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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.

rs58679739

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr17:19277401-19277421 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
del(A)12 / del(A)10 / del(A)9 / de…

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

Variation Type
Indel Insertion and Deletion
Frequency
del(A)12=0.0000 (0/7570, ALFA)
del(A)10=0.0000 (0/7570, ALFA)
del(A)9=0.0000 (0/7570, ALFA) (+ 11 more)
del(A)8=0.0000 (0/7570, ALFA)
del(A)7=0.0000 (0/7570, ALFA)
del(A)5=0.0000 (0/7570, ALFA)
del(A)4=0.0000 (0/7570, ALFA)
delAAA=0.0000 (0/7570, ALFA)
delAA=0.0000 (0/7570, ALFA)
delA=0.0000 (0/7570, ALFA)
dupA=0.0000 (0/7570, ALFA)
dupAA=0.0000 (0/7570, ALFA)
dupAAA=0.0000 (0/7570, ALFA)
dup(A)4=0.0000 (0/7570, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
EPN2 : 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 7570 AAAAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
European Sub 7006 AAAAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Sub 170 AAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Others Sub 6 AAAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
African American Sub 164 AAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Asian Sub 4 AAAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
East Asian Sub 2 AAAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Other Asian Sub 2 AAAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Latin American 1 Sub 56 AAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 160 AAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 14 AAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 160 AAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=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 7570 (A)21=1.0000 del(A)12=0.0000, del(A)10=0.0000, del(A)9=0.0000, del(A)8=0.0000, del(A)7=0.0000, del(A)5=0.0000, del(A)4=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)4=0.0000
Allele Frequency Aggregator European Sub 7006 (A)21=1.0000 del(A)12=0.0000, del(A)10=0.0000, del(A)9=0.0000, del(A)8=0.0000, del(A)7=0.0000, del(A)5=0.0000, del(A)4=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)4=0.0000
Allele Frequency Aggregator African Sub 170 (A)21=1.000 del(A)12=0.000, del(A)10=0.000, del(A)9=0.000, del(A)8=0.000, del(A)7=0.000, del(A)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, dup(A)4=0.000
Allele Frequency Aggregator Latin American 2 Sub 160 (A)21=1.000 del(A)12=0.000, del(A)10=0.000, del(A)9=0.000, del(A)8=0.000, del(A)7=0.000, del(A)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, dup(A)4=0.000
Allele Frequency Aggregator Other Sub 160 (A)21=1.000 del(A)12=0.000, del(A)10=0.000, del(A)9=0.000, del(A)8=0.000, del(A)7=0.000, del(A)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, dup(A)4=0.000
Allele Frequency Aggregator Latin American 1 Sub 56 (A)21=1.00 del(A)12=0.00, del(A)10=0.00, del(A)9=0.00, del(A)8=0.00, del(A)7=0.00, del(A)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, dup(A)4=0.00
Allele Frequency Aggregator South Asian Sub 14 (A)21=1.00 del(A)12=0.00, del(A)10=0.00, del(A)9=0.00, del(A)8=0.00, del(A)7=0.00, del(A)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, dup(A)4=0.00
Allele Frequency Aggregator Asian Sub 4 (A)21=1.0 del(A)12=0.0, del(A)10=0.0, del(A)9=0.0, del(A)8=0.0, del(A)7=0.0, del(A)5=0.0, del(A)4=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)4=0.0
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 17 NC_000017.11:g.19277410_19277421del
GRCh38.p14 chr 17 NC_000017.11:g.19277412_19277421del
GRCh38.p14 chr 17 NC_000017.11:g.19277413_19277421del
GRCh38.p14 chr 17 NC_000017.11:g.19277414_19277421del
GRCh38.p14 chr 17 NC_000017.11:g.19277415_19277421del
GRCh38.p14 chr 17 NC_000017.11:g.19277416_19277421del
GRCh38.p14 chr 17 NC_000017.11:g.19277417_19277421del
GRCh38.p14 chr 17 NC_000017.11:g.19277418_19277421del
GRCh38.p14 chr 17 NC_000017.11:g.19277419_19277421del
GRCh38.p14 chr 17 NC_000017.11:g.19277420_19277421del
GRCh38.p14 chr 17 NC_000017.11:g.19277421del
GRCh38.p14 chr 17 NC_000017.11:g.19277421dup
GRCh38.p14 chr 17 NC_000017.11:g.19277420_19277421dup
GRCh38.p14 chr 17 NC_000017.11:g.19277419_19277421dup
GRCh38.p14 chr 17 NC_000017.11:g.19277418_19277421dup
GRCh38.p14 chr 17 NC_000017.11:g.19277417_19277421dup
GRCh38.p14 chr 17 NC_000017.11:g.19277416_19277421dup
GRCh37.p13 chr 17 NC_000017.10:g.19180723_19180734del
GRCh37.p13 chr 17 NC_000017.10:g.19180725_19180734del
GRCh37.p13 chr 17 NC_000017.10:g.19180726_19180734del
GRCh37.p13 chr 17 NC_000017.10:g.19180727_19180734del
GRCh37.p13 chr 17 NC_000017.10:g.19180728_19180734del
GRCh37.p13 chr 17 NC_000017.10:g.19180729_19180734del
GRCh37.p13 chr 17 NC_000017.10:g.19180730_19180734del
GRCh37.p13 chr 17 NC_000017.10:g.19180731_19180734del
GRCh37.p13 chr 17 NC_000017.10:g.19180732_19180734del
GRCh37.p13 chr 17 NC_000017.10:g.19180733_19180734del
GRCh37.p13 chr 17 NC_000017.10:g.19180734del
GRCh37.p13 chr 17 NC_000017.10:g.19180734dup
GRCh37.p13 chr 17 NC_000017.10:g.19180733_19180734dup
GRCh37.p13 chr 17 NC_000017.10:g.19180732_19180734dup
GRCh37.p13 chr 17 NC_000017.10:g.19180731_19180734dup
GRCh37.p13 chr 17 NC_000017.10:g.19180730_19180734dup
GRCh37.p13 chr 17 NC_000017.10:g.19180729_19180734dup
Gene: EPN2, epsin 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
EPN2 transcript variant 3 NM_001102664.2:c.-89-3247…

