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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.

rs133430

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr22:35421128-35421151 (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)14 / del(A)12 / del(A)11 / d…

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

Variation Type
Indel Insertion and Deletion
Frequency
del(A)12=0.000004 (1/264690, TOPMED)
delAA=0.2034 (1217/5984, ALFA)
delAA=0.4986 (2497/5008, 1000G)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MCM5 : 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 5984 AAAAAAAAAAAAAAAAAAAAAAAA=0.6898 AAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0028, AAAAAAAAAAAAAAAAAAAAAA=0.2034, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0926, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0067, AAAAAAAAAAAAAAAAAAAAAAA=0.0037, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0010 0.638743 0.061619 0.299638 14
European Sub 5556 AAAAAAAAAAAAAAAAAAAAAAAA=0.6663 AAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0031, AAAAAAAAAAAAAAAAAAAAAA=0.2190, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0994, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0072, AAAAAAAAAAAAAAAAAAAAAAA=0.0040, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0011 0.60502 0.067371 0.327609 8
African Sub 42 AAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African Others Sub 0 AAAAAAAAAAAAAAAAAAAAAAAA=0 AAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
African American Sub 42 AAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Asian Sub 44 AAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
East Asian Sub 34 AAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 10 AAAAAAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Latin American 1 Sub 12 AAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 224 AAAAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 28 AAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 78 AAAAAAAAAAAAAAAAAAAAAAAA=0.97 AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.03, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 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
TopMed Global Study-wide 264690 (A)24=0.999996 del(A)12=0.000004
Allele Frequency Aggregator Total Global 5984 (A)24=0.6898 del(A)14=0.0000, del(A)12=0.0000, del(A)11=0.0000, del(A)10=0.0000, del(A)9=0.0000, del(A)8=0.0000, del(A)7=0.0000, del(A)5=0.0000, del(A)4=0.0000, delAAA=0.0028, delAA=0.2034, delA=0.0037, dupA=0.0926, dupAA=0.0067, dupAAA=0.0010
Allele Frequency Aggregator European Sub 5556 (A)24=0.6663 del(A)14=0.0000, del(A)12=0.0000, del(A)11=0.0000, del(A)10=0.0000, del(A)9=0.0000, del(A)8=0.0000, del(A)7=0.0000, del(A)5=0.0000, del(A)4=0.0000, delAAA=0.0031, delAA=0.2190, delA=0.0040, dupA=0.0994, dupAA=0.0072, dupAAA=0.0011
