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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.

rs980799980

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:105030593-105030613 (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)12 / del(T)11 / del(T)10 / d…

del(T)12 / del(T)11 / del(T)10 / del(T)9 / 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 / dup(T)21

Variation Type
Indel Insertion and Deletion
Frequency
delT=0.02957 (407/13764, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LIN28B : 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 13764 TTTTTTTTTTTTTTTTTTTTT=0.94057 TTTTTTTTT=0.00000, TTTTTTTTTT=0.00000, TTTTTTTTTTT=0.00000, TTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTT=0.00334, TTTTTTTTTTTTTTTTTTTT=0.02957, TTTTTTTTTTTTTTTTTTTTTTTTT=0.01453, TTTTTTTTTTTTTTTTTTTTTTTT=0.00480, TTTTTTTTTTTTTTTTTTTTTT=0.00436, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00283, TTTTTTTTTTTTTTTTTTTTTTT=0.00000 0.944351 0.002599 0.05305 14
European Sub 11532 TTTTTTTTTTTTTTTTTTTTT=0.92907 TTTTTTTTT=0.00000, TTTTTTTTTT=0.00000, TTTTTTTTTTT=0.00000, TTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTT=0.00399, TTTTTTTTTTTTTTTTTTTT=0.03529, TTTTTTTTTTTTTTTTTTTTTTTTT=0.01734, TTTTTTTTTTTTTTTTTTTTTTTT=0.00572, TTTTTTTTTTTTTTTTTTTTTT=0.00520, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00338, TTTTTTTTTTTTTTTTTTTTTTT=0.00000 0.932903 0.003134 0.063963 10
African Sub 1404 TTTTTTTTTTTTTTTTTTTTT=1.0000 TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000 1.0 0.0 0.0 N/A
African Others Sub 60 TTTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
African American Sub 1344 TTTTTTTTTTTTTTTTTTTTT=1.0000 TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000 1.0 0.0 0.0 N/A
Asian Sub 76 TTTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
East Asian Sub 58 TTTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 18 TTTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 92 TTTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 288 TTTTTTTTTTTTTTTTTTTTT=1.000 TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
South Asian Sub 60 TTTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Other Sub 312 TTTTTTTTTTTTTTTTTTTTT=1.000 TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A


