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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.

rs772814324

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr10:18593876-18593890 (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
delAAA / delAA / delA / dupA / dup…

delAAA / delAA / delA / dupA / dupAA / dupAAA

Variation Type
Indel Insertion and Deletion
Frequency
delA=0.00000 (0/11632, ALFA)
dupA=0.00000 (0/11632, ALFA)
dupAA=0.00000 (0/11632, ALFA) (+ 1 more)
delA=0.10 (4/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NSUN6 : 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 11632 AAAAAAAAAAAAAAA=1.00000 AAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAA=0.00000 1.0 0.0 0.0 N/A
European Sub 7462 AAAAAAAAAAAAAAA=1.0000 AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Sub 2770 AAAAAAAAAAAAAAA=1.0000 AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Others Sub 106 AAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African American Sub 2664 AAAAAAAAAAAAAAA=1.0000 AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
Asian Sub 104 AAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
East Asian Sub 80 AAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 AAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 142 AAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 596 AAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 AAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 464 AAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=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 11632 (A)15=1.00000 delA=0.00000, dupA=0.00000, dupAA=0.00000
Allele Frequency Aggregator European Sub 7462 (A)15=1.0000 delA=0.0000, dupA=0.0000, dupAA=0.0000
Allele Frequency Aggregator African Sub 2770 (A)15=1.0000 delA=0.0000, dupA=0.0000, dupAA=0.0000
Allele Frequency Aggregator Latin American 2 Sub 596 (A)15=1.000 delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator Other Sub 464 (A)15=1.000 delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator Latin American 1 Sub 142 (A)15=1.000 delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator Asian Sub 104 (A)15=1.000 delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator South Asian Sub 94 (A)15=1.00 delA=0.00, dupA=0.00, dupAA=0.00
The Danish reference pan genome Danish Study-wide 40 (A)15=0.90 delA=0.10
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 10 NC_000010.11:g.18593888_18593890del
GRCh38.p14 chr 10 NC_000010.11:g.18593889_18593890del
GRCh38.p14 chr 10 NC_000010.11:g.18593890del
GRCh38.p14 chr 10 NC_000010.11:g.18593890dup
GRCh38.p14 chr 10 NC_000010.11:g.18593889_18593890dup
GRCh38.p14 chr 10 NC_000010.11:g.18593888_18593890dup
GRCh37.p13 chr 10 NC_000010.10:g.18882817_18882819del
GRCh37.p13 chr 10 NC_000010.10:g.18882818_18882819del
GRCh37.p13 chr 10 NC_000010.10:g.18882819del
GRCh37.p13 chr 10 NC_000010.10:g.18882819dup
GRCh37.p13 chr 10 NC_000010.10:g.18882818_18882819dup
GRCh37.p13 chr 10 NC_000010.10:g.18882817_18882819dup
Gene: NSUN6, NOP2/Sun RNA methyltransferase 6 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
NSUN6 transcript variant 2 NM_001351115.2:c.774+2330…

