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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.

rs201576721

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:89726483-89726496 (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)4 / delAA / delA / dupA / du…

del(A)4 / delAA / delA / dupA / dupAA / dupAAA / dup(A)4 / dup(A)6 / dup(A)7 / dup(A)8 / dup(A)9 / dup(A)10 / dup(A)11 / dup(A)12 / ins(A)15 / ins(A)16 / ins(A)17 / ins(A)18 / ins(A)19 / ins(A)20 / ins(A)21 / ins(A)22 / ins(A)23 / ins(A)24 / ins(A)32 / ins(A)22T(A)16 / ins(A)21G(A)22 / ins(A)5G(A)15 / ins(A)5G(A)22 / ins(A)4G(A)22 / ins(AAAAGA)2AAAAAAAAAAAAAA

Variation Type
Indel Insertion and Deletion
Frequency
delA=0.06237 (760/12186, ALFA)
delA=0.1677 (840/5008, 1000G)
delA=0.20 (8/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MDN1 : 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 12186 AAAAAAAAAAAAAA=0.93665 AAAAAAAAAA=0.00000, AAAAAAAAAAAA=0.00000, AAAAAAAAAAAAA=0.06237, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00033, AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA=0.00057, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00008, AAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAA=0.00000 0.889766 0.014808 0.095426 32
European Sub 9374 AAAAAAAAAAAAAA=0.9176 AAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0811, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0004, AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA=0.0007, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0001, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000 0.856592 0.019264 0.124144 32
African Sub 1802 AAAAAAAAAAAAAA=1.0000 AAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Others Sub 70 AAAAAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African American Sub 1732 AAAAAAAAAAAAAA=1.0000 AAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
Asian Sub 54 AAAAAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
East Asian Sub 40 AAAAAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 14 AAAAAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 98 AAAAAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 464 AAAAAAAAAAAAAA=1.000 AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 74 AAAAAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 320 AAAAAAAAAAAAAA=1.000 AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=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 12186 (A)14=0.93665 del(A)4=0.00000, delAA=0.00000, delA=0.06237, dupA=0.00000, dupAA=0.00000, dup(A)4=0.00000, ins(A)17=0.00033, ins(A)24=0.00008, ins(A)5G(A)22=0.00057
Allele Frequency Aggregator European Sub 9374 (A)14=0.9176 del(A)4=0.0000, delAA=0.0000, delA=0.0811, dupA=0.0000, dupAA=0.0000, dup(A)4=0.0000, ins(A)17=0.0004, ins(A)24=0.0001, ins(A)5G(A)22=0.0007
Allele Frequency Aggregator African Sub 1802 (A)14=1.0000 del(A)4=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dup(A)4=0.0000, ins(A)17=0.0000, ins(A)24=0.0000, ins(A)5G(A)22=0.0000
Allele Frequency Aggregator Latin American 2 Sub 464 (A)14=1.000 del(A)4=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dup(A)4=0.000, ins(A)17=0.000, ins(A)24=0.000, ins(A)5G(A)22=0.000
Allele Frequency Aggregator Other Sub 320 (A)14=1.000 del(A)4=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dup(A)4=0.000, ins(A)17=0.000, ins(A)24=0.000, ins(A)5G(A)22=0.000
Allele Frequency Aggregator Latin American 1 Sub 98 (A)14=1.00 del(A)4=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dup(A)4=0.00, ins(A)17=0.00, ins(A)24=0.00, ins(A)5G(A)22=0.00
Allele Frequency Aggregator South Asian Sub 74 (A)14=1.00 del(A)4=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dup(A)4=0.00, ins(A)17=0.00, ins(A)24=0.00, ins(A)5G(A)22=0.00
Allele Frequency Aggregator Asian Sub 54 (A)14=1.00 del(A)4=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dup(A)4=0.00, ins(A)17=0.00, ins(A)24=0.00, ins(A)5G(A)22=0.00
1000Genomes Global Study-wide 5008 (A)14=0.8323 delA=0.1677
1000Genomes African Sub 1322 (A)14=0.8154 delA=0.1846
1000Genomes East Asian Sub 1008 (A)14=0.7798 delA=0.2202
1000Genomes Europe Sub 1006 (A)14=0.8151 delA=0.1849
1000Genomes South Asian Sub 978 (A)14=0.909 delA=0.091
1000Genomes American Sub 694 (A)14=0.857 delA=0.143
The Danish reference pan genome Danish Study-wide 40 (A)14=0.80 delA=0.20
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.89726493_89726496del
GRCh38.p14 chr 6 NC_000006.12:g.89726495_89726496del
GRCh38.p14 chr 6 NC_000006.12:g.89726496del
GRCh38.p14 chr 6 NC_000006.12:g.89726496dup
GRCh38.p14 chr 6 NC_000006.12:g.89726495_89726496dup
GRCh38.p14 chr 6 NC_000006.12:g.89726494_89726496dup
GRCh38.p14 chr 6 NC_000006.12:g.89726493_89726496dup
GRCh38.p14 chr 6 NC_000006.12:g.89726491_89726496dup
GRCh38.p14 chr 6 NC_000006.12:g.89726490_89726496dup
GRCh38.p14 chr 6 NC_000006.12:g.89726489_89726496dup
GRCh38.p14 chr 6 NC_000006.12:g.89726488_89726496dup
GRCh38.p14 chr 6 NC_000006.12:g.89726487_89726496dup
GRCh38.p14 chr 6 NC_000006.12:g.89726486_89726496dup
GRCh38.p14 chr 6 NC_000006.12:g.89726485_89726496dup
GRCh38.p14 chr 6 NC_000006.12:g.89726496_89726497insAAAAAAAAAAAAAAA
GRCh38.p14 chr 6 NC_000006.12:g.89726496_89726497insAAAAAAAAAAAAAAAA