Help

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

Download
Study Population Group Sample Size Ref Allele Alt Allele
Allele Frequency Aggregator Total Global 13764 (T)21=0.94057 del(T)12=0.00000, del(T)11=0.00000, del(T)10=0.00000, del(T)9=0.00000, del(T)7=0.00000, del(T)6=0.00000, del(T)5=0.00000, del(T)4=0.00000, delTTT=0.00000, delTT=0.00334, delT=0.02957, dupT=0.00436, dupTT=0.00000, dupTTT=0.00480, dup(T)4=0.01453, dup(T)8=0.00283
Allele Frequency Aggregator European Sub 11532 (T)21=0.92907 del(T)12=0.00000, del(T)11=0.00000, del(T)10=0.00000, del(T)9=0.00000, del(T)7=0.00000, del(T)6=0.00000, del(T)5=0.00000, del(T)4=0.00000, delTTT=0.00000, delTT=0.00399, delT=0.03529, dupT=0.00520, dupTT=0.00000, dupTTT=0.00572, dup(T)4=0.01734, dup(T)8=0.00338
Allele Frequency Aggregator African Sub 1404 (T)21=1.0000 del(T)12=0.0000, del(T)11=0.0000, del(T)10=0.0000, del(T)9=0.0000, del(T)7=0.0000, del(T)6=0.0000, del(T)5=0.0000, del(T)4=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000, dup(T)4=0.0000, dup(T)8=0.0000
Allele Frequency Aggregator Other Sub 312 (T)21=1.000 del(T)12=0.000, del(T)11=0.000, del(T)10=0.000, del(T)9=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)4=0.000, dup(T)8=0.000
Allele Frequency Aggregator Latin American 2 Sub 288 (T)21=1.000 del(T)12=0.000, del(T)11=0.000, del(T)10=0.000, del(T)9=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)4=0.000, dup(T)8=0.000
Allele Frequency Aggregator Latin American 1 Sub 92 (T)21=1.00 del(T)12=0.00, del(T)11=0.00, del(T)10=0.00, del(T)9=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)4=0.00, dup(T)8=0.00
Allele Frequency Aggregator Asian Sub 76 (T)21=1.00 del(T)12=0.00, del(T)11=0.00, del(T)10=0.00, del(T)9=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)4=0.00, dup(T)8=0.00
Allele Frequency Aggregator South Asian Sub 60 (T)21=1.00 del(T)12=0.00, del(T)11=0.00, del(T)10=0.00, del(T)9=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)4=0.00, dup(T)8=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 6 NC_000006.12:g.105030602_105030613del
GRCh38.p14 chr 6 NC_000006.12:g.105030603_105030613del
GRCh38.p14 chr 6 NC_000006.12:g.105030604_105030613del
GRCh38.p14 chr 6 NC_000006.12:g.105030605_105030613del
GRCh38.p14 chr 6 NC_000006.12:g.105030607_105030613del
GRCh38.p14 chr 6 NC_000006.12:g.105030608_105030613del
GRCh38.p14 chr 6 NC_000006.12:g.105030609_105030613del
GRCh38.p14 chr 6 NC_000006.12:g.105030610_105030613del
GRCh38.p14 chr 6 NC_000006.12:g.105030611_105030613del
GRCh38.p14 chr 6 NC_000006.12:g.105030612_105030613del
GRCh38.p14 chr 6 NC_000006.12:g.105030613del
GRCh38.p14 chr 6 NC_000006.12:g.105030613dup
GRCh38.p14 chr 6 NC_000006.12:g.105030612_105030613dup
GRCh38.p14 chr 6 NC_000006.12:g.105030611_105030613dup
GRCh38.p14 chr 6 NC_000006.12:g.105030610_105030613dup
GRCh38.p14 chr 6 NC_000006.12:g.105030609_105030613dup
GRCh38.p14 chr 6 NC_000006.12:g.105030608_105030613dup
GRCh38.p14 chr 6 NC_000006.12:g.105030607_105030613dup
GRCh38.p14 chr 6 NC_000006.12:g.105030606_105030613dup
GRCh38.p14 chr 6 NC_000006.12:g.105030605_105030613dup
GRCh38.p14 chr 6 NC_000006.12:g.105030604_105030613dup
GRCh38.p14 chr 6 NC_000006.12:g.105030603_105030613dup
GRCh38.p14 chr 6 NC_000006.12:g.105030602_105030613dup
GRCh38.p14 chr 6 NC_000006.12:g.105030601_105030613dup
GRCh38.p14 chr 6 NC_000006.12:g.105030600_105030613dup
GRCh38.p14 chr 6 NC_000006.12:g.105030599_105030613dup
GRCh38.p14 chr 6 NC_000006.12:g.105030597_105030613dup
GRCh38.p14 chr 6 NC_000006.12:g.105030593_105030613dup
GRCh37.p13 chr 6 NC_000006.11:g.105478477_105478488del
GRCh37.p13 chr 6 NC_000006.11:g.105478478_105478488del
GRCh37.p13 chr 6 NC_000006.11:g.105478479_105478488del
GRCh37.p13 chr 6 NC_000006.11:g.105478480_105478488del
GRCh37.p13 chr 6 NC_000006.11:g.105478482_105478488del
GRCh37.p13 chr 6 NC_000006.11:g.105478483_105478488del
GRCh37.p13 chr 6 NC_000006.11:g.105478484_105478488del
GRCh37.p13 chr 6 NC_000006.11:g.105478485_105478488del
GRCh37.p13 chr 6 NC_000006.11:g.105478486_105478488del
GRCh37.p13 chr 6 NC_000006.11:g.105478487_105478488del
GRCh37.p13 chr 6 NC_000006.11:g.105478488del
GRCh37.p13 chr 6 NC_000006.11:g.105478488dup
GRCh37.p13 chr 6 NC_000006.11:g.105478487_105478488dup
GRCh37.p13 chr 6 NC_000006.11:g.105478486_105478488dup
GRCh37.p13 chr 6 NC_000006.11:g.105478485_105478488dup
GRCh37.p13 chr 6 NC_000006.11:g.105478484_105478488dup
GRCh37.p13 chr 6 NC_000006.11:g.105478483_105478488dup
GRCh37.p13 chr 6 NC_000006.11:g.105478482_105478488dup
GRCh37.p13 chr 6 NC_000006.11:g.105478481_105478488dup
GRCh37.p13 chr 6 NC_000006.11:g.105478480_105478488dup
GRCh37.p13 chr 6 NC_000006.11:g.105478479_105478488dup
GRCh37.p13 chr 6 NC_000006.11:g.105478478_105478488dup
GRCh37.p13 chr 6 NC_000006.11:g.105478477_105478488dup
GRCh37.p13 chr 6 NC_000006.11:g.105478476_105478488dup
GRCh37.p13 chr 6 NC_000006.11:g.105478475_105478488dup
GRCh37.p13 chr 6 NC_000006.11:g.105478474_105478488dup
GRCh37.p13 chr 6 NC_000006.11:g.105478472_105478488dup
GRCh37.p13 chr 6 NC_000006.11:g.105478468_105478488dup
LIN28B RefSeqGene NG_032815.1:g.78555_78566del
LIN28B RefSeqGene NG_032815.1:g.78556_78566del
LIN28B RefSeqGene NG_032815.1:g.78557_78566del
LIN28B RefSeqGene NG_032815.1:g.78558_78566del
LIN28B RefSeqGene NG_032815.1:g.78560_78566del
LIN28B RefSeqGene NG_032815.1:g.78561_78566del
LIN28B RefSeqGene NG_032815.1:g.78562_78566del
LIN28B RefSeqGene NG_032815.1:g.78563_78566del
LIN28B RefSeqGene NG_032815.1:g.78564_78566del
LIN28B RefSeqGene NG_032815.1:g.78565_78566del
LIN28B RefSeqGene NG_032815.1:g.78566del
LIN28B RefSeqGene NG_032815.1:g.78566dup
LIN28B RefSeqGene NG_032815.1:g.78565_78566dup
LIN28B RefSeqGene NG_032815.1:g.78564_78566dup
LIN28B RefSeqGene NG_032815.1:g.78563_78566dup
LIN28B RefSeqGene NG_032815.1:g.78562_78566dup
LIN28B RefSeqGene NG_032815.1:g.78561_78566dup
LIN28B RefSeqGene NG_032815.1:g.78560_78566dup
LIN28B RefSeqGene NG_032815.1:g.78559_78566dup
LIN28B RefSeqGene NG_032815.1:g.78558_78566dup
LIN28B RefSeqGene NG_032815.1:g.78557_78566dup
LIN28B RefSeqGene NG_032815.1:g.78556_78566dup
LIN28B RefSeqGene NG_032815.1:g.78555_78566dup
LIN28B RefSeqGene NG_032815.1:g.78554_78566dup
LIN28B RefSeqGene NG_032815.1:g.78553_78566dup
LIN28B RefSeqGene NG_032815.1:g.78552_78566dup
LIN28B RefSeqGene NG_032815.1:g.78550_78566dup
LIN28B RefSeqGene NG_032815.1:g.78546_78566dup
Gene: LIN28B, lin-28 homolog B (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LIN28B transcript variant 1 NM_001004317.4:c.383+4120…

