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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.

rs59097041

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:95356194-95356212 (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)9 / del(A)7 / del(A)6 / del(…

del(A)9 / del(A)7 / del(A)6 / del(A)5 / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)4 / dup(A)5 / dup(A)6 / dup(A)7 / dup(A)8 / dup(A)9 / dup(A)10 / dup(A)11 / dup(A)12 / dup(A)13 / dup(A)14 / dup(A)15 / dup(A)16 / dup(A)17 / dup(A)18 / dup(A)19 / ins(A)20 / ins(A)21 / ins(A)22 / ins(A)23 / ins(A)24

Variation Type
Indel Insertion and Deletion
Frequency
del(A)7=0.0000 (0/8270, ALFA)
del(A)6=0.0000 (0/8270, ALFA)
delAAA=0.0000 (0/8270, ALFA) (+ 7 more)
delAA=0.0000 (0/8270, ALFA)
delA=0.0000 (0/8270, ALFA)
dupA=0.0000 (0/8270, ALFA)
dupAA=0.0000 (0/8270, ALFA)
dup(A)4=0.0000 (0/8270, ALFA)
dup(A)6=0.0000 (0/8270, ALFA)
dup(A)9=0.0000 (0/8270, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
UNC5C : 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 8270 AAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
European Sub 5440 AAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Sub 2156 AAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Others Sub 74 AAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African American Sub 2082 AAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
Asian Sub 6 AAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
East Asian Sub 4 AAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Other Asian Sub 2 AAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Latin American 1 Sub 112 AAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 232 AAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 60 AAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 264 AAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
Allele Frequency Aggregator Total Global 8270 (A)19=1.0000 del(A)7=0.0000, del(A)6=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dup(A)4=0.0000, dup(A)6=0.0000, dup(A)9=0.0000
Allele Frequency Aggregator European Sub 5440 (A)19=1.0000 del(A)7=0.0000, del(A)6=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dup(A)4=0.0000, dup(A)6=0.0000, dup(A)9=0.0000
Allele Frequency Aggregator African Sub 2156 (A)19=1.0000 del(A)7=0.0000, del(A)6=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dup(A)4=0.0000, dup(A)6=0.0000, dup(A)9=0.0000
Allele Frequency Aggregator Other Sub 264 (A)19=1.000 del(A)7=0.000, del(A)6=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dup(A)4=0.000, dup(A)6=0.000, dup(A)9=0.000
Allele Frequency Aggregator Latin American 2 Sub 232 (A)19=1.000 del(A)7=0.000, del(A)6=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dup(A)4=0.000, dup(A)6=0.000, dup(A)9=0.000
Allele Frequency Aggregator Latin American 1 Sub 112 (A)19=1.000 del(A)7=0.000, del(A)6=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dup(A)4=0.000, dup(A)6=0.000, dup(A)9=0.000
Allele Frequency Aggregator South Asian Sub 60 (A)19=1.00 del(A)7=0.00, del(A)6=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dup(A)4=0.00, dup(A)6=0.00, dup(A)9=0.00
Allele Frequency Aggregator Asian Sub 6 (A)19=1.0 del(A)7=0.0, del(A)6=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dup(A)4=0.0, dup(A)6=0.0, dup(A)9=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 4 NC_000004.12:g.95356204_95356212del
GRCh38.p14 chr 4 NC_000004.12:g.95356206_95356212del
GRCh38.p14 chr 4 NC_000004.12:g.95356207_95356212del
GRCh38.p14 chr 4 NC_000004.12:g.95356208_95356212del
GRCh38.p14 chr 4 NC_000004.12:g.95356210_95356212del
GRCh38.p14 chr 4 NC_000004.12:g.95356211_95356212del
GRCh38.p14 chr 4 NC_000004.12:g.95356212del
GRCh38.p14 chr 4 NC_000004.12:g.95356212dup
GRCh38.p14 chr 4 NC_000004.12:g.95356211_95356212dup
GRCh38.p14 chr 4 NC_000004.12:g.95356210_95356212dup
GRCh38.p14 chr 4 NC_000004.12:g.95356209_95356212dup
GRCh38.p14 chr 4 NC_000004.12:g.95356208_95356212dup
GRCh38.p14 chr 4 NC_000004.12:g.95356207_95356212dup
GRCh38.p14 chr 4 NC_000004.12:g.95356206_95356212dup
GRCh38.p14 chr 4 NC_000004.12:g.95356205_95356212dup
GRCh38.p14 chr 4 NC_000004.12:g.95356204_95356212dup
GRCh38.p14 chr 4 NC_000004.12:g.95356203_95356212dup
GRCh38.p14 chr 4 NC_000004.12:g.95356202_95356212dup
GRCh38.p14 chr 4 NC_000004.12:g.95356201_95356212dup
GRCh38.p14 chr 4 NC_000004.12:g.95356200_95356212dup
GRCh38.p14 chr 4 NC_000004.12:g.95356199_95356212dup
GRCh38.p14 chr 4 NC_000004.12:g.95356198_95356212dup
GRCh38.p14 chr 4 NC_000004.12:g.95356197_95356212dup
GRCh38.p14 chr 4 NC_000004.12:g.95356196_95356212dup
GRCh38.p14 chr 4 NC_000004.12:g.95356195_95356212dup
GRCh38.p14 chr 4 NC_000004.12:g.95356194_95356212dup
GRCh38.p14 chr 4 NC_000004.12:g.95356212_95356213insAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 4 NC_000004.12:g.95356212_95356213insAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 4 NC_000004.12:g.95356212_95356213insAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 4 NC_000004.12:g.95356212_95356213insAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 4 NC_000004.12:g.95356212_95356213insAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 4 NC_000004.11:g.96277355_96277363del
GRCh37.p13 chr 4 NC_000004.11:g.96277357_96277363del
GRCh37.p13 chr 4 NC_000004.11:g.96277358_96277363del
GRCh37.p13 chr 4 NC_000004.11:g.96277359_96277363del
GRCh37.p13 chr 4 NC_000004.11:g.96277361_96277363del
GRCh37.p13 chr 4 NC_000004.11:g.96277362_96277363del
GRCh37.p13 chr 4 NC_000004.11:g.96277363del
GRCh37.p13 chr 4 NC_000004.11:g.96277363dup
GRCh37.p13 chr 4 NC_000004.11:g.96277362_96277363dup
GRCh37.p13 chr 4 NC_000004.11:g.96277361_96277363dup
GRCh37.p13 chr 4 NC_000004.11:g.96277360_96277363dup
GRCh37.p13 chr 4 NC_000004.11:g.96277359_96277363dup
GRCh37.p13 chr 4 NC_000004.11:g.96277358_96277363dup
GRCh37.p13 chr 4 NC_000004.11:g.96277357_96277363dup
GRCh37.p13 chr 4 NC_000004.11:g.96277356_96277363dup
GRCh37.p13 chr 4 NC_000004.11:g.96277355_96277363dup
GRCh37.p13 chr 4 NC_000004.11:g.96277354_96277363dup
GRCh37.p13 chr 4 NC_000004.11:g.96277353_96277363dup
GRCh37.p13 chr 4 NC_000004.11:g.96277352_96277363dup
GRCh37.p13 chr 4 NC_000004.11:g.96277351_96277363dup
GRCh37.p13 chr 4 NC_000004.11:g.96277350_96277363dup
GRCh37.p13 chr 4 NC_000004.11:g.96277349_96277363dup
GRCh37.p13 chr 4 NC_000004.11:g.96277348_96277363dup
GRCh37.p13 chr 4 NC_000004.11:g.96277347_96277363dup
GRCh37.p13 chr 4 NC_000004.11:g.96277346_96277363dup
GRCh37.p13 chr 4 NC_000004.11:g.96277345_96277363dup
GRCh37.p13 chr 4 NC_000004.11:g.96277363_96277364insAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 4 NC_000004.11:g.96277363_96277364insAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 4 NC_000004.11:g.96277363_96277364insAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 4 NC_000004.11:g.96277363_96277364insAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 4 NC_000004.11:g.96277363_96277364insAAAAAAAAAAAAAAAAAAAAAAAA
Gene: UNC5C, unc-5 netrin receptor C (minus strand)
Molecule type Change Amino acid[Codon] SO Term
UNC5C transcript NM_003728.4:c.125-20571_1…