GRCh38.p14 chr 6 NC_000006.12:g.89726496_89726497insAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 6 NC_000006.12:g.89726496_89726497insAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 6 NC_000006.12:g.89726496_89726497insAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 6 NC_000006.12:g.89726496_89726497insAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 6 NC_000006.12:g.89726496_89726497insAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 6 NC_000006.12:g.89726496_89726497insAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 6 NC_000006.12:g.89726496_89726497insAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 6 NC_000006.12:g.89726496_89726497insAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 6 NC_000006.12:g.89726496_89726497insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 6 NC_000006.12:g.89726483_89726496A[36]TAAAAAAAAAAAAAAAA[1]
GRCh38.p14 chr 6 NC_000006.12:g.89726483_89726496A[35]GAAAAAAAAAAAAAAAAAAAAAA[1]
GRCh38.p14 chr 6 NC_000006.12:g.89726483_89726496A[19]GAAAAAAAAAAAAAAA[1]
GRCh38.p14 chr 6 NC_000006.12:g.89726483_89726496A[19]GAAAAAAAAAAAAAAAAAAAAAA[1]
GRCh38.p14 chr 6 NC_000006.12:g.89726483_89726496A[18]GAAAAAAAAAAAAAAAAAAAAAA[1]
GRCh38.p14 chr 6 NC_000006.12:g.89726483_89726496A[18]GAAAAA[2]A[10]
GRCh37.p13 chr 6 NC_000006.11:g.90436212_90436215del
GRCh37.p13 chr 6 NC_000006.11:g.90436214_90436215del
GRCh37.p13 chr 6 NC_000006.11:g.90436215del
GRCh37.p13 chr 6 NC_000006.11:g.90436215dup
GRCh37.p13 chr 6 NC_000006.11:g.90436214_90436215dup
GRCh37.p13 chr 6 NC_000006.11:g.90436213_90436215dup
GRCh37.p13 chr 6 NC_000006.11:g.90436212_90436215dup
GRCh37.p13 chr 6 NC_000006.11:g.90436210_90436215dup
GRCh37.p13 chr 6 NC_000006.11:g.90436209_90436215dup
GRCh37.p13 chr 6 NC_000006.11:g.90436208_90436215dup
GRCh37.p13 chr 6 NC_000006.11:g.90436207_90436215dup
GRCh37.p13 chr 6 NC_000006.11:g.90436206_90436215dup
GRCh37.p13 chr 6 NC_000006.11:g.90436205_90436215dup
GRCh37.p13 chr 6 NC_000006.11:g.90436204_90436215dup
GRCh37.p13 chr 6 NC_000006.11:g.90436215_90436216insAAAAAAAAAAAAAAA
GRCh37.p13 chr 6 NC_000006.11:g.90436215_90436216insAAAAAAAAAAAAAAAA
GRCh37.p13 chr 6 NC_000006.11:g.90436215_90436216insAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 6 NC_000006.11:g.90436215_90436216insAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 6 NC_000006.11:g.90436215_90436216insAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 6 NC_000006.11:g.90436215_90436216insAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 6 NC_000006.11:g.90436215_90436216insAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 6 NC_000006.11:g.90436215_90436216insAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 6 NC_000006.11:g.90436215_90436216insAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 6 NC_000006.11:g.90436215_90436216insAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 6 NC_000006.11:g.90436215_90436216insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 6 NC_000006.11:g.90436202_90436215A[36]TAAAAAAAAAAAAAAAA[1]
GRCh37.p13 chr 6 NC_000006.11:g.90436202_90436215A[35]GAAAAAAAAAAAAAAAAAAAAAA[1]
GRCh37.p13 chr 6 NC_000006.11:g.90436202_90436215A[19]GAAAAAAAAAAAAAAA[1]
GRCh37.p13 chr 6 NC_000006.11:g.90436202_90436215A[19]GAAAAAAAAAAAAAAAAAAAAAA[1]
GRCh37.p13 chr 6 NC_000006.11:g.90436202_90436215A[18]GAAAAAAAAAAAAAAAAAAAAAA[1]
GRCh37.p13 chr 6 NC_000006.11:g.90436202_90436215A[18]GAAAAA[2]A[10]
MDN1 RefSeqGene NG_034012.1:g.98309_98312del
MDN1 RefSeqGene NG_034012.1:g.98311_98312del
MDN1 RefSeqGene NG_034012.1:g.98312del
MDN1 RefSeqGene NG_034012.1:g.98312dup
MDN1 RefSeqGene NG_034012.1:g.98311_98312dup
MDN1 RefSeqGene NG_034012.1:g.98310_98312dup
MDN1 RefSeqGene NG_034012.1:g.98309_98312dup
MDN1 RefSeqGene NG_034012.1:g.98307_98312dup
MDN1 RefSeqGene NG_034012.1:g.98306_98312dup
MDN1 RefSeqGene NG_034012.1:g.98305_98312dup
MDN1 RefSeqGene NG_034012.1:g.98304_98312dup
MDN1 RefSeqGene NG_034012.1:g.98303_98312dup
MDN1 RefSeqGene NG_034012.1:g.98302_98312dup
MDN1 RefSeqGene NG_034012.1:g.98301_98312dup
MDN1 RefSeqGene NG_034012.1:g.98312_98313insTTTTTTTTTTTTTTT
MDN1 RefSeqGene NG_034012.1:g.98312_98313insTTTTTTTTTTTTTTTT
MDN1 RefSeqGene NG_034012.1:g.98312_98313insTTTTTTTTTTTTTTTTT
MDN1 RefSeqGene NG_034012.1:g.98312_98313insTTTTTTTTTTTTTTTTTT
MDN1 RefSeqGene NG_034012.1:g.98312_98313insTTTTTTTTTTTTTTTTTTT
MDN1 RefSeqGene NG_034012.1:g.98312_98313insTTTTTTTTTTTTTTTTTTTT
MDN1 RefSeqGene NG_034012.1:g.98312_98313insTTTTTTTTTTTTTTTTTTTTT
MDN1 RefSeqGene NG_034012.1:g.98312_98313insTTTTTTTTTTTTTTTTTTTTTT
MDN1 RefSeqGene NG_034012.1:g.98312_98313insTTTTTTTTTTTTTTTTTTTTTTT
MDN1 RefSeqGene NG_034012.1:g.98312_98313insTTTTTTTTTTTTTTTTTTTTTTTT
MDN1 RefSeqGene NG_034012.1:g.98312_98313insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
MDN1 RefSeqGene NG_034012.1:g.98299_98312T[16]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]
MDN1 RefSeqGene NG_034012.1:g.98299_98312T[22]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]
MDN1 RefSeqGene NG_034012.1:g.98299_98312T[15]CTTTTTTTTTTTTTTTTTTT[1]
MDN1 RefSeqGene NG_034012.1:g.98299_98312T[22]CTTTTTTTTTTTTTTTTTTT[1]
MDN1 RefSeqGene NG_034012.1:g.98299_98312T[22]CTTTTTTTTTTTTTTTTTT[1]
MDN1 RefSeqGene NG_034012.1:g.98299_98312T[15]CTTTTT[2]T[13]
Gene: MDN1, midasin AAA ATPase 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
MDN1 transcript NM_014611.3:c.5473-1090_5…