Allele Frequency Aggregator Latin American 2 Sub 224 (A)24=1.000 del(A)14=0.000, del(A)12=0.000, del(A)11=0.000, del(A)10=0.000, del(A)9=0.000, del(A)8=0.000, del(A)7=0.000, del(A)5=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator Other Sub 78 (A)24=0.97 del(A)14=0.00, del(A)12=0.00, del(A)11=0.00, del(A)10=0.00, del(A)9=0.00, del(A)8=0.00, del(A)7=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.03, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator Asian Sub 44 (A)24=1.00 del(A)14=0.00, del(A)12=0.00, del(A)11=0.00, del(A)10=0.00, del(A)9=0.00, del(A)8=0.00, del(A)7=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator African Sub 42 (A)24=1.00 del(A)14=0.00, del(A)12=0.00, del(A)11=0.00, del(A)10=0.00, del(A)9=0.00, del(A)8=0.00, del(A)7=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator South Asian Sub 28 (A)24=1.00 del(A)14=0.00, del(A)12=0.00, del(A)11=0.00, del(A)10=0.00, del(A)9=0.00, del(A)8=0.00, del(A)7=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator Latin American 1 Sub 12 (A)24=1.00 del(A)14=0.00, del(A)12=0.00, del(A)11=0.00, del(A)10=0.00, del(A)9=0.00, del(A)8=0.00, del(A)7=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
1000Genomes Global Study-wide 5008 (A)24=0.5014 delAA=0.4986
1000Genomes African Sub 1322 (A)24=0.3147 delAA=0.6853
1000Genomes East Asian Sub 1008 (A)24=0.5665 delAA=0.4335
1000Genomes Europe Sub 1006 (A)24=0.4732 delAA=0.5268
1000Genomes South Asian Sub 978 (A)24=0.648 delAA=0.352
1000Genomes American Sub 694 (A)24=0.597 delAA=0.403
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 22 NC_000022.11:g.35421138_35421151del
GRCh38.p14 chr 22 NC_000022.11:g.35421140_35421151del
GRCh38.p14 chr 22 NC_000022.11:g.35421141_35421151del
GRCh38.p14 chr 22 NC_000022.11:g.35421142_35421151del
GRCh38.p14 chr 22 NC_000022.11:g.35421143_35421151del
GRCh38.p14 chr 22 NC_000022.11:g.35421144_35421151del
GRCh38.p14 chr 22 NC_000022.11:g.35421145_35421151del
GRCh38.p14 chr 22 NC_000022.11:g.35421147_35421151del
GRCh38.p14 chr 22 NC_000022.11:g.35421148_35421151del
GRCh38.p14 chr 22 NC_000022.11:g.35421149_35421151del
GRCh38.p14 chr 22 NC_000022.11:g.35421150_35421151del
GRCh38.p14 chr 22 NC_000022.11:g.35421151del
GRCh38.p14 chr 22 NC_000022.11:g.35421151dup
GRCh38.p14 chr 22 NC_000022.11:g.35421150_35421151dup
GRCh38.p14 chr 22 NC_000022.11:g.35421149_35421151dup
GRCh38.p14 chr 22 NC_000022.11:g.35421148_35421151dup
GRCh38.p14 chr 22 NC_000022.11:g.35421139_35421151dup
GRCh37.p13 chr 22 NC_000022.10:g.35817131_35817144del
GRCh37.p13 chr 22 NC_000022.10:g.35817133_35817144del
GRCh37.p13 chr 22 NC_000022.10:g.35817134_35817144del
GRCh37.p13 chr 22 NC_000022.10:g.35817135_35817144del
GRCh37.p13 chr 22 NC_000022.10:g.35817136_35817144del
GRCh37.p13 chr 22 NC_000022.10:g.35817137_35817144del
GRCh37.p13 chr 22 NC_000022.10:g.35817138_35817144del
GRCh37.p13 chr 22 NC_000022.10:g.35817140_35817144del
GRCh37.p13 chr 22 NC_000022.10:g.35817141_35817144del
GRCh37.p13 chr 22 NC_000022.10:g.35817142_35817144del
GRCh37.p13 chr 22 NC_000022.10:g.35817143_35817144del
GRCh37.p13 chr 22 NC_000022.10:g.35817144del
GRCh37.p13 chr 22 NC_000022.10:g.35817144dup
GRCh37.p13 chr 22 NC_000022.10:g.35817143_35817144dup
GRCh37.p13 chr 22 NC_000022.10:g.35817142_35817144dup
GRCh37.p13 chr 22 NC_000022.10:g.35817141_35817144dup
GRCh37.p13 chr 22 NC_000022.10:g.35817132_35817144dup
Gene: MCM5, minichromosome maintenance complex component 5 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
MCM5 transcript NM_006739.4:c.1833-180_18…