NM_001004317.4:c.383+4120_383+4131del

N/A Intron Variant
LIN28B transcript variant X1 XM_006715477.3:c.440+4120…

XM_006715477.3:c.440+4120_440+4131del

N/A Intron Variant
LIN28B transcript variant X2 XM_011535818.4:c.407+4120…

XM_011535818.4:c.407+4120_407+4131del

N/A Intron Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement (T)21= del(T)12 del(T)11 del(T)10 del(T)9 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 dup(T)21
GRCh38.p14 chr 6 NC_000006.12:g.105030593_105030613= NC_000006.12:g.105030602_105030613del NC_000006.12:g.105030603_105030613del NC_000006.12:g.105030604_105030613del NC_000006.12:g.105030605_105030613del NC_000006.12:g.105030607_105030613del NC_000006.12:g.105030608_105030613del NC_000006.12:g.105030609_105030613del NC_000006.12:g.105030610_105030613del NC_000006.12:g.105030611_105030613del NC_000006.12:g.105030612_105030613del NC_000006.12:g.105030613del NC_000006.12:g.105030613dup NC_000006.12:g.105030612_105030613dup NC_000006.12:g.105030611_105030613dup NC_000006.12:g.105030610_105030613dup NC_000006.12:g.105030609_105030613dup NC_000006.12:g.105030608_105030613dup NC_000006.12:g.105030607_105030613dup NC_000006.12:g.105030606_105030613dup NC_000006.12:g.105030605_105030613dup NC_000006.12:g.105030604_105030613dup NC_000006.12:g.105030603_105030613dup NC_000006.12:g.105030602_105030613dup NC_000006.12:g.105030601_105030613dup NC_000006.12:g.105030600_105030613dup NC_000006.12:g.105030599_105030613dup NC_000006.12:g.105030597_105030613dup NC_000006.12:g.105030593_105030613dup
GRCh37.p13 chr 6 NC_000006.11:g.105478468_105478488= NC_000006.11:g.105478477_105478488del NC_000006.11:g.105478478_105478488del NC_000006.11:g.105478479_105478488del NC_000006.11:g.105478480_105478488del NC_000006.11:g.105478482_105478488del NC_000006.11:g.105478483_105478488del NC_000006.11:g.105478484_105478488del NC_000006.11:g.105478485_105478488del NC_000006.11:g.105478486_105478488del NC_000006.11:g.105478487_105478488del NC_000006.11:g.105478488del NC_000006.11:g.105478488dup NC_000006.11:g.105478487_105478488dup NC_000006.11:g.105478486_105478488dup NC_000006.11:g.105478485_105478488dup NC_000006.11:g.105478484_105478488dup NC_000006.11:g.105478483_105478488dup NC_000006.11:g.105478482_105478488dup NC_000006.11:g.105478481_105478488dup NC_000006.11:g.105478480_105478488dup NC_000006.11:g.105478479_105478488dup NC_000006.11:g.105478478_105478488dup NC_000006.11:g.105478477_105478488dup NC_000006.11:g.105478476_105478488dup NC_000006.11:g.105478475_105478488dup NC_000006.11:g.105478474_105478488dup NC_000006.11:g.105478472_105478488dup NC_000006.11:g.105478468_105478488dup
LIN28B RefSeqGene NG_032815.1:g.78546_78566= NG_032815.1:g.78555_78566del NG_032815.1:g.78556_78566del NG_032815.1:g.78557_78566del NG_032815.1:g.78558_78566del NG_032815.1:g.78560_78566del NG_032815.1:g.78561_78566del NG_032815.1:g.78562_78566del NG_032815.1:g.78563_78566del NG_032815.1:g.78564_78566del NG_032815.1:g.78565_78566del NG_032815.1:g.78566del NG_032815.1:g.78566dup NG_032815.1:g.78565_78566dup NG_032815.1:g.78564_78566dup NG_032815.1:g.78563_78566dup NG_032815.1:g.78562_78566dup NG_032815.1:g.78561_78566dup NG_032815.1:g.78560_78566dup NG_032815.1:g.78559_78566dup NG_032815.1:g.78558_78566dup NG_032815.1:g.78557_78566dup NG_032815.1:g.78556_78566dup NG_032815.1:g.78555_78566dup NG_032815.1:g.78554_78566dup NG_032815.1:g.78553_78566dup NG_032815.1:g.78552_78566dup NG_032815.1:g.78550_78566dup NG_032815.1:g.78546_78566dup
LIN28B transcript NM_001004317.3:c.383+4111= NM_001004317.3:c.383+4120_383+4131del NM_001004317.3:c.383+4121_383+4131del NM_001004317.3:c.383+4122_383+4131del NM_001004317.3:c.383+4123_383+4131del NM_001004317.3:c.383+4125_383+4131del NM_001004317.3:c.383+4126_383+4131del NM_001004317.3:c.383+4127_383+4131del NM_001004317.3:c.383+4128_383+4131del NM_001004317.3:c.383+4129_383+4131del NM_001004317.3:c.383+4130_383+4131del NM_001004317.3:c.383+4131del NM_001004317.3:c.383+4131dup NM_001004317.3:c.383+4130_383+4131dup NM_001004317.3:c.383+4129_383+4131dup NM_001004317.3:c.383+4128_383+4131dup NM_001004317.3:c.383+4127_383+4131dup NM_001004317.3:c.383+4126_383+4131dup NM_001004317.3:c.383+4125_383+4131dup NM_001004317.3:c.383+4124_383+4131dup NM_001004317.3:c.383+4123_383+4131dup NM_001004317.3:c.383+4122_383+4131dup NM_001004317.3:c.383+4121_383+4131dup NM_001004317.3:c.383+4120_383+4131dup NM_001004317.3:c.383+4119_383+4131dup NM_001004317.3:c.383+4118_383+4131dup NM_001004317.3:c.383+4117_383+4131dup NM_001004317.3:c.383+4115_383+4131dup NM_001004317.3:c.383+4111_383+4131dup
