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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.

rs60228265

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:58040936-58040958 (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(T)11 / del(T)10 / del(T)8 / de…

del(T)11 / del(T)10 / del(T)8 / del(T)7 / del(T)6 / del(T)5 / del(T)4 / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)4 / dup(T)5 / dup(T)6 / dup(T)7 / dup(T)8 / dup(T)9 / ins(T)27 / ins(T)28 / ins(T)33 / ins(T)34 / ins(T)35 / ins(T)39

Variation Type
Indel Insertion and Deletion
Frequency
dupT=0.1731 (1251/7225, ALFA)
del(T)4=0.2590 (1297/5008, 1000G)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
FAM110B : 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 7225 TTTTTTTTTTTTTTTTTTTTTTT=0.7653 TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0216, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0287, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.1731, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0083, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0030 0.755818 0.103283 0.140899 32
European Sub 6315 TTTTTTTTTTTTTTTTTTTTTTT=0.7321 TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0247, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0325, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.1978, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0095, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0035 0.714978 0.120343 0.16468 32
African Sub 492 TTTTTTTTTTTTTTTTTTTTTTT=1.000 TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
African Others Sub 20 TTTTTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
African American Sub 472 TTTTTTTTTTTTTTTTTTTTTTT=1.000 TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
Asian Sub 22 TTTTTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
East Asian Sub 18 TTTTTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 4 TTTTTTTTTTTTTTTTTTTTTTT=1.0 TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
Latin American 1 Sub 36 TTTTTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 226 TTTTTTTTTTTTTTTTTTTTTTT=1.000 TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
South Asian Sub 18 TTTTTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Other Sub 116 TTTTTTTTTTTTTTTTTTTTTTT=0.966 TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.017, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.017, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000 0.982143 0.017857 0.0 30


