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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.

rs11383714

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:97719493-97719512 (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(A)12 / del(A)10 / del(A)9 / de…

del(A)12 / del(A)10 / del(A)9 / del(A)8 / del(A)7 / del(A)6 / del(A)5 / del(A)4 / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)4 / dup(A)5 / dup(A)7 / dup(A)8 / dup(A)9 / dup(A)10 / dup(A)11 / dup(A)12 / dup(A)13 / dup(A)14

Variation Type
Indel Insertion and Deletion
Frequency
del(A)12=0.0000 (0/6560, ALFA)
del(A)10=0.0000 (0/6560, ALFA)
del(A)9=0.0000 (0/6560, ALFA) (+ 14 more)
del(A)8=0.0000 (0/6560, ALFA)
del(A)7=0.0000 (0/6560, ALFA)
del(A)6=0.0000 (0/6560, ALFA)
del(A)5=0.0000 (0/6560, ALFA)
del(A)4=0.0000 (0/6560, ALFA)
delAAA=0.0000 (0/6560, ALFA)
delA=0.0000 (0/6560, ALFA)
dupA=0.0000 (0/6560, ALFA)
dupAA=0.0000 (0/6560, ALFA)
dupAAA=0.0000 (0/6560, ALFA)
dup(A)4=0.0000 (0/6560, ALFA)
dup(A)8=0.0000 (0/6560, ALFA)
del(A)4=0.1959 (981/5008, 1000G)
del(A)4=0.12 (5/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MTDH : 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 6560 AAAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
European Sub 5556 AAAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Sub 384 AAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Others Sub 6 AAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
African American Sub 378 AAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Asian Sub 50 AAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
East Asian Sub 42 AAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 8 AAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Latin American 1 Sub 60 AAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 254 AAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 42 AAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 214 AAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=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 6560 (A)20=1.0000 del(A)12=0.0000, del(A)10=0.0000, del(A)9=0.0000, del(A)8=0.0000, del(A)7=0.0000, del(A)6=0.0000, del(A)5=0.0000, del(A)4=0.0000, delAAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)4=0.0000, dup(A)8=0.0000
Allele Frequency Aggregator European Sub 5556 (A)20=1.0000 del(A)12=0.0000, del(A)10=0.0000, del(A)9=0.0000, del(A)8=0.0000, del(A)7=0.0000, del(A)6=0.0000, del(A)5=0.0000, del(A)4=0.0000, delAAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)4=0.0000, dup(A)8=0.0000
Allele Frequency Aggregator African Sub 384 (A)20=1.000 del(A)12=0.000, del(A)10=0.000, del(A)9=0.000, del(A)8=0.000, del(A)7=0.000, del(A)6=0.000, del(A)5=0.000, del(A)4=0.000, delAAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)4=0.000, dup(A)8=0.000
Allele Frequency Aggregator Latin American 2 Sub 254 (A)20=1.000 del(A)12=0.000, del(A)10=0.000, del(A)9=0.000, del(A)8=0.000, del(A)7=0.000, del(A)6=0.000, del(A)5=0.000, del(A)4=0.000, delAAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)4=0.000, dup(A)8=0.000
Allele Frequency Aggregator Other Sub 214 (A)20=1.000 del(A)12=0.000, del(A)10=0.000, del(A)9=0.000, del(A)8=0.000, del(A)7=0.000, del(A)6=0.000, del(A)5=0.000, del(A)4=0.000, delAAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)4=0.000, dup(A)8=0.000
Allele Frequency Aggregator Latin American 1 Sub 60 (A)20=1.00 del(A)12=0.00, del(A)10=0.00, del(A)9=0.00, del(A)8=0.00, del(A)7=0.00, del(A)6=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00, dup(A)8=0.00
Allele Frequency Aggregator Asian Sub 50 (A)20=1.00 del(A)12=0.00, del(A)10=0.00, del(A)9=0.00, del(A)8=0.00, del(A)7=0.00, del(A)6=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00, dup(A)8=0.00
Allele Frequency Aggregator South Asian Sub 42 (A)20=1.00 del(A)12=0.00, del(A)10=0.00, del(A)9=0.00, del(A)8=0.00, del(A)7=0.00, del(A)6=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00, dup(A)8=0.00
1000Genomes Global Study-wide 5008 (A)20=0.8041 del(A)4=0.1959
1000Genomes African Sub 1322 (A)20=0.8570 del(A)4=0.1430
1000Genomes East Asian Sub 1008 (A)20=0.7312 del(A)4=0.2688
1000Genomes Europe Sub 1006 (A)20=0.8738 del(A)4=0.1262
1000Genomes South Asian Sub 978 (A)20=0.792 del(A)4=0.208
1000Genomes American Sub 694 (A)20=0.725 del(A)4=0.275
The Danish reference pan genome Danish Study-wide 40 (A)20=0.88 del(A)4=0.12
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 8 NC_000008.11:g.97719501_97719512del
GRCh38.p14 chr 8 NC_000008.11:g.97719503_97719512del
GRCh38.p14 chr 8 NC_000008.11:g.97719504_97719512del
GRCh38.p14 chr 8 NC_000008.11:g.97719505_97719512del
GRCh38.p14 chr 8 NC_000008.11:g.97719506_97719512del
GRCh38.p14 chr 8 NC_000008.11:g.97719507_97719512del
GRCh38.p14 chr 8 NC_000008.11:g.97719508_97719512del
GRCh38.p14 chr 8 NC_000008.11:g.97719509_97719512del
GRCh38.p14 chr 8 NC_000008.11:g.97719510_97719512del
GRCh38.p14 chr 8 NC_000008.11:g.97719511_97719512del
GRCh38.p14 chr 8 NC_000008.11:g.97719512del
GRCh38.p14 chr 8 NC_000008.11:g.97719512dup
GRCh38.p14 chr 8 NC_000008.11:g.97719511_97719512dup
GRCh38.p14 chr 8 NC_000008.11:g.97719510_97719512dup
GRCh38.p14 chr 8 NC_000008.11:g.97719509_97719512dup
GRCh38.p14 chr 8 NC_000008.11:g.97719508_97719512dup
GRCh38.p14 chr 8 NC_000008.11:g.97719506_97719512dup
GRCh38.p14 chr 8 NC_000008.11:g.97719505_97719512dup
GRCh38.p14 chr 8 NC_000008.11:g.97719504_97719512dup
GRCh38.p14 chr 8 NC_000008.11:g.97719503_97719512dup
GRCh38.p14 chr 8 NC_000008.11:g.97719502_97719512dup
GRCh38.p14 chr 8 NC_000008.11:g.97719501_97719512dup
GRCh38.p14 chr 8 NC_000008.11:g.97719500_97719512dup
GRCh38.p14 chr 8 NC_000008.11:g.97719499_97719512dup
GRCh37.p13 chr 8 NC_000008.10:g.98731729_98731740del
GRCh37.p13 chr 8 NC_000008.10:g.98731731_98731740del
GRCh37.p13 chr 8 NC_000008.10:g.98731732_98731740del
GRCh37.p13 chr 8 NC_000008.10:g.98731733_98731740del
GRCh37.p13 chr 8 NC_000008.10:g.98731734_98731740del
GRCh37.p13 chr 8 NC_000008.10:g.98731735_98731740del
GRCh37.p13 chr 8 NC_000008.10:g.98731736_98731740del
GRCh37.p13 chr 8 NC_000008.10:g.98731737_98731740del
GRCh37.p13 chr 8 NC_000008.10:g.98731738_98731740del
GRCh37.p13 chr 8 NC_000008.10:g.98731739_98731740del
GRCh37.p13 chr 8 NC_000008.10:g.98731740del
GRCh37.p13 chr 8 NC_000008.10:g.98731740dup
GRCh37.p13 chr 8 NC_000008.10:g.98731739_98731740dup
GRCh37.p13 chr 8 NC_000008.10:g.98731738_98731740dup
GRCh37.p13 chr 8 NC_000008.10:g.98731737_98731740dup
GRCh37.p13 chr 8 NC_000008.10:g.98731736_98731740dup
GRCh37.p13 chr 8 NC_000008.10:g.98731734_98731740dup
GRCh37.p13 chr 8 NC_000008.10:g.98731733_98731740dup
GRCh37.p13 chr 8 NC_000008.10:g.98731732_98731740dup
GRCh37.p13 chr 8 NC_000008.10:g.98731731_98731740dup
GRCh37.p13 chr 8 NC_000008.10:g.98731730_98731740dup
GRCh37.p13 chr 8 NC_000008.10:g.98731729_98731740dup
GRCh37.p13 chr 8 NC_000008.10:g.98731728_98731740dup
GRCh37.p13 chr 8 NC_000008.10:g.98731727_98731740dup
Gene: MTDH, metadherin (plus strand)
Molecule type Change Amino acid[Codon] SO Term
MTDH transcript variant 2 NM_001363136.1:c.1455+312…