NM_003728.4:c.125-20571_125-20563del

N/A Intron Variant
UNC5C transcript variant X1 XM_005263321.4:c.125-2057…

XM_005263321.4:c.125-20571_125-20563del

N/A Intron Variant
UNC5C transcript variant X2 XM_047416345.1:c.-978+193…

XM_047416345.1:c.-978+193_-978+201del

N/A Intron Variant
UNC5C transcript variant X3 XM_047416346.1:c.-978+193…

XM_047416346.1:c.-978+193_-978+201del

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)19= del(A)9 del(A)7 del(A)6 del(A)5 delAAA delAA delA dupA dupAA dupAAA dup(A)4 dup(A)5 dup(A)6 dup(A)7 dup(A)8 dup(A)9 dup(A)10 dup(A)11 dup(A)12 dup(A)13 dup(A)14 dup(A)15 dup(A)16 dup(A)17 dup(A)18 dup(A)19 ins(A)20 ins(A)21 ins(A)22 ins(A)23 ins(A)24
GRCh38.p14 chr 4 NC_000004.12:g.95356194_95356212= NC_000004.12:g.95356204_95356212del NC_000004.12:g.95356206_95356212del NC_000004.12:g.95356207_95356212del NC_000004.12:g.95356208_95356212del NC_000004.12:g.95356210_95356212del NC_000004.12:g.95356211_95356212del NC_000004.12:g.95356212del NC_000004.12:g.95356212dup NC_000004.12:g.95356211_95356212dup NC_000004.12:g.95356210_95356212dup NC_000004.12:g.95356209_95356212dup NC_000004.12:g.95356208_95356212dup NC_000004.12:g.95356207_95356212dup NC_000004.12:g.95356206_95356212dup NC_000004.12:g.95356205_95356212dup NC_000004.12:g.95356204_95356212dup NC_000004.12:g.95356203_95356212dup NC_000004.12:g.95356202_95356212dup NC_000004.12:g.95356201_95356212dup NC_000004.12:g.95356200_95356212dup NC_000004.12:g.95356199_95356212dup NC_000004.12:g.95356198_95356212dup NC_000004.12:g.95356197_95356212dup NC_000004.12:g.95356196_95356212dup NC_000004.12:g.95356195_95356212dup NC_000004.12:g.95356194_95356212dup NC_000004.12:g.95356212_95356213insAAAAAAAAAAAAAAAAAAAA NC_000004.12:g.95356212_95356213insAAAAAAAAAAAAAAAAAAAAA NC_000004.12:g.95356212_95356213insAAAAAAAAAAAAAAAAAAAAAA NC_000004.12:g.95356212_95356213insAAAAAAAAAAAAAAAAAAAAAAA NC_000004.12:g.95356212_95356213insAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 4 NC_000004.11:g.96277345_96277363= NC_000004.11:g.96277355_96277363del NC_000004.11:g.96277357_96277363del NC_000004.11:g.96277358_96277363del NC_000004.11:g.96277359_96277363del NC_000004.11:g.96277361_96277363del NC_000004.11:g.96277362_96277363del NC_000004.11:g.96277363del NC_000004.11:g.96277363dup NC_000004.11:g.96277362_96277363dup NC_000004.11:g.96277361_96277363dup NC_000004.11:g.96277360_96277363dup NC_000004.11:g.96277359_96277363dup NC_000004.11:g.96277358_96277363dup NC_000004.11:g.96277357_96277363dup NC_000004.11:g.96277356_96277363dup NC_000004.11:g.96277355_96277363dup NC_000004.11:g.96277354_96277363dup NC_000004.11:g.96277353_96277363dup NC_000004.11:g.96277352_96277363dup NC_000004.11:g.96277351_96277363dup NC_000004.11:g.96277350_96277363dup NC_000004.11:g.96277349_96277363dup NC_000004.11:g.96277348_96277363dup NC_000004.11:g.96277347_96277363dup NC_000004.11:g.96277346_96277363dup NC_000004.11:g.96277345_96277363dup NC_000004.11:g.96277363_96277364insAAAAAAAAAAAAAAAAAAAA NC_000004.11:g.96277363_96277364insAAAAAAAAAAAAAAAAAAAAA NC_000004.11:g.96277363_96277364insAAAAAAAAAAAAAAAAAAAAAA NC_000004.11:g.96277363_96277364insAAAAAAAAAAAAAAAAAAAAAAA NC_000004.11:g.96277363_96277364insAAAAAAAAAAAAAAAAAAAAAAAA