LIN28B transcript variant 1 NM_001004317.4:c.383+4111= NM_001004317.4:c.383+4120_383+4131del NM_001004317.4:c.383+4121_383+4131del NM_001004317.4:c.383+4122_383+4131del NM_001004317.4:c.383+4123_383+4131del NM_001004317.4:c.383+4125_383+4131del NM_001004317.4:c.383+4126_383+4131del NM_001004317.4:c.383+4127_383+4131del NM_001004317.4:c.383+4128_383+4131del NM_001004317.4:c.383+4129_383+4131del NM_001004317.4:c.383+4130_383+4131del NM_001004317.4:c.383+4131del NM_001004317.4:c.383+4131dup NM_001004317.4:c.383+4130_383+4131dup NM_001004317.4:c.383+4129_383+4131dup NM_001004317.4:c.383+4128_383+4131dup NM_001004317.4:c.383+4127_383+4131dup NM_001004317.4:c.383+4126_383+4131dup NM_001004317.4:c.383+4125_383+4131dup NM_001004317.4:c.383+4124_383+4131dup NM_001004317.4:c.383+4123_383+4131dup NM_001004317.4:c.383+4122_383+4131dup NM_001004317.4:c.383+4121_383+4131dup NM_001004317.4:c.383+4120_383+4131dup NM_001004317.4:c.383+4119_383+4131dup NM_001004317.4:c.383+4118_383+4131dup NM_001004317.4:c.383+4117_383+4131dup NM_001004317.4:c.383+4115_383+4131dup NM_001004317.4:c.383+4111_383+4131dup
LIN28B transcript variant X1 XM_005266975.1:c.440+4111= XM_005266975.1:c.440+4120_440+4131del XM_005266975.1:c.440+4121_440+4131del XM_005266975.1:c.440+4122_440+4131del XM_005266975.1:c.440+4123_440+4131del XM_005266975.1:c.440+4125_440+4131del XM_005266975.1:c.440+4126_440+4131del XM_005266975.1:c.440+4127_440+4131del XM_005266975.1:c.440+4128_440+4131del XM_005266975.1:c.440+4129_440+4131del XM_005266975.1:c.440+4130_440+4131del XM_005266975.1:c.440+4131del XM_005266975.1:c.440+4131dup XM_005266975.1:c.440+4130_440+4131dup XM_005266975.1:c.440+4129_440+4131dup XM_005266975.1:c.440+4128_440+4131dup XM_005266975.1:c.440+4127_440+4131dup XM_005266975.1:c.440+4126_440+4131dup XM_005266975.1:c.440+4125_440+4131dup XM_005266975.1:c.440+4124_440+4131dup XM_005266975.1:c.440+4123_440+4131dup XM_005266975.1:c.440+4122_440+4131dup XM_005266975.1:c.440+4121_440+4131dup XM_005266975.1:c.440+4120_440+4131dup XM_005266975.1:c.440+4119_440+4131dup XM_005266975.1:c.440+4118_440+4131dup XM_005266975.1:c.440+4117_440+4131dup XM_005266975.1:c.440+4115_440+4131dup XM_005266975.1:c.440+4111_440+4131dup
LIN28B transcript variant X1 XM_006715477.3:c.440+4111= XM_006715477.3:c.440+4120_440+4131del XM_006715477.3:c.440+4121_440+4131del XM_006715477.3:c.440+4122_440+4131del XM_006715477.3:c.440+4123_440+4131del XM_006715477.3:c.440+4125_440+4131del XM_006715477.3:c.440+4126_440+4131del XM_006715477.3:c.440+4127_440+4131del XM_006715477.3:c.440+4128_440+4131del XM_006715477.3:c.440+4129_440+4131del XM_006715477.3:c.440+4130_440+4131del XM_006715477.3:c.440+4131del XM_006715477.3:c.440+4131dup XM_006715477.3:c.440+4130_440+4131dup XM_006715477.3:c.440+4129_440+4131dup XM_006715477.3:c.440+4128_440+4131dup XM_006715477.3:c.440+4127_440+4131dup XM_006715477.3:c.440+4126_440+4131dup XM_006715477.3:c.440+4125_440+4131dup XM_006715477.3:c.440+4124_440+4131dup XM_006715477.3:c.440+4123_440+4131dup XM_006715477.3:c.440+4122_440+4131dup XM_006715477.3:c.440+4121_440+4131dup XM_006715477.3:c.440+4120_440+4131dup XM_006715477.3:c.440+4119_440+4131dup XM_006715477.3:c.440+4118_440+4131dup XM_006715477.3:c.440+4117_440+4131dup XM_006715477.3:c.440+4115_440+4131dup XM_006715477.3:c.440+4111_440+4131dup
LIN28B transcript variant X2 XM_011535818.4:c.407+4111= XM_011535818.4:c.407+4120_407+4131del XM_011535818.4:c.407+4121_407+4131del XM_011535818.4:c.407+4122_407+4131del XM_011535818.4:c.407+4123_407+4131del XM_011535818.4:c.407+4125_407+4131del XM_011535818.4:c.407+4126_407+4131del XM_011535818.4:c.407+4127_407+4131del XM_011535818.4:c.407+4128_407+4131del XM_011535818.4:c.407+4129_407+4131del XM_011535818.4:c.407+4130_407+4131del XM_011535818.4:c.407+4131del XM_011535818.4:c.407+4131dup XM_011535818.4:c.407+4130_407+4131dup XM_011535818.4:c.407+4129_407+4131dup XM_011535818.4:c.407+4128_407+4131dup XM_011535818.4:c.407+4127_407+4131dup XM_011535818.4:c.407+4126_407+4131dup XM_011535818.4:c.407+4125_407+4131dup XM_011535818.4:c.407+4124_407+4131dup XM_011535818.4:c.407+4123_407+4131dup XM_011535818.4:c.407+4122_407+4131dup XM_011535818.4:c.407+4121_407+4131dup XM_011535818.4:c.407+4120_407+4131dup XM_011535818.4:c.407+4119_407+4131dup XM_011535818.4:c.407+4118_407+4131dup XM_011535818.4:c.407+4117_407+4131dup XM_011535818.4:c.407+4115_407+4131dup XM_011535818.4:c.407+4111_407+4131dup
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#.