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 7225 (T)23=0.7653 del(T)10=0.0000, del(T)8=0.0000, del(T)6=0.0000, del(T)5=0.0000, del(T)4=0.0216, delTTT=0.0000, delTT=0.0287, delT=0.0000, dupT=0.1731, dupTT=0.0083, dupTTT=0.0030
Allele Frequency Aggregator European Sub 6315 (T)23=0.7321 del(T)10=0.0000, del(T)8=0.0000, del(T)6=0.0000, del(T)5=0.0000, del(T)4=0.0247, delTTT=0.0000, delTT=0.0325, delT=0.0000, dupT=0.1978, dupTT=0.0095, dupTTT=0.0035
Allele Frequency Aggregator African Sub 492 (T)23=1.000 del(T)10=0.000, del(T)8=0.000, del(T)6=0.000, del(T)5=0.000, del(T)4=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000
Allele Frequency Aggregator Latin American 2 Sub 226 (T)23=1.000 del(T)10=0.000, del(T)8=0.000, del(T)6=0.000, del(T)5=0.000, del(T)4=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000
Allele Frequency Aggregator Other Sub 116 (T)23=0.966 del(T)10=0.000, del(T)8=0.000, del(T)6=0.000, del(T)5=0.000, del(T)4=0.000, delTTT=0.000, delTT=0.017, delT=0.000, dupT=0.017, dupTT=0.000, dupTTT=0.000
Allele Frequency Aggregator Latin American 1 Sub 36 (T)23=1.00 del(T)10=0.00, del(T)8=0.00, del(T)6=0.00, del(T)5=0.00, del(T)4=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
Allele Frequency Aggregator Asian Sub 22 (T)23=1.00 del(T)10=0.00, del(T)8=0.00, del(T)6=0.00, del(T)5=0.00, del(T)4=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
Allele Frequency Aggregator South Asian Sub 18 (T)23=1.00 del(T)10=0.00, del(T)8=0.00, del(T)6=0.00, del(T)5=0.00, del(T)4=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
1000Genomes Global Study-wide 5008 (T)23=0.7410 del(T)4=0.2590
1000Genomes African Sub 1322 (T)23=0.5552 del(T)4=0.4448
1000Genomes East Asian Sub 1008 (T)23=0.8165 del(T)4=0.1835
1000Genomes Europe Sub 1006 (T)23=0.8231 del(T)4=0.1769
1000Genomes South Asian Sub 978 (T)23=0.780 del(T)4=0.220
1000Genomes American Sub 694 (T)23=0.811 del(T)4=0.189
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 8 NC_000008.11:g.58040948_58040958del
GRCh38.p14 chr 8 NC_000008.11:g.58040949_58040958del
GRCh38.p14 chr 8 NC_000008.11:g.58040951_58040958del
GRCh38.p14 chr 8 NC_000008.11:g.58040952_58040958del
GRCh38.p14 chr 8 NC_000008.11:g.58040953_58040958del
GRCh38.p14 chr 8 NC_000008.11:g.58040954_58040958del
GRCh38.p14 chr 8 NC_000008.11:g.58040955_58040958del
GRCh38.p14 chr 8 NC_000008.11:g.58040956_58040958del
GRCh38.p14 chr 8 NC_000008.11:g.58040957_58040958del
GRCh38.p14 chr 8 NC_000008.11:g.58040958del
GRCh38.p14 chr 8 NC_000008.11:g.58040958dup
GRCh38.p14 chr 8 NC_000008.11:g.58040957_58040958dup
GRCh38.p14 chr 8 NC_000008.11:g.58040956_58040958dup
GRCh38.p14 chr 8 NC_000008.11:g.58040955_58040958dup
GRCh38.p14 chr 8 NC_000008.11:g.58040954_58040958dup
GRCh38.p14 chr 8 NC_000008.11:g.58040953_58040958dup
GRCh38.p14 chr 8 NC_000008.11:g.58040952_58040958dup
GRCh38.p14 chr 8 NC_000008.11:g.58040951_58040958dup
GRCh38.p14 chr 8 NC_000008.11:g.58040950_58040958dup
GRCh38.p14 chr 8 NC_000008.11:g.58040958_58040959insTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 8 NC_000008.11:g.58040958_58040959insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 8 NC_000008.11:g.58040958_58040959insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 8 NC_000008.11:g.58040958_58040959insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 8 NC_000008.11:g.58040958_58040959insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 8 NC_000008.11:g.58040958_58040959insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 8 NC_000008.10:g.58953507_58953517del
GRCh37.p13 chr 8 NC_000008.10:g.58953508_58953517del
GRCh37.p13 chr 8 NC_000008.10:g.58953510_58953517del
GRCh37.p13 chr 8 NC_000008.10:g.58953511_58953517del
GRCh37.p13 chr 8 NC_000008.10:g.58953512_58953517del
GRCh37.p13 chr 8 NC_000008.10:g.58953513_58953517del
GRCh37.p13 chr 8 NC_000008.10:g.58953514_58953517del
GRCh37.p13 chr 8 NC_000008.10:g.58953515_58953517del
GRCh37.p13 chr 8 NC_000008.10:g.58953516_58953517del
GRCh37.p13 chr 8 NC_000008.10:g.58953517del
GRCh37.p13 chr 8 NC_000008.10:g.58953517dup
GRCh37.p13 chr 8 NC_000008.10:g.58953516_58953517dup
GRCh37.p13 chr 8 NC_000008.10:g.58953515_58953517dup
GRCh37.p13 chr 8 NC_000008.10:g.58953514_58953517dup
GRCh37.p13 chr 8 NC_000008.10:g.58953513_58953517dup
GRCh37.p13 chr 8 NC_000008.10:g.58953512_58953517dup
GRCh37.p13 chr 8 NC_000008.10:g.58953511_58953517dup
GRCh37.p13 chr 8 NC_000008.10:g.58953510_58953517dup
GRCh37.p13 chr 8 NC_000008.10:g.58953509_58953517dup
GRCh37.p13 chr 8 NC_000008.10:g.58953517_58953518insTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 8 NC_000008.10:g.58953517_58953518insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 8 NC_000008.10:g.58953517_58953518insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 8 NC_000008.10:g.58953517_58953518insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 8 NC_000008.10:g.58953517_58953518insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 8 NC_000008.10:g.58953517_58953518insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene: FAM110B, family with sequence similarity 110 member B (plus strand)
Molecule type Change Amino acid[Codon] SO Term
FAM110B transcript variant 1 NM_001377989.1:c.-414+924…

NM_001377989.1:c.-414+9245_-414+9255del

N/A Intron Variant
FAM110B transcript variant 2 NM_147189.4:c.-529-2236_-…

NM_147189.4:c.-529-2236_-529-2226del

N/A Intron Variant
FAM110B transcript variant 3 NM_001377997.1:c. N/A Genic Upstream Transcript Variant
FAM110B transcript variant 4 NM_001377998.1:c. N/A Genic Upstream Transcript Variant
FAM110B transcript variant X1 XM_017013948.2:c.-414+924…