NM_001102664.2:c.-89-32475_-89-32464del

N/A Intron Variant
EPN2 transcript variant 2 NM_014964.5:c.-293-4545_-…

NM_014964.5:c.-293-4545_-293-4534del

N/A Intron Variant
EPN2 transcript variant 1 NM_148921.4:c.-293-4545_-…

NM_148921.4:c.-293-4545_-293-4534del

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)21= del(A)12 del(A)10 del(A)9 del(A)8 del(A)7 del(A)6 del(A)5 del(A)4 delAAA delAA delA dupA dupAA dupAAA dup(A)4 dup(A)5 dup(A)6
GRCh38.p14 chr 17 NC_000017.11:g.19277401_19277421= NC_000017.11:g.19277410_19277421del NC_000017.11:g.19277412_19277421del NC_000017.11:g.19277413_19277421del NC_000017.11:g.19277414_19277421del NC_000017.11:g.19277415_19277421del NC_000017.11:g.19277416_19277421del NC_000017.11:g.19277417_19277421del NC_000017.11:g.19277418_19277421del NC_000017.11:g.19277419_19277421del NC_000017.11:g.19277420_19277421del NC_000017.11:g.19277421del NC_000017.11:g.19277421dup NC_000017.11:g.19277420_19277421dup NC_000017.11:g.19277419_19277421dup NC_000017.11:g.19277418_19277421dup NC_000017.11:g.19277417_19277421dup NC_000017.11:g.19277416_19277421dup
GRCh37.p13 chr 17 NC_000017.10:g.19180714_19180734= NC_000017.10:g.19180723_19180734del NC_000017.10:g.19180725_19180734del NC_000017.10:g.19180726_19180734del NC_000017.10:g.19180727_19180734del NC_000017.10:g.19180728_19180734del NC_000017.10:g.19180729_19180734del NC_000017.10:g.19180730_19180734del NC_000017.10:g.19180731_19180734del NC_000017.10:g.19180732_19180734del NC_000017.10:g.19180733_19180734del NC_000017.10:g.19180734del NC_000017.10:g.19180734dup NC_000017.10:g.19180733_19180734dup NC_000017.10:g.19180732_19180734dup NC_000017.10:g.19180731_19180734dup NC_000017.10:g.19180730_19180734dup NC_000017.10:g.19180729_19180734dup
EPN2 transcript variant 3 NM_001102664.1:c.-89-32484= NM_001102664.1:c.-89-32475_-89-32464del NM_001102664.1:c.-89-32473_-89-32464del NM_001102664.1:c.-89-32472_-89-32464del NM_001102664.1:c.-89-32471_-89-32464del NM_001102664.1:c.-89-32470_-89-32464del NM_001102664.1:c.-89-32469_-89-32464del NM_001102664.1:c.-89-32468_-89-32464del NM_001102664.1:c.-89-32467_-89-32464del NM_001102664.1:c.-89-32466_-89-32464del NM_001102664.1:c.-89-32465_-89-32464del NM_001102664.1:c.-89-32464del NM_001102664.1:c.-89-32464dup NM_001102664.1:c.-89-32465_-89-32464dup NM_001102664.1:c.-89-32466_-89-32464dup NM_001102664.1:c.-89-32467_-89-32464dup NM_001102664.1:c.-89-32468_-89-32464dup NM_001102664.1:c.-89-32469_-89-32464dup