NM_014611.3:c.5473-1090_5473-1087del

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)14= del(A)4 delAA delA dupA dupAA dupAAA dup(A)4 dup(A)6 dup(A)7 dup(A)8 dup(A)9 dup(A)10 dup(A)11 dup(A)12 ins(A)15 ins(A)16 ins(A)17 ins(A)18 ins(A)19 ins(A)20 ins(A)21 ins(A)22 ins(A)23 ins(A)24 ins(A)32 ins(A)22T(A)16 ins(A)21G(A)22 ins(A)5G(A)15 ins(A)5G(A)22 ins(A)4G(A)22 ins(AAAAGA)2AAAAAAAAAAAAAA
GRCh38.p14 chr 6 NC_000006.12:g.89726483_89726496= NC_000006.12:g.89726493_89726496del NC_000006.12:g.89726495_89726496del NC_000006.12:g.89726496del NC_000006.12:g.89726496dup NC_000006.12:g.89726495_89726496dup NC_000006.12:g.89726494_89726496dup NC_000006.12:g.89726493_89726496dup NC_000006.12:g.89726491_89726496dup NC_000006.12:g.89726490_89726496dup NC_000006.12:g.89726489_89726496dup NC_000006.12:g.89726488_89726496dup NC_000006.12:g.89726487_89726496dup NC_000006.12:g.89726486_89726496dup NC_000006.12:g.89726485_89726496dup NC_000006.12:g.89726496_89726497insAAAAAAAAAAAAAAA NC_000006.12:g.89726496_89726497insAAAAAAAAAAAAAAAA NC_000006.12:g.89726496_89726497insAAAAAAAAAAAAAAAAA NC_000006.12:g.89726496_89726497insAAAAAAAAAAAAAAAAAA NC_000006.12:g.89726496_89726497insAAAAAAAAAAAAAAAAAAA NC_000006.12:g.89726496_89726497insAAAAAAAAAAAAAAAAAAAA NC_000006.12:g.89726496_89726497insAAAAAAAAAAAAAAAAAAAAA NC_000006.12:g.89726496_89726497insAAAAAAAAAAAAAAAAAAAAAA NC_000006.12:g.89726496_89726497insAAAAAAAAAAAAAAAAAAAAAAA NC_000006.12:g.89726496_89726497insAAAAAAAAAAAAAAAAAAAAAAAA NC_000006.12:g.89726496_89726497insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000006.12:g.89726483_89726496A[36]TAAAAAAAAAAAAAAAA[1] NC_000006.12:g.89726483_89726496A[35]GAAAAAAAAAAAAAAAAAAAAAA[1] NC_000006.12:g.89726483_89726496A[19]GAAAAAAAAAAAAAAA[1] NC_000006.12:g.89726483_89726496A[19]GAAAAAAAAAAAAAAAAAAAAAA[1] NC_000006.12:g.89726483_89726496A[18]GAAAAAAAAAAAAAAAAAAAAAA[1] NC_000006.12:g.89726483_89726496A[18]GAAAAA[2]A[10]
GRCh37.p13 chr 6 NC_000006.11:g.90436202_90436215= NC_000006.11:g.90436212_90436215del NC_000006.11:g.90436214_90436215del NC_000006.11:g.90436215del NC_000006.11:g.90436215dup NC_000006.11:g.90436214_90436215dup NC_000006.11:g.90436213_90436215dup NC_000006.11:g.90436212_90436215dup NC_000006.11:g.90436210_90436215dup NC_000006.11:g.90436209_90436215dup NC_000006.11:g.90436208_90436215dup NC_000006.11:g.90436207_90436215dup NC_000006.11:g.90436206_90436215dup NC_000006.11:g.90436205_90436215dup NC_000006.11:g.90436204_90436215dup NC_000006.11:g.90436215_90436216insAAAAAAAAAAAAAAA NC_000006.11:g.90436215_90436216insAAAAAAAAAAAAAAAA NC_000006.11:g.90436215_90436216insAAAAAAAAAAAAAAAAA NC_000006.11:g.90436215_90436216insAAAAAAAAAAAAAAAAAA NC_000006.11:g.90436215_90436216insAAAAAAAAAAAAAAAAAAA NC_000006.11:g.90436215_90436216insAAAAAAAAAAAAAAAAAAAA NC_000006.11:g.90436215_90436216insAAAAAAAAAAAAAAAAAAAAA NC_000006.11:g.90436215_90436216insAAAAAAAAAAAAAAAAAAAAAA NC_000006.11:g.90436215_90436216insAAAAAAAAAAAAAAAAAAAAAAA NC_000006.11:g.90436215_90436216insAAAAAAAAAAAAAAAAAAAAAAAA NC_000006.11:g.90436215_90436216insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000006.11:g.90436202_90436215A[36]TAAAAAAAAAAAAAAAA[1] NC_000006.11:g.90436202_90436215A[35]GAAAAAAAAAAAAAAAAAAAAAA[1] NC_000006.11:g.90436202_90436215A[19]GAAAAAAAAAAAAAAA[1] NC_000006.11:g.90436202_90436215A[19]GAAAAAAAAAAAAAAAAAAAAAA[1] NC_000006.11:g.90436202_90436215A[18]GAAAAAAAAAAAAAAAAAAAAAA[1] NC_000006.11:g.90436202_90436215A[18]GAAAAA[2]A[10]
MDN1 RefSeqGene NG_034012.1:g.98299_98312= NG_034012.1:g.98309_98312del NG_034012.1:g.98311_98312del NG_034012.1:g.98312del NG_034012.1:g.98312dup NG_034012.1:g.98311_98312dup NG_034012.1:g.98310_98312dup NG_034012.1:g.98309_98312dup NG_034012.1:g.98307_98312dup NG_034012.1:g.98306_98312dup NG_034012.1:g.98305_98312dup NG_034012.1:g.98304_98312dup NG_034012.1:g.98303_98312dup NG_034012.1:g.98302_98312dup NG_034012.1:g.98301_98312dup NG_034012.1:g.98312_98313insTTTTTTTTTTTTTTT NG_034012.1:g.98312_98313insTTTTTTTTTTTTTTTT NG_034012.1:g.98312_98313insTTTTTTTTTTTTTTTTT NG_034012.1:g.98312_98313insTTTTTTTTTTTTTTTTTT NG_034012.1:g.98312_98313insTTTTTTTTTTTTTTTTTTT NG_034012.1:g.98312_98313insTTTTTTTTTTTTTTTTTTTT NG_034012.1:g.98312_98313insTTTTTTTTTTTTTTTTTTTTT NG_034012.1:g.98312_98313insTTTTTTTTTTTTTTTTTTTTTT NG_034012.1:g.98312_98313insTTTTTTTTTTTTTTTTTTTTTTT NG_034012.1:g.98312_98313insTTTTTTTTTTTTTTTTTTTTTTTT NG_034012.1:g.98312_98313insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NG_034012.1:g.98299_98312T[16]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1] NG_034012.1:g.98299_98312T[22]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1] NG_034012.1:g.98299_98312T[15]CTTTTTTTTTTTTTTTTTTT[1] NG_034012.1:g.98299_98312T[22]CTTTTTTTTTTTTTTTTTTT[1] NG_034012.1:g.98299_98312T[22]CTTTTTTTTTTTTTTTTTT[1] NG_034012.1:g.98299_98312T[15]CTTTTT[2]T[13]