NM_006739.4:c.1833-180_1833-167del

N/A Intron Variant
MCM5 transcript variant X1 XM_006724242.5:c.1833-180…

XM_006724242.5:c.1833-180_1833-167del

N/A Intron Variant
MCM5 transcript variant X2 XM_047441366.1:c.1833-180…

XM_047441366.1:c.1833-180_1833-167del

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)24= del(A)14 del(A)12 del(A)11 del(A)10 del(A)9 del(A)8 del(A)7 del(A)5 del(A)4 delAAA delAA delA dupA dupAA dupAAA dup(A)4 dup(A)13
GRCh38.p14 chr 22 NC_000022.11:g.35421128_35421151= NC_000022.11:g.35421138_35421151del NC_000022.11:g.35421140_35421151del NC_000022.11:g.35421141_35421151del NC_000022.11:g.35421142_35421151del NC_000022.11:g.35421143_35421151del NC_000022.11:g.35421144_35421151del NC_000022.11:g.35421145_35421151del NC_000022.11:g.35421147_35421151del NC_000022.11:g.35421148_35421151del NC_000022.11:g.35421149_35421151del NC_000022.11:g.35421150_35421151del NC_000022.11:g.35421151del NC_000022.11:g.35421151dup NC_000022.11:g.35421150_35421151dup NC_000022.11:g.35421149_35421151dup NC_000022.11:g.35421148_35421151dup NC_000022.11:g.35421139_35421151dup
GRCh37.p13 chr 22 NC_000022.10:g.35817121_35817144= NC_000022.10:g.35817131_35817144del NC_000022.10:g.35817133_35817144del NC_000022.10:g.35817134_35817144del NC_000022.10:g.35817135_35817144del NC_000022.10:g.35817136_35817144del NC_000022.10:g.35817137_35817144del NC_000022.10:g.35817138_35817144del NC_000022.10:g.35817140_35817144del NC_000022.10:g.35817141_35817144del NC_000022.10:g.35817142_35817144del NC_000022.10:g.35817143_35817144del NC_000022.10:g.35817144del NC_000022.10:g.35817144dup NC_000022.10:g.35817143_35817144dup NC_000022.10:g.35817142_35817144dup NC_000022.10:g.35817141_35817144dup NC_000022.10:g.35817132_35817144dup
MCM5 transcript NM_006739.3:c.1833-190= NM_006739.3:c.1833-180_1833-167del NM_006739.3:c.1833-178_1833-167del NM_006739.3:c.1833-177_1833-167del NM_006739.3:c.1833-176_1833-167del NM_006739.3:c.1833-175_1833-167del NM_006739.3:c.1833-174_1833-167del NM_006739.3:c.1833-173_1833-167del NM_006739.3:c.1833-171_1833-167del NM_006739.3:c.1833-170_1833-167del NM_006739.3:c.1833-169_1833-167del NM_006739.3:c.1833-168_1833-167del NM_006739.3:c.1833-167del NM_006739.3:c.1833-167dup NM_006739.3:c.1833-168_1833-167dup NM_006739.3:c.1833-169_1833-167dup NM_006739.3:c.1833-170_1833-167dup NM_006739.3:c.1833-179_1833-167dup