NM_001351115.2:c.774+2330_774+2332del

N/A Intron Variant
NSUN6 transcript variant 3 NM_001351116.2:c.741+2330…

NM_001351116.2:c.741+2330_741+2332del

N/A Intron Variant
NSUN6 transcript variant 4 NM_001351117.2:c.621+2330…

NM_001351117.2:c.621+2330_621+2332del

N/A Intron Variant
NSUN6 transcript variant 5 NM_001351118.2:c.354+2330…

NM_001351118.2:c.354+2330_354+2332del

N/A Intron Variant
NSUN6 transcript variant 1 NM_182543.5:c.777+2330_77…

NM_182543.5:c.777+2330_777+2332del

N/A Intron Variant
NSUN6 transcript variant X2 XM_011519383.2:c.786+2330…

XM_011519383.2:c.786+2330_786+2332del

N/A Intron Variant
NSUN6 transcript variant X5 XM_011519384.2:c.753+2330…

XM_011519384.2:c.753+2330_753+2332del

N/A Intron Variant
NSUN6 transcript variant X3 XM_011519385.2:c.753+2330…

XM_011519385.2:c.753+2330_753+2332del

N/A Intron Variant
NSUN6 transcript variant X6 XM_011519386.3:c.753+2330…

XM_011519386.3:c.753+2330_753+2332del

N/A Intron Variant
NSUN6 transcript variant X10 XM_011519387.3:c.633+2330…

XM_011519387.3:c.633+2330_633+2332del

N/A Intron Variant
NSUN6 transcript variant X4 XM_017015907.3:c.753+2330…

XM_017015907.3:c.753+2330_753+2332del

N/A Intron Variant
NSUN6 transcript variant X15 XM_017015912.3:c.366+2330…

XM_017015912.3:c.366+2330_366+2332del

N/A Intron Variant
NSUN6 transcript variant X7 XM_024447884.2:c.741+2330…

XM_024447884.2:c.741+2330_741+2332del

N/A Intron Variant
NSUN6 transcript variant X1 XM_047424777.1:c.789+2330…

XM_047424777.1:c.789+2330_789+2332del

N/A Intron Variant
NSUN6 transcript variant X8 XM_047424778.1:c.741+2330…

XM_047424778.1:c.741+2330_741+2332del

N/A Intron Variant
NSUN6 transcript variant X9 XM_047424779.1:c.738+2330…

XM_047424779.1:c.738+2330_738+2332del

N/A Intron Variant
NSUN6 transcript variant X11 XM_047424780.1:c.789+2330…

XM_047424780.1:c.789+2330_789+2332del

N/A Intron Variant
NSUN6 transcript variant X12 XM_047424781.1:c.492+2330…

XM_047424781.1:c.492+2330_492+2332del

N/A Intron Variant
NSUN6 transcript variant X13 XM_047424782.1:c.777+2330…

XM_047424782.1:c.777+2330_777+2332del

N/A Intron Variant
NSUN6 transcript variant X14 XM_047424783.1:c.366+2330…

XM_047424783.1:c.366+2330_366+2332del

N/A Intron Variant
NSUN6 transcript variant X16 XM_047424784.1:c.777+2330…

XM_047424784.1:c.777+2330_777+2332del

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)15= delAAA delAA delA dupA dupAA dupAAA
GRCh38.p14 chr 10 NC_000010.11:g.18593876_18593890= NC_000010.11:g.18593888_18593890del NC_000010.11:g.18593889_18593890del NC_000010.11:g.18593890del NC_000010.11:g.18593890dup NC_000010.11:g.18593889_18593890dup NC_000010.11:g.18593888_18593890dup
GRCh37.p13 chr 10 NC_000010.10:g.18882805_18882819= NC_000010.10:g.18882817_18882819del NC_000010.10:g.18882818_18882819del NC_000010.10:g.18882819del NC_000010.10:g.18882819dup NC_000010.10:g.18882818_18882819dup NC_000010.10:g.18882817_18882819dup
NSUN6 transcript variant 2 NM_001351115.2:c.774+2332= NM_001351115.2:c.774+2330_774+2332del NM_001351115.2:c.774+2331_774+2332del NM_001351115.2:c.774+2332del NM_001351115.2:c.774+2332dup NM_001351115.2:c.774+2331_774+2332dup NM_001351115.2:c.774+2330_774+2332dup
NSUN6 transcript variant 3 NM_001351116.2:c.741+2332= NM_001351116.2:c.741+2330_741+2332del NM_001351116.2:c.741+2331_741+2332del NM_001351116.2:c.741+2332del NM_001351116.2:c.741+2332dup NM_001351116.2:c.741+2331_741+2332dup NM_001351116.2:c.741+2330_741+2332dup
NSUN6 transcript variant 4 NM_001351117.2:c.621+2332= NM_001351117.2:c.621+2330_621+2332del NM_001351117.2:c.621+2331_621+2332del NM_001351117.2:c.621+2332del NM_001351117.2:c.621+2332dup NM_001351117.2:c.621+2331_621+2332dup NM_001351117.2:c.621+2330_621+2332dup
NSUN6 transcript variant 5 NM_001351118.2:c.354+2332= NM_001351118.2:c.354+2330_354+2332del NM_001351118.2:c.354+2331_354+2332del NM_001351118.2:c.354+2332del NM_001351118.2:c.354+2332dup NM_001351118.2:c.354+2331_354+2332dup NM_001351118.2:c.354+2330_354+2332dup
NSUN6 transcript NM_182543.2:c.777+2332= NM_182543.2:c.777+2330_777+2332del NM_182543.2:c.777+2331_777+2332del NM_182543.2:c.777+2332del NM_182543.2:c.777+2332dup NM_182543.2:c.777+2331_777+2332dup NM_182543.2:c.777+2330_777+2332dup
NSUN6 transcript variant 1 NM_182543.5:c.777+2332= NM_182543.5:c.777+2330_777+2332del NM_182543.5:c.777+2331_777+2332del NM_182543.5:c.777+2332del NM_182543.5:c.777+2332dup NM_182543.5:c.777+2331_777+2332dup NM_182543.5:c.777+2330_777+2332dup
NSUN6 transcript variant X1 XM_005252394.1:c.774+2332= XM_005252394.1:c.774+2330_774+2332del XM_005252394.1:c.774+2331_774+2332del XM_005252394.1:c.774+2332del XM_005252394.1:c.774+2332dup XM_005252394.1:c.774+2331_774+2332dup XM_005252394.1:c.774+2330_774+2332dup
NSUN6 transcript variant X2 XM_005252395.1:c.741+2332= XM_005252395.1:c.741+2330_741+2332del XM_005252395.1:c.741+2331_741+2332del XM_005252395.1:c.741+2332del XM_005252395.1:c.741+2332dup XM_005252395.1:c.741+2331_741+2332dup XM_005252395.1:c.741+2330_741+2332dup
NSUN6 transcript variant X3 XM_005252396.1:c.741+2332= XM_005252396.1:c.741+2330_741+2332del XM_005252396.1:c.741+2331_741+2332del XM_005252396.1:c.741+2332del XM_005252396.1:c.741+2332dup XM_005252396.1:c.741+2331_741+2332dup XM_005252396.1:c.741+2330_741+2332dup