MDN1 transcript NM_014611.1:c.5473-1087= NM_014611.1:c.5473-1090_5473-1087del NM_014611.1:c.5473-1088_5473-1087del NM_014611.1:c.5473-1087del NM_014611.1:c.5473-1087dup NM_014611.1:c.5473-1088_5473-1087dup NM_014611.1:c.5473-1089_5473-1087dup NM_014611.1:c.5473-1090_5473-1087dup NM_014611.1:c.5473-1092_5473-1087dup NM_014611.1:c.5473-1093_5473-1087dup NM_014611.1:c.5473-1094_5473-1087dup NM_014611.1:c.5473-1095_5473-1087dup NM_014611.1:c.5473-1096_5473-1087dup NM_014611.1:c.5473-1097_5473-1087dup NM_014611.1:c.5473-1098_5473-1087dup NM_014611.1:c.5473-1087_5473-1086insTTTTTTTTTTTTTTT NM_014611.1:c.5473-1087_5473-1086insTTTTTTTTTTTTTTTT NM_014611.1:c.5473-1087_5473-1086insTTTTTTTTTTTTTTTTT NM_014611.1:c.5473-1087_5473-1086insTTTTTTTTTTTTTTTTTT NM_014611.1:c.5473-1087_5473-1086insTTTTTTTTTTTTTTTTTTT NM_014611.1:c.5473-1087_5473-1086insTTTTTTTTTTTTTTTTTTTT NM_014611.1:c.5473-1087_5473-1086insTTTTTTTTTTTTTTTTTTTTT NM_014611.1:c.5473-1087_5473-1086insTTTTTTTTTTTTTTTTTTTTTT NM_014611.1:c.5473-1087_5473-1086insTTTTTTTTTTTTTTTTTTTTTTT NM_014611.1:c.5473-1087_5473-1086insTTTTTTTTTTTTTTTTTTTTTTTT NM_014611.1:c.5473-1087_5473-1086insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_014611.1:c.5473-1087_5473-1086insTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTT NM_014611.1:c.5473-1087_5473-1086insTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT NM_014611.1:c.5473-1087_5473-1086insTTTTTTTTTTTTTTTCTTTTT NM_014611.1:c.5473-1087_5473-1086insTTTTTTTTTTTTTTTTTTTTTTCTTTTT NM_014611.1:c.5473-1087_5473-1086insTTTTTTTTTTTTTTTTTTTTTTCTTTT NM_014611.1:c.5473-1087_5473-1086insTTTTTTTTTTTTTTTCTTTTTCTTTT
MDN1 transcript NM_014611.3:c.5473-1087= NM_014611.3:c.5473-1090_5473-1087del NM_014611.3:c.5473-1088_5473-1087del NM_014611.3:c.5473-1087del NM_014611.3:c.5473-1087dup NM_014611.3:c.5473-1088_5473-1087dup NM_014611.3:c.5473-1089_5473-1087dup NM_014611.3:c.5473-1090_5473-1087dup NM_014611.3:c.5473-1092_5473-1087dup NM_014611.3:c.5473-1093_5473-1087dup NM_014611.3:c.5473-1094_5473-1087dup NM_014611.3:c.5473-1095_5473-1087dup NM_014611.3:c.5473-1096_5473-1087dup NM_014611.3:c.5473-1097_5473-1087dup NM_014611.3:c.5473-1098_5473-1087dup NM_014611.3:c.5473-1087_5473-1086insTTTTTTTTTTTTTTT NM_014611.3:c.5473-1087_5473-1086insTTTTTTTTTTTTTTTT NM_014611.3:c.5473-1087_5473-1086insTTTTTTTTTTTTTTTTT NM_014611.3:c.5473-1087_5473-1086insTTTTTTTTTTTTTTTTTT NM_014611.3:c.5473-1087_5473-1086insTTTTTTTTTTTTTTTTTTT NM_014611.3:c.5473-1087_5473-1086insTTTTTTTTTTTTTTTTTTTT NM_014611.3:c.5473-1087_5473-1086insTTTTTTTTTTTTTTTTTTTTT NM_014611.3:c.5473-1087_5473-1086insTTTTTTTTTTTTTTTTTTTTTT NM_014611.3:c.5473-1087_5473-1086insTTTTTTTTTTTTTTTTTTTTTTT NM_014611.3:c.5473-1087_5473-1086insTTTTTTTTTTTTTTTTTTTTTTTT NM_014611.3:c.5473-1087_5473-1086insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_014611.3:c.5473-1087_5473-1086insTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTT NM_014611.3:c.5473-1087_5473-1086insTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT NM_014611.3:c.5473-1087_5473-1086insTTTTTTTTTTTTTTTCTTTTT NM_014611.3:c.5473-1087_5473-1086insTTTTTTTTTTTTTTTTTTTTTTCTTTTT NM_014611.3:c.5473-1087_5473-1086insTTTTTTTTTTTTTTTTTTTTTTCTTTT NM_014611.3:c.5473-1087_5473-1086insTTTTTTTTTTTTTTTCTTTTTCTTTT
MDN1 transcript variant X1 XM_005248699.1:c.400-1087= XM_005248699.1:c.400-1090_400-1087del XM_005248699.1:c.400-1088_400-1087del XM_005248699.1:c.400-1087del XM_005248699.1:c.400-1087dup XM_005248699.1:c.400-1088_400-1087dup XM_005248699.1:c.400-1089_400-1087dup XM_005248699.1:c.400-1090_400-1087dup XM_005248699.1:c.400-1092_400-1087dup XM_005248699.1:c.400-1093_400-1087dup XM_005248699.1:c.400-1094_400-1087dup XM_005248699.1:c.400-1095_400-1087dup XM_005248699.1:c.400-1096_400-1087dup XM_005248699.1:c.400-1097_400-1087dup XM_005248699.1:c.400-1098_400-1087dup XM_005248699.1:c.400-1087_400-1086insTTTTTTTTTTTTTTT XM_005248699.1:c.400-1087_400-1086insTTTTTTTTTTTTTTTT XM_005248699.1:c.400-1087_400-1086insTTTTTTTTTTTTTTTTT XM_005248699.1:c.400-1087_400-1086insTTTTTTTTTTTTTTTTTT XM_005248699.1:c.400-1087_400-1086insTTTTTTTTTTTTTTTTTTT XM_005248699.1:c.400-1087_400-1086insTTTTTTTTTTTTTTTTTTTT XM_005248699.1:c.400-1087_400-1086insTTTTTTTTTTTTTTTTTTTTT XM_005248699.1:c.400-1087_400-1086insTTTTTTTTTTTTTTTTTTTTTT XM_005248699.1:c.400-1087_400-1086insTTTTTTTTTTTTTTTTTTTTTTT XM_005248699.1:c.400-1087_400-1086insTTTTTTTTTTTTTTTTTTTTTTTT XM_005248699.1:c.400-1087_400-1086insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005248699.1:c.400-1087_400-1086insTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTT XM_005248699.1:c.400-1087_400-1086insTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT XM_005248699.1:c.400-1087_400-1086insTTTTTTTTTTTTTTTCTTTTT XM_005248699.1:c.400-1087_400-1086insTTTTTTTTTTTTTTTTTTTTTTCTTTTT XM_005248699.1:c.400-1087_400-1086insTTTTTTTTTTTTTTTTTTTTTTCTTTT XM_005248699.1:c.400-1087_400-1086insTTTTTTTTTTTTTTTCTTTTTCTTTT
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