MCM5 transcript NM_006739.4:c.1833-190= NM_006739.4:c.1833-180_1833-167del NM_006739.4:c.1833-178_1833-167del NM_006739.4:c.1833-177_1833-167del NM_006739.4:c.1833-176_1833-167del NM_006739.4:c.1833-175_1833-167del NM_006739.4:c.1833-174_1833-167del NM_006739.4:c.1833-173_1833-167del NM_006739.4:c.1833-171_1833-167del NM_006739.4:c.1833-170_1833-167del NM_006739.4:c.1833-169_1833-167del NM_006739.4:c.1833-168_1833-167del NM_006739.4:c.1833-167del NM_006739.4:c.1833-167dup NM_006739.4:c.1833-168_1833-167dup NM_006739.4:c.1833-169_1833-167dup NM_006739.4:c.1833-170_1833-167dup NM_006739.4:c.1833-179_1833-167dup
MCM5 transcript variant X1 XM_005261606.1:c.1704-190= XM_005261606.1:c.1704-180_1704-167del XM_005261606.1:c.1704-178_1704-167del XM_005261606.1:c.1704-177_1704-167del XM_005261606.1:c.1704-176_1704-167del XM_005261606.1:c.1704-175_1704-167del XM_005261606.1:c.1704-174_1704-167del XM_005261606.1:c.1704-173_1704-167del XM_005261606.1:c.1704-171_1704-167del XM_005261606.1:c.1704-170_1704-167del XM_005261606.1:c.1704-169_1704-167del XM_005261606.1:c.1704-168_1704-167del XM_005261606.1:c.1704-167del XM_005261606.1:c.1704-167dup XM_005261606.1:c.1704-168_1704-167dup XM_005261606.1:c.1704-169_1704-167dup XM_005261606.1:c.1704-170_1704-167dup XM_005261606.1:c.1704-179_1704-167dup
MCM5 transcript variant X1 XM_006724242.5:c.1833-190= XM_006724242.5:c.1833-180_1833-167del XM_006724242.5:c.1833-178_1833-167del XM_006724242.5:c.1833-177_1833-167del XM_006724242.5:c.1833-176_1833-167del XM_006724242.5:c.1833-175_1833-167del XM_006724242.5:c.1833-174_1833-167del XM_006724242.5:c.1833-173_1833-167del XM_006724242.5:c.1833-171_1833-167del XM_006724242.5:c.1833-170_1833-167del XM_006724242.5:c.1833-169_1833-167del XM_006724242.5:c.1833-168_1833-167del XM_006724242.5:c.1833-167del XM_006724242.5:c.1833-167dup XM_006724242.5:c.1833-168_1833-167dup XM_006724242.5:c.1833-169_1833-167dup XM_006724242.5:c.1833-170_1833-167dup XM_006724242.5:c.1833-179_1833-167dup
MCM5 transcript variant X2 XM_047441366.1:c.1833-190= XM_047441366.1:c.1833-180_1833-167del XM_047441366.1:c.1833-178_1833-167del XM_047441366.1:c.1833-177_1833-167del XM_047441366.1:c.1833-176_1833-167del XM_047441366.1:c.1833-175_1833-167del XM_047441366.1:c.1833-174_1833-167del XM_047441366.1:c.1833-173_1833-167del XM_047441366.1:c.1833-171_1833-167del XM_047441366.1:c.1833-170_1833-167del XM_047441366.1:c.1833-169_1833-167del XM_047441366.1:c.1833-168_1833-167del XM_047441366.1:c.1833-167del XM_047441366.1:c.1833-167dup XM_047441366.1:c.1833-168_1833-167dup XM_047441366.1:c.1833-169_1833-167dup XM_047441366.1:c.1833-170_1833-167dup XM_047441366.1:c.1833-179_1833-167dup
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#.