53 SubSNP, 39 Frequency submissions
No Submitter Submission ID Date (Build)
1 SWEGEN ss2999688710 Jan 10, 2018 (151)
2 PACBIO ss3790912770 Jul 13, 2019 (153)
3 PACBIO ss3790912771 Jul 13, 2019 (153)
4 PACBIO ss3795791931 Jul 13, 2019 (153)
5 PACBIO ss3795791932 Jul 13, 2019 (153)
6 EVA ss3830115214 Apr 26, 2020 (154)
7 GNOMAD ss4148462493 Apr 26, 2021 (155)
8 GNOMAD ss4148462494 Apr 26, 2021 (155)
9 GNOMAD ss4148462495 Apr 26, 2021 (155)
10 GNOMAD ss4148462497 Apr 26, 2021 (155)
11 GNOMAD ss4148462498 Apr 26, 2021 (155)
12 GNOMAD ss4148462499 Apr 26, 2021 (155)
13 GNOMAD ss4148462500 Apr 26, 2021 (155)
14 GNOMAD ss4148462501 Apr 26, 2021 (155)
15 GNOMAD ss4148462502 Apr 26, 2021 (155)
16 GNOMAD ss4148462503 Apr 26, 2021 (155)
17 GNOMAD ss4148462504 Apr 26, 2021 (155)
18 GNOMAD ss4148462505 Apr 26, 2021 (155)
19 GNOMAD ss4148462506 Apr 26, 2021 (155)
20 GNOMAD ss4148462507 Apr 26, 2021 (155)
21 GNOMAD ss4148462508 Apr 26, 2021 (155)
22 GNOMAD ss4148462509 Apr 26, 2021 (155)
23 GNOMAD ss4148462510 Apr 26, 2021 (155)
24 GNOMAD ss4148462511 Apr 26, 2021 (155)
25 GNOMAD ss4148462512 Apr 26, 2021 (155)
26 GNOMAD ss4148462513 Apr 26, 2021 (155)
27 GNOMAD ss4148462514 Apr 26, 2021 (155)
28 GNOMAD ss4148462515 Apr 26, 2021 (155)
29 GNOMAD ss4148462516 Apr 26, 2021 (155)
30 TOPMED ss4716117441 Apr 26, 2021 (155)
31 TOPMED ss4716117442 Apr 26, 2021 (155)
32 TOPMED ss4716117443 Apr 26, 2021 (155)
33 TOMMO_GENOMICS ss5179187743 Apr 26, 2021 (155)
34 TOMMO_GENOMICS ss5179187744 Apr 26, 2021 (155)
35 TOMMO_GENOMICS ss5179187745 Apr 26, 2021 (155)
36 TOMMO_GENOMICS ss5179187746 Apr 26, 2021 (155)
37 TOMMO_GENOMICS ss5179187747 Apr 26, 2021 (155)
38 1000G_HIGH_COVERAGE ss5269773810 Oct 13, 2022 (156)
39 1000G_HIGH_COVERAGE ss5269773811 Oct 13, 2022 (156)
40 1000G_HIGH_COVERAGE ss5269773812 Oct 13, 2022 (156)
41 HUGCELL_USP ss5467271577 Oct 13, 2022 (156)
42 HUGCELL_USP ss5467271578 Oct 13, 2022 (156)
43 HUGCELL_USP ss5467271579 Oct 13, 2022 (156)
44 HUGCELL_USP ss5467271580 Oct 13, 2022 (156)
45 HUGCELL_USP ss5467271581 Oct 13, 2022 (156)
46 HUGCELL_USP ss5467271582 Oct 13, 2022 (156)
47 TOMMO_GENOMICS ss5717858769 Oct 13, 2022 (156)
48 TOMMO_GENOMICS ss5717858770 Oct 13, 2022 (156)
49 TOMMO_GENOMICS ss5717858771 Oct 13, 2022 (156)
50 TOMMO_GENOMICS ss5717858772 Oct 13, 2022 (156)
51 TOMMO_GENOMICS ss5717858773 Oct 13, 2022 (156)
52 TOMMO_GENOMICS ss5717858774 Oct 13, 2022 (156)
53 EVA ss5842766676 Oct 13, 2022 (156)
54 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 236285929 (NC_000006.12:105030592::T 2700/97700)
Row 236285930 (NC_000006.12:105030592::TT 325/97714)
Row 236285931 (NC_000006.12:105030592::TTT 284/97604)...