XM_017013948.2:c.-414+9245_-414+9255del

N/A Intron Variant
FAM110B transcript variant X2 XM_047422400.1:c.-529-223…

XM_047422400.1:c.-529-2236_-529-2226del

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 (T)23= del(T)11 del(T)10 del(T)8 del(T)7 del(T)6 del(T)5 del(T)4 delTTT delTT delT dupT dupTT dupTTT dup(T)4 dup(T)5 dup(T)6 dup(T)7 dup(T)8 dup(T)9 ins(T)27 ins(T)28 ins(T)33 ins(T)34 ins(T)35 ins(T)39
GRCh38.p14 chr 8 NC_000008.11:g.58040936_58040958= NC_000008.11:g.58040948_58040958del NC_000008.11:g.58040949_58040958del NC_000008.11:g.58040951_58040958del NC_000008.11:g.58040952_58040958del NC_000008.11:g.58040953_58040958del NC_000008.11:g.58040954_58040958del NC_000008.11:g.58040955_58040958del NC_000008.11:g.58040956_58040958del NC_000008.11:g.58040957_58040958del NC_000008.11:g.58040958del NC_000008.11:g.58040958dup NC_000008.11:g.58040957_58040958dup NC_000008.11:g.58040956_58040958dup NC_000008.11:g.58040955_58040958dup NC_000008.11:g.58040954_58040958dup NC_000008.11:g.58040953_58040958dup NC_000008.11:g.58040952_58040958dup NC_000008.11:g.58040951_58040958dup NC_000008.11:g.58040950_58040958dup NC_000008.11:g.58040958_58040959insTTTTTTTTTTTTTTTTTTTTTTTTTTT NC_000008.11:g.58040958_58040959insTTTTTTTTTTTTTTTTTTTTTTTTTTTT NC_000008.11:g.58040958_58040959insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NC_000008.11:g.58040958_58040959insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NC_000008.11:g.58040958_58040959insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NC_000008.11:g.58040958_58040959insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 8 NC_000008.10:g.58953495_58953517= NC_000008.10:g.58953507_58953517del NC_000008.10:g.58953508_58953517del NC_000008.10:g.58953510_58953517del NC_000008.10:g.58953511_58953517del NC_000008.10:g.58953512_58953517del NC_000008.10:g.58953513_58953517del NC_000008.10:g.58953514_58953517del NC_000008.10:g.58953515_58953517del NC_000008.10:g.58953516_58953517del NC_000008.10:g.58953517del NC_000008.10:g.58953517dup NC_000008.10:g.58953516_58953517dup NC_000008.10:g.58953515_58953517dup NC_000008.10:g.58953514_58953517dup NC_000008.10:g.58953513_58953517dup NC_000008.10:g.58953512_58953517dup NC_000008.10:g.58953511_58953517dup NC_000008.10:g.58953510_58953517dup NC_000008.10:g.58953509_58953517dup NC_000008.10:g.58953517_58953518insTTTTTTTTTTTTTTTTTTTTTTTTTTT NC_000008.10:g.58953517_58953518insTTTTTTTTTTTTTTTTTTTTTTTTTTTT NC_000008.10:g.58953517_58953518insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NC_000008.10:g.58953517_58953518insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NC_000008.10:g.58953517_58953518insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NC_000008.10:g.58953517_58953518insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
FAM110B transcript variant 1 NM_001377989.1:c.-414+9233= NM_001377989.1:c.-414+9245_-414+9255del NM_001377989.1:c.-414+9246_-414+9255del NM_001377989.1:c.-414+9248_-414+9255del NM_001377989.1:c.-414+9249_-414+9255del NM_001377989.1:c.-414+9250_-414+9255del NM_001377989.1:c.-414+9251_-414+9255del NM_001377989.1:c.-414+9252_-414+9255del NM_001377989.1:c.-414+9253_-414+9255del NM_001377989.1:c.-414+9254_-414+9255del NM_001377989.1:c.-414+9255del NM_001377989.1:c.-414+9255dup NM_001377989.1:c.-414+9254_-414+9255dup NM_001377989.1:c.-414+9253_-414+9255dup NM_001377989.1:c.-414+9252_-414+9255dup NM_001377989.1:c.-414+9251_-414+9255dup NM_001377989.1:c.-414+9250_-414+9255dup NM_001377989.1:c.-414+9249_-414+9255dup NM_001377989.1:c.-414+9248_-414+9255dup NM_001377989.1:c.-414+9247_-414+9255dup NM_001377989.1:c.-414+9255_-414+9256insTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001377989.1:c.-414+9255_-414+9256insTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001377989.1:c.-414+9255_-414+9256insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001377989.1:c.-414+9255_-414+9256insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001377989.1:c.-414+9255_-414+9256insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001377989.1:c.-414+9255_-414+9256insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
FAM110B transcript NM_147189.2:c.-529-2248= NM_147189.2:c.-529-2236_-529-2226del NM_147189.2:c.-529-2235_-529-2226del NM_147189.2:c.-529-2233_-529-2226del NM_147189.2:c.-529-2232_-529-2226del NM_147189.2:c.-529-2231_-529-2226del NM_147189.2:c.-529-2230_-529-2226del NM_147189.2:c.-529-2229_-529-2226del NM_147189.2:c.-529-2228_-529-2226del NM_147189.2:c.-529-2227_-529-2226del NM_147189.2:c.-529-2226del NM_147189.2:c.-529-2226dup NM_147189.2:c.-529-2227_-529-2226dup NM_147189.2:c.-529-2228_-529-2226dup NM_147189.2:c.-529-2229_-529-2226dup NM_147189.2:c.-529-2230_-529-2226dup NM_147189.2:c.-529-2231_-529-2226dup NM_147189.2:c.-529-2232_-529-2226dup NM_147189.2:c.-529-2233_-529-2226dup NM_147189.2:c.-529-2234_-529-2226dup NM_147189.2:c.-529-2226_-529-2225insTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_147189.2:c.-529-2226_-529-2225insTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_147189.2:c.-529-2226_-529-2225insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_147189.2:c.-529-2226_-529-2225insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_147189.2:c.-529-2226_-529-2225insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_147189.2:c.-529-2226_-529-2225insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