NSUN6 transcript variant X4 XM_005252397.1:c.621+2332= XM_005252397.1:c.621+2330_621+2332del XM_005252397.1:c.621+2331_621+2332del XM_005252397.1:c.621+2332del XM_005252397.1:c.621+2332dup XM_005252397.1:c.621+2331_621+2332dup XM_005252397.1:c.621+2330_621+2332dup
NSUN6 transcript variant X5 XM_005252398.1:c.480+2332= XM_005252398.1:c.480+2330_480+2332del XM_005252398.1:c.480+2331_480+2332del XM_005252398.1:c.480+2332del XM_005252398.1:c.480+2332dup XM_005252398.1:c.480+2331_480+2332dup XM_005252398.1:c.480+2330_480+2332dup
NSUN6 transcript variant X6 XM_005252399.1:c.354+2332= XM_005252399.1:c.354+2330_354+2332del XM_005252399.1:c.354+2331_354+2332del XM_005252399.1:c.354+2332del XM_005252399.1:c.354+2332dup XM_005252399.1:c.354+2331_354+2332dup XM_005252399.1:c.354+2330_354+2332dup
NSUN6 transcript variant X2 XM_011519383.2:c.786+2332= XM_011519383.2:c.786+2330_786+2332del XM_011519383.2:c.786+2331_786+2332del XM_011519383.2:c.786+2332del XM_011519383.2:c.786+2332dup XM_011519383.2:c.786+2331_786+2332dup XM_011519383.2:c.786+2330_786+2332dup
NSUN6 transcript variant X5 XM_011519384.2:c.753+2332= XM_011519384.2:c.753+2330_753+2332del XM_011519384.2:c.753+2331_753+2332del XM_011519384.2:c.753+2332del XM_011519384.2:c.753+2332dup XM_011519384.2:c.753+2331_753+2332dup XM_011519384.2:c.753+2330_753+2332dup
NSUN6 transcript variant X3 XM_011519385.2:c.753+2332= XM_011519385.2:c.753+2330_753+2332del XM_011519385.2:c.753+2331_753+2332del XM_011519385.2:c.753+2332del XM_011519385.2:c.753+2332dup XM_011519385.2:c.753+2331_753+2332dup XM_011519385.2:c.753+2330_753+2332dup
NSUN6 transcript variant X6 XM_011519386.3:c.753+2332= XM_011519386.3:c.753+2330_753+2332del XM_011519386.3:c.753+2331_753+2332del XM_011519386.3:c.753+2332del XM_011519386.3:c.753+2332dup XM_011519386.3:c.753+2331_753+2332dup XM_011519386.3:c.753+2330_753+2332dup
NSUN6 transcript variant X10 XM_011519387.3:c.633+2332= XM_011519387.3:c.633+2330_633+2332del XM_011519387.3:c.633+2331_633+2332del XM_011519387.3:c.633+2332del XM_011519387.3:c.633+2332dup XM_011519387.3:c.633+2331_633+2332dup XM_011519387.3:c.633+2330_633+2332dup
NSUN6 transcript variant X4 XM_017015907.3:c.753+2332= XM_017015907.3:c.753+2330_753+2332del XM_017015907.3:c.753+2331_753+2332del XM_017015907.3:c.753+2332del XM_017015907.3:c.753+2332dup XM_017015907.3:c.753+2331_753+2332dup XM_017015907.3:c.753+2330_753+2332dup
NSUN6 transcript variant X15 XM_017015912.3:c.366+2332= XM_017015912.3:c.366+2330_366+2332del XM_017015912.3:c.366+2331_366+2332del XM_017015912.3:c.366+2332del XM_017015912.3:c.366+2332dup XM_017015912.3:c.366+2331_366+2332dup XM_017015912.3:c.366+2330_366+2332dup
NSUN6 transcript variant X7 XM_024447884.2:c.741+2332= XM_024447884.2:c.741+2330_741+2332del XM_024447884.2:c.741+2331_741+2332del XM_024447884.2:c.741+2332del XM_024447884.2:c.741+2332dup XM_024447884.2:c.741+2331_741+2332dup XM_024447884.2:c.741+2330_741+2332dup
NSUN6 transcript variant X1 XM_047424777.1:c.789+2332= XM_047424777.1:c.789+2330_789+2332del XM_047424777.1:c.789+2331_789+2332del XM_047424777.1:c.789+2332del XM_047424777.1:c.789+2332dup XM_047424777.1:c.789+2331_789+2332dup XM_047424777.1:c.789+2330_789+2332dup
NSUN6 transcript variant X8 XM_047424778.1:c.741+2332= XM_047424778.1:c.741+2330_741+2332del XM_047424778.1:c.741+2331_741+2332del XM_047424778.1:c.741+2332del XM_047424778.1:c.741+2332dup XM_047424778.1:c.741+2331_741+2332dup XM_047424778.1:c.741+2330_741+2332dup
NSUN6 transcript variant X9 XM_047424779.1:c.738+2332= XM_047424779.1:c.738+2330_738+2332del XM_047424779.1:c.738+2331_738+2332del XM_047424779.1:c.738+2332del XM_047424779.1:c.738+2332dup XM_047424779.1:c.738+2331_738+2332dup XM_047424779.1:c.738+2330_738+2332dup
NSUN6 transcript variant X11 XM_047424780.1:c.789+2332= XM_047424780.1:c.789+2330_789+2332del XM_047424780.1:c.789+2331_789+2332del XM_047424780.1:c.789+2332del XM_047424780.1:c.789+2332dup XM_047424780.1:c.789+2331_789+2332dup XM_047424780.1:c.789+2330_789+2332dup
NSUN6 transcript variant X12 XM_047424781.1:c.492+2332= XM_047424781.1:c.492+2330_492+2332del XM_047424781.1:c.492+2331_492+2332del XM_047424781.1:c.492+2332del XM_047424781.1:c.492+2332dup XM_047424781.1:c.492+2331_492+2332dup XM_047424781.1:c.492+2330_492+2332dup
NSUN6 transcript variant X13 XM_047424782.1:c.777+2332= XM_047424782.1:c.777+2330_777+2332del XM_047424782.1:c.777+2331_777+2332del XM_047424782.1:c.777+2332del XM_047424782.1:c.777+2332dup XM_047424782.1:c.777+2331_777+2332dup XM_047424782.1:c.777+2330_777+2332dup
NSUN6 transcript variant X14 XM_047424783.1:c.366+2332= XM_047424783.1:c.366+2330_366+2332del XM_047424783.1:c.366+2331_366+2332del XM_047424783.1:c.366+2332del XM_047424783.1:c.366+2332dup XM_047424783.1:c.366+2331_366+2332dup XM_047424783.1:c.366+2330_366+2332dup
NSUN6 transcript variant X16 XM_047424784.1:c.777+2332= XM_047424784.1:c.777+2330_777+2332del XM_047424784.1:c.777+2331_777+2332del XM_047424784.1:c.777+2332del XM_047424784.1:c.777+2332dup XM_047424784.1:c.777+2331_777+2332dup XM_047424784.1:c.777+2330_777+2332dup
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#.