74 SubSNP, 32 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC ss141255 Jun 24, 2000 (78)
2 ABI ss41518043 Dec 03, 2013 (138)
3 ABI ss41523733 Mar 15, 2016 (147)
4 ABI ss41546638 Dec 03, 2013 (138)
5 HGSV ss77879854 Aug 21, 2014 (142)
6 HGSV ss77963216 Aug 21, 2014 (142)
7 HGSV ss80325321 Dec 14, 2007 (130)
8 HGSV ss80448571 Aug 21, 2014 (142)
9 HGSV ss80544685 Dec 14, 2007 (130)
10 HGSV ss80753872 Dec 14, 2007 (130)
11 HGSV ss80825155 Dec 14, 2007 (130)
12 HGSV ss82883658 Dec 14, 2007 (130)
13 HUMANGENOME_JCVI ss95757628 Dec 05, 2013 (138)
14 HUMANGENOME_JCVI ss96110366 Oct 12, 2018 (152)
15 PJP ss295078186 Sep 08, 2015 (146)
16 PJP ss295078187 Oct 12, 2018 (152)
17 SSMP ss664525366 Apr 01, 2015 (144)
18 SSIP ss947416915 Aug 21, 2014 (142)
19 1000GENOMES ss1379022648 Jan 10, 2018 (151)
20 EVA_UK10K_ALSPAC ss1709587416 Apr 01, 2015 (144)
21 EVA_UK10K_TWINSUK ss1709587485 Apr 01, 2015 (144)
22 EVA_UK10K_TWINSUK ss1710843727 Apr 01, 2015 (144)
23 EVA_UK10K_ALSPAC ss1710843729 Apr 01, 2015 (144)
24 SWEGEN ss3019294458 Nov 08, 2017 (151)
25 EVA_DECODE ss3708189621 Jul 13, 2019 (153)
26 EVA_DECODE ss3708189622 Jul 13, 2019 (153)
27 EVA_DECODE ss3708189623 Jul 13, 2019 (153)
28 EVA_DECODE ss3708189624 Jul 13, 2019 (153)
29 EVA_DECODE ss3708189625 Jul 13, 2019 (153)
30 EVA_DECODE ss3708189626 Jul 13, 2019 (153)
31 PACBIO ss3793691533 Jul 13, 2019 (153)
32 PACBIO ss3798578006 Jul 13, 2019 (153)
33 KHV_HUMAN_GENOMES ss3822540086 Jul 13, 2019 (153)
34 KHV_HUMAN_GENOMES ss3822540087 Jul 13, 2019 (153)
35 EVA ss3835989540 Apr 27, 2020 (154)
36 GNOMAD ss4364509032 Apr 26, 2021 (155)
37 GNOMAD ss4364509033 Apr 26, 2021 (155)
38 GNOMAD ss4364509034 Apr 26, 2021 (155)
39 GNOMAD ss4364509035 Apr 26, 2021 (155)
40 GNOMAD ss4364509036 Apr 26, 2021 (155)
41 GNOMAD ss4364509037 Apr 26, 2021 (155)
42 GNOMAD ss4364509038 Apr 26, 2021 (155)
43 GNOMAD ss4364509039 Apr 26, 2021 (155)
44 GNOMAD ss4364509040 Apr 26, 2021 (155)
45 GNOMAD ss4364509041 Apr 26, 2021 (155)
46 GNOMAD ss4364509042 Apr 26, 2021 (155)
47 GNOMAD ss4364509043 Apr 26, 2021 (155)
48 GNOMAD ss4364509044 Apr 26, 2021 (155)
49 GNOMAD ss4364509045 Apr 26, 2021 (155)
50 GNOMAD ss4364509046 Apr 26, 2021 (155)
51 TOPMED ss5109027523 Apr 26, 2021 (155)
52 TOMMO_GENOMICS ss5232600849 Apr 26, 2021 (155)
53 TOMMO_GENOMICS ss5232600850 Apr 26, 2021 (155)
54 TOMMO_GENOMICS ss5232600851 Apr 26, 2021 (155)
55 TOMMO_GENOMICS ss5232600852 Apr 26, 2021 (155)
56 TOMMO_GENOMICS ss5232600853 Apr 26, 2021 (155)
57 TOMMO_GENOMICS ss5232600854 Apr 26, 2021 (155)
58 1000G_HIGH_COVERAGE ss5311081662 Oct 16, 2022 (156)
59 1000G_HIGH_COVERAGE ss5311081664 Oct 16, 2022 (156)
60 1000G_HIGH_COVERAGE ss5311081665 Oct 16, 2022 (156)
61 1000G_HIGH_COVERAGE ss5311081666 Oct 16, 2022 (156)
62 1000G_HIGH_COVERAGE ss5311081667 Oct 16, 2022 (156)
63 HUGCELL_USP ss5502925773 Oct 16, 2022 (156)
64 HUGCELL_USP ss5502925774 Oct 16, 2022 (156)
65 HUGCELL_USP ss5502925775 Oct 16, 2022 (156)
66 HUGCELL_USP ss5502925776 Oct 16, 2022 (156)
67 TOMMO_GENOMICS ss5793712627 Oct 16, 2022 (156)
68 TOMMO_GENOMICS ss5793712628 Oct 16, 2022 (156)
69 TOMMO_GENOMICS ss5793712629 Oct 16, 2022 (156)
70 TOMMO_GENOMICS ss5793712630 Oct 16, 2022 (156)
71 EVA ss5822064879 Oct 16, 2022 (156)
72 EVA ss5822064880 Oct 16, 2022 (156)
73 EVA ss5822064881 Oct 16, 2022 (156)
74 EVA ss5881799965 Oct 16, 2022 (156)
75 1000Genomes NC_000022.10 - 35817121 Oct 12, 2018 (152)
76 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 44635839 (NC_000022.10:35817121:A: 2288/3854)
Row 44635840 (NC_000022.10:35817120:AAA: 1000/3854)

