGSV ss82255146 Jan 10, 2018 (151)
2 HUMANGENOME_JCVI ss95429099 Feb 13, 2009 (130)
3 BUSHMAN ss193863033 Jul 04, 2010 (132)
4 GMI ss288730111 May 04, 2012 (137)
5 1000GENOMES ss326805712 May 09, 2011 (137)
6 1000GENOMES ss326853454 Jan 10, 2018 (151)
7 1000GENOMES ss327102719 May 09, 2011 (134)
8 LUNTER ss551617005 Apr 25, 2013 (138)
9 LUNTER ss551802002 Apr 25, 2013 (138)
10 LUNTER ss553248838 Apr 25, 2013 (138)
11 SSMP ss663702911 Apr 01, 2015 (144)
12 BILGI_BIOE ss666355067 Apr 25, 2013 (138)
13 EVA_UK10K_ALSPAC ss1705171403 Apr 01, 2015 (144)
14 EVA_UK10K_TWINSUK ss1705171641 Apr 01, 2015 (144)
15 EVA_UK10K_TWINSUK ss1710271192 Apr 01, 2015 (144)
16 EVA_UK10K_ALSPAC ss1710271318 Apr 01, 2015 (144)
17 SWEGEN ss2999100501 Nov 08, 2017 (151)
18 MCHAISSO ss3066082119 Nov 08, 2017 (151)
19 MCHAISSO ss3066082120 Nov 08, 2017 (151)
20 URBANLAB ss3648355993 Oct 12, 2018 (152)
21 URBANLAB ss3648355994 Oct 12, 2018 (152)
22 EVA_DECODE ss3717255465 Jul 13, 2019 (153)
23 EVA_DECODE ss3717255466 Jul 13, 2019 (153)
24 EVA_DECODE ss3717255467 Jul 13, 2019 (153)
25 EVA_DECODE ss3717255468 Jul 13, 2019 (153)
26 EVA_DECODE ss3717255469 Jul 13, 2019 (153)
27 EVA_DECODE ss3717255470 Jul 13, 2019 (153)
28 PACBIO ss3785481383 Jul 13, 2019 (153)
29 PACBIO ss3790831209 Jul 13, 2019 (153)
30 PACBIO ss3795709930 Jul 13, 2019 (153)
31 KHV_HUMAN_GENOMES ss3808195030 Jul 13, 2019 (153)
32 EVA ss3829934518 Apr 26, 2020 (154)
33 KOGIC ss3959076400 Apr 26, 2020 (154)
34 KOGIC ss3959076401 Apr 26, 2020 (154)
35 KOGIC ss3959076402 Apr 26, 2020 (154)
36 KOGIC ss3959076403 Apr 26, 2020 (154)
37 KOGIC ss3959076404 Apr 26, 2020 (154)
38 KOGIC ss3959076405 Apr 26, 2020 (154)
39 GNOMAD ss4142158749 Apr 26, 2021 (155)
40 GNOMAD ss4142158750 Apr 26, 2021 (155)
41 GNOMAD ss4142158751 Apr 26, 2021 (155)
42 GNOMAD ss4142158752 Apr 26, 2021 (155)
43 GNOMAD ss4142158753 Apr 26, 2021 (155)
44 GNOMAD ss4142158754 Apr 26, 2021 (155)
45 GNOMAD ss4142158756 Apr 26, 2021 (155)
46 GNOMAD ss4142158757 Apr 26, 2021 (155)
47 GNOMAD ss4142158758 Apr 26, 2021 (155)
48 GNOMAD ss4142158759 Apr 26, 2021 (155)
49 GNOMAD ss4142158760 Apr 26, 2021 (155)
50 GNOMAD ss4142158761 Apr 26, 2021 (155)
51 GNOMAD ss4142158762 Apr 26, 2021 (155)
52 TOMMO_GENOMICS ss5177602322 Apr 26, 2021 (155)
53 TOMMO_GENOMICS ss5177602323 Apr 26, 2021 (155)
54 TOMMO_GENOMICS ss5177602324 Apr 26, 2021 (155)
55 TOMMO_GENOMICS ss5177602325 Apr 26, 2021 (155)
56 TOMMO_GENOMICS ss5177602326 Apr 26, 2021 (155)
57 TOMMO_GENOMICS ss5177602327 Apr 26, 2021 (155)
58 1000G_HIGH_COVERAGE ss5268527037 Oct 17, 2022 (156)
59 1000G_HIGH_COVERAGE ss5268527038 Oct 17, 2022 (156)
60 1000G_HIGH_COVERAGE ss5268527039 Oct 17, 2022 (156)
61 1000G_HIGH_COVERAGE ss5268527040 Oct 17, 2022 (156)
62 1000G_HIGH_COVERAGE ss5268527041 Oct 17, 2022 (156)
63 1000G_HIGH_COVERAGE ss5268527042 Oct 17, 2022 (156)
64 HUGCELL_USP ss5466191445 Oct 17, 2022 (156)
65 HUGCELL_USP ss5466191446 Oct 17, 2022 (156)
66 HUGCELL_USP ss5466191447 Oct 17, 2022 (156)
67 HUGCELL_USP ss5466191448 Oct 17, 2022 (156)
68 HUGCELL_USP ss5466191449 Oct 17, 2022 (156)
69 TOMMO_GENOMICS ss5715679933 Oct 17, 2022 (156)
70 TOMMO_GENOMICS ss5715679934 Oct 17, 2022 (156)
71 TOMMO_GENOMICS ss5715679935 Oct 17, 2022 (156)
72 TOMMO_GENOMICS ss5715679936 Oct 17, 2022 (156)
73 TOMMO_GENOMICS ss5715679937 Oct 17, 2022 (156)
74 TOMMO_GENOMICS ss5715679938 Oct 17, 2022 (156)
75 EVA ss5842274315 Oct 17, 2022 (156)
76 EVA ss5842274316 Oct 17, 2022 (156)
77 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 17855978 (NC_000006.11:54235908::TG 1503/3854)
Row 17855979 (NC_000006.11:54235908:TG: 1067/3854)