FAM110B transcript variant 2 NM_147189.4:c.-529-2248= NM_147189.4:c.-529-2236_-529-2226del NM_147189.4:c.-529-2235_-529-2226del NM_147189.4:c.-529-2233_-529-2226del NM_147189.4:c.-529-2232_-529-2226del NM_147189.4:c.-529-2231_-529-2226del NM_147189.4:c.-529-2230_-529-2226del NM_147189.4:c.-529-2229_-529-2226del NM_147189.4:c.-529-2228_-529-2226del NM_147189.4:c.-529-2227_-529-2226del NM_147189.4:c.-529-2226del NM_147189.4:c.-529-2226dup NM_147189.4:c.-529-2227_-529-2226dup NM_147189.4:c.-529-2228_-529-2226dup NM_147189.4:c.-529-2229_-529-2226dup NM_147189.4:c.-529-2230_-529-2226dup NM_147189.4:c.-529-2231_-529-2226dup NM_147189.4:c.-529-2232_-529-2226dup NM_147189.4:c.-529-2233_-529-2226dup NM_147189.4:c.-529-2234_-529-2226dup NM_147189.4:c.-529-2226_-529-2225insTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_147189.4:c.-529-2226_-529-2225insTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_147189.4:c.-529-2226_-529-2225insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_147189.4:c.-529-2226_-529-2225insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_147189.4:c.-529-2226_-529-2225insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_147189.4:c.-529-2226_-529-2225insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
FAM110B transcript variant X1 XM_005251324.1:c.-414+9233= XM_005251324.1:c.-414+9245_-414+9255del XM_005251324.1:c.-414+9246_-414+9255del XM_005251324.1:c.-414+9248_-414+9255del XM_005251324.1:c.-414+9249_-414+9255del XM_005251324.1:c.-414+9250_-414+9255del XM_005251324.1:c.-414+9251_-414+9255del XM_005251324.1:c.-414+9252_-414+9255del XM_005251324.1:c.-414+9253_-414+9255del XM_005251324.1:c.-414+9254_-414+9255del XM_005251324.1:c.-414+9255del XM_005251324.1:c.-414+9255dup XM_005251324.1:c.-414+9254_-414+9255dup XM_005251324.1:c.-414+9253_-414+9255dup XM_005251324.1:c.-414+9252_-414+9255dup XM_005251324.1:c.-414+9251_-414+9255dup XM_005251324.1:c.-414+9250_-414+9255dup XM_005251324.1:c.-414+9249_-414+9255dup XM_005251324.1:c.-414+9248_-414+9255dup XM_005251324.1:c.-414+9247_-414+9255dup XM_005251324.1:c.-414+9255_-414+9256insTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005251324.1:c.-414+9255_-414+9256insTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005251324.1:c.-414+9255_-414+9256insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005251324.1:c.-414+9255_-414+9256insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005251324.1:c.-414+9255_-414+9256insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005251324.1:c.-414+9255_-414+9256insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
FAM110B transcript variant X1 XM_017013948.2:c.-414+9233= XM_017013948.2:c.-414+9245_-414+9255del XM_017013948.2:c.-414+9246_-414+9255del XM_017013948.2:c.-414+9248_-414+9255del XM_017013948.2:c.-414+9249_-414+9255del XM_017013948.2:c.-414+9250_-414+9255del XM_017013948.2:c.-414+9251_-414+9255del XM_017013948.2:c.-414+9252_-414+9255del XM_017013948.2:c.-414+9253_-414+9255del XM_017013948.2:c.-414+9254_-414+9255del XM_017013948.2:c.-414+9255del XM_017013948.2:c.-414+9255dup XM_017013948.2:c.-414+9254_-414+9255dup XM_017013948.2:c.-414+9253_-414+9255dup XM_017013948.2:c.-414+9252_-414+9255dup XM_017013948.2:c.-414+9251_-414+9255dup XM_017013948.2:c.-414+9250_-414+9255dup XM_017013948.2:c.-414+9249_-414+9255dup XM_017013948.2:c.-414+9248_-414+9255dup XM_017013948.2:c.-414+9247_-414+9255dup XM_017013948.2:c.-414+9255_-414+9256insTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_017013948.2:c.-414+9255_-414+9256insTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_017013948.2:c.-414+9255_-414+9256insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_017013948.2:c.-414+9255_-414+9256insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_017013948.2:c.-414+9255_-414+9256insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_017013948.2:c.-414+9255_-414+9256insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
FAM110B transcript variant X2 XM_047422400.1:c.-529-2248= XM_047422400.1:c.-529-2236_-529-2226del XM_047422400.1:c.-529-2235_-529-2226del XM_047422400.1:c.-529-2233_-529-2226del XM_047422400.1:c.-529-2232_-529-2226del XM_047422400.1:c.-529-2231_-529-2226del XM_047422400.1:c.-529-2230_-529-2226del XM_047422400.1:c.-529-2229_-529-2226del XM_047422400.1:c.-529-2228_-529-2226del XM_047422400.1:c.-529-2227_-529-2226del XM_047422400.1:c.-529-2226del XM_047422400.1:c.-529-2226dup XM_047422400.1:c.-529-2227_-529-2226dup XM_047422400.1:c.-529-2228_-529-2226dup XM_047422400.1:c.-529-2229_-529-2226dup XM_047422400.1:c.-529-2230_-529-2226dup XM_047422400.1:c.-529-2231_-529-2226dup XM_047422400.1:c.-529-2232_-529-2226dup XM_047422400.1:c.-529-2233_-529-2226dup XM_047422400.1:c.-529-2234_-529-2226dup XM_047422400.1:c.-529-2226_-529-2225insTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_047422400.1:c.-529-2226_-529-2225insTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_047422400.1:c.-529-2226_-529-2225insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_047422400.1:c.-529-2226_-529-2225insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_047422400.1:c.-529-2226_-529-2225insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_047422400.1:c.-529-2226_-529-2225insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
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#.