NM_001363136.1:c.1455+312_1455+323del

N/A Intron Variant
MTDH transcript variant 3 NM_001363137.1:c.1611+312…

NM_001363137.1:c.1611+312_1611+323del

N/A Intron Variant
MTDH transcript variant 4 NM_001363138.1:c.1422+312…

NM_001363138.1:c.1422+312_1422+323del

N/A Intron Variant
MTDH transcript variant 5 NM_001363139.1:c.1356+312…

NM_001363139.1:c.1356+312_1356+323del

N/A Intron Variant
MTDH transcript variant 1 NM_178812.4:c.1521+312_15…

NM_178812.4:c.1521+312_1521+323del

N/A Intron Variant
MTDH transcript variant X1 XM_011517368.3:c.1545+312…

XM_011517368.3:c.1545+312_1545+323del

N/A Intron Variant
MTDH transcript variant X2 XM_011517369.4:c.1471-337…

XM_011517369.4:c.1471-3378_1471-3367del

N/A Intron Variant
MTDH transcript variant X3 XM_011517370.4:c.1381-337…

XM_011517370.4:c.1381-3378_1381-3367del

N/A Intron Variant
MTDH transcript variant X5 XM_017013968.3:c.1282-337…

XM_017013968.3:c.1282-3378_1282-3367del

N/A Intron Variant
MTDH transcript variant X4 XM_047422418.1:c.1315-337…

XM_047422418.1:c.1315-3378_1315-3367del

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 (A)20= del(A)12 del(A)10 del(A)9 del(A)8 del(A)7 del(A)6 del(A)5 del(A)4 delAAA delAA delA dupA dupAA dupAAA dup(A)4 dup(A)5 dup(A)7 dup(A)8 dup(A)9 dup(A)10 dup(A)11 dup(A)12 dup(A)13 dup(A)14
GRCh38.p14 chr 8 NC_000008.11:g.97719493_97719512= NC_000008.11:g.97719501_97719512del NC_000008.11:g.97719503_97719512del NC_000008.11:g.97719504_97719512del NC_000008.11:g.97719505_97719512del NC_000008.11:g.97719506_97719512del NC_000008.11:g.97719507_97719512del NC_000008.11:g.97719508_97719512del NC_000008.11:g.97719509_97719512del NC_000008.11:g.97719510_97719512del NC_000008.11:g.97719511_97719512del NC_000008.11:g.97719512del NC_000008.11:g.97719512dup NC_000008.11:g.97719511_97719512dup NC_000008.11:g.97719510_97719512dup NC_000008.11:g.97719509_97719512dup NC_000008.11:g.97719508_97719512dup NC_000008.11:g.97719506_97719512dup NC_000008.11:g.97719505_97719512dup NC_000008.11:g.97719504_97719512dup NC_000008.11:g.97719503_97719512dup NC_000008.11:g.97719502_97719512dup NC_000008.11:g.97719501_97719512dup NC_000008.11:g.97719500_97719512dup NC_000008.11:g.97719499_97719512dup
GRCh37.p13 chr 8 NC_000008.10:g.98731721_98731740= NC_000008.10:g.98731729_98731740del NC_000008.10:g.98731731_98731740del NC_000008.10:g.98731732_98731740del NC_000008.10:g.98731733_98731740del NC_000008.10:g.98731734_98731740del NC_000008.10:g.98731735_98731740del NC_000008.10:g.98731736_98731740del NC_000008.10:g.98731737_98731740del NC_000008.10:g.98731738_98731740del NC_000008.10:g.98731739_98731740del NC_000008.10:g.98731740del NC_000008.10:g.98731740dup NC_000008.10:g.98731739_98731740dup NC_000008.10:g.98731738_98731740dup NC_000008.10:g.98731737_98731740dup NC_000008.10:g.98731736_98731740dup NC_000008.10:g.98731734_98731740dup NC_000008.10:g.98731733_98731740dup NC_000008.10:g.98731732_98731740dup NC_000008.10:g.98731731_98731740dup NC_000008.10:g.98731730_98731740dup NC_000008.10:g.98731729_98731740dup NC_000008.10:g.98731728_98731740dup NC_000008.10:g.98731727_98731740dup
MTDH transcript variant 2 NM_001363136.1:c.1455+304= NM_001363136.1:c.1455+312_1455+323del NM_001363136.1:c.1455+314_1455+323del NM_001363136.1:c.1455+315_1455+323del NM_001363136.1:c.1455+316_1455+323del NM_001363136.1:c.1455+317_1455+323del NM_001363136.1:c.1455+318_1455+323del NM_001363136.1:c.1455+319_1455+323del NM_001363136.1:c.1455+320_1455+323del NM_001363136.1:c.1455+321_1455+323del NM_001363136.1:c.1455+322_1455+323del NM_001363136.1:c.1455+323del NM_001363136.1:c.1455+323dup NM_001363136.1:c.1455+322_1455+323dup NM_001363136.1:c.1455+321_1455+323dup NM_001363136.1:c.1455+320_1455+323dup NM_001363136.1:c.1455+319_1455+323dup NM_001363136.1:c.1455+317_1455+323dup NM_001363136.1:c.1455+316_1455+323dup NM_001363136.1:c.1455+315_1455+323dup NM_001363136.1:c.1455+314_1455+323dup NM_001363136.1:c.1455+313_1455+323dup NM_001363136.1:c.1455+312_1455+323dup NM_001363136.1:c.1455+311_1455+323dup NM_001363136.1:c.1455+310_1455+323dup