58 SubSNP, 38 Frequency submissions
No Submitter Submission ID Date (Build)
1 GMI ss288784792 May 04, 2012 (137)
2 SSMP ss663723374 Apr 01, 2015 (144)
3 BILGI_BIOE ss666364966 Apr 25, 2013 (138)
4 1000GENOMES ss1375824643 Aug 21, 2014 (142)
5 EVA_GENOME_DK ss1576807734 Apr 01, 2015 (144)
6 SWEGEN ss2999521642 Nov 08, 2017 (151)
7 EVA_DECODE ss3717745063 Jul 13, 2019 (153)
8 EVA_DECODE ss3717745064 Jul 13, 2019 (153)
9 EVA_DECODE ss3717745065 Jul 13, 2019 (153)
10 ACPOP ss3733747343 Jul 13, 2019 (153)
11 ACPOP ss3733747344 Jul 13, 2019 (153)
12 INMEGENXS ss3745685118 Jul 13, 2019 (153)
13 PACBIO ss3785549836 Jul 13, 2019 (153)
14 PACBIO ss3790889604 Jul 13, 2019 (153)
15 PACBIO ss3795768764 Jul 13, 2019 (153)
16 KHV_HUMAN_GENOMES ss3808495701 Jul 13, 2019 (153)
17 EVA ss3830063626 Apr 26, 2020 (154)
18 GNOMAD ss4146550088 Apr 26, 2021 (155)
19 GNOMAD ss4146550089 Apr 26, 2021 (155)
20 GNOMAD ss4146550090 Apr 26, 2021 (155)
21 GNOMAD ss4146550091 Apr 26, 2021 (155)
22 GNOMAD ss4146550092 Apr 26, 2021 (155)
23 GNOMAD ss4146550093 Apr 26, 2021 (155)
24 GNOMAD ss4146550094 Apr 26, 2021 (155)
25 GNOMAD ss4146550095 Apr 26, 2021 (155)
26 GNOMAD ss4146550096 Apr 26, 2021 (155)
27 GNOMAD ss4146550097 Apr 26, 2021 (155)
28 GNOMAD ss4146550098 Apr 26, 2021 (155)
29 GNOMAD ss4146550099 Apr 26, 2021 (155)
30 GNOMAD ss4146550100 Apr 26, 2021 (155)
31 GNOMAD ss4146550101 Apr 26, 2021 (155)
32 GNOMAD ss4146550102 Apr 26, 2021 (155)
33 GNOMAD ss4146550103 Apr 26, 2021 (155)
34 GNOMAD ss4146550104 Apr 26, 2021 (155)
35 GNOMAD ss4146550105 Apr 26, 2021 (155)
36 GNOMAD ss4146550106 Apr 26, 2021 (155)
37 GNOMAD ss4146550107 Apr 26, 2021 (155)
38 GNOMAD ss4146550108 Apr 26, 2021 (155)
39 GNOMAD ss4146550109 Apr 26, 2021 (155)
40 GNOMAD ss4146550110 Apr 26, 2021 (155)
41 GNOMAD ss4146550111 Apr 26, 2021 (155)
42 GNOMAD ss4146550112 Apr 26, 2021 (155)
43 GNOMAD ss4146550118 Apr 26, 2021 (155)
44 GNOMAD ss4146550119 Apr 26, 2021 (155)
45 TOMMO_GENOMICS ss5178721405 Apr 26, 2021 (155)
46 TOMMO_GENOMICS ss5178721406 Apr 26, 2021 (155)
47 TOMMO_GENOMICS ss5178721408 Apr 26, 2021 (155)
48 1000G_HIGH_COVERAGE ss5269405607 Oct 14, 2022 (156)
49 1000G_HIGH_COVERAGE ss5269405608 Oct 14, 2022 (156)
50 HUGCELL_USP ss5466939453 Oct 14, 2022 (156)
51 HUGCELL_USP ss5466939454 Oct 14, 2022 (156)
52 EVA ss5508610233 Oct 14, 2022 (156)
53 TOMMO_GENOMICS ss5717252117 Oct 14, 2022 (156)
54 TOMMO_GENOMICS ss5717252119 Oct 14, 2022 (156)
55 TOMMO_GENOMICS ss5717252121 Oct 14, 2022 (156)
56 EVA ss5842627257 Oct 14, 2022 (156)
57 EVA ss5842627258 Oct 14, 2022 (156)
58 EVA ss5855467558 Oct 14, 2022 (156)
59 1000Genomes NC_000006.11 - 90436202 Oct 12, 2018 (152)
60 The Danish reference pan genome NC_000006.11 - 90436202 Apr 26, 2020 (154)
61 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 233146275 (NC_000006.12:89726482::A 781/83806)
Row 233146276 (NC_000006.12:89726482::AA 1/83850)
Row 233146277 (NC_000006.12:89726482::AAAA 1/83850)...