69 SubSNP, 38 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGSV ss79829237 Dec 15, 2007 (136)
2 HGSV ss80122549 Aug 21, 2014 (142)
3 HGSV ss80137429 Aug 21, 2014 (142)
4 HGSV ss82817744 Aug 21, 2014 (142)
5 HUMANGENOME_JCVI ss98026910 Feb 13, 2009 (130)
6 PJP ss295382467 May 09, 2011 (134)
7 SSMP ss663862263 Apr 01, 2015 (144)
8 BILGI_BIOE ss666438691 Apr 25, 2013 (138)
9 1000GENOMES ss1367946158 Aug 21, 2014 (142)
10 EVA_UK10K_ALSPAC ss1706066358 Jan 10, 2018 (151)
11 EVA_UK10K_TWINSUK ss1706066384 Jan 10, 2018 (151)
12 EVA_UK10K_TWINSUK ss1710382473 Apr 01, 2015 (144)
13 EVA_UK10K_ALSPAC ss1710382569 Apr 01, 2015 (144)
14 SWEGEN ss3003240551 Nov 08, 2017 (151)
15 MCHAISSO ss3065188078 Nov 08, 2017 (151)
16 EVA_DECODE ss3722087567 Jul 13, 2019 (153)
17 EVA_DECODE ss3722087568 Jul 13, 2019 (153)
18 EVA_DECODE ss3722087569 Jul 13, 2019 (153)
19 EVA_DECODE ss3722087570 Jul 13, 2019 (153)
20 EVA_DECODE ss3722087571 Jul 13, 2019 (153)
21 EVA_DECODE ss3722087572 Jul 13, 2019 (153)
22 KHV_HUMAN_GENOMES ss3811202725 Jul 13, 2019 (153)
23 EVA ss3831182125 Apr 26, 2020 (154)
24 GNOMAD ss4185023741 Apr 26, 2021 (155)
25 GNOMAD ss4185023742 Apr 26, 2021 (155)
26 GNOMAD ss4185023743 Apr 26, 2021 (155)
27 GNOMAD ss4185023744 Apr 26, 2021 (155)
28 GNOMAD ss4185023745 Apr 26, 2021 (155)
29 GNOMAD ss4185023746 Apr 26, 2021 (155)
30 GNOMAD ss4185023747 Apr 26, 2021 (155)
31 GNOMAD ss4185023748 Apr 26, 2021 (155)
32 GNOMAD ss4185023749 Apr 26, 2021 (155)
33 GNOMAD ss4185023750 Apr 26, 2021 (155)
34 GNOMAD ss4185023751 Apr 26, 2021 (155)
35 GNOMAD ss4185023752 Apr 26, 2021 (155)
36 GNOMAD ss4185023753 Apr 26, 2021 (155)
37 GNOMAD ss4185023754 Apr 26, 2021 (155)
38 GNOMAD ss4185023755 Apr 26, 2021 (155)
39 GNOMAD ss4185023757 Apr 26, 2021 (155)
40 GNOMAD ss4185023758 Apr 26, 2021 (155)
41 GNOMAD ss4185023759 Apr 26, 2021 (155)
42 GNOMAD ss4185023760 Apr 26, 2021 (155)
43 GNOMAD ss4185023761 Apr 26, 2021 (155)
44 GNOMAD ss4185023762 Apr 26, 2021 (155)
45 GNOMAD ss4185023763 Apr 26, 2021 (155)
46 TOMMO_GENOMICS ss5188873510 Apr 26, 2021 (155)
47 TOMMO_GENOMICS ss5188873511 Apr 26, 2021 (155)
48 TOMMO_GENOMICS ss5188873512 Apr 26, 2021 (155)
49 TOMMO_GENOMICS ss5188873513 Apr 26, 2021 (155)
50 1000G_HIGH_COVERAGE ss5277270752 Oct 17, 2022 (156)
51 1000G_HIGH_COVERAGE ss5277270753 Oct 17, 2022 (156)
52 1000G_HIGH_COVERAGE ss5277270754 Oct 17, 2022 (156)
53 1000G_HIGH_COVERAGE ss5277270755 Oct 17, 2022 (156)
54 1000G_HIGH_COVERAGE ss5277270756 Oct 17, 2022 (156)
55 1000G_HIGH_COVERAGE ss5277270757 Oct 17, 2022 (156)
56 HUGCELL_USP ss5473824179 Oct 17, 2022 (156)
57 HUGCELL_USP ss5473824180 Oct 17, 2022 (156)
58 HUGCELL_USP ss5473824181 Oct 17, 2022 (156)
59 HUGCELL_USP ss5473824182 Oct 17, 2022 (156)
60 HUGCELL_USP ss5473824183 Oct 17, 2022 (156)
61 HUGCELL_USP ss5473824184 Oct 17, 2022 (156)
62 TOMMO_GENOMICS ss5730986287 Oct 17, 2022 (156)
63 TOMMO_GENOMICS ss5730986288 Oct 17, 2022 (156)
64 TOMMO_GENOMICS ss5730986289 Oct 17, 2022 (156)
65 TOMMO_GENOMICS ss5730986290 Oct 17, 2022 (156)
66 TOMMO_GENOMICS ss5730986291 Oct 17, 2022 (156)
67 TOMMO_GENOMICS ss5730986292 Oct 17, 2022 (156)
68 EVA ss5830583990 Oct 17, 2022 (156)
69 EVA ss5830583991 Oct 17, 2022 (156)
70 1000Genomes NC_000008.10 - 58953495 Oct 12, 2018 (152)
71 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 23430078 (NC_000008.10:58953494::TT 1703/3854)
Row 23430079 (NC_000008.10:58953494:TT: 850/3854)