MTDH transcript variant 3 NM_001363137.1:c.1611+304= NM_001363137.1:c.1611+312_1611+323del NM_001363137.1:c.1611+314_1611+323del NM_001363137.1:c.1611+315_1611+323del NM_001363137.1:c.1611+316_1611+323del NM_001363137.1:c.1611+317_1611+323del NM_001363137.1:c.1611+318_1611+323del NM_001363137.1:c.1611+319_1611+323del NM_001363137.1:c.1611+320_1611+323del NM_001363137.1:c.1611+321_1611+323del NM_001363137.1:c.1611+322_1611+323del NM_001363137.1:c.1611+323del NM_001363137.1:c.1611+323dup NM_001363137.1:c.1611+322_1611+323dup NM_001363137.1:c.1611+321_1611+323dup NM_001363137.1:c.1611+320_1611+323dup NM_001363137.1:c.1611+319_1611+323dup NM_001363137.1:c.1611+317_1611+323dup NM_001363137.1:c.1611+316_1611+323dup NM_001363137.1:c.1611+315_1611+323dup NM_001363137.1:c.1611+314_1611+323dup NM_001363137.1:c.1611+313_1611+323dup NM_001363137.1:c.1611+312_1611+323dup NM_001363137.1:c.1611+311_1611+323dup NM_001363137.1:c.1611+310_1611+323dup
MTDH transcript variant 4 NM_001363138.1:c.1422+304= NM_001363138.1:c.1422+312_1422+323del NM_001363138.1:c.1422+314_1422+323del NM_001363138.1:c.1422+315_1422+323del NM_001363138.1:c.1422+316_1422+323del NM_001363138.1:c.1422+317_1422+323del NM_001363138.1:c.1422+318_1422+323del NM_001363138.1:c.1422+319_1422+323del NM_001363138.1:c.1422+320_1422+323del NM_001363138.1:c.1422+321_1422+323del NM_001363138.1:c.1422+322_1422+323del NM_001363138.1:c.1422+323del NM_001363138.1:c.1422+323dup NM_001363138.1:c.1422+322_1422+323dup NM_001363138.1:c.1422+321_1422+323dup NM_001363138.1:c.1422+320_1422+323dup NM_001363138.1:c.1422+319_1422+323dup NM_001363138.1:c.1422+317_1422+323dup NM_001363138.1:c.1422+316_1422+323dup NM_001363138.1:c.1422+315_1422+323dup NM_001363138.1:c.1422+314_1422+323dup NM_001363138.1:c.1422+313_1422+323dup NM_001363138.1:c.1422+312_1422+323dup NM_001363138.1:c.1422+311_1422+323dup NM_001363138.1:c.1422+310_1422+323dup
MTDH transcript variant 5 NM_001363139.1:c.1356+304= NM_001363139.1:c.1356+312_1356+323del NM_001363139.1:c.1356+314_1356+323del NM_001363139.1:c.1356+315_1356+323del NM_001363139.1:c.1356+316_1356+323del NM_001363139.1:c.1356+317_1356+323del NM_001363139.1:c.1356+318_1356+323del NM_001363139.1:c.1356+319_1356+323del NM_001363139.1:c.1356+320_1356+323del NM_001363139.1:c.1356+321_1356+323del NM_001363139.1:c.1356+322_1356+323del NM_001363139.1:c.1356+323del NM_001363139.1:c.1356+323dup NM_001363139.1:c.1356+322_1356+323dup NM_001363139.1:c.1356+321_1356+323dup NM_001363139.1:c.1356+320_1356+323dup NM_001363139.1:c.1356+319_1356+323dup NM_001363139.1:c.1356+317_1356+323dup NM_001363139.1:c.1356+316_1356+323dup NM_001363139.1:c.1356+315_1356+323dup NM_001363139.1:c.1356+314_1356+323dup NM_001363139.1:c.1356+313_1356+323dup NM_001363139.1:c.1356+312_1356+323dup NM_001363139.1:c.1356+311_1356+323dup NM_001363139.1:c.1356+310_1356+323dup
MTDH transcript NM_178812.3:c.1521+304= NM_178812.3:c.1521+312_1521+323del NM_178812.3:c.1521+314_1521+323del NM_178812.3:c.1521+315_1521+323del NM_178812.3:c.1521+316_1521+323del NM_178812.3:c.1521+317_1521+323del NM_178812.3:c.1521+318_1521+323del NM_178812.3:c.1521+319_1521+323del NM_178812.3:c.1521+320_1521+323del NM_178812.3:c.1521+321_1521+323del NM_178812.3:c.1521+322_1521+323del NM_178812.3:c.1521+323del NM_178812.3:c.1521+323dup NM_178812.3:c.1521+322_1521+323dup NM_178812.3:c.1521+321_1521+323dup NM_178812.3:c.1521+320_1521+323dup NM_178812.3:c.1521+319_1521+323dup NM_178812.3:c.1521+317_1521+323dup NM_178812.3:c.1521+316_1521+323dup NM_178812.3:c.1521+315_1521+323dup NM_178812.3:c.1521+314_1521+323dup NM_178812.3:c.1521+313_1521+323dup NM_178812.3:c.1521+312_1521+323dup NM_178812.3:c.1521+311_1521+323dup NM_178812.3:c.1521+310_1521+323dup