UNC5C transcript NM_003728.3:c.125-20563= NM_003728.3:c.125-20571_125-20563del NM_003728.3:c.125-20569_125-20563del NM_003728.3:c.125-20568_125-20563del NM_003728.3:c.125-20567_125-20563del NM_003728.3:c.125-20565_125-20563del NM_003728.3:c.125-20564_125-20563del NM_003728.3:c.125-20563del NM_003728.3:c.125-20563dup NM_003728.3:c.125-20564_125-20563dup NM_003728.3:c.125-20565_125-20563dup NM_003728.3:c.125-20566_125-20563dup NM_003728.3:c.125-20567_125-20563dup NM_003728.3:c.125-20568_125-20563dup NM_003728.3:c.125-20569_125-20563dup NM_003728.3:c.125-20570_125-20563dup NM_003728.3:c.125-20571_125-20563dup NM_003728.3:c.125-20572_125-20563dup NM_003728.3:c.125-20573_125-20563dup NM_003728.3:c.125-20574_125-20563dup NM_003728.3:c.125-20575_125-20563dup NM_003728.3:c.125-20576_125-20563dup NM_003728.3:c.125-20577_125-20563dup NM_003728.3:c.125-20578_125-20563dup NM_003728.3:c.125-20579_125-20563dup NM_003728.3:c.125-20580_125-20563dup NM_003728.3:c.125-20581_125-20563dup NM_003728.3:c.125-20563_125-20562insTTTTTTTTTTTTTTTTTTTT NM_003728.3:c.125-20563_125-20562insTTTTTTTTTTTTTTTTTTTTT NM_003728.3:c.125-20563_125-20562insTTTTTTTTTTTTTTTTTTTTTT NM_003728.3:c.125-20563_125-20562insTTTTTTTTTTTTTTTTTTTTTTT NM_003728.3:c.125-20563_125-20562insTTTTTTTTTTTTTTTTTTTTTTTT
UNC5C transcript NM_003728.4:c.125-20563= NM_003728.4:c.125-20571_125-20563del NM_003728.4:c.125-20569_125-20563del NM_003728.4:c.125-20568_125-20563del NM_003728.4:c.125-20567_125-20563del NM_003728.4:c.125-20565_125-20563del NM_003728.4:c.125-20564_125-20563del NM_003728.4:c.125-20563del NM_003728.4:c.125-20563dup NM_003728.4:c.125-20564_125-20563dup NM_003728.4:c.125-20565_125-20563dup NM_003728.4:c.125-20566_125-20563dup NM_003728.4:c.125-20567_125-20563dup NM_003728.4:c.125-20568_125-20563dup NM_003728.4:c.125-20569_125-20563dup NM_003728.4:c.125-20570_125-20563dup NM_003728.4:c.125-20571_125-20563dup NM_003728.4:c.125-20572_125-20563dup NM_003728.4:c.125-20573_125-20563dup NM_003728.4:c.125-20574_125-20563dup NM_003728.4:c.125-20575_125-20563dup NM_003728.4:c.125-20576_125-20563dup NM_003728.4:c.125-20577_125-20563dup NM_003728.4:c.125-20578_125-20563dup NM_003728.4:c.125-20579_125-20563dup NM_003728.4:c.125-20580_125-20563dup NM_003728.4:c.125-20581_125-20563dup NM_003728.4:c.125-20563_125-20562insTTTTTTTTTTTTTTTTTTTT NM_003728.4:c.125-20563_125-20562insTTTTTTTTTTTTTTTTTTTTT NM_003728.4:c.125-20563_125-20562insTTTTTTTTTTTTTTTTTTTTTT NM_003728.4:c.125-20563_125-20562insTTTTTTTTTTTTTTTTTTTTTTT NM_003728.4:c.125-20563_125-20562insTTTTTTTTTTTTTTTTTTTTTTTT
UNC5C transcript variant X1 XM_005263321.1:c.125-20563= XM_005263321.1:c.125-20571_125-20563del XM_005263321.1:c.125-20569_125-20563del XM_005263321.1:c.125-20568_125-20563del XM_005263321.1:c.125-20567_125-20563del XM_005263321.1:c.125-20565_125-20563del XM_005263321.1:c.125-20564_125-20563del XM_005263321.1:c.125-20563del XM_005263321.1:c.125-20563dup XM_005263321.1:c.125-20564_125-20563dup XM_005263321.1:c.125-20565_125-20563dup XM_005263321.1:c.125-20566_125-20563dup XM_005263321.1:c.125-20567_125-20563dup XM_005263321.1:c.125-20568_125-20563dup XM_005263321.1:c.125-20569_125-20563dup XM_005263321.1:c.125-20570_125-20563dup XM_005263321.1:c.125-20571_125-20563dup XM_005263321.1:c.125-20572_125-20563dup XM_005263321.1:c.125-20573_125-20563dup XM_005263321.1:c.125-20574_125-20563dup XM_005263321.1:c.125-20575_125-20563dup XM_005263321.1:c.125-20576_125-20563dup XM_005263321.1:c.125-20577_125-20563dup XM_005263321.1:c.125-20578_125-20563dup XM_005263321.1:c.125-20579_125-20563dup XM_005263321.1:c.125-20580_125-20563dup XM_005263321.1:c.125-20581_125-20563dup XM_005263321.1:c.125-20563_125-20562insTTTTTTTTTTTTTTTTTTTT XM_005263321.1:c.125-20563_125-20562insTTTTTTTTTTTTTTTTTTTTT XM_005263321.1:c.125-20563_125-20562insTTTTTTTTTTTTTTTTTTTTTT XM_005263321.1:c.125-20563_125-20562insTTTTTTTTTTTTTTTTTTTTTTT XM_005263321.1:c.125-20563_125-20562insTTTTTTTTTTTTTTTTTTTTTTTT