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

Submission ignored due to conflicting rows:
Row 23430078 (NC_000008.10:58953494::TT 1703/3854)
Row 23430079 (NC_000008.10:58953494:TT: 850/3854)

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

Submission ignored due to conflicting rows:
Row 297085584 (NC_000008.11:58040935::T 28079/90842)
Row 297085585 (NC_000008.11:58040935::TT 1557/90614)
Row 297085586 (NC_000008.11:58040935::TTT 307/90730)...

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

Submission ignored due to conflicting rows:
Row 297085584 (NC_000008.11:58040935::T 28079/90842)
Row 297085585 (NC_000008.11:58040935::TT 1557/90614)
Row 297085586 (NC_000008.11:58040935::TTT 307/90730)...

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

Submission ignored due to conflicting rows:
Row 297085584 (NC_000008.11:58040935::T 28079/90842)
Row 297085585 (NC_000008.11:58040935::TT 1557/90614)
Row 297085586 (NC_000008.11:58040935::TTT 307/90730)...

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

Submission ignored due to conflicting rows:
Row 297085584 (NC_000008.11:58040935::T 28079/90842)
Row 297085585 (NC_000008.11:58040935::TT 1557/90614)
Row 297085586 (NC_000008.11:58040935::TTT 307/90730)...

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

Submission ignored due to conflicting rows:
Row 297085584 (NC_000008.11:58040935::T 28079/90842)
Row 297085585 (NC_000008.11:58040935::TT 1557/90614)
Row 297085586 (NC_000008.11:58040935::TTT 307/90730)...

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

Submission ignored due to conflicting rows:
Row 297085584 (NC_000008.11:58040935::T 28079/90842)
Row 297085585 (NC_000008.11:58040935::TT 1557/90614)
Row 297085586 (NC_000008.11:58040935::TTT 307/90730)...

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

Submission ignored due to conflicting rows:
Row 297085584 (NC_000008.11:58040935::T 28079/90842)
Row 297085585 (NC_000008.11:58040935::TT 1557/90614)
Row 297085586 (NC_000008.11:58040935::TTT 307/90730)...

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

Submission ignored due to conflicting rows:
Row 297085584 (NC_000008.11:58040935::T 28079/90842)
Row 297085585 (NC_000008.11:58040935::TT 1557/90614)
Row 297085586 (NC_000008.11:58040935::TTT 307/90730)...

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

Submission ignored due to conflicting rows:
Row 297085584 (NC_000008.11:58040935::T 28079/90842)
Row 297085585 (NC_000008.11:58040935::TT 1557/90614)
Row 297085586 (NC_000008.11:58040935::TTT 307/90730)...