MTDH transcript variant 1 NM_178812.4:c.1521+304= NM_178812.4:c.1521+312_1521+323del NM_178812.4:c.1521+314_1521+323del NM_178812.4:c.1521+315_1521+323del NM_178812.4:c.1521+316_1521+323del NM_178812.4:c.1521+317_1521+323del NM_178812.4:c.1521+318_1521+323del NM_178812.4:c.1521+319_1521+323del NM_178812.4:c.1521+320_1521+323del NM_178812.4:c.1521+321_1521+323del NM_178812.4:c.1521+322_1521+323del NM_178812.4:c.1521+323del NM_178812.4:c.1521+323dup NM_178812.4:c.1521+322_1521+323dup NM_178812.4:c.1521+321_1521+323dup NM_178812.4:c.1521+320_1521+323dup NM_178812.4:c.1521+319_1521+323dup NM_178812.4:c.1521+317_1521+323dup NM_178812.4:c.1521+316_1521+323dup NM_178812.4:c.1521+315_1521+323dup NM_178812.4:c.1521+314_1521+323dup NM_178812.4:c.1521+313_1521+323dup NM_178812.4:c.1521+312_1521+323dup NM_178812.4:c.1521+311_1521+323dup NM_178812.4:c.1521+310_1521+323dup
MTDH transcript variant X1 XM_005251098.1:c.1455+304= XM_005251098.1:c.1455+312_1455+323del XM_005251098.1:c.1455+314_1455+323del XM_005251098.1:c.1455+315_1455+323del XM_005251098.1:c.1455+316_1455+323del XM_005251098.1:c.1455+317_1455+323del XM_005251098.1:c.1455+318_1455+323del XM_005251098.1:c.1455+319_1455+323del XM_005251098.1:c.1455+320_1455+323del XM_005251098.1:c.1455+321_1455+323del XM_005251098.1:c.1455+322_1455+323del XM_005251098.1:c.1455+323del XM_005251098.1:c.1455+323dup XM_005251098.1:c.1455+322_1455+323dup XM_005251098.1:c.1455+321_1455+323dup XM_005251098.1:c.1455+320_1455+323dup XM_005251098.1:c.1455+319_1455+323dup XM_005251098.1:c.1455+317_1455+323dup XM_005251098.1:c.1455+316_1455+323dup XM_005251098.1:c.1455+315_1455+323dup XM_005251098.1:c.1455+314_1455+323dup XM_005251098.1:c.1455+313_1455+323dup XM_005251098.1:c.1455+312_1455+323dup XM_005251098.1:c.1455+311_1455+323dup XM_005251098.1:c.1455+310_1455+323dup
MTDH transcript variant X2 XM_005251099.1:c.1422+304= XM_005251099.1:c.1422+312_1422+323del XM_005251099.1:c.1422+314_1422+323del XM_005251099.1:c.1422+315_1422+323del XM_005251099.1:c.1422+316_1422+323del XM_005251099.1:c.1422+317_1422+323del XM_005251099.1:c.1422+318_1422+323del XM_005251099.1:c.1422+319_1422+323del XM_005251099.1:c.1422+320_1422+323del XM_005251099.1:c.1422+321_1422+323del XM_005251099.1:c.1422+322_1422+323del XM_005251099.1:c.1422+323del XM_005251099.1:c.1422+323dup XM_005251099.1:c.1422+322_1422+323dup XM_005251099.1:c.1422+321_1422+323dup XM_005251099.1:c.1422+320_1422+323dup XM_005251099.1:c.1422+319_1422+323dup XM_005251099.1:c.1422+317_1422+323dup XM_005251099.1:c.1422+316_1422+323dup XM_005251099.1:c.1422+315_1422+323dup XM_005251099.1:c.1422+314_1422+323dup XM_005251099.1:c.1422+313_1422+323dup XM_005251099.1:c.1422+312_1422+323dup XM_005251099.1:c.1422+311_1422+323dup XM_005251099.1:c.1422+310_1422+323dup
MTDH transcript variant X1 XM_011517368.3:c.1545+304= XM_011517368.3:c.1545+312_1545+323del XM_011517368.3:c.1545+314_1545+323del XM_011517368.3:c.1545+315_1545+323del XM_011517368.3:c.1545+316_1545+323del XM_011517368.3:c.1545+317_1545+323del XM_011517368.3:c.1545+318_1545+323del XM_011517368.3:c.1545+319_1545+323del XM_011517368.3:c.1545+320_1545+323del XM_011517368.3:c.1545+321_1545+323del XM_011517368.3:c.1545+322_1545+323del XM_011517368.3:c.1545+323del XM_011517368.3:c.1545+323dup XM_011517368.3:c.1545+322_1545+323dup XM_011517368.3:c.1545+321_1545+323dup XM_011517368.3:c.1545+320_1545+323dup XM_011517368.3:c.1545+319_1545+323dup XM_011517368.3:c.1545+317_1545+323dup XM_011517368.3:c.1545+316_1545+323dup XM_011517368.3:c.1545+315_1545+323dup XM_011517368.3:c.1545+314_1545+323dup XM_011517368.3:c.1545+313_1545+323dup XM_011517368.3:c.1545+312_1545+323dup XM_011517368.3:c.1545+311_1545+323dup XM_011517368.3:c.1545+310_1545+323dup