UNC5C transcript variant X1 XM_005263321.4:c.125-20563= XM_005263321.4:c.125-20571_125-20563del XM_005263321.4:c.125-20569_125-20563del XM_005263321.4:c.125-20568_125-20563del XM_005263321.4:c.125-20567_125-20563del XM_005263321.4:c.125-20565_125-20563del XM_005263321.4:c.125-20564_125-20563del XM_005263321.4:c.125-20563del XM_005263321.4:c.125-20563dup XM_005263321.4:c.125-20564_125-20563dup XM_005263321.4:c.125-20565_125-20563dup XM_005263321.4:c.125-20566_125-20563dup XM_005263321.4:c.125-20567_125-20563dup XM_005263321.4:c.125-20568_125-20563dup XM_005263321.4:c.125-20569_125-20563dup XM_005263321.4:c.125-20570_125-20563dup XM_005263321.4:c.125-20571_125-20563dup XM_005263321.4:c.125-20572_125-20563dup XM_005263321.4:c.125-20573_125-20563dup XM_005263321.4:c.125-20574_125-20563dup XM_005263321.4:c.125-20575_125-20563dup XM_005263321.4:c.125-20576_125-20563dup XM_005263321.4:c.125-20577_125-20563dup XM_005263321.4:c.125-20578_125-20563dup XM_005263321.4:c.125-20579_125-20563dup XM_005263321.4:c.125-20580_125-20563dup XM_005263321.4:c.125-20581_125-20563dup XM_005263321.4:c.125-20563_125-20562insTTTTTTTTTTTTTTTTTTTT XM_005263321.4:c.125-20563_125-20562insTTTTTTTTTTTTTTTTTTTTT XM_005263321.4:c.125-20563_125-20562insTTTTTTTTTTTTTTTTTTTTTT XM_005263321.4:c.125-20563_125-20562insTTTTTTTTTTTTTTTTTTTTTTT XM_005263321.4:c.125-20563_125-20562insTTTTTTTTTTTTTTTTTTTTTTTT
UNC5C transcript variant X2 XM_047416345.1:c.-978+201= XM_047416345.1:c.-978+193_-978+201del XM_047416345.1:c.-978+195_-978+201del XM_047416345.1:c.-978+196_-978+201del XM_047416345.1:c.-978+197_-978+201del XM_047416345.1:c.-978+199_-978+201del XM_047416345.1:c.-978+200_-978+201del XM_047416345.1:c.-978+201del XM_047416345.1:c.-978+201dup XM_047416345.1:c.-978+200_-978+201dup XM_047416345.1:c.-978+199_-978+201dup XM_047416345.1:c.-978+198_-978+201dup XM_047416345.1:c.-978+197_-978+201dup XM_047416345.1:c.-978+196_-978+201dup XM_047416345.1:c.-978+195_-978+201dup XM_047416345.1:c.-978+194_-978+201dup XM_047416345.1:c.-978+193_-978+201dup XM_047416345.1:c.-978+192_-978+201dup XM_047416345.1:c.-978+191_-978+201dup XM_047416345.1:c.-978+190_-978+201dup XM_047416345.1:c.-978+189_-978+201dup XM_047416345.1:c.-978+188_-978+201dup XM_047416345.1:c.-978+187_-978+201dup XM_047416345.1:c.-978+186_-978+201dup XM_047416345.1:c.-978+185_-978+201dup XM_047416345.1:c.-978+184_-978+201dup XM_047416345.1:c.-978+183_-978+201dup XM_047416345.1:c.-978+201_-978+202insTTTTTTTTTTTTTTTTTTTT XM_047416345.1:c.-978+201_-978+202insTTTTTTTTTTTTTTTTTTTTT XM_047416345.1:c.-978+201_-978+202insTTTTTTTTTTTTTTTTTTTTTT XM_047416345.1:c.-978+201_-978+202insTTTTTTTTTTTTTTTTTTTTTTT XM_047416345.1:c.-978+201_-978+202insTTTTTTTTTTTTTTTTTTTTTTTT
UNC5C transcript variant X3 XM_047416346.1:c.-978+201= XM_047416346.1:c.-978+193_-978+201del XM_047416346.1:c.-978+195_-978+201del XM_047416346.1:c.-978+196_-978+201del XM_047416346.1:c.-978+197_-978+201del XM_047416346.1:c.-978+199_-978+201del XM_047416346.1:c.-978+200_-978+201del XM_047416346.1:c.-978+201del XM_047416346.1:c.-978+201dup XM_047416346.1:c.-978+200_-978+201dup XM_047416346.1:c.-978+199_-978+201dup XM_047416346.1:c.-978+198_-978+201dup XM_047416346.1:c.-978+197_-978+201dup XM_047416346.1:c.-978+196_-978+201dup XM_047416346.1:c.-978+195_-978+201dup XM_047416346.1:c.-978+194_-978+201dup XM_047416346.1:c.-978+193_-978+201dup XM_047416346.1:c.-978+192_-978+201dup XM_047416346.1:c.-978+191_-978+201dup XM_047416346.1:c.-978+190_-978+201dup XM_047416346.1:c.-978+189_-978+201dup XM_047416346.1:c.-978+188_-978+201dup XM_047416346.1:c.-978+187_-978+201dup XM_047416346.1:c.-978+186_-978+201dup XM_047416346.1:c.-978+185_-978+201dup XM_047416346.1:c.-978+184_-978+201dup XM_047416346.1:c.-978+183_-978+201dup XM_047416346.1:c.-978+201_-978+202insTTTTTTTTTTTTTTTTTTTT XM_047416346.1:c.-978+201_-978+202insTTTTTTTTTTTTTTTTTTTTT XM_047416346.1:c.-978+201_-978+202insTTTTTTTTTTTTTTTTTTTTTT XM_047416346.1:c.-978+201_-978+202insTTTTTTTTTTTTTTTTTTTTTTT XM_047416346.1:c.-978+201_-978+202insTTTTTTTTTTTTTTTTTTTTTTTT
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#.