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

Submission ignored due to conflicting rows:
Row 236285929 (NC_000006.12:105030592::T 2700/97700)
Row 236285930 (NC_000006.12:105030592::TT 325/97714)
Row 236285931 (NC_000006.12:105030592::TTT 284/97604)...

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

Submission ignored due to conflicting rows:
Row 236285929 (NC_000006.12:105030592::T 2700/97700)
Row 236285930 (NC_000006.12:105030592::TT 325/97714)
Row 236285931 (NC_000006.12:105030592::TTT 284/97604)...

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

Submission ignored due to conflicting rows:
Row 236285929 (NC_000006.12:105030592::T 2700/97700)
Row 236285930 (NC_000006.12:105030592::TT 325/97714)
Row 236285931 (NC_000006.12:105030592::TTT 284/97604)...

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

Submission ignored due to conflicting rows:
Row 236285929 (NC_000006.12:105030592::T 2700/97700)
Row 236285930 (NC_000006.12:105030592::TT 325/97714)
Row 236285931 (NC_000006.12:105030592::TTT 284/97604)...

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

Submission ignored due to conflicting rows:
Row 236285929 (NC_000006.12:105030592::T 2700/97700)
Row 236285930 (NC_000006.12:105030592::TT 325/97714)
Row 236285931 (NC_000006.12:105030592::TTT 284/97604)...

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

Submission ignored due to conflicting rows:
Row 236285929 (NC_000006.12:105030592::T 2700/97700)
Row 236285930 (NC_000006.12:105030592::TT 325/97714)
Row 236285931 (NC_000006.12:105030592::TTT 284/97604)...

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

Submission ignored due to conflicting rows:
Row 236285929 (NC_000006.12:105030592::T 2700/97700)
Row 236285930 (NC_000006.12:105030592::TT 325/97714)
Row 236285931 (NC_000006.12:105030592::TTT 284/97604)...

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

Submission ignored due to conflicting rows:
Row 236285929 (NC_000006.12:105030592::T 2700/97700)
Row 236285930 (NC_000006.12:105030592::TT 325/97714)
Row 236285931 (NC_000006.12:105030592::TTT 284/97604)...

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

Submission ignored due to conflicting rows:
Row 236285929 (NC_000006.12:105030592::T 2700/97700)
Row 236285930 (NC_000006.12:105030592::TT 325/97714)
Row 236285931 (NC_000006.12:105030592::TTT 284/97604)...

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

Submission ignored due to conflicting rows:
Row 236285929 (NC_000006.12:105030592::T 2700/97700)
Row 236285930 (NC_000006.12:105030592::TT 325/97714)
Row 236285931 (NC_000006.12:105030592::TTT 284/97604)...

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

Submission ignored due to conflicting rows:
Row 236285929 (NC_000006.12:105030592::T 2700/97700)
Row 236285930 (NC_000006.12:105030592::TT 325/97714)
Row 236285931 (NC_000006.12:105030592::TTT 284/97604)...

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

Submission ignored due to conflicting rows:
Row 236285929 (NC_000006.12:105030592::T 2700/97700)
Row 236285930 (NC_000006.12:105030592::TT 325/97714)
Row 236285931 (NC_000006.12:105030592::TTT 284/97604)...

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

Submission ignored due to conflicting rows:
Row 236285929 (NC_000006.12:105030592::T 2700/97700)
Row 236285930 (NC_000006.12:105030592::TT 325/97714)
Row 236285931 (NC_000006.12:105030592::TTT 284/97604)...

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

Submission ignored due to conflicting rows:
Row 236285929 (NC_000006.12:105030592::T 2700/97700)
Row 236285930 (NC_000006.12:105030592::TT 325/97714)
Row 236285931 (NC_000006.12:105030592::TTT 284/97604)...

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

Submission ignored due to conflicting rows:
Row 236285929 (NC_000006.12:105030592::T 2700/97700)
Row 236285930 (NC_000006.12:105030592::TT 325/97714)
Row 236285931 (NC_000006.12:105030592::TTT 284/97604)...