MTDH transcript variant X2 XM_011517369.4:c.1471-3386= XM_011517369.4:c.1471-3378_1471-3367del XM_011517369.4:c.1471-3376_1471-3367del XM_011517369.4:c.1471-3375_1471-3367del XM_011517369.4:c.1471-3374_1471-3367del XM_011517369.4:c.1471-3373_1471-3367del XM_011517369.4:c.1471-3372_1471-3367del XM_011517369.4:c.1471-3371_1471-3367del XM_011517369.4:c.1471-3370_1471-3367del XM_011517369.4:c.1471-3369_1471-3367del XM_011517369.4:c.1471-3368_1471-3367del XM_011517369.4:c.1471-3367del XM_011517369.4:c.1471-3367dup XM_011517369.4:c.1471-3368_1471-3367dup XM_011517369.4:c.1471-3369_1471-3367dup XM_011517369.4:c.1471-3370_1471-3367dup XM_011517369.4:c.1471-3371_1471-3367dup XM_011517369.4:c.1471-3373_1471-3367dup XM_011517369.4:c.1471-3374_1471-3367dup XM_011517369.4:c.1471-3375_1471-3367dup XM_011517369.4:c.1471-3376_1471-3367dup XM_011517369.4:c.1471-3377_1471-3367dup XM_011517369.4:c.1471-3378_1471-3367dup XM_011517369.4:c.1471-3379_1471-3367dup XM_011517369.4:c.1471-3380_1471-3367dup
MTDH transcript variant X3 XM_011517370.4:c.1381-3386= XM_011517370.4:c.1381-3378_1381-3367del XM_011517370.4:c.1381-3376_1381-3367del XM_011517370.4:c.1381-3375_1381-3367del XM_011517370.4:c.1381-3374_1381-3367del XM_011517370.4:c.1381-3373_1381-3367del XM_011517370.4:c.1381-3372_1381-3367del XM_011517370.4:c.1381-3371_1381-3367del XM_011517370.4:c.1381-3370_1381-3367del XM_011517370.4:c.1381-3369_1381-3367del XM_011517370.4:c.1381-3368_1381-3367del XM_011517370.4:c.1381-3367del XM_011517370.4:c.1381-3367dup XM_011517370.4:c.1381-3368_1381-3367dup XM_011517370.4:c.1381-3369_1381-3367dup XM_011517370.4:c.1381-3370_1381-3367dup XM_011517370.4:c.1381-3371_1381-3367dup XM_011517370.4:c.1381-3373_1381-3367dup XM_011517370.4:c.1381-3374_1381-3367dup XM_011517370.4:c.1381-3375_1381-3367dup XM_011517370.4:c.1381-3376_1381-3367dup XM_011517370.4:c.1381-3377_1381-3367dup XM_011517370.4:c.1381-3378_1381-3367dup XM_011517370.4:c.1381-3379_1381-3367dup XM_011517370.4:c.1381-3380_1381-3367dup
MTDH transcript variant X5 XM_017013968.3:c.1282-3386= XM_017013968.3:c.1282-3378_1282-3367del XM_017013968.3:c.1282-3376_1282-3367del XM_017013968.3:c.1282-3375_1282-3367del XM_017013968.3:c.1282-3374_1282-3367del XM_017013968.3:c.1282-3373_1282-3367del XM_017013968.3:c.1282-3372_1282-3367del XM_017013968.3:c.1282-3371_1282-3367del XM_017013968.3:c.1282-3370_1282-3367del XM_017013968.3:c.1282-3369_1282-3367del XM_017013968.3:c.1282-3368_1282-3367del XM_017013968.3:c.1282-3367del XM_017013968.3:c.1282-3367dup XM_017013968.3:c.1282-3368_1282-3367dup XM_017013968.3:c.1282-3369_1282-3367dup XM_017013968.3:c.1282-3370_1282-3367dup XM_017013968.3:c.1282-3371_1282-3367dup XM_017013968.3:c.1282-3373_1282-3367dup XM_017013968.3:c.1282-3374_1282-3367dup XM_017013968.3:c.1282-3375_1282-3367dup XM_017013968.3:c.1282-3376_1282-3367dup XM_017013968.3:c.1282-3377_1282-3367dup XM_017013968.3:c.1282-3378_1282-3367dup XM_017013968.3:c.1282-3379_1282-3367dup XM_017013968.3:c.1282-3380_1282-3367dup
MTDH transcript variant X4 XM_047422418.1:c.1315-3386= XM_047422418.1:c.1315-3378_1315-3367del XM_047422418.1:c.1315-3376_1315-3367del XM_047422418.1:c.1315-3375_1315-3367del XM_047422418.1:c.1315-3374_1315-3367del XM_047422418.1:c.1315-3373_1315-3367del XM_047422418.1:c.1315-3372_1315-3367del XM_047422418.1:c.1315-3371_1315-3367del XM_047422418.1:c.1315-3370_1315-3367del XM_047422418.1:c.1315-3369_1315-3367del XM_047422418.1:c.1315-3368_1315-3367del XM_047422418.1:c.1315-3367del XM_047422418.1:c.1315-3367dup XM_047422418.1:c.1315-3368_1315-3367dup XM_047422418.1:c.1315-3369_1315-3367dup XM_047422418.1:c.1315-3370_1315-3367dup XM_047422418.1:c.1315-3371_1315-3367dup XM_047422418.1:c.1315-3373_1315-3367dup XM_047422418.1:c.1315-3374_1315-3367dup XM_047422418.1:c.1315-3375_1315-3367dup XM_047422418.1:c.1315-3376_1315-3367dup XM_047422418.1:c.1315-3377_1315-3367dup XM_047422418.1:c.1315-3378_1315-3367dup XM_047422418.1:c.1315-3379_1315-3367dup XM_047422418.1:c.1315-3380_1315-3367dup
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#.