60 SubSNP, 41 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGSV ss81497100 Dec 15, 2007 (129)
2 HGSV ss81747521 Dec 15, 2007 (129)
3 EVA_UK10K_ALSPAC ss1704268197 Apr 01, 2015 (144)
4 EVA_UK10K_TWINSUK ss1704268226 Apr 01, 2015 (144)
5 EVA_UK10K_TWINSUK ss1710159424 Apr 01, 2015 (144)
6 EVA_UK10K_ALSPAC ss1710159432 Apr 01, 2015 (144)
7 SWEGEN ss2995163845 Nov 08, 2017 (151)
8 URBANLAB ss3647795472 Oct 12, 2018 (152)
9 EVA_DECODE ss3712602589 Jul 13, 2019 (153)
10 EVA_DECODE ss3712602590 Jul 13, 2019 (153)
11 EVA_DECODE ss3712602591 Jul 13, 2019 (153)
12 EVA_DECODE ss3712602592 Jul 13, 2019 (153)
13 EVA_DECODE ss3712602593 Jul 13, 2019 (153)
14 EVA_DECODE ss3712602594 Jul 13, 2019 (153)
15 EVA ss3828689062 Apr 26, 2020 (154)
16 GNOMAD ss4116246203 Apr 26, 2021 (155)
17 GNOMAD ss4116246204 Apr 26, 2021 (155)
18 GNOMAD ss4116246205 Apr 26, 2021 (155)
19 GNOMAD ss4116246206 Apr 26, 2021 (155)
20 GNOMAD ss4116246207 Apr 26, 2021 (155)
21 GNOMAD ss4116246208 Apr 26, 2021 (155)
22 GNOMAD ss4116246209 Apr 26, 2021 (155)
23 GNOMAD ss4116246210 Apr 26, 2021 (155)
24 GNOMAD ss4116246211 Apr 26, 2021 (155)
25 GNOMAD ss4116246212 Apr 26, 2021 (155)
26 GNOMAD ss4116246213 Apr 26, 2021 (155)
27 GNOMAD ss4116246214 Apr 26, 2021 (155)
28 GNOMAD ss4116246215 Apr 26, 2021 (155)
29 GNOMAD ss4116246216 Apr 26, 2021 (155)
30 GNOMAD ss4116246217 Apr 26, 2021 (155)
31 GNOMAD ss4116246218 Apr 26, 2021 (155)
32 GNOMAD ss4116246219 Apr 26, 2021 (155)
33 GNOMAD ss4116246220 Apr 26, 2021 (155)
34 GNOMAD ss4116246221 Apr 26, 2021 (155)
35 GNOMAD ss4116246222 Apr 26, 2021 (155)
36 GNOMAD ss4116246223 Apr 26, 2021 (155)
37 GNOMAD ss4116246224 Apr 26, 2021 (155)
38 GNOMAD ss4116246225 Apr 26, 2021 (155)
39 GNOMAD ss4116246226 Apr 26, 2021 (155)
40 GNOMAD ss4116246228 Apr 26, 2021 (155)
41 GNOMAD ss4116246229 Apr 26, 2021 (155)
42 GNOMAD ss4116246230 Apr 26, 2021 (155)
43 GNOMAD ss4116246231 Apr 26, 2021 (155)
44 GNOMAD ss4116246232 Apr 26, 2021 (155)
45 GNOMAD ss4116246233 Apr 26, 2021 (155)
46 TOMMO_GENOMICS ss5166963643 Apr 26, 2021 (155)
47 TOMMO_GENOMICS ss5166963644 Apr 26, 2021 (155)
48 1000G_HIGH_COVERAGE ss5260194040 Oct 17, 2022 (156)
49 1000G_HIGH_COVERAGE ss5260194041 Oct 17, 2022 (156)
50 1000G_HIGH_COVERAGE ss5260194042 Oct 17, 2022 (156)
51 1000G_HIGH_COVERAGE ss5260194043 Oct 17, 2022 (156)
52 HUGCELL_USP ss5458846751 Oct 17, 2022 (156)
53 HUGCELL_USP ss5458846752 Oct 17, 2022 (156)
54 TOMMO_GENOMICS ss5701661983 Oct 17, 2022 (156)
55 TOMMO_GENOMICS ss5701661984 Oct 17, 2022 (156)
56 TOMMO_GENOMICS ss5701661985 Oct 17, 2022 (156)
57 TOMMO_GENOMICS ss5701661986 Oct 17, 2022 (156)
58 YY_MCH ss5805331881 Oct 17, 2022 (156)
59 EVA ss5844384018 Oct 17, 2022 (156)
60 EVA ss5844384019 Oct 17, 2022 (156)
61 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 12407349 (NC_000004.11:96277345:A: 1632/3854)
Row 12407350 (NC_000004.11:96277344:AAA: 774/3854)