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

Submission ignored due to conflicting rows:
Row 17855978 (NC_000006.11:54235908::TG 1503/3854)
Row 17855979 (NC_000006.11:54235908:TG: 1067/3854)

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

Submission ignored due to conflicting rows:
Row 225882779 (NC_000006.12:54371110::TG 44845/137238)
Row 225882780 (NC_000006.12:54371110::TGTG 9330/137316)
Row 225882781 (NC_000006.12:54371110::TGTGTG 325/137380)...

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

Submission ignored due to conflicting rows:
Row 225882779 (NC_000006.12:54371110::TG 44845/137238)
Row 225882780 (NC_000006.12:54371110::TGTG 9330/137316)
Row 225882781 (NC_000006.12:54371110::TGTGTG 325/137380)...

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

Submission ignored due to conflicting rows:
Row 225882779 (NC_000006.12:54371110::TG 44845/137238)
Row 225882780 (NC_000006.12:54371110::TGTG 9330/137316)
Row 225882781 (NC_000006.12:54371110::TGTGTG 325/137380)...

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

Submission ignored due to conflicting rows:
Row 225882779 (NC_000006.12:54371110::TG 44845/137238)
Row 225882780 (NC_000006.12:54371110::TGTG 9330/137316)
Row 225882781 (NC_000006.12:54371110::TGTGTG 325/137380)...

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

Submission ignored due to conflicting rows:
Row 225882779 (NC_000006.12:54371110::TG 44845/137238)
Row 225882780 (NC_000006.12:54371110::TGTG 9330/137316)
Row 225882781 (NC_000006.12:54371110::TGTGTG 325/137380)...

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

Submission ignored due to conflicting rows:
Row 225882779 (NC_000006.12:54371110::TG 44845/137238)
Row 225882780 (NC_000006.12:54371110::TGTG 9330/137316)
Row 225882781 (NC_000006.12:54371110::TGTGTG 325/137380)...