56 SubSNP, 34 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGSV ss81585760 Sep 08, 2015 (146)
2 HGSV ss83642861 Dec 16, 2007 (130)
3 GMI ss288924168 May 04, 2012 (137)
4 1000GENOMES ss1368030023 Aug 21, 2014 (142)
5 EVA_GENOME_DK ss1577253476 Apr 01, 2015 (144)
6 EVA_DECODE ss3722610740 Jul 13, 2019 (153)
7 EVA_DECODE ss3722610741 Jul 13, 2019 (153)
8 EVA_DECODE ss3722610742 Jul 13, 2019 (153)
9 EVA_DECODE ss3722610743 Jul 13, 2019 (153)
10 EVA_DECODE ss3722610744 Jul 13, 2019 (153)
11 EVA_DECODE ss3722610745 Jul 13, 2019 (153)
12 KHV_HUMAN_GENOMES ss3811529313 Jul 13, 2019 (153)
13 EVA ss3831311819 Apr 26, 2020 (154)
14 GNOMAD ss4189843363 Apr 26, 2021 (155)
15 GNOMAD ss4189843364 Apr 26, 2021 (155)
16 GNOMAD ss4189843365 Apr 26, 2021 (155)
17 GNOMAD ss4189843366 Apr 26, 2021 (155)
18 GNOMAD ss4189843367 Apr 26, 2021 (155)
19 GNOMAD ss4189843368 Apr 26, 2021 (155)
20 GNOMAD ss4189843369 Apr 26, 2021 (155)
21 GNOMAD ss4189843370 Apr 26, 2021 (155)
22 GNOMAD ss4189843371 Apr 26, 2021 (155)
23 GNOMAD ss4189843372 Apr 26, 2021 (155)
24 GNOMAD ss4189843373 Apr 26, 2021 (155)
25 GNOMAD ss4189843374 Apr 26, 2021 (155)
26 GNOMAD ss4189843375 Apr 26, 2021 (155)
27 GNOMAD ss4189843376 Apr 26, 2021 (155)
28 GNOMAD ss4189843377 Apr 26, 2021 (155)
29 GNOMAD ss4189843378 Apr 26, 2021 (155)
30 GNOMAD ss4189843379 Apr 26, 2021 (155)
31 GNOMAD ss4189843380 Apr 26, 2021 (155)
32 GNOMAD ss4189843381 Apr 26, 2021 (155)
33 GNOMAD ss4189843382 Apr 26, 2021 (155)
34 GNOMAD ss4189843383 Apr 26, 2021 (155)
35 TOMMO_GENOMICS ss5190082113 Apr 26, 2021 (155)
36 TOMMO_GENOMICS ss5190082114 Apr 26, 2021 (155)
37 TOMMO_GENOMICS ss5190082115 Apr 26, 2021 (155)
38 TOMMO_GENOMICS ss5190082116 Apr 26, 2021 (155)
39 TOMMO_GENOMICS ss5190082117 Apr 26, 2021 (155)
40 1000G_HIGH_COVERAGE ss5278227520 Oct 16, 2022 (156)
41 1000G_HIGH_COVERAGE ss5278227521 Oct 16, 2022 (156)
42 1000G_HIGH_COVERAGE ss5278227522 Oct 16, 2022 (156)
43 1000G_HIGH_COVERAGE ss5278227523 Oct 16, 2022 (156)
44 1000G_HIGH_COVERAGE ss5278227525 Oct 16, 2022 (156)
45 HUGCELL_USP ss5474676860 Oct 16, 2022 (156)
46 HUGCELL_USP ss5474676861 Oct 16, 2022 (156)
47 HUGCELL_USP ss5474676862 Oct 16, 2022 (156)
48 HUGCELL_USP ss5474676863 Oct 16, 2022 (156)
49 HUGCELL_USP ss5474676864 Oct 16, 2022 (156)
50 EVA ss5509475104 Oct 16, 2022 (156)
51 TOMMO_GENOMICS ss5732545951 Oct 16, 2022 (156)
52 TOMMO_GENOMICS ss5732545952 Oct 16, 2022 (156)
53 TOMMO_GENOMICS ss5732545953 Oct 16, 2022 (156)
54 TOMMO_GENOMICS ss5732545954 Oct 16, 2022 (156)
55 EVA ss5830947949 Oct 16, 2022 (156)
56 EVA ss5856491184 Oct 16, 2022 (156)
57 1000Genomes NC_000008.10 - 98731721 Oct 12, 2018 (152)
58 The Danish reference pan genome NC_000008.10 - 98731721 Apr 26, 2020 (154)
59 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 305145219 (NC_000008.11:97719492::A 9141/72396)
Row 305145220 (NC_000008.11:97719492::AA 10943/72470)
Row 305145221 (NC_000008.11:97719492::AAA 803/72668)...