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

Submission ignored due to conflicting rows:
Row 12407349 (NC_000004.11:96277345:A: 1632/3854)
Row 12407350 (NC_000004.11:96277344:AAA: 774/3854)

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

Submission ignored due to conflicting rows:
Row 158027238 (NC_000004.12:95356193::A 904/53024)
Row 158027239 (NC_000004.12:95356193::AA 59/53218)
Row 158027240 (NC_000004.12:95356193::AAA 33/53170)...

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

Submission ignored due to conflicting rows:
Row 158027238 (NC_000004.12:95356193::A 904/53024)
Row 158027239 (NC_000004.12:95356193::AA 59/53218)
Row 158027240 (NC_000004.12:95356193::AAA 33/53170)...

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

Submission ignored due to conflicting rows:
Row 158027238 (NC_000004.12:95356193::A 904/53024)
Row 158027239 (NC_000004.12:95356193::AA 59/53218)
Row 158027240 (NC_000004.12:95356193::AAA 33/53170)...

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

Submission ignored due to conflicting rows:
Row 158027238 (NC_000004.12:95356193::A 904/53024)
Row 158027239 (NC_000004.12:95356193::AA 59/53218)
Row 158027240 (NC_000004.12:95356193::AAA 33/53170)...

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

Submission ignored due to conflicting rows:
Row 158027238 (NC_000004.12:95356193::A 904/53024)
Row 158027239 (NC_000004.12:95356193::AA 59/53218)
Row 158027240 (NC_000004.12:95356193::AAA 33/53170)...

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

Submission ignored due to conflicting rows:
Row 158027238 (NC_000004.12:95356193::A 904/53024)
Row 158027239 (NC_000004.12:95356193::AA 59/53218)
Row 158027240 (NC_000004.12:95356193::AAA 33/53170)...

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

Submission ignored due to conflicting rows:
Row 158027238 (NC_000004.12:95356193::A 904/53024)
Row 158027239 (NC_000004.12:95356193::AA 59/53218)
Row 158027240 (NC_000004.12:95356193::AAA 33/53170)...

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

Submission ignored due to conflicting rows:
Row 158027238 (NC_000004.12:95356193::A 904/53024)
Row 158027239 (NC_000004.12:95356193::AA 59/53218)
Row 158027240 (NC_000004.12:95356193::AAA 33/53170)...

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

Submission ignored due to conflicting rows:
Row 158027238 (NC_000004.12:95356193::A 904/53024)
Row 158027239 (NC_000004.12:95356193::AA 59/53218)
Row 158027240 (NC_000004.12:95356193::AAA 33/53170)...

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

Submission ignored due to conflicting rows:
Row 158027238 (NC_000004.12:95356193::A 904/53024)
Row 158027239 (NC_000004.12:95356193::AA 59/53218)
Row 158027240 (NC_000004.12:95356193::AAA 33/53170)...

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

Submission ignored due to conflicting rows:
Row 158027238 (NC_000004.12:95356193::A 904/53024)
Row 158027239 (NC_000004.12:95356193::AA 59/53218)
Row 158027240 (NC_000004.12:95356193::AAA 33/53170)...

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

Submission ignored due to conflicting rows:
Row 158027238 (NC_000004.12:95356193::A 904/53024)
Row 158027239 (NC_000004.12:95356193::AA 59/53218)
Row 158027240 (NC_000004.12:95356193::AAA 33/53170)...

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

Submission ignored due to conflicting rows:
Row 158027238 (NC_000004.12:95356193::A 904/53024)
Row 158027239 (NC_000004.12:95356193::AA 59/53218)
Row 158027240 (NC_000004.12:95356193::AAA 33/53170)...

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

Submission ignored due to conflicting rows:
Row 158027238 (NC_000004.12:95356193::A 904/53024)
Row 158027239 (NC_000004.12:95356193::AA 59/53218)
Row 158027240 (NC_000004.12:95356193::AAA 33/53170)...