EPN2 transcript variant 3 NM_001102664.2:c.-89-32484= NM_001102664.2:c.-89-32475_-89-32464del NM_001102664.2:c.-89-32473_-89-32464del NM_001102664.2:c.-89-32472_-89-32464del NM_001102664.2:c.-89-32471_-89-32464del NM_001102664.2:c.-89-32470_-89-32464del NM_001102664.2:c.-89-32469_-89-32464del NM_001102664.2:c.-89-32468_-89-32464del NM_001102664.2:c.-89-32467_-89-32464del NM_001102664.2:c.-89-32466_-89-32464del NM_001102664.2:c.-89-32465_-89-32464del NM_001102664.2:c.-89-32464del NM_001102664.2:c.-89-32464dup NM_001102664.2:c.-89-32465_-89-32464dup NM_001102664.2:c.-89-32466_-89-32464dup NM_001102664.2:c.-89-32467_-89-32464dup NM_001102664.2:c.-89-32468_-89-32464dup NM_001102664.2:c.-89-32469_-89-32464dup
EPN2 transcript variant 2 NM_014964.4:c.-293-4554= NM_014964.4:c.-293-4545_-293-4534del NM_014964.4:c.-293-4543_-293-4534del NM_014964.4:c.-293-4542_-293-4534del NM_014964.4:c.-293-4541_-293-4534del NM_014964.4:c.-293-4540_-293-4534del NM_014964.4:c.-293-4539_-293-4534del NM_014964.4:c.-293-4538_-293-4534del NM_014964.4:c.-293-4537_-293-4534del NM_014964.4:c.-293-4536_-293-4534del NM_014964.4:c.-293-4535_-293-4534del NM_014964.4:c.-293-4534del NM_014964.4:c.-293-4534dup NM_014964.4:c.-293-4535_-293-4534dup NM_014964.4:c.-293-4536_-293-4534dup NM_014964.4:c.-293-4537_-293-4534dup NM_014964.4:c.-293-4538_-293-4534dup NM_014964.4:c.-293-4539_-293-4534dup
EPN2 transcript variant 2 NM_014964.5:c.-293-4554= NM_014964.5:c.-293-4545_-293-4534del NM_014964.5:c.-293-4543_-293-4534del NM_014964.5:c.-293-4542_-293-4534del NM_014964.5:c.-293-4541_-293-4534del NM_014964.5:c.-293-4540_-293-4534del NM_014964.5:c.-293-4539_-293-4534del NM_014964.5:c.-293-4538_-293-4534del NM_014964.5:c.-293-4537_-293-4534del NM_014964.5:c.-293-4536_-293-4534del NM_014964.5:c.-293-4535_-293-4534del NM_014964.5:c.-293-4534del NM_014964.5:c.-293-4534dup NM_014964.5:c.-293-4535_-293-4534dup NM_014964.5:c.-293-4536_-293-4534dup NM_014964.5:c.-293-4537_-293-4534dup NM_014964.5:c.-293-4538_-293-4534dup NM_014964.5:c.-293-4539_-293-4534dup
EPN2 transcript variant 1 NM_148921.3:c.-293-4554= NM_148921.3:c.-293-4545_-293-4534del NM_148921.3:c.-293-4543_-293-4534del NM_148921.3:c.-293-4542_-293-4534del NM_148921.3:c.-293-4541_-293-4534del NM_148921.3:c.-293-4540_-293-4534del NM_148921.3:c.-293-4539_-293-4534del NM_148921.3:c.-293-4538_-293-4534del NM_148921.3:c.-293-4537_-293-4534del NM_148921.3:c.-293-4536_-293-4534del NM_148921.3:c.-293-4535_-293-4534del NM_148921.3:c.-293-4534del NM_148921.3:c.-293-4534dup NM_148921.3:c.-293-4535_-293-4534dup NM_148921.3:c.-293-4536_-293-4534dup NM_148921.3:c.-293-4537_-293-4534dup NM_148921.3:c.-293-4538_-293-4534dup NM_148921.3:c.-293-4539_-293-4534dup