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

Submission ignored due to conflicting rows:
Row 233146275 (NC_000006.12:89726482::A 781/83806)
Row 233146276 (NC_000006.12:89726482::AA 1/83850)
Row 233146277 (NC_000006.12:89726482::AAAA 1/83850)...

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

Submission ignored due to conflicting rows:
Row 233146275 (NC_000006.12:89726482::A 781/83806)
Row 233146276 (NC_000006.12:89726482::AA 1/83850)
Row 233146277 (NC_000006.12:89726482::AAAA 1/83850)...

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

Submission ignored due to conflicting rows:
Row 233146275 (NC_000006.12:89726482::A 781/83806)
Row 233146276 (NC_000006.12:89726482::AA 1/83850)
Row 233146277 (NC_000006.12:89726482::AAAA 1/83850)...

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

Submission ignored due to conflicting rows:
Row 233146275 (NC_000006.12:89726482::A 781/83806)
Row 233146276 (NC_000006.12:89726482::AA 1/83850)
Row 233146277 (NC_000006.12:89726482::AAAA 1/83850)...

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

Submission ignored due to conflicting rows:
Row 233146275 (NC_000006.12:89726482::A 781/83806)
Row 233146276 (NC_000006.12:89726482::AA 1/83850)
Row 233146277 (NC_000006.12:89726482::AAAA 1/83850)...

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

Submission ignored due to conflicting rows:
Row 233146275 (NC_000006.12:89726482::A 781/83806)
Row 233146276 (NC_000006.12:89726482::AA 1/83850)
Row 233146277 (NC_000006.12:89726482::AAAA 1/83850)...

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

Submission ignored due to conflicting rows:
Row 233146275 (NC_000006.12:89726482::A 781/83806)
Row 233146276 (NC_000006.12:89726482::AA 1/83850)
Row 233146277 (NC_000006.12:89726482::AAAA 1/83850)...

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

Submission ignored due to conflicting rows:
Row 233146275 (NC_000006.12:89726482::A 781/83806)
Row 233146276 (NC_000006.12:89726482::AA 1/83850)
Row 233146277 (NC_000006.12:89726482::AAAA 1/83850)...

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

Submission ignored due to conflicting rows:
Row 233146275 (NC_000006.12:89726482::A 781/83806)
Row 233146276 (NC_000006.12:89726482::AA 1/83850)
Row 233146277 (NC_000006.12:89726482::AAAA 1/83850)...

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

Submission ignored due to conflicting rows:
Row 233146275 (NC_000006.12:89726482::A 781/83806)
Row 233146276 (NC_000006.12:89726482::AA 1/83850)
Row 233146277 (NC_000006.12:89726482::AAAA 1/83850)...