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

Submission ignored due to conflicting rows:
Row 158027238 (NC_000004.12:95356193::A 904/53024)
Row 158027239 (NC_000004.12:95356193::AA 59/53218)
Row 158027240 (NC_000004.12:95356193::AAA 33/53170)...

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

Submission ignored due to conflicting rows:
Row 158027238 (NC_000004.12:95356193::A 904/53024)
Row 158027239 (NC_000004.12:95356193::AA 59/53218)
Row 158027240 (NC_000004.12:95356193::AAA 33/53170)...

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

Submission ignored due to conflicting rows:
Row 158027238 (NC_000004.12:95356193::A 904/53024)
Row 158027239 (NC_000004.12:95356193::AA 59/53218)
Row 158027240 (NC_000004.12:95356193::AAA 33/53170)...

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

Submission ignored due to conflicting rows:
Row 158027238 (NC_000004.12:95356193::A 904/53024)
Row 158027239 (NC_000004.12:95356193::AA 59/53218)
Row 158027240 (NC_000004.12:95356193::AAA 33/53170)...

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

Submission ignored due to conflicting rows:
Row 158027238 (NC_000004.12:95356193::A 904/53024)
Row 158027239 (NC_000004.12:95356193::AA 59/53218)
Row 158027240 (NC_000004.12:95356193::AAA 33/53170)...

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

Submission ignored due to conflicting rows:
Row 158027238 (NC_000004.12:95356193::A 904/53024)
Row 158027239 (NC_000004.12:95356193::AA 59/53218)
Row 158027240 (NC_000004.12:95356193::AAA 33/53170)...

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

Submission ignored due to conflicting rows:
Row 158027238 (NC_000004.12:95356193::A 904/53024)
Row 158027239 (NC_000004.12:95356193::AA 59/53218)
Row 158027240 (NC_000004.12:95356193::AAA 33/53170)...

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

Submission ignored due to conflicting rows:
Row 158027238 (NC_000004.12:95356193::A 904/53024)
Row 158027239 (NC_000004.12:95356193::AA 59/53218)
Row 158027240 (NC_000004.12:95356193::AAA 33/53170)...

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

Submission ignored due to conflicting rows:
Row 158027238 (NC_000004.12:95356193::A 904/53024)
Row 158027239 (NC_000004.12:95356193::AA 59/53218)
Row 158027240 (NC_000004.12:95356193::AAA 33/53170)...

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

Submission ignored due to conflicting rows:
Row 158027238 (NC_000004.12:95356193::A 904/53024)
Row 158027239 (NC_000004.12:95356193::AA 59/53218)
Row 158027240 (NC_000004.12:95356193::AAA 33/53170)...

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

Submission ignored due to conflicting rows:
Row 158027238 (NC_000004.12:95356193::A 904/53024)
Row 158027239 (NC_000004.12:95356193::AA 59/53218)
Row 158027240 (NC_000004.12:95356193::AAA 33/53170)...

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

Submission ignored due to conflicting rows:
Row 158027238 (NC_000004.12:95356193::A 904/53024)
Row 158027239 (NC_000004.12:95356193::AA 59/53218)
Row 158027240 (NC_000004.12:95356193::AAA 33/53170)...

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

Submission ignored due to conflicting rows:
Row 158027238 (NC_000004.12:95356193::A 904/53024)
Row 158027239 (NC_000004.12:95356193::AA 59/53218)
Row 158027240 (NC_000004.12:95356193::AAA 33/53170)...

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

Submission ignored due to conflicting rows:
Row 158027238 (NC_000004.12:95356193::A 904/53024)
Row 158027239 (NC_000004.12:95356193::AA 59/53218)
Row 158027240 (NC_000004.12:95356193::AAA 33/53170)...

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

Submission ignored due to conflicting rows:
Row 158027238 (NC_000004.12:95356193::A 904/53024)
Row 158027239 (NC_000004.12:95356193::AA 59/53218)
Row 158027240 (NC_000004.12:95356193::AAA 33/53170)...

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

Submission ignored due to conflicting rows:
Row 158027238 (NC_000004.12:95356193::A 904/53024)
Row 158027239 (NC_000004.12:95356193::AA 59/53218)
Row 158027240 (NC_000004.12:95356193::AAA 33/53170)...

- Apr 26, 2021 (155)
93 8.3KJPN

Submission ignored due to conflicting rows:
Row 24932950 (NC_000004.11:96277344:A: 11892/16314)
Row 24932951 (NC_000004.11:96277344:AA: 18/16314)

- Apr 26, 2021 (155)
94 8.3KJPN

Submission ignored due to conflicting rows:
Row 24932950 (NC_000004.11:96277344:A: 11892/16314)
Row 24932951 (NC_000004.11:96277344:AA: 18/16314)

- Apr 26, 2021 (155)
95 14KJPN

Submission ignored due to conflicting rows:
Row 35499087 (NC_000004.12:95356193:A: 21315/27944)
Row 35499088 (NC_000004.12:95356193:AA: 26/27944)
Row 35499089 (NC_000004.12:95356193::AAAA 5/27944)...

- Oct 17, 2022 (156)
96 14KJPN

Submission ignored due to conflicting rows:
Row 35499087 (NC_000004.12:95356193:A: 21315/27944)
Row 35499088 (NC_000004.12:95356193:AA: 26/27944)
Row 35499089 (NC_000004.12:95356193::AAAA 5/27944)...