EPN2 transcript variant 1 NM_148921.4:c.-293-4554= NM_148921.4:c.-293-4545_-293-4534del NM_148921.4:c.-293-4543_-293-4534del NM_148921.4:c.-293-4542_-293-4534del NM_148921.4:c.-293-4541_-293-4534del NM_148921.4:c.-293-4540_-293-4534del NM_148921.4:c.-293-4539_-293-4534del NM_148921.4:c.-293-4538_-293-4534del NM_148921.4:c.-293-4537_-293-4534del NM_148921.4:c.-293-4536_-293-4534del NM_148921.4:c.-293-4535_-293-4534del NM_148921.4:c.-293-4534del NM_148921.4:c.-293-4534dup NM_148921.4:c.-293-4535_-293-4534dup NM_148921.4:c.-293-4536_-293-4534dup NM_148921.4:c.-293-4537_-293-4534dup NM_148921.4:c.-293-4538_-293-4534dup NM_148921.4:c.-293-4539_-293-4534dup
EPN2 transcript variant X1 XM_005256538.1:c.-412-2461= XM_005256538.1:c.-412-2452_-412-2441del XM_005256538.1:c.-412-2450_-412-2441del XM_005256538.1:c.-412-2449_-412-2441del XM_005256538.1:c.-412-2448_-412-2441del XM_005256538.1:c.-412-2447_-412-2441del XM_005256538.1:c.-412-2446_-412-2441del XM_005256538.1:c.-412-2445_-412-2441del XM_005256538.1:c.-412-2444_-412-2441del XM_005256538.1:c.-412-2443_-412-2441del XM_005256538.1:c.-412-2442_-412-2441del XM_005256538.1:c.-412-2441del XM_005256538.1:c.-412-2441dup XM_005256538.1:c.-412-2442_-412-2441dup XM_005256538.1:c.-412-2443_-412-2441dup XM_005256538.1:c.-412-2444_-412-2441dup XM_005256538.1:c.-412-2445_-412-2441dup XM_005256538.1:c.-412-2446_-412-2441dup
EPN2 transcript variant X3 XM_005256540.1:c.-89-32484= XM_005256540.1:c.-89-32475_-89-32464del XM_005256540.1:c.-89-32473_-89-32464del XM_005256540.1:c.-89-32472_-89-32464del XM_005256540.1:c.-89-32471_-89-32464del XM_005256540.1:c.-89-32470_-89-32464del XM_005256540.1:c.-89-32469_-89-32464del XM_005256540.1:c.-89-32468_-89-32464del XM_005256540.1:c.-89-32467_-89-32464del XM_005256540.1:c.-89-32466_-89-32464del XM_005256540.1:c.-89-32465_-89-32464del XM_005256540.1:c.-89-32464del XM_005256540.1:c.-89-32464dup XM_005256540.1:c.-89-32465_-89-32464dup XM_005256540.1:c.-89-32466_-89-32464dup XM_005256540.1:c.-89-32467_-89-32464dup XM_005256540.1:c.-89-32468_-89-32464dup XM_005256540.1:c.-89-32469_-89-32464dup
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#.