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

Submission ignored due to conflicting rows:
Row 225882779 (NC_000006.12:54371110::TG 44845/137238)
Row 225882780 (NC_000006.12:54371110::TGTG 9330/137316)
Row 225882781 (NC_000006.12:54371110::TGTGTG 325/137380)...

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

Submission ignored due to conflicting rows:
Row 225882779 (NC_000006.12:54371110::TG 44845/137238)
Row 225882780 (NC_000006.12:54371110::TGTG 9330/137316)
Row 225882781 (NC_000006.12:54371110::TGTGTG 325/137380)...

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

Submission ignored due to conflicting rows:
Row 225882779 (NC_000006.12:54371110::TG 44845/137238)
Row 225882780 (NC_000006.12:54371110::TGTG 9330/137316)
Row 225882781 (NC_000006.12:54371110::TGTGTG 325/137380)...

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

Submission ignored due to conflicting rows:
Row 225882779 (NC_000006.12:54371110::TG 44845/137238)
Row 225882780 (NC_000006.12:54371110::TGTG 9330/137316)
Row 225882781 (NC_000006.12:54371110::TGTGTG 325/137380)...

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

Submission ignored due to conflicting rows:
Row 225882779 (NC_000006.12:54371110::TG 44845/137238)
Row 225882780 (NC_000006.12:54371110::TGTG 9330/137316)
Row 225882781 (NC_000006.12:54371110::TGTGTG 325/137380)...

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

Submission ignored due to conflicting rows:
Row 225882779 (NC_000006.12:54371110::TG 44845/137238)
Row 225882780 (NC_000006.12:54371110::TGTG 9330/137316)
Row 225882781 (NC_000006.12:54371110::TGTGTG 325/137380)...

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

Submission ignored due to conflicting rows:
Row 225882779 (NC_000006.12:54371110::TG 44845/137238)
Row 225882780 (NC_000006.12:54371110::TGTG 9330/137316)
Row 225882781 (NC_000006.12:54371110::TGTGTG 325/137380)...

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

Submission ignored due to conflicting rows:
Row 15454401 (NC_000006.12:54371112:TGTG: 30/1832)
Row 15454402 (NC_000006.12:54371114:TG: 275/1832)
Row 15454403 (NC_000006.12:54371116::TG 469/1832)...

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

Submission ignored due to conflicting rows:
Row 15454401 (NC_000006.12:54371112:TGTG: 30/1832)
Row 15454402 (NC_000006.12:54371114:TG: 275/1832)
Row 15454403 (NC_000006.12:54371116::TG 469/1832)...

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

Submission ignored due to conflicting rows:
Row 15454401 (NC_000006.12:54371112:TGTG: 30/1832)
Row 15454402 (NC_000006.12:54371114:TG: 275/1832)
Row 15454403 (NC_000006.12:54371116::TG 469/1832)...

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

Submission ignored due to conflicting rows:
Row 15454401 (NC_000006.12:54371112:TGTG: 30/1832)
Row 15454402 (NC_000006.12:54371114:TG: 275/1832)
Row 15454403 (NC_000006.12:54371116::TG 469/1832)...

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

Submission ignored due to conflicting rows:
Row 15454401 (NC_000006.12:54371112:TGTG: 30/1832)
Row 15454402 (NC_000006.12:54371114:TG: 275/1832)
Row 15454403 (NC_000006.12:54371116::TG 469/1832)...

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

Submission ignored due to conflicting rows:
Row 15454401 (NC_000006.12:54371112:TGTG: 30/1832)
Row 15454402 (NC_000006.12:54371114:TG: 275/1832)
Row 15454403 (NC_000006.12:54371116::TG 469/1832)...

- Apr 26, 2020 (154)
98 8.3KJPN

Submission ignored due to conflicting rows:
Row 35571629 (NC_000006.11:54235908::TG 4234/16756)
Row 35571630 (NC_000006.11:54235908:TG: 977/16756)
Row 35571631 (NC_000006.11:54235908:TGTG: 202/16756)...