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

Submission ignored due to conflicting rows:
Row 44635839 (NC_000022.10:35817121:A: 2288/3854)
Row 44635840 (NC_000022.10:35817120:AAA: 1000/3854)

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

Submission ignored due to conflicting rows:
Row 569817464 (NC_000022.11:35421127::A 8133/80610)
Row 569817465 (NC_000022.11:35421127::AA 198/80796)
Row 569817466 (NC_000022.11:35421127::AAA 15/81006)...

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

Submission ignored due to conflicting rows:
Row 569817464 (NC_000022.11:35421127::A 8133/80610)
Row 569817465 (NC_000022.11:35421127::AA 198/80796)
Row 569817466 (NC_000022.11:35421127::AAA 15/81006)...

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

Submission ignored due to conflicting rows:
Row 569817464 (NC_000022.11:35421127::A 8133/80610)
Row 569817465 (NC_000022.11:35421127::AA 198/80796)
Row 569817466 (NC_000022.11:35421127::AAA 15/81006)...

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

Submission ignored due to conflicting rows:
Row 569817464 (NC_000022.11:35421127::A 8133/80610)
Row 569817465 (NC_000022.11:35421127::AA 198/80796)
Row 569817466 (NC_000022.11:35421127::AAA 15/81006)...

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

Submission ignored due to conflicting rows:
Row 569817464 (NC_000022.11:35421127::A 8133/80610)
Row 569817465 (NC_000022.11:35421127::AA 198/80796)
Row 569817466 (NC_000022.11:35421127::AAA 15/81006)...

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

Submission ignored due to conflicting rows:
Row 569817464 (NC_000022.11:35421127::A 8133/80610)
Row 569817465 (NC_000022.11:35421127::AA 198/80796)
Row 569817466 (NC_000022.11:35421127::AAA 15/81006)...

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

Submission ignored due to conflicting rows:
Row 569817464 (NC_000022.11:35421127::A 8133/80610)
Row 569817465 (NC_000022.11:35421127::AA 198/80796)
Row 569817466 (NC_000022.11:35421127::AAA 15/81006)...

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

Submission ignored due to conflicting rows:
Row 569817464 (NC_000022.11:35421127::A 8133/80610)
Row 569817465 (NC_000022.11:35421127::AA 198/80796)
Row 569817466 (NC_000022.11:35421127::AAA 15/81006)...

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

Submission ignored due to conflicting rows:
Row 569817464 (NC_000022.11:35421127::A 8133/80610)
Row 569817465 (NC_000022.11:35421127::AA 198/80796)
Row 569817466 (NC_000022.11:35421127::AAA 15/81006)...

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

Submission ignored due to conflicting rows:
Row 569817464 (NC_000022.11:35421127::A 8133/80610)
Row 569817465 (NC_000022.11:35421127::AA 198/80796)
Row 569817466 (NC_000022.11:35421127::AAA 15/81006)...

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

Submission ignored due to conflicting rows:
Row 569817464 (NC_000022.11:35421127::A 8133/80610)
Row 569817465 (NC_000022.11:35421127::AA 198/80796)
Row 569817466 (NC_000022.11:35421127::AAA 15/81006)...

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

Submission ignored due to conflicting rows:
Row 569817464 (NC_000022.11:35421127::A 8133/80610)
Row 569817465 (NC_000022.11:35421127::AA 198/80796)
Row 569817466 (NC_000022.11:35421127::AAA 15/81006)...

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

Submission ignored due to conflicting rows:
Row 569817464 (NC_000022.11:35421127::A 8133/80610)
Row 569817465 (NC_000022.11:35421127::AA 198/80796)
Row 569817466 (NC_000022.11:35421127::AAA 15/81006)...