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

Submission ignored due to conflicting rows:
Row 305145219 (NC_000008.11:97719492::A 9141/72396)
Row 305145220 (NC_000008.11:97719492::AA 10943/72470)
Row 305145221 (NC_000008.11:97719492::AAA 803/72668)...

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

Submission ignored due to conflicting rows:
Row 305145219 (NC_000008.11:97719492::A 9141/72396)
Row 305145220 (NC_000008.11:97719492::AA 10943/72470)
Row 305145221 (NC_000008.11:97719492::AAA 803/72668)...

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

Submission ignored due to conflicting rows:
Row 305145219 (NC_000008.11:97719492::A 9141/72396)
Row 305145220 (NC_000008.11:97719492::AA 10943/72470)
Row 305145221 (NC_000008.11:97719492::AAA 803/72668)...

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

Submission ignored due to conflicting rows:
Row 305145219 (NC_000008.11:97719492::A 9141/72396)
Row 305145220 (NC_000008.11:97719492::AA 10943/72470)
Row 305145221 (NC_000008.11:97719492::AAA 803/72668)...

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

Submission ignored due to conflicting rows:
Row 305145219 (NC_000008.11:97719492::A 9141/72396)
Row 305145220 (NC_000008.11:97719492::AA 10943/72470)
Row 305145221 (NC_000008.11:97719492::AAA 803/72668)...

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

Submission ignored due to conflicting rows:
Row 305145219 (NC_000008.11:97719492::A 9141/72396)
Row 305145220 (NC_000008.11:97719492::AA 10943/72470)
Row 305145221 (NC_000008.11:97719492::AAA 803/72668)...

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

Submission ignored due to conflicting rows:
Row 305145219 (NC_000008.11:97719492::A 9141/72396)
Row 305145220 (NC_000008.11:97719492::AA 10943/72470)
Row 305145221 (NC_000008.11:97719492::AAA 803/72668)...

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

Submission ignored due to conflicting rows:
Row 305145219 (NC_000008.11:97719492::A 9141/72396)
Row 305145220 (NC_000008.11:97719492::AA 10943/72470)
Row 305145221 (NC_000008.11:97719492::AAA 803/72668)...

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

Submission ignored due to conflicting rows:
Row 305145219 (NC_000008.11:97719492::A 9141/72396)
Row 305145220 (NC_000008.11:97719492::AA 10943/72470)
Row 305145221 (NC_000008.11:97719492::AAA 803/72668)...

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

Submission ignored due to conflicting rows:
Row 305145219 (NC_000008.11:97719492::A 9141/72396)
Row 305145220 (NC_000008.11:97719492::AA 10943/72470)
Row 305145221 (NC_000008.11:97719492::AAA 803/72668)...

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

Submission ignored due to conflicting rows:
Row 305145219 (NC_000008.11:97719492::A 9141/72396)
Row 305145220 (NC_000008.11:97719492::AA 10943/72470)
Row 305145221 (NC_000008.11:97719492::AAA 803/72668)...

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

Submission ignored due to conflicting rows:
Row 305145219 (NC_000008.11:97719492::A 9141/72396)
Row 305145220 (NC_000008.11:97719492::AA 10943/72470)
Row 305145221 (NC_000008.11:97719492::AAA 803/72668)...

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

Submission ignored due to conflicting rows:
Row 305145219 (NC_000008.11:97719492::A 9141/72396)
Row 305145220 (NC_000008.11:97719492::AA 10943/72470)
Row 305145221 (NC_000008.11:97719492::AAA 803/72668)...

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

Submission ignored due to conflicting rows:
Row 305145219 (NC_000008.11:97719492::A 9141/72396)
Row 305145220 (NC_000008.11:97719492::AA 10943/72470)
Row 305145221 (NC_000008.11:97719492::AAA 803/72668)...

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

Submission ignored due to conflicting rows:
Row 305145219 (NC_000008.11:97719492::A 9141/72396)
Row 305145220 (NC_000008.11:97719492::AA 10943/72470)
Row 305145221 (NC_000008.11:97719492::AAA 803/72668)...

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

Submission ignored due to conflicting rows:
Row 305145219 (NC_000008.11:97719492::A 9141/72396)
Row 305145220 (NC_000008.11:97719492::AA 10943/72470)
Row 305145221 (NC_000008.11:97719492::AAA 803/72668)...

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

Submission ignored due to conflicting rows:
Row 305145219 (NC_000008.11:97719492::A 9141/72396)
Row 305145220 (NC_000008.11:97719492::AA 10943/72470)
Row 305145221 (NC_000008.11:97719492::AAA 803/72668)...

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

Submission ignored due to conflicting rows:
Row 305145219 (NC_000008.11:97719492::A 9141/72396)
Row 305145220 (NC_000008.11:97719492::AA 10943/72470)
Row 305145221 (NC_000008.11:97719492::AAA 803/72668)...

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

Submission ignored due to conflicting rows:
Row 305145219 (NC_000008.11:97719492::A 9141/72396)
Row 305145220 (NC_000008.11:97719492::AA 10943/72470)
Row 305145221 (NC_000008.11:97719492::AAA 803/72668)...

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

Submission ignored due to conflicting rows:
Row 305145219 (NC_000008.11:97719492::A 9141/72396)
Row 305145220 (NC_000008.11:97719492::AA 10943/72470)
Row 305145221 (NC_000008.11:97719492::AAA 803/72668)...

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

Submission ignored due to conflicting rows:
Row 305145219 (NC_000008.11:97719492::A 9141/72396)
Row 305145220 (NC_000008.11:97719492::AA 10943/72470)
Row 305145221 (NC_000008.11:97719492::AAA 803/72668)...

- Apr 26, 2021 (155)
81 8.3KJPN

Submission ignored due to conflicting rows:
Row 48051420 (NC_000008.10:98731720::AA 807/16702)
Row 48051421 (NC_000008.10:98731720:AAAA: 2815/16702)
Row 48051422 (NC_000008.10:98731720:A: 14/16702)...

- Apr 26, 2021 (155)
82 8.3KJPN

Submission ignored due to conflicting rows:
Row 48051420 (NC_000008.10:98731720::AA 807/16702)
Row 48051421 (NC_000008.10:98731720:AAAA: 2815/16702)
Row 48051422 (NC_000008.10:98731720:A: 14/16702)...