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

Submission ignored due to conflicting rows:
Row 233146275 (NC_000006.12:89726482::A 781/83806)
Row 233146276 (NC_000006.12:89726482::AA 1/83850)
Row 233146277 (NC_000006.12:89726482::AAAA 1/83850)...

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

Submission ignored due to conflicting rows:
Row 233146275 (NC_000006.12:89726482::A 781/83806)
Row 233146276 (NC_000006.12:89726482::AA 1/83850)
Row 233146277 (NC_000006.12:89726482::AAAA 1/83850)...

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

Submission ignored due to conflicting rows:
Row 233146275 (NC_000006.12:89726482::A 781/83806)
Row 233146276 (NC_000006.12:89726482::AA 1/83850)
Row 233146277 (NC_000006.12:89726482::AAAA 1/83850)...

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

Submission ignored due to conflicting rows:
Row 233146275 (NC_000006.12:89726482::A 781/83806)
Row 233146276 (NC_000006.12:89726482::AA 1/83850)
Row 233146277 (NC_000006.12:89726482::AAAA 1/83850)...

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

Submission ignored due to conflicting rows:
Row 233146275 (NC_000006.12:89726482::A 781/83806)
Row 233146276 (NC_000006.12:89726482::AA 1/83850)
Row 233146277 (NC_000006.12:89726482::AAAA 1/83850)...

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

Submission ignored due to conflicting rows:
Row 233146275 (NC_000006.12:89726482::A 781/83806)
Row 233146276 (NC_000006.12:89726482::AA 1/83850)
Row 233146277 (NC_000006.12:89726482::AAAA 1/83850)...

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

Submission ignored due to conflicting rows:
Row 233146275 (NC_000006.12:89726482::A 781/83806)
Row 233146276 (NC_000006.12:89726482::AA 1/83850)
Row 233146277 (NC_000006.12:89726482::AAAA 1/83850)...

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

Submission ignored due to conflicting rows:
Row 233146275 (NC_000006.12:89726482::A 781/83806)
Row 233146276 (NC_000006.12:89726482::AA 1/83850)
Row 233146277 (NC_000006.12:89726482::AAAA 1/83850)...

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

Submission ignored due to conflicting rows:
Row 233146275 (NC_000006.12:89726482::A 781/83806)
Row 233146276 (NC_000006.12:89726482::AA 1/83850)
Row 233146277 (NC_000006.12:89726482::AAAA 1/83850)...

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

Submission ignored due to conflicting rows:
Row 233146275 (NC_000006.12:89726482::A 781/83806)
Row 233146276 (NC_000006.12:89726482::AA 1/83850)
Row 233146277 (NC_000006.12:89726482::AAAA 1/83850)...

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

Submission ignored due to conflicting rows:
Row 233146275 (NC_000006.12:89726482::A 781/83806)
Row 233146276 (NC_000006.12:89726482::AA 1/83850)
Row 233146277 (NC_000006.12:89726482::AAAA 1/83850)...

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

Submission ignored due to conflicting rows:
Row 233146275 (NC_000006.12:89726482::A 781/83806)
Row 233146276 (NC_000006.12:89726482::AA 1/83850)
Row 233146277 (NC_000006.12:89726482::AAAA 1/83850)...

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

Submission ignored due to conflicting rows:
Row 233146275 (NC_000006.12:89726482::A 781/83806)
Row 233146276 (NC_000006.12:89726482::AA 1/83850)
Row 233146277 (NC_000006.12:89726482::AAAA 1/83850)...

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

Submission ignored due to conflicting rows:
Row 233146275 (NC_000006.12:89726482::A 781/83806)
Row 233146276 (NC_000006.12:89726482::AA 1/83850)
Row 233146277 (NC_000006.12:89726482::AAAA 1/83850)...

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

Submission ignored due to conflicting rows:
Row 233146275 (NC_000006.12:89726482::A 781/83806)
Row 233146276 (NC_000006.12:89726482::AA 1/83850)
Row 233146277 (NC_000006.12:89726482::AAAA 1/83850)...

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

Submission ignored due to conflicting rows:
Row 233146275 (NC_000006.12:89726482::A 781/83806)
Row 233146276 (NC_000006.12:89726482::AA 1/83850)
Row 233146277 (NC_000006.12:89726482::AAAA 1/83850)...

- Apr 26, 2021 (155)
88 Northern Sweden

Submission ignored due to conflicting rows:
Row 7032208 (NC_000006.11:90436201:A: 96/584)
Row 7032209 (NC_000006.11:90436201::AAAAAAAAAAAAAAAAA 2/584)

- Jul 13, 2019 (153)
89 Northern Sweden

Submission ignored due to conflicting rows:
Row 7032208 (NC_000006.11:90436201:A: 96/584)
Row 7032209 (NC_000006.11:90436201::AAAAAAAAAAAAAAAAA 2/584)

- Jul 13, 2019 (153)
90 8.3KJPN

Submission ignored due to conflicting rows:
Row 36690712 (NC_000006.11:90436201:A: 2899/16750)
Row 36690713 (NC_000006.11:90436201::A 22/16750)
Row 36690715 (NC_000006.11:90436201::AAAAAAAAAAAAAAAAAAAAAA 3/16750)

- Apr 26, 2021 (155)
91 8.3KJPN

Submission ignored due to conflicting rows:
Row 36690712 (NC_000006.11:90436201:A: 2899/16750)
Row 36690713 (NC_000006.11:90436201::A 22/16750)
Row 36690715 (NC_000006.11:90436201::AAAAAAAAAAAAAAAAAAAAAA 3/16750)

- Apr 26, 2021 (155)
92 8.3KJPN

Submission ignored due to conflicting rows:
Row 36690712 (NC_000006.11:90436201:A: 2899/16750)
Row 36690713 (NC_000006.11:90436201::A 22/16750)
Row 36690715 (NC_000006.11:90436201::AAAAAAAAAAAAAAAAAAAAAA 3/16750)