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

Submission ignored due to conflicting rows:
Row 236285929 (NC_000006.12:105030592::T 2700/97700)
Row 236285930 (NC_000006.12:105030592::TT 325/97714)
Row 236285931 (NC_000006.12:105030592::TTT 284/97604)...

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

Submission ignored due to conflicting rows:
Row 236285929 (NC_000006.12:105030592::T 2700/97700)
Row 236285930 (NC_000006.12:105030592::TT 325/97714)
Row 236285931 (NC_000006.12:105030592::TTT 284/97604)...

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

Submission ignored due to conflicting rows:
Row 236285929 (NC_000006.12:105030592::T 2700/97700)
Row 236285930 (NC_000006.12:105030592::TT 325/97714)
Row 236285931 (NC_000006.12:105030592::TTT 284/97604)...

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

Submission ignored due to conflicting rows:
Row 236285929 (NC_000006.12:105030592::T 2700/97700)
Row 236285930 (NC_000006.12:105030592::TT 325/97714)
Row 236285931 (NC_000006.12:105030592::TTT 284/97604)...

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

Submission ignored due to conflicting rows:
Row 236285929 (NC_000006.12:105030592::T 2700/97700)
Row 236285930 (NC_000006.12:105030592::TT 325/97714)
Row 236285931 (NC_000006.12:105030592::TTT 284/97604)...

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

Submission ignored due to conflicting rows:
Row 236285929 (NC_000006.12:105030592::T 2700/97700)
Row 236285930 (NC_000006.12:105030592::TT 325/97714)
Row 236285931 (NC_000006.12:105030592::TTT 284/97604)...

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

Submission ignored due to conflicting rows:
Row 236285929 (NC_000006.12:105030592::T 2700/97700)
Row 236285930 (NC_000006.12:105030592::TT 325/97714)
Row 236285931 (NC_000006.12:105030592::TTT 284/97604)...

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

Submission ignored due to conflicting rows:
Row 236285929 (NC_000006.12:105030592::T 2700/97700)
Row 236285930 (NC_000006.12:105030592::TT 325/97714)
Row 236285931 (NC_000006.12:105030592::TTT 284/97604)...

- Apr 26, 2021 (155)
78 8.3KJPN

Submission ignored due to conflicting rows:
Row 37157050 (NC_000006.11:105478467:T: 1617/16662)
Row 37157051 (NC_000006.11:105478467::TTTT 101/16662)
Row 37157052 (NC_000006.11:105478467::T 48/16662)...

- Apr 26, 2021 (155)
79 8.3KJPN

Submission ignored due to conflicting rows:
Row 37157050 (NC_000006.11:105478467:T: 1617/16662)
Row 37157051 (NC_000006.11:105478467::TTTT 101/16662)
Row 37157052 (NC_000006.11:105478467::T 48/16662)...

- Apr 26, 2021 (155)
80 8.3KJPN

Submission ignored due to conflicting rows:
Row 37157050 (NC_000006.11:105478467:T: 1617/16662)
Row 37157051 (NC_000006.11:105478467::TTTT 101/16662)
Row 37157052 (NC_000006.11:105478467::T 48/16662)...

- Apr 26, 2021 (155)
81 8.3KJPN

Submission ignored due to conflicting rows:
Row 37157050 (NC_000006.11:105478467:T: 1617/16662)
Row 37157051 (NC_000006.11:105478467::TTTT 101/16662)
Row 37157052 (NC_000006.11:105478467::T 48/16662)...

- Apr 26, 2021 (155)
82 8.3KJPN

Submission ignored due to conflicting rows:
Row 37157050 (NC_000006.11:105478467:T: 1617/16662)
Row 37157051 (NC_000006.11:105478467::TTTT 101/16662)
Row 37157052 (NC_000006.11:105478467::T 48/16662)...

- Apr 26, 2021 (155)
83 14KJPN

Submission ignored due to conflicting rows:
Row 51695873 (NC_000006.12:105030592:T: 3071/28108)
Row 51695874 (NC_000006.12:105030592::TTTT 71/28108)
Row 51695875 (NC_000006.12:105030592::TTTTTTT 6/28108)...

- Oct 13, 2022 (156)
84 14KJPN

Submission ignored due to conflicting rows:
Row 51695873 (NC_000006.12:105030592:T: 3071/28108)
Row 51695874 (NC_000006.12:105030592::TTTT 71/28108)
Row 51695875 (NC_000006.12:105030592::TTTTTTT 6/28108)...

- Oct 13, 2022 (156)
85 14KJPN

Submission ignored due to conflicting rows:
Row 51695873 (NC_000006.12:105030592:T: 3071/28108)
Row 51695874 (NC_000006.12:105030592::TTTT 71/28108)
Row 51695875 (NC_000006.12:105030592::TTTTTTT 6/28108)...

- Oct 13, 2022 (156)
86 14KJPN

Submission ignored due to conflicting rows:
Row 51695873 (NC_000006.12:105030592:T: 3071/28108)
Row 51695874 (NC_000006.12:105030592::TTTT 71/28108)
Row 51695875 (NC_000006.12:105030592::TTTTTTT 6/28108)...

- Oct 13, 2022 (156)
87 14KJPN

Submission ignored due to conflicting rows:
Row 51695873 (NC_000006.12:105030592:T: 3071/28108)
Row 51695874 (NC_000006.12:105030592::TTTT 71/28108)
Row 51695875 (NC_000006.12:105030592::TTTTTTT 6/28108)...