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

Submission ignored due to conflicting rows:
Row 297085584 (NC_000008.11:58040935::T 28079/90842)
Row 297085585 (NC_000008.11:58040935::TT 1557/90614)
Row 297085586 (NC_000008.11:58040935::TTT 307/90730)...

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

Submission ignored due to conflicting rows:
Row 297085584 (NC_000008.11:58040935::T 28079/90842)
Row 297085585 (NC_000008.11:58040935::TT 1557/90614)
Row 297085586 (NC_000008.11:58040935::TTT 307/90730)...

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

Submission ignored due to conflicting rows:
Row 297085584 (NC_000008.11:58040935::T 28079/90842)
Row 297085585 (NC_000008.11:58040935::TT 1557/90614)
Row 297085586 (NC_000008.11:58040935::TTT 307/90730)...

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

Submission ignored due to conflicting rows:
Row 297085584 (NC_000008.11:58040935::T 28079/90842)
Row 297085585 (NC_000008.11:58040935::TT 1557/90614)
Row 297085586 (NC_000008.11:58040935::TTT 307/90730)...

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

Submission ignored due to conflicting rows:
Row 297085584 (NC_000008.11:58040935::T 28079/90842)
Row 297085585 (NC_000008.11:58040935::TT 1557/90614)
Row 297085586 (NC_000008.11:58040935::TTT 307/90730)...

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

Submission ignored due to conflicting rows:
Row 297085584 (NC_000008.11:58040935::T 28079/90842)
Row 297085585 (NC_000008.11:58040935::TT 1557/90614)
Row 297085586 (NC_000008.11:58040935::TTT 307/90730)...

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

Submission ignored due to conflicting rows:
Row 297085584 (NC_000008.11:58040935::T 28079/90842)
Row 297085585 (NC_000008.11:58040935::TT 1557/90614)
Row 297085586 (NC_000008.11:58040935::TTT 307/90730)...

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

Submission ignored due to conflicting rows:
Row 297085584 (NC_000008.11:58040935::T 28079/90842)
Row 297085585 (NC_000008.11:58040935::TT 1557/90614)
Row 297085586 (NC_000008.11:58040935::TTT 307/90730)...

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

Submission ignored due to conflicting rows:
Row 297085584 (NC_000008.11:58040935::T 28079/90842)
Row 297085585 (NC_000008.11:58040935::TT 1557/90614)
Row 297085586 (NC_000008.11:58040935::TTT 307/90730)...

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

Submission ignored due to conflicting rows:
Row 297085584 (NC_000008.11:58040935::T 28079/90842)
Row 297085585 (NC_000008.11:58040935::TT 1557/90614)
Row 297085586 (NC_000008.11:58040935::TTT 307/90730)...

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

Submission ignored due to conflicting rows:
Row 297085584 (NC_000008.11:58040935::T 28079/90842)
Row 297085585 (NC_000008.11:58040935::TT 1557/90614)
Row 297085586 (NC_000008.11:58040935::TTT 307/90730)...

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

Submission ignored due to conflicting rows:
Row 297085584 (NC_000008.11:58040935::T 28079/90842)
Row 297085585 (NC_000008.11:58040935::TT 1557/90614)
Row 297085586 (NC_000008.11:58040935::TTT 307/90730)...

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

Submission ignored due to conflicting rows:
Row 297085584 (NC_000008.11:58040935::T 28079/90842)
Row 297085585 (NC_000008.11:58040935::TT 1557/90614)
Row 297085586 (NC_000008.11:58040935::TTT 307/90730)...

- Apr 26, 2021 (155)
95 8.3KJPN

Submission ignored due to conflicting rows:
Row 46842817 (NC_000008.10:58953494:TTTT: 2052/16620)
Row 46842818 (NC_000008.10:58953494::T 4452/16620)
Row 46842819 (NC_000008.10:58953494:TT: 540/16620)...

- Apr 26, 2021 (155)
96 8.3KJPN

Submission ignored due to conflicting rows:
Row 46842817 (NC_000008.10:58953494:TTTT: 2052/16620)
Row 46842818 (NC_000008.10:58953494::T 4452/16620)
Row 46842819 (NC_000008.10:58953494:TT: 540/16620)...

- Apr 26, 2021 (155)
97 8.3KJPN

Submission ignored due to conflicting rows:
Row 46842817 (NC_000008.10:58953494:TTTT: 2052/16620)
Row 46842818 (NC_000008.10:58953494::T 4452/16620)
Row 46842819 (NC_000008.10:58953494:TT: 540/16620)...

- Apr 26, 2021 (155)
98 8.3KJPN

Submission ignored due to conflicting rows:
Row 46842817 (NC_000008.10:58953494:TTTT: 2052/16620)
Row 46842818 (NC_000008.10:58953494::T 4452/16620)
Row 46842819 (NC_000008.10:58953494:TT: 540/16620)...