- Apr 26, 2021 (155)
93 14KJPN

Submission ignored due to conflicting rows:
Row 51089221 (NC_000006.12:89726482:A: 3781/25260)
Row 51089223 (NC_000006.12:89726482::A 29/25260)
Row 51089225 (NC_000006.12:89726482::AAAAAAAAAAAAAAAAA 4/25260)

- Oct 14, 2022 (156)
94 14KJPN

Submission ignored due to conflicting rows:
Row 51089221 (NC_000006.12:89726482:A: 3781/25260)
Row 51089223 (NC_000006.12:89726482::A 29/25260)
Row 51089225 (NC_000006.12:89726482::AAAAAAAAAAAAAAAAA 4/25260)

- Oct 14, 2022 (156)
95 14KJPN

Submission ignored due to conflicting rows:
Row 51089221 (NC_000006.12:89726482:A: 3781/25260)
Row 51089223 (NC_000006.12:89726482::A 29/25260)
Row 51089225 (NC_000006.12:89726482::AAAAAAAAAAAAAAAAA 4/25260)

- Oct 14, 2022 (156)
96 ALFA NC_000006.12 - 89726483 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
14613278731 NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAA

NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAA

(self)
ss4146550119 NC_000006.12:89726482:AA: NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
14613278731 NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAA

NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss288784792 NC_000006.10:90492922:A: NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
33038559, 1091611, ss663723374, ss666364966, ss1375824643, ss1576807734, ss2999521642, ss3733747343, ss3785549836, ss3790889604, ss3795768764, ss3830063626, ss5178721405, ss5842627257 NC_000006.11:90436201:A: NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss3717745065, ss3808495701, ss4146550118, ss5269405607, ss5466939453, ss5717252117, ss5855467558 NC_000006.12:89726482:A: NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
14613278731 NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAA

NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss3745685118, ss5178721406, ss5508610233 NC_000006.11:90436201::A NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss4146550088, ss5269405608, ss5466939454, ss5717252119 NC_000006.12:89726482::A NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
14613278731 NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3717745064 NC_000006.12:89726483::A NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss4146550089 NC_000006.12:89726482::AA NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
14613278731 NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3717745063 NC_000006.12:89726483::AAA NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss4146550090 NC_000006.12:89726482::AAAA NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
14613278731 NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss5842627258 NC_000006.11:90436201::AAAAAA NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

ss4146550091 NC_000006.12:89726482::AAAAAAA NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss4146550092 NC_000006.12:89726482::AAAAAAAA NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss4146550093 NC_000006.12:89726482::AAAAAAAAA NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4146550094 NC_000006.12:89726482::AAAAAAAAAA NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4146550095 NC_000006.12:89726482::AAAAAAAAAAA NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4146550096 NC_000006.12:89726482::AAAAAAAAAAAA NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4146550097 NC_000006.12:89726482::AAAAAAAAAAA…

NC_000006.12:89726482::AAAAAAAAAAAAAAA

NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4146550098 NC_000006.12:89726482::AAAAAAAAAAA…

NC_000006.12:89726482::AAAAAAAAAAAAAAAA

NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3733747344 NC_000006.11:90436201::AAAAAAAAAAA…

NC_000006.11:90436201::AAAAAAAAAAAAAAAAA

NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4146550099, ss5717252121 NC_000006.12:89726482::AAAAAAAAAAA…

NC_000006.12:89726482::AAAAAAAAAAAAAAAAA

NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
14613278731 NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4146550100 NC_000006.12:89726482::AAAAAAAAAAA…

NC_000006.12:89726482::AAAAAAAAAAAAAAAAAA

NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4146550101 NC_000006.12:89726482::AAAAAAAAAAA…

NC_000006.12:89726482::AAAAAAAAAAAAAAAAAAA

NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4146550102 NC_000006.12:89726482::AAAAAAAAAAA…

NC_000006.12:89726482::AAAAAAAAAAAAAAAAAAAA

NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4146550103 NC_000006.12:89726482::AAAAAAAAAAA…

NC_000006.12:89726482::AAAAAAAAAAAAAAAAAAAAA

NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss5178721408 NC_000006.11:90436201::AAAAAAAAAAA…

NC_000006.11:90436201::AAAAAAAAAAAAAAAAAAAAAA

NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4146550104 NC_000006.12:89726482::AAAAAAAAAAA…

NC_000006.12:89726482::AAAAAAAAAAAAAAAAAAAAAA

NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4146550105 NC_000006.12:89726482::AAAAAAAAAAA…

NC_000006.12:89726482::AAAAAAAAAAAAAAAAAAAAAAA

NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
14613278731 NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4146550106 NC_000006.12:89726482::AAAAAAAAAAA…

NC_000006.12:89726482::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4146550107 NC_000006.12:89726482::AAAAAAAAAAA…

NC_000006.12:89726482::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAA

NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAA

(self)
ss4146550108 NC_000006.12:89726482::AAAAAAAAAAA…

NC_000006.12:89726482::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAA

NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4146550109 NC_000006.12:89726482::AAAAAAAAAAA…

NC_000006.12:89726482::AAAAAAAAAAAAAAAAAAAGA

NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAA

(self)
ss4146550110 NC_000006.12:89726482::AAAAAAAAAAA…

NC_000006.12:89726482::AAAAAAAAAAAAAAAAAAAGAAAAAAAA

NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA

(self)
14613278731 NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA

NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4146550111 NC_000006.12:89726482::AAAAAAAAAAA…

NC_000006.12:89726482::AAAAAAAAAAAAAAAAAAGAAAAAAAA

NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4146550112 NC_000006.12:89726482::AAAAAAAAAAA…

NC_000006.12:89726482::AAAAAAAAAAAAAAAAAAGAAAAAGA

NC_000006.12:89726482:AAAAAAAAAAAA…

NC_000006.12:89726482:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAGAAAAAGAAAAAAAAAAAAAAA

(self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs201576721

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