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

Submission ignored due to conflicting rows:
Row 569817464 (NC_000022.11:35421127::A 8133/80610)
Row 569817465 (NC_000022.11:35421127::AA 198/80796)
Row 569817466 (NC_000022.11:35421127::AAA 15/81006)...

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

Submission ignored due to conflicting rows:
Row 569817464 (NC_000022.11:35421127::A 8133/80610)
Row 569817465 (NC_000022.11:35421127::AA 198/80796)
Row 569817466 (NC_000022.11:35421127::AAA 15/81006)...

- Apr 26, 2021 (155)
93 8.3KJPN

Submission ignored due to conflicting rows:
Row 90570156 (NC_000022.10:35817120:AA: 4710/16570)
Row 90570157 (NC_000022.10:35817120::A 562/16570)
Row 90570158 (NC_000022.10:35817120:AAAA: 5/16570)...

- Apr 26, 2021 (155)
94 8.3KJPN

Submission ignored due to conflicting rows:
Row 90570156 (NC_000022.10:35817120:AA: 4710/16570)
Row 90570157 (NC_000022.10:35817120::A 562/16570)
Row 90570158 (NC_000022.10:35817120:AAAA: 5/16570)...

- Apr 26, 2021 (155)
95 8.3KJPN

Submission ignored due to conflicting rows:
Row 90570156 (NC_000022.10:35817120:AA: 4710/16570)
Row 90570157 (NC_000022.10:35817120::A 562/16570)
Row 90570158 (NC_000022.10:35817120:AAAA: 5/16570)...

- Apr 26, 2021 (155)
96 8.3KJPN

Submission ignored due to conflicting rows:
Row 90570156 (NC_000022.10:35817120:AA: 4710/16570)
Row 90570157 (NC_000022.10:35817120::A 562/16570)
Row 90570158 (NC_000022.10:35817120:AAAA: 5/16570)...

- Apr 26, 2021 (155)
97 8.3KJPN

Submission ignored due to conflicting rows:
Row 90570156 (NC_000022.10:35817120:AA: 4710/16570)
Row 90570157 (NC_000022.10:35817120::A 562/16570)
Row 90570158 (NC_000022.10:35817120:AAAA: 5/16570)...

- Apr 26, 2021 (155)
98 8.3KJPN

Submission ignored due to conflicting rows:
Row 90570156 (NC_000022.10:35817120:AA: 4710/16570)
Row 90570157 (NC_000022.10:35817120::A 562/16570)
Row 90570158 (NC_000022.10:35817120:AAAA: 5/16570)...

- Apr 26, 2021 (155)
99 14KJPN

Submission ignored due to conflicting rows:
Row 127549731 (NC_000022.11:35421127:AA: 7734/27308)
Row 127549732 (NC_000022.11:35421127:AAA: 1402/27308)
Row 127549733 (NC_000022.11:35421127::A 755/27308)...

- Oct 16, 2022 (156)
100 14KJPN

Submission ignored due to conflicting rows:
Row 127549731 (NC_000022.11:35421127:AA: 7734/27308)
Row 127549732 (NC_000022.11:35421127:AAA: 1402/27308)
Row 127549733 (NC_000022.11:35421127::A 755/27308)...

- Oct 16, 2022 (156)
101 14KJPN

Submission ignored due to conflicting rows:
Row 127549731 (NC_000022.11:35421127:AA: 7734/27308)
Row 127549732 (NC_000022.11:35421127:AAA: 1402/27308)
Row 127549733 (NC_000022.11:35421127::A 755/27308)...

- Oct 16, 2022 (156)
102 14KJPN

Submission ignored due to conflicting rows:
Row 127549731 (NC_000022.11:35421127:AA: 7734/27308)
Row 127549732 (NC_000022.11:35421127:AAA: 1402/27308)
Row 127549733 (NC_000022.11:35421127::A 755/27308)...