- Oct 13, 2022 (156)
88 14KJPN

Submission ignored due to conflicting rows:
Row 51695873 (NC_000006.12:105030592:T: 3071/28108)
Row 51695874 (NC_000006.12:105030592::TTTT 71/28108)
Row 51695875 (NC_000006.12:105030592::TTTTTTT 6/28108)...

- Oct 13, 2022 (156)
89 TopMed

Submission ignored due to conflicting rows:
Row 553494999 (NC_000006.12:105030592:TTTTTTTTT: 2/264690)
Row 553495000 (NC_000006.12:105030592:TTTTTTTTTTT: 26/264690)
Row 553495001 (NC_000006.12:105030592:TTTTTTTTTTTT: 26/264690)

- Apr 26, 2021 (155)
90 TopMed

Submission ignored due to conflicting rows:
Row 553494999 (NC_000006.12:105030592:TTTTTTTTT: 2/264690)
Row 553495000 (NC_000006.12:105030592:TTTTTTTTTTT: 26/264690)
Row 553495001 (NC_000006.12:105030592:TTTTTTTTTTTT: 26/264690)

- Apr 26, 2021 (155)
91 TopMed

Submission ignored due to conflicting rows:
Row 553494999 (NC_000006.12:105030592:TTTTTTTTT: 2/264690)
Row 553495000 (NC_000006.12:105030592:TTTTTTTTTTT: 26/264690)
Row 553495001 (NC_000006.12:105030592:TTTTTTTTTTTT: 26/264690)

- Apr 26, 2021 (155)
92 ALFA NC_000006.12 - 105030593 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4148462516, ss4716117443 NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTT:

NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT

(self)
3662054644 NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT

NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT

(self)
ss4148462515, ss4716117442 NC_000006.12:105030592:TTTTTTTTTTT: NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT

(self)
3662054644 NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT

NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT

(self)
3662054644 NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT

NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT

(self)
ss4148462514, ss4716117441 NC_000006.12:105030592:TTTTTTTTT: NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT

(self)
3662054644 NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT

NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT

(self)
ss4148462513 NC_000006.12:105030592:TTTTTTT: NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
3662054644 NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
3662054644 NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss4148462512 NC_000006.12:105030592:TTTTT: NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
3662054644 NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss4148462511 NC_000006.12:105030592:TTTT: NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
3662054644 NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss4148462510, ss5467271582 NC_000006.12:105030592:TTT: NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
3662054644 NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss2999688710, ss3790912770 NC_000006.11:105478467:TT: NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
ss4148462509, ss5467271577 NC_000006.12:105030592:TT: NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
3662054644 NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
ss3790912771, ss3795791931, ss5179187743 NC_000006.11:105478467:T: NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss5269773811, ss5467271578, ss5717858769 NC_000006.12:105030592:T: NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
3662054644 NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss3795791932, ss5179187745, ss5842766676 NC_000006.11:105478467::T NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
ss4148462493, ss5269773810, ss5467271579, ss5717858773 NC_000006.12:105030592::T NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
3662054644 NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
ss3830115214 NC_000006.11:105478467::TT NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4148462494, ss5269773812, ss5467271580 NC_000006.12:105030592::TT NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
3662054644 NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4148462495, ss5467271581 NC_000006.12:105030592::TTT NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

(self)
3662054644 NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss5179187744 NC_000006.11:105478467::TTTT NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss5717858770 NC_000006.12:105030592::TTTT NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

3662054644 NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4148462497 NC_000006.12:105030592::TTTTT NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4148462498 NC_000006.12:105030592::TTTTTT NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4148462499, ss5717858771 NC_000006.12:105030592::TTTTTTT NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss5179187746 NC_000006.11:105478467::TTTTTTTT NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss5717858772 NC_000006.12:105030592::TTTTTTTT NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT

3662054644 NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4148462500 NC_000006.12:105030592::TTTTTTTTT NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4148462501 NC_000006.12:105030592::TTTTTTTTTT NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4148462502 NC_000006.12:105030592::TTTTTTTTTTT NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss5179187747 NC_000006.11:105478467::TTTTTTTTTT…

NC_000006.11:105478467::TTTTTTTTTTTT

NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4148462503, ss5717858774 NC_000006.12:105030592::TTTTTTTTTT…

NC_000006.12:105030592::TTTTTTTTTTTT

NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4148462504 NC_000006.12:105030592::TTTTTTTTTT…

NC_000006.12:105030592::TTTTTTTTTTTTT

NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4148462505 NC_000006.12:105030592::TTTTTTTTTT…

NC_000006.12:105030592::TTTTTTTTTTTTTT

NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4148462506 NC_000006.12:105030592::TTTTTTTTTT…

NC_000006.12:105030592::TTTTTTTTTTTTTTT

NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4148462507 NC_000006.12:105030592::TTTTTTTTTT…

NC_000006.12:105030592::TTTTTTTTTTTTTTTTT

NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4148462508 NC_000006.12:105030592::TTTTTTTTTT…

NC_000006.12:105030592::TTTTTTTTTTTTTTTTTTTTT

NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss2455646390 NC_000006.11:105478467:TTTTTTTTTTT…

NC_000006.11:105478467:TTTTTTTTTTTT:

NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT

ss3507554673 NC_000006.12:105030592:TTTTTTTTTT: NC_000006.12:105030592:TTTTTTTTTTT…

NC_000006.12:105030592:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT

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 rs980799980

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