19 SubSNP, 14 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_GENOME_DK ss1574157618 Apr 01, 2015 (144)
2 SWEGEN ss3006040580 Nov 08, 2017 (151)
3 PACBIO ss3786601436 Jul 13, 2019 (153)
4 GNOMAD ss4213992039 Apr 26, 2021 (155)
5 GNOMAD ss4213992040 Apr 26, 2021 (155)
6 GNOMAD ss4213992041 Apr 26, 2021 (155)
7 GNOMAD ss4213992042 Apr 26, 2021 (155)
8 GNOMAD ss4213992043 Apr 26, 2021 (155)
9 TOMMO_GENOMICS ss5196545305 Apr 26, 2021 (155)
10 TOMMO_GENOMICS ss5196545306 Apr 26, 2021 (155)
11 TOMMO_GENOMICS ss5196545307 Apr 26, 2021 (155)
12 HUGCELL_USP ss5478899275 Oct 16, 2022 (156)
13 HUGCELL_USP ss5478899277 Oct 16, 2022 (156)
14 HUGCELL_USP ss5478899278 Oct 16, 2022 (156)
15 TOMMO_GENOMICS ss5741476322 Oct 16, 2022 (156)
16 TOMMO_GENOMICS ss5741476323 Oct 16, 2022 (156)
17 TOMMO_GENOMICS ss5741476324 Oct 16, 2022 (156)
18 YY_MCH ss5811254319 Oct 16, 2022 (156)
19 EVA ss5849468024 Oct 16, 2022 (156)
20 The Danish reference pan genome NC_000010.10 - 18882805 Apr 26, 2020 (154)
21 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 345191452 (NC_000010.11:18593875::A 734/87856)
Row 345191453 (NC_000010.11:18593875::AA 12/87912)
Row 345191454 (NC_000010.11:18593875::AAA 1/87910)...