- Apr 26, 2021 (155)
99 8.3KJPN

Submission ignored due to conflicting rows:
Row 35571629 (NC_000006.11:54235908::TG 4234/16756)
Row 35571630 (NC_000006.11:54235908:TG: 977/16756)
Row 35571631 (NC_000006.11:54235908:TGTG: 202/16756)...

- Apr 26, 2021 (155)
100 8.3KJPN

Submission ignored due to conflicting rows:
Row 35571629 (NC_000006.11:54235908::TG 4234/16756)
Row 35571630 (NC_000006.11:54235908:TG: 977/16756)
Row 35571631 (NC_000006.11:54235908:TGTG: 202/16756)...

- Apr 26, 2021 (155)
101 8.3KJPN

Submission ignored due to conflicting rows:
Row 35571629 (NC_000006.11:54235908::TG 4234/16756)
Row 35571630 (NC_000006.11:54235908:TG: 977/16756)
Row 35571631 (NC_000006.11:54235908:TGTG: 202/16756)...

- Apr 26, 2021 (155)
102 8.3KJPN

Submission ignored due to conflicting rows:
Row 35571629 (NC_000006.11:54235908::TG 4234/16756)
Row 35571630 (NC_000006.11:54235908:TG: 977/16756)
Row 35571631 (NC_000006.11:54235908:TGTG: 202/16756)...

- Apr 26, 2021 (155)
103 8.3KJPN

Submission ignored due to conflicting rows:
Row 35571629 (NC_000006.11:54235908::TG 4234/16756)
Row 35571630 (NC_000006.11:54235908:TG: 977/16756)
Row 35571631 (NC_000006.11:54235908:TGTG: 202/16756)...

- Apr 26, 2021 (155)
104 14KJPN

Submission ignored due to conflicting rows:
Row 49517037 (NC_000006.12:54371110:TG: 1596/28258)
Row 49517038 (NC_000006.12:54371110::TG 7150/28258)
Row 49517039 (NC_000006.12:54371110::TGTG 244/28258)...

- Oct 17, 2022 (156)
105 14KJPN

Submission ignored due to conflicting rows:
Row 49517037 (NC_000006.12:54371110:TG: 1596/28258)
Row 49517038 (NC_000006.12:54371110::TG 7150/28258)
Row 49517039 (NC_000006.12:54371110::TGTG 244/28258)...

- Oct 17, 2022 (156)
106 14KJPN

Submission ignored due to conflicting rows:
Row 49517037 (NC_000006.12:54371110:TG: 1596/28258)
Row 49517038 (NC_000006.12:54371110::TG 7150/28258)
Row 49517039 (NC_000006.12:54371110::TGTG 244/28258)...

- Oct 17, 2022 (156)
107 14KJPN

Submission ignored due to conflicting rows:
Row 49517037 (NC_000006.12:54371110:TG: 1596/28258)
Row 49517038 (NC_000006.12:54371110::TG 7150/28258)
Row 49517039 (NC_000006.12:54371110::TGTG 244/28258)...

- Oct 17, 2022 (156)
108 14KJPN

Submission ignored due to conflicting rows:
Row 49517037 (NC_000006.12:54371110:TG: 1596/28258)
Row 49517038 (NC_000006.12:54371110::TG 7150/28258)
Row 49517039 (NC_000006.12:54371110::TGTG 244/28258)...

- Oct 17, 2022 (156)
109 14KJPN

Submission ignored due to conflicting rows:
Row 49517037 (NC_000006.12:54371110:TG: 1596/28258)
Row 49517038 (NC_000006.12:54371110::TG 7150/28258)
Row 49517039 (NC_000006.12:54371110::TGTG 244/28258)...