41 SubSNP, 25 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGSV ss80130318 Dec 15, 2007 (129)
2 HGSV ss81486126 Dec 15, 2007 (129)
3 HGSV ss83716525 Dec 15, 2007 (129)
4 MCHAISSO ss3065643107 Nov 08, 2017 (151)
5 PACBIO ss3788167101 Jul 13, 2019 (153)
6 PACBIO ss3793132646 Jul 13, 2019 (153)
7 EVA ss3834811581 Apr 27, 2020 (154)
8 GNOMAD ss4308981380 Apr 26, 2021 (155)
9 GNOMAD ss4308981381 Apr 26, 2021 (155)
10 GNOMAD ss4308981382 Apr 26, 2021 (155)
11 GNOMAD ss4308981383 Apr 26, 2021 (155)
12 GNOMAD ss4308981384 Apr 26, 2021 (155)
13 GNOMAD ss4308981385 Apr 26, 2021 (155)
14 GNOMAD ss4308981386 Apr 26, 2021 (155)
15 GNOMAD ss4308981387 Apr 26, 2021 (155)
16 GNOMAD ss4308981388 Apr 26, 2021 (155)
17 GNOMAD ss4308981389 Apr 26, 2021 (155)
18 GNOMAD ss4308981390 Apr 26, 2021 (155)
19 GNOMAD ss4308981391 Apr 26, 2021 (155)
20 GNOMAD ss4308981392 Apr 26, 2021 (155)
21 TOMMO_GENOMICS ss5221791567 Apr 26, 2021 (155)
22 TOMMO_GENOMICS ss5221791568 Apr 26, 2021 (155)
23 TOMMO_GENOMICS ss5221791569 Apr 26, 2021 (155)
24 TOMMO_GENOMICS ss5221791570 Apr 26, 2021 (155)
25 TOMMO_GENOMICS ss5221791571 Apr 26, 2021 (155)
26 TOMMO_GENOMICS ss5221791572 Apr 26, 2021 (155)
27 1000G_HIGH_COVERAGE ss5302649557 Oct 17, 2022 (156)
28 1000G_HIGH_COVERAGE ss5302649558 Oct 17, 2022 (156)
29 1000G_HIGH_COVERAGE ss5302649559 Oct 17, 2022 (156)
30 1000G_HIGH_COVERAGE ss5302649561 Oct 17, 2022 (156)
31 1000G_HIGH_COVERAGE ss5302649562 Oct 17, 2022 (156)
32 HUGCELL_USP ss5495789118 Oct 17, 2022 (156)
33 HUGCELL_USP ss5495789119 Oct 17, 2022 (156)
34 HUGCELL_USP ss5495789120 Oct 17, 2022 (156)
35 HUGCELL_USP ss5495789121 Oct 17, 2022 (156)
36 TOMMO_GENOMICS ss5777474696 Oct 17, 2022 (156)
37 TOMMO_GENOMICS ss5777474697 Oct 17, 2022 (156)
38 TOMMO_GENOMICS ss5777474699 Oct 17, 2022 (156)
39 TOMMO_GENOMICS ss5777474700 Oct 17, 2022 (156)
40 EVA ss5833808765 Oct 17, 2022 (156)
41 EVA ss5980957506 Oct 17, 2022 (156)
42 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 503222065 (NC_000017.11:19277400::A 1684/67906)
Row 503222066 (NC_000017.11:19277400::AA 2351/67962)
Row 503222067 (NC_000017.11:19277400::AAA 57/68234)...