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

Submission ignored due to conflicting rows:
Row 345191452 (NC_000010.11:18593875::A 734/87856)
Row 345191453 (NC_000010.11:18593875::AA 12/87912)
Row 345191454 (NC_000010.11:18593875::AAA 1/87910)...

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

Submission ignored due to conflicting rows:
Row 345191452 (NC_000010.11:18593875::A 734/87856)
Row 345191453 (NC_000010.11:18593875::AA 12/87912)
Row 345191454 (NC_000010.11:18593875::AAA 1/87910)...

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

Submission ignored due to conflicting rows:
Row 345191452 (NC_000010.11:18593875::A 734/87856)
Row 345191453 (NC_000010.11:18593875::AA 12/87912)
Row 345191454 (NC_000010.11:18593875::AAA 1/87910)...

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

Submission ignored due to conflicting rows:
Row 345191452 (NC_000010.11:18593875::A 734/87856)
Row 345191453 (NC_000010.11:18593875::AA 12/87912)
Row 345191454 (NC_000010.11:18593875::AAA 1/87910)...

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

Submission ignored due to conflicting rows:
Row 345191452 (NC_000010.11:18593875::A 734/87856)
Row 345191453 (NC_000010.11:18593875::AA 12/87912)
Row 345191454 (NC_000010.11:18593875::AAA 1/87910)...