- Oct 17, 2022 (156)
110 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 17855978 (NC_000006.11:54235908::TG 1354/3708)
Row 17855979 (NC_000006.11:54235908:TG: 1099/3708)

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

Submission ignored due to conflicting rows:
Row 17855978 (NC_000006.11:54235908::TG 1354/3708)
Row 17855979 (NC_000006.11:54235908:TG: 1099/3708)

- Oct 12, 2018 (152)
112 ALFA NC_000006.12 - 54371111 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)
rs145629780 May 11, 2012 (137)
rs371967071 May 13, 2013 (138)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss2999100501 NC_000006.11:54235908:TGTGTGTGTGTG…

NC_000006.11:54235908:TGTGTGTGTGTGTG:

NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT

(self)
ss3717255465, ss4142158762 NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTG:

NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT

(self)
13413710236 NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT

NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT

(self)
ss4142158761 NC_000006.12:54371110:TGTGTGTGTGTG: NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT

(self)
13413710236 NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT

NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT

(self)
ss551617005 NC_000006.10:54343867:TGTGTGTGTG: NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT

(self)
ss4142158760, ss5268527041, ss5466191449 NC_000006.12:54371110:TGTGTGTGTG: NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT

(self)
13413710236 NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT

NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT

(self)
ss3717255466 NC_000006.12:54371114:TGTGTGTGTG: NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT

(self)
ss4142158759 NC_000006.12:54371110:TGTGTGTG: NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT

(self)
13413710236 NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT

NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT

(self)
ss5177602327 NC_000006.11:54235908:TGTGTG: NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT

(self)
ss3959076404, ss4142158758, ss5715679938 NC_000006.12:54371110:TGTGTG: NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT

(self)
13413710236 NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT

NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT

(self)
ss327102719, ss551802002 NC_000006.10:54343867:TGTG: NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss5177602324 NC_000006.11:54235908:TGTG: NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss3066082119, ss4142158757, ss5268527039, ss5466191448, ss5715679936 NC_000006.12:54371110:TGTG: NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT

(self)
13413710236 NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT

NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss3959076400 NC_000006.12:54371112:TGTG: NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss3717255467 NC_000006.12:54371120:TGTG: NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss82255146 NC_000006.9:54343894:GT: NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss288730111, ss326805712, ss553248838 NC_000006.10:54343867:TG: NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss666355067, ss1705171403, ss1705171641, ss3829934518, ss5177602323, ss5842274316 NC_000006.11:54235908:TG: NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss4142158756, ss5268527038, ss5466191445, ss5715679933 NC_000006.12:54371110:TG: NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
13413710236 NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT

NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss3959076401 NC_000006.12:54371114:TG: NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss3717255468 NC_000006.12:54371122:TG: NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss326853454 NC_000006.10:54343867::TG NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss663702911, ss3785481383, ss3790831209, ss3795709930, ss5177602322, ss5842274315 NC_000006.11:54235908::TG NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss1710271192, ss1710271318 NC_000006.11:54235910::TG NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss3066082120, ss3808195030, ss4142158749, ss5268527037, ss5466191446, ss5715679934 NC_000006.12:54371110::TG NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
13413710236 NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss3959076402 NC_000006.12:54371116::TG NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss3717255469 NC_000006.12:54371124::TG NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss3648355993 NC_000006.12:54371129::GT NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss5177602325 NC_000006.11:54235908::TGTG NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss4142158750, ss5268527040, ss5466191447, ss5715679935 NC_000006.12:54371110::TGTG NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
13413710236 NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss3959076403 NC_000006.12:54371116::TGTG NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss3717255470 NC_000006.12:54371124::TGTG NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss3648355994 NC_000006.12:54371130::TGTG NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss95429099 NT_007592.15:54175937::GTGT NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss193863033 NT_007592.16:54311110::TGTG NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss5177602326 NC_000006.11:54235908::TGTGTG NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss4142158751, ss5715679937 NC_000006.12:54371110::TGTGTG NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
13413710236 NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss3959076405 NC_000006.12:54371116::TGTGTG NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss4142158752 NC_000006.12:54371110::TGTGTGTG NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
13413710236 NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss4142158753, ss5268527042 NC_000006.12:54371110::TGTGTGTGTG NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
13413710236 NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss4142158754 NC_000006.12:54371110::TGTGTGTGTGTG NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
13413710236 NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
13413710236 NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

NC_000006.12:54371110:TGTGTGTGTGTG…

NC_000006.12:54371110:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
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 rs70983416

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