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

Submission ignored due to conflicting rows:
Row 503222065 (NC_000017.11:19277400::A 1684/67906)
Row 503222066 (NC_000017.11:19277400::AA 2351/67962)
Row 503222067 (NC_000017.11:19277400::AAA 57/68234)...

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

Submission ignored due to conflicting rows:
Row 503222065 (NC_000017.11:19277400::A 1684/67906)
Row 503222066 (NC_000017.11:19277400::AA 2351/67962)
Row 503222067 (NC_000017.11:19277400::AAA 57/68234)...

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

Submission ignored due to conflicting rows:
Row 503222065 (NC_000017.11:19277400::A 1684/67906)
Row 503222066 (NC_000017.11:19277400::AA 2351/67962)
Row 503222067 (NC_000017.11:19277400::AAA 57/68234)...

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

Submission ignored due to conflicting rows:
Row 503222065 (NC_000017.11:19277400::A 1684/67906)
Row 503222066 (NC_000017.11:19277400::AA 2351/67962)
Row 503222067 (NC_000017.11:19277400::AAA 57/68234)...

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

Submission ignored due to conflicting rows:
Row 503222065 (NC_000017.11:19277400::A 1684/67906)
Row 503222066 (NC_000017.11:19277400::AA 2351/67962)
Row 503222067 (NC_000017.11:19277400::AAA 57/68234)...

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

Submission ignored due to conflicting rows:
Row 503222065 (NC_000017.11:19277400::A 1684/67906)
Row 503222066 (NC_000017.11:19277400::AA 2351/67962)
Row 503222067 (NC_000017.11:19277400::AAA 57/68234)...

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

Submission ignored due to conflicting rows:
Row 503222065 (NC_000017.11:19277400::A 1684/67906)
Row 503222066 (NC_000017.11:19277400::AA 2351/67962)
Row 503222067 (NC_000017.11:19277400::AAA 57/68234)...

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

Submission ignored due to conflicting rows:
Row 503222065 (NC_000017.11:19277400::A 1684/67906)
Row 503222066 (NC_000017.11:19277400::AA 2351/67962)
Row 503222067 (NC_000017.11:19277400::AAA 57/68234)...

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

Submission ignored due to conflicting rows:
Row 503222065 (NC_000017.11:19277400::A 1684/67906)
Row 503222066 (NC_000017.11:19277400::AA 2351/67962)
Row 503222067 (NC_000017.11:19277400::AAA 57/68234)...

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

Submission ignored due to conflicting rows:
Row 503222065 (NC_000017.11:19277400::A 1684/67906)
Row 503222066 (NC_000017.11:19277400::AA 2351/67962)
Row 503222067 (NC_000017.11:19277400::AAA 57/68234)...

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

Submission ignored due to conflicting rows:
Row 503222065 (NC_000017.11:19277400::A 1684/67906)
Row 503222066 (NC_000017.11:19277400::AA 2351/67962)
Row 503222067 (NC_000017.11:19277400::AAA 57/68234)...

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

Submission ignored due to conflicting rows:
Row 503222065 (NC_000017.11:19277400::A 1684/67906)
Row 503222066 (NC_000017.11:19277400::AA 2351/67962)
Row 503222067 (NC_000017.11:19277400::AAA 57/68234)...

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

Submission ignored due to conflicting rows:
Row 503222065 (NC_000017.11:19277400::A 1684/67906)
Row 503222066 (NC_000017.11:19277400::AA 2351/67962)
Row 503222067 (NC_000017.11:19277400::AAA 57/68234)...

- Apr 26, 2021 (155)
56 8.3KJPN

Submission ignored due to conflicting rows:
Row 79760874 (NC_000017.10:19180713:A: 8909/15462)
Row 79760875 (NC_000017.10:19180713::AA 2377/15462)
Row 79760876 (NC_000017.10:19180713:AAA: 50/15462)...

- Apr 26, 2021 (155)
57 8.3KJPN

Submission ignored due to conflicting rows:
Row 79760874 (NC_000017.10:19180713:A: 8909/15462)
Row 79760875 (NC_000017.10:19180713::AA 2377/15462)
Row 79760876 (NC_000017.10:19180713:AAA: 50/15462)...

- Apr 26, 2021 (155)
58 8.3KJPN

Submission ignored due to conflicting rows:
Row 79760874 (NC_000017.10:19180713:A: 8909/15462)
Row 79760875 (NC_000017.10:19180713::AA 2377/15462)
Row 79760876 (NC_000017.10:19180713:AAA: 50/15462)...

- Apr 26, 2021 (155)
59 8.3KJPN

Submission ignored due to conflicting rows:
Row 79760874 (NC_000017.10:19180713:A: 8909/15462)
Row 79760875 (NC_000017.10:19180713::AA 2377/15462)
Row 79760876 (NC_000017.10:19180713:AAA: 50/15462)...

- Apr 26, 2021 (155)
60 8.3KJPN

Submission ignored due to conflicting rows:
Row 79760874 (NC_000017.10:19180713:A: 8909/15462)
Row 79760875 (NC_000017.10:19180713::AA 2377/15462)
Row 79760876 (NC_000017.10:19180713:AAA: 50/15462)...