- Apr 26, 2021 (155)
83 8.3KJPN

Submission ignored due to conflicting rows:
Row 48051420 (NC_000008.10:98731720::AA 807/16702)
Row 48051421 (NC_000008.10:98731720:AAAA: 2815/16702)
Row 48051422 (NC_000008.10:98731720:A: 14/16702)...

- Apr 26, 2021 (155)
84 8.3KJPN

Submission ignored due to conflicting rows:
Row 48051420 (NC_000008.10:98731720::AA 807/16702)
Row 48051421 (NC_000008.10:98731720:AAAA: 2815/16702)
Row 48051422 (NC_000008.10:98731720:A: 14/16702)...

- Apr 26, 2021 (155)
85 8.3KJPN

Submission ignored due to conflicting rows:
Row 48051420 (NC_000008.10:98731720::AA 807/16702)
Row 48051421 (NC_000008.10:98731720:AAAA: 2815/16702)
Row 48051422 (NC_000008.10:98731720:A: 14/16702)...

- Apr 26, 2021 (155)
86 14KJPN

Submission ignored due to conflicting rows:
Row 66383055 (NC_000008.11:97719492::AA 1404/28216)
Row 66383056 (NC_000008.11:97719492:AAAA: 4993/28216)
Row 66383057 (NC_000008.11:97719492:AAA: 10/28216)...

- Oct 16, 2022 (156)
87 14KJPN

Submission ignored due to conflicting rows:
Row 66383055 (NC_000008.11:97719492::AA 1404/28216)
Row 66383056 (NC_000008.11:97719492:AAAA: 4993/28216)
Row 66383057 (NC_000008.11:97719492:AAA: 10/28216)...

- Oct 16, 2022 (156)
88 14KJPN

Submission ignored due to conflicting rows:
Row 66383055 (NC_000008.11:97719492::AA 1404/28216)
Row 66383056 (NC_000008.11:97719492:AAAA: 4993/28216)
Row 66383057 (NC_000008.11:97719492:AAA: 10/28216)...

- Oct 16, 2022 (156)
89 14KJPN

Submission ignored due to conflicting rows:
Row 66383055 (NC_000008.11:97719492::AA 1404/28216)
Row 66383056 (NC_000008.11:97719492:AAAA: 4993/28216)
Row 66383057 (NC_000008.11:97719492:AAA: 10/28216)...

- Oct 16, 2022 (156)
90 ALFA NC_000008.11 - 97719493 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)
rs61585888 May 23, 2008 (130)
rs72458505 May 11, 2012 (137)
rs71885728 Apr 25, 2013 (138)
rs202071151 May 11, 2012 (137)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4189843383 NC_000008.11:97719492:AAAAAAAAAAAA: NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA

(self)
468225870 NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA

NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA

(self)
ss4189843382 NC_000008.11:97719492:AAAAAAAAAA: NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

(self)
468225870 NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

(self)
ss4189843381 NC_000008.11:97719492:AAAAAAAAA: NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
468225870 NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
468225870 NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss4189843380 NC_000008.11:97719492:AAAAAAA: NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
468225870 NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss4189843379 NC_000008.11:97719492:AAAAAA: NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
468225870 NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss3722610745, ss4189843378 NC_000008.11:97719492:AAAAA: NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
468225870 NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss288924168 NC_000008.9:98800896:AAAA: NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss81585760 NC_000008.9:98800912:AAAA: NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
43264384, 1238312, ss1368030023, ss1577253476, ss5190082114, ss5830947949 NC_000008.10:98731720:AAAA: NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3811529313, ss4189843377, ss5278227520, ss5474676862, ss5732545952, ss5856491184 NC_000008.11:97719492:AAAA: NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
468225870 NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3722610744 NC_000008.11:97719493:AAAA: NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss5190082116 NC_000008.10:98731720:AAA: NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss4189843376, ss5732545953 NC_000008.11:97719492:AAA: NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
468225870 NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss4189843375 NC_000008.11:97719492:AA: NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3722610743 NC_000008.11:97719495:AA: NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss5190082115 NC_000008.10:98731720:A: NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss5278227523, ss5474676861 NC_000008.11:97719492:A: NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
468225870 NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss3722610742 NC_000008.11:97719496:A: NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss3831311819, ss5190082117 NC_000008.10:98731720::A NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss4189843363, ss5278227521, ss5474676860, ss5732545954 NC_000008.11:97719492::A NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
468225870 NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss3722610741 NC_000008.11:97719497::A NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss83642861 NT_008046.16:12005289::A NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss5190082113 NC_000008.10:98731720::AA NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss4189843364, ss5278227522, ss5474676863, ss5732545951 NC_000008.11:97719492::AA NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
468225870 NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss3722610740 NC_000008.11:97719497::AA NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss4189843365, ss5278227525, ss5474676864 NC_000008.11:97719492::AAA NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
468225870 NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss5509475104 NC_000008.10:98731720::AAAA NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

ss4189843366 NC_000008.11:97719492::AAAA NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
468225870 NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4189843367 NC_000008.11:97719492::AAAAA NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4189843368 NC_000008.11:97719492::AAAAAAA NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
468225870 NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4189843369 NC_000008.11:97719492::AAAAAAAAA NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4189843370 NC_000008.11:97719492::AAAAAAAAAA NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4189843371 NC_000008.11:97719492::AAAAAAAAAAA NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4189843372 NC_000008.11:97719492::AAAAAAAAAAAA NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4189843373 NC_000008.11:97719492::AAAAAAAAAAA…

NC_000008.11:97719492::AAAAAAAAAAAAA

NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4189843374 NC_000008.11:97719492::AAAAAAAAAAA…

NC_000008.11:97719492::AAAAAAAAAAAAAA

NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss3570384773 NC_000008.11:97719492::AAAAAAAA NC_000008.11:97719492:AAAAAAAAAAAA…

NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

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 rs11383714

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