- Apr 26, 2021 (155)
27 8.3KJPN

Submission ignored due to conflicting rows:
Row 54514612 (NC_000010.10:18882804:A: 72/16760)
Row 54514613 (NC_000010.10:18882804::A 3/16760)
Row 54514614 (NC_000010.10:18882804::AA 23/16760)

- Apr 26, 2021 (155)
28 8.3KJPN

Submission ignored due to conflicting rows:
Row 54514612 (NC_000010.10:18882804:A: 72/16760)
Row 54514613 (NC_000010.10:18882804::A 3/16760)
Row 54514614 (NC_000010.10:18882804::AA 23/16760)

- Apr 26, 2021 (155)
29 8.3KJPN

Submission ignored due to conflicting rows:
Row 54514612 (NC_000010.10:18882804:A: 72/16760)
Row 54514613 (NC_000010.10:18882804::A 3/16760)
Row 54514614 (NC_000010.10:18882804::AA 23/16760)

- Apr 26, 2021 (155)
30 14KJPN

Submission ignored due to conflicting rows:
Row 75313426 (NC_000010.11:18593875:A: 110/28258)
Row 75313427 (NC_000010.11:18593875::A 6/28258)
Row 75313428 (NC_000010.11:18593875::AA 50/28258)

- Oct 16, 2022 (156)
31 14KJPN

Submission ignored due to conflicting rows:
Row 75313426 (NC_000010.11:18593875:A: 110/28258)
Row 75313427 (NC_000010.11:18593875::A 6/28258)
Row 75313428 (NC_000010.11:18593875::AA 50/28258)

- Oct 16, 2022 (156)
32 14KJPN

Submission ignored due to conflicting rows:
Row 75313426 (NC_000010.11:18593875:A: 110/28258)
Row 75313427 (NC_000010.11:18593875::A 6/28258)
Row 75313428 (NC_000010.11:18593875::AA 50/28258)

- Oct 16, 2022 (156)
33 ALFA NC_000010.11 - 18593876 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
ss4213992043 NC_000010.11:18593875:AAA: NC_000010.11:18593875:AAAAAAAAAAAA…

NC_000010.11:18593875:AAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss4213992042 NC_000010.11:18593875:AA: NC_000010.11:18593875:AAAAAAAAAAAA…

NC_000010.11:18593875:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
224944, ss1574157618, ss3006040580, ss3786601436, ss5196545305 NC_000010.10:18882804:A: NC_000010.11:18593875:AAAAAAAAAAAA…

NC_000010.11:18593875:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss5478899277, ss5741476322, ss5811254319, ss5849468024 NC_000010.11:18593875:A: NC_000010.11:18593875:AAAAAAAAAAAA…

NC_000010.11:18593875:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
4871544957 NC_000010.11:18593875:AAAAAAAAAAAA…

NC_000010.11:18593875:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000010.11:18593875:AAAAAAAAAAAA…

NC_000010.11:18593875:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss5196545306 NC_000010.10:18882804::A NC_000010.11:18593875:AAAAAAAAAAAA…

NC_000010.11:18593875:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss4213992039, ss5478899275, ss5741476323 NC_000010.11:18593875::A NC_000010.11:18593875:AAAAAAAAAAAA…

NC_000010.11:18593875:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
4871544957 NC_000010.11:18593875:AAAAAAAAAAAA…

NC_000010.11:18593875:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000010.11:18593875:AAAAAAAAAAAA…

NC_000010.11:18593875:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss5196545307 NC_000010.10:18882804::AA NC_000010.11:18593875:AAAAAAAAAAAA…

NC_000010.11:18593875:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss4213992040, ss5478899278, ss5741476324 NC_000010.11:18593875::AA NC_000010.11:18593875:AAAAAAAAAAAA…

NC_000010.11:18593875:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
4871544957 NC_000010.11:18593875:AAAAAAAAAAAA…

NC_000010.11:18593875:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000010.11:18593875:AAAAAAAAAAAA…

NC_000010.11:18593875:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss4213992041 NC_000010.11:18593875::AAA NC_000010.11:18593875:AAAAAAAAAAAA…

NC_000010.11:18593875:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(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 rs772814324

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