- Apr 26, 2021 (155)
61 8.3KJPN

Submission ignored due to conflicting rows:
Row 79760874 (NC_000017.10:19180713:A: 8909/15462)
Row 79760875 (NC_000017.10:19180713::AA 2377/15462)
Row 79760876 (NC_000017.10:19180713:AAA: 50/15462)...

- Apr 26, 2021 (155)
62 14KJPN

Submission ignored due to conflicting rows:
Row 111311800 (NC_000017.11:19277400:A: 14757/24566)
Row 111311801 (NC_000017.11:19277400::AA 3593/24566)
Row 111311803 (NC_000017.11:19277400::AAA 32/24566)...

- Oct 17, 2022 (156)
63 14KJPN

Submission ignored due to conflicting rows:
Row 111311800 (NC_000017.11:19277400:A: 14757/24566)
Row 111311801 (NC_000017.11:19277400::AA 3593/24566)
Row 111311803 (NC_000017.11:19277400::AAA 32/24566)...

- Oct 17, 2022 (156)
64 14KJPN

Submission ignored due to conflicting rows:
Row 111311800 (NC_000017.11:19277400:A: 14757/24566)
Row 111311801 (NC_000017.11:19277400::AA 3593/24566)
Row 111311803 (NC_000017.11:19277400::AAA 32/24566)...

- Oct 17, 2022 (156)
65 14KJPN

Submission ignored due to conflicting rows:
Row 111311800 (NC_000017.11:19277400:A: 14757/24566)
Row 111311801 (NC_000017.11:19277400::AA 3593/24566)
Row 111311803 (NC_000017.11:19277400::AAA 32/24566)...

- Oct 17, 2022 (156)
66 ALFA NC_000017.11 - 19277401 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)
rs67156898 May 11, 2012 (137)
rs67156899 Feb 26, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
4974754058 NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA

NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA

(self)
ss4308981392 NC_000017.11:19277400:AAAAAAAAAA: NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
4974754058 NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
ss4308981391 NC_000017.11:19277400:AAAAAAAAA: NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
4974754058 NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss5221791572 NC_000017.10:19180713:AAAAAAAA: NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
4974754058 NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss4308981390 NC_000017.11:19277400:AAAAAAA: NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
4974754058 NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss5980957506 NC_000017.10:19180713:AAAAAA: NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

ss4308981389 NC_000017.11:19277400:AAAAAA: NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
4974754058 NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss4308981388 NC_000017.11:19277400:AAAA: NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
4974754058 NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss5221791569 NC_000017.10:19180713:AAA: NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss4308981387, ss5777474700 NC_000017.11:19277400:AAA: NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
4974754058 NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss5221791570, ss5833808765 NC_000017.10:19180713:AA: NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss4308981386, ss5302649559, ss5495789121 NC_000017.11:19277400:AA: NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
4974754058 NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss80130318, ss81486126, ss83716525 NC_000017.9:19121326:A: NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss3788167101, ss3793132646, ss3834811581, ss5221791567 NC_000017.10:19180713:A: NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss3065643107, ss5302649557, ss5495789118, ss5777474696 NC_000017.11:19277400:A: NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
4974754058 NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss4308981380, ss5302649562, ss5495789119 NC_000017.11:19277400::A NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
4974754058 NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss5221791568 NC_000017.10:19180713::AA NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4308981381, ss5302649561, ss5495789120, ss5777474697 NC_000017.11:19277400::AA NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
4974754058 NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss5221791571 NC_000017.10:19180713::AAA NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4308981382, ss5777474699 NC_000017.11:19277400::AAA NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
4974754058 NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4308981383, ss5302649558 NC_000017.11:19277400::AAAA NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
4974754058 NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4308981384 NC_000017.11:19277400::AAAAA NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4308981385 NC_000017.11:19277400::AAAAAA NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss3258879050 NC_000017.11:19277400:AAAAA: NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

154196091, ss3258879054 NC_000017.11:19277400:AAAAAAAAAAAA: NC_000017.11:19277400:AAAAAAAAAAAA…

NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA

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 rs58679739

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