- Oct 17, 2022 (156)
97 14KJPN

Submission ignored due to conflicting rows:
Row 35499087 (NC_000004.12:95356193:A: 21315/27944)
Row 35499088 (NC_000004.12:95356193:AA: 26/27944)
Row 35499089 (NC_000004.12:95356193::AAAA 5/27944)...

- Oct 17, 2022 (156)
98 14KJPN

Submission ignored due to conflicting rows:
Row 35499087 (NC_000004.12:95356193:A: 21315/27944)
Row 35499088 (NC_000004.12:95356193:AA: 26/27944)
Row 35499089 (NC_000004.12:95356193::AAAA 5/27944)...

- Oct 17, 2022 (156)
99 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 12407349 (NC_000004.11:96277345:A: 1592/3708)
Row 12407350 (NC_000004.11:96277344:AAA: 737/3708)

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

Submission ignored due to conflicting rows:
Row 12407349 (NC_000004.11:96277345:A: 1592/3708)
Row 12407350 (NC_000004.11:96277344:AAA: 737/3708)

- Oct 12, 2018 (152)
101 ALFA NC_000004.12 - 95356194 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)
rs72481701 May 11, 2012 (137)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4116246233 NC_000004.12:95356193:AAAAAAAAA: NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

(self)
ss3712602594 NC_000004.12:95356193:AAAAAAA: NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
2934388354 NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss4116246232, ss5701661986 NC_000004.12:95356193:AAAAAA: NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
2934388354 NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss4116246231 NC_000004.12:95356193:AAAAA: NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss1704268197, ss1704268226, ss5844384019 NC_000004.11:96277344:AAA: NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss4116246230 NC_000004.12:95356193:AAA: NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
2934388354 NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss5166963644, ss5844384018 NC_000004.11:96277344:AA: NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss1710159424, ss1710159432 NC_000004.11:96277345:AA: NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss4116246229, ss5260194043, ss5701661984 NC_000004.12:95356193:AA: NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
2934388354 NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3712602593 NC_000004.12:95356198:AA: NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss81497100, ss81747521 NC_000004.9:96634540:A: NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss2995163845, ss3828689062, ss5166963643 NC_000004.11:96277344:A: NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
NC_000004.11:96277345:A: NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3647795472, ss4116246228, ss5458846751, ss5701661983, ss5805331881 NC_000004.12:95356193:A: NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
2934388354 NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3712602592 NC_000004.12:95356199:A: NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss4116246203, ss5260194040, ss5458846752 NC_000004.12:95356193::A NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
2934388354 NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss3712602591 NC_000004.12:95356200::A NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss4116246204 NC_000004.12:95356193::AA NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
2934388354 NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss4116246205 NC_000004.12:95356193::AAA NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss4116246206, ss5260194042, ss5701661985 NC_000004.12:95356193::AAAA NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
2934388354 NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4116246207, ss5260194041 NC_000004.12:95356193::AAAAA NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4116246208 NC_000004.12:95356193::AAAAAA NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
2934388354 NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4116246209 NC_000004.12:95356193::AAAAAAA NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3712602590 NC_000004.12:95356200::AAAAAAA NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4116246210 NC_000004.12:95356193::AAAAAAAA NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4116246211 NC_000004.12:95356193::AAAAAAAAA NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
2934388354 NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3712602589 NC_000004.12:95356200::AAAAAAAAA NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4116246212 NC_000004.12:95356193::AAAAAAAAAA NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4116246213 NC_000004.12:95356193::AAAAAAAAAAA NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4116246214 NC_000004.12:95356193::AAAAAAAAAAAA NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4116246215 NC_000004.12:95356193::AAAAAAAAAAA…

NC_000004.12:95356193::AAAAAAAAAAAAA

NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4116246216 NC_000004.12:95356193::AAAAAAAAAAA…

NC_000004.12:95356193::AAAAAAAAAAAAAA

NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4116246217 NC_000004.12:95356193::AAAAAAAAAAA…

NC_000004.12:95356193::AAAAAAAAAAAAAAA

NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4116246218 NC_000004.12:95356193::AAAAAAAAAAA…

NC_000004.12:95356193::AAAAAAAAAAAAAAAA

NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4116246219 NC_000004.12:95356193::AAAAAAAAAAA…

NC_000004.12:95356193::AAAAAAAAAAAAAAAAA

NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4116246220 NC_000004.12:95356193::AAAAAAAAAAA…

NC_000004.12:95356193::AAAAAAAAAAAAAAAAAA

NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4116246221 NC_000004.12:95356193::AAAAAAAAAAA…

NC_000004.12:95356193::AAAAAAAAAAAAAAAAAAA

NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4116246222 NC_000004.12:95356193::AAAAAAAAAAA…

NC_000004.12:95356193::AAAAAAAAAAAAAAAAAAAA

NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4116246223 NC_000004.12:95356193::AAAAAAAAAAA…

NC_000004.12:95356193::AAAAAAAAAAAAAAAAAAAAA

NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4116246224 NC_000004.12:95356193::AAAAAAAAAAA…

NC_000004.12:95356193::AAAAAAAAAAAAAAAAAAAAAA

NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4116246225 NC_000004.12:95356193::AAAAAAAAAAA…

NC_000004.12:95356193::AAAAAAAAAAAAAAAAAAAAAAA

NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4116246226 NC_000004.12:95356193::AAAAAAAAAAA…

NC_000004.12:95356193::AAAAAAAAAAAAAAAAAAAAAAAA

NC_000004.12:95356193:AAAAAAAAAAAA…

NC_000004.12:95356193:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(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 rs59097041

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