- Oct 16, 2022 (156)
103 TopMed NC_000022.11 - 35421128 Apr 26, 2021 (155)
104 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 44635839 (NC_000022.10:35817121:A: 2225/3708)
Row 44635840 (NC_000022.10:35817120:AAA: 975/3708)

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

Submission ignored due to conflicting rows:
Row 44635839 (NC_000022.10:35817121:A: 2225/3708)
Row 44635840 (NC_000022.10:35817120:AAA: 975/3708)

- Oct 12, 2018 (152)
106 ALFA NC_000022.11 - 35421128 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)
rs57622343 May 23, 2008 (130)
rs869133332 Jul 19, 2016 (147)
rs35372412 May 23, 2006 (127)
rs57163195 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4364509046 NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAA:

NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

(self)
193944737 NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

(self)
384136470, ss4364509045, ss5109027523 NC_000022.11:35421127:AAAAAAAAAAAA: NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
193944737 NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss4364509044 NC_000022.11:35421127:AAAAAAAAAAA: NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
193944737 NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss5881799965 NC_000022.11:35421127:AAAAAAAAAA: NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

193944737 NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss4364509043 NC_000022.11:35421127:AAAAAAAAA: NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
193944737 NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
193944737 NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss4364509042 NC_000022.11:35421127:AAAAAAA: NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
193944737 NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3019294458 NC_000022.10:35817120:AAAAA: NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss4364509041 NC_000022.11:35421127:AAAAA: NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
193944737 NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss5232600851, ss5822064881 NC_000022.10:35817120:AAAA: NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss3708189626, ss4364509040, ss5311081667 NC_000022.11:35421127:AAAA: NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
193944737 NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss80448571 NC_000022.8:34141695:AAA: NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss1709587416, ss1709587485, ss5232600852, ss5822064880 NC_000022.10:35817120:AAA: NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss4364509039, ss5311081666, ss5502925776, ss5793712628 NC_000022.11:35421127:AAA: NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
193944737 NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss3708189625 NC_000022.11:35421128:AAA: NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss77879854, ss77963216, ss80325321, ss80544685, ss80753872, ss80825155 NC_000022.8:34141696:AA: NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss295078186 NC_000022.9:34147142:AA: NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
80693098, ss1379022648, ss3793691533, ss3798578006, ss3835989540, ss5232600849, ss5822064879 NC_000022.10:35817120:AA: NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss1710843727, ss1710843729 NC_000022.10:35817121:AA: NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss3822540087, ss4364509038, ss5311081662, ss5502925775, ss5793712627 NC_000022.11:35421127:AA: NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
193944737 NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss3708189624 NC_000022.11:35421129:AA: NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss141255 NT_011520.12:15207711:AA: NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss82883658 NC_000022.8:34141697:A: NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss5232600853 NC_000022.10:35817120:A: NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
NC_000022.10:35817121:A: NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4364509037, ss5311081664, ss5502925773, ss5793712630 NC_000022.11:35421127:A: NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
193944737 NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3708189623 NC_000022.11:35421130:A: NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss41546638 NT_011520.12:15207711:A: NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss41523733 NT_011520.12:15207712:A: NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss295078187 NC_000022.9:34147144::A NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss664525366, ss5232600850 NC_000022.10:35817120::A NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss947416915 NC_000022.10:35817124::A NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3822540086, ss4364509032, ss5311081665, ss5502925774, ss5793712629 NC_000022.11:35421127::A NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
193944737 NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3708189622 NC_000022.11:35421131::A NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss96110366 NT_011520.12:15207689::A NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss41518043, ss95757628 NT_011520.12:15207713::A NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss5232600854 NC_000022.10:35817120::AA NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4364509033 NC_000022.11:35421127::AA NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
193944737 NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3708189621 NC_000022.11:35421131::AA NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4364509034 NC_000022.11:35421127::AAA NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
193944737 NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4364509035 NC_000022.11:35421127::AAAA NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4364509036 NC_000022.11:35421127::AAAAAAAAAAA…

NC_000022.11:35421127::AAAAAAAAAAAAA

NC_000022.11:35421127:AAAAAAAAAAAA…

NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(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 rs133430

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