- Apr 26, 2021 (155)
99 14KJPN

Submission ignored due to conflicting rows:
Row 64823391 (NC_000008.11:58040935::T 7829/28230)
Row 64823392 (NC_000008.11:58040935:TTTT: 3761/28230)
Row 64823393 (NC_000008.11:58040935:TT: 1021/28230)...

- Oct 17, 2022 (156)
100 14KJPN

Submission ignored due to conflicting rows:
Row 64823391 (NC_000008.11:58040935::T 7829/28230)
Row 64823392 (NC_000008.11:58040935:TTTT: 3761/28230)
Row 64823393 (NC_000008.11:58040935:TT: 1021/28230)...

- Oct 17, 2022 (156)
101 14KJPN

Submission ignored due to conflicting rows:
Row 64823391 (NC_000008.11:58040935::T 7829/28230)
Row 64823392 (NC_000008.11:58040935:TTTT: 3761/28230)
Row 64823393 (NC_000008.11:58040935:TT: 1021/28230)...

- Oct 17, 2022 (156)
102 14KJPN

Submission ignored due to conflicting rows:
Row 64823391 (NC_000008.11:58040935::T 7829/28230)
Row 64823392 (NC_000008.11:58040935:TTTT: 3761/28230)
Row 64823393 (NC_000008.11:58040935:TT: 1021/28230)...

- Oct 17, 2022 (156)
103 14KJPN

Submission ignored due to conflicting rows:
Row 64823391 (NC_000008.11:58040935::T 7829/28230)
Row 64823392 (NC_000008.11:58040935:TTTT: 3761/28230)
Row 64823393 (NC_000008.11:58040935:TT: 1021/28230)...

- Oct 17, 2022 (156)
104 14KJPN

Submission ignored due to conflicting rows:
Row 64823391 (NC_000008.11:58040935::T 7829/28230)
Row 64823392 (NC_000008.11:58040935:TTTT: 3761/28230)
Row 64823393 (NC_000008.11:58040935:TT: 1021/28230)...

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

Submission ignored due to conflicting rows:
Row 23430078 (NC_000008.10:58953494::TT 1581/3708)
Row 23430079 (NC_000008.10:58953494:TT: 793/3708)

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

Submission ignored due to conflicting rows:
Row 23430078 (NC_000008.10:58953494::TT 1581/3708)
Row 23430079 (NC_000008.10:58953494:TT: 793/3708)

- Oct 12, 2018 (152)
107 ALFA NC_000008.11 - 58040936 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)
rs371937534 May 15, 2013 (138)
rs72442927 May 11, 2012 (137)
rs796196887 Nov 08, 2017 (151)
rs60436742 Oct 15, 2011 (136)
rs60742460 Oct 15, 2011 (136)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4185023763 NC_000008.11:58040935:TTTTTTTTTTT: NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT

(self)
5660607976 NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

(self)
5660607976 NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss4185023762 NC_000008.11:58040935:TTTTTTT: NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
5660607976 NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss4185023761 NC_000008.11:58040935:TTTTT: NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
5660607976 NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss82817744 NC_000008.9:59116067:TTTT: NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
42131967, ss1367946158, ss3003240551, ss3831182125, ss5188873510 NC_000008.10:58953494:TTTT: NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
ss3065188078, ss3722087567, ss3811202725, ss4185023760, ss5277270752, ss5473824183, ss5730986288 NC_000008.11:58040935:TTTT: NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
5660607976 NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
ss4185023759, ss5277270757, ss5473824184 NC_000008.11:58040935:TTT: NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
5660607976 NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss3722087568 NC_000008.11:58040936:TTT: NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss79829237 NC_000008.9:59116069:TT: NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss1706066358, ss1706066384, ss5188873512, ss5830583991 NC_000008.10:58953494:TT: NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss4185023758, ss5277270755, ss5473824181, ss5730986289 NC_000008.11:58040935:TT: NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
5660607976 NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss3722087569 NC_000008.11:58040937:TT: NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss80122549, ss80137429 NC_000008.9:59116070:T: NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
ss4185023757, ss5277270756, ss5473824182, ss5730986291 NC_000008.11:58040935:T: NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
5660607976 NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
ss3722087570 NC_000008.11:58040938:T: NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
ss98026910 NT_008183.19:10817895:T: NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
ss295382467 NC_000008.9:59116049::T NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss663862263, ss666438691, ss5188873511 NC_000008.10:58953494::T NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4185023741, ss5277270753, ss5473824179, ss5730986287 NC_000008.11:58040935::T NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

(self)
5660607976 NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss3722087571 NC_000008.11:58040939::T NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss5188873513, ss5830583990 NC_000008.10:58953494::TT NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss1710382473, ss1710382569 NC_000008.10:58953496::TT NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4185023742, ss5277270754, ss5473824180, ss5730986290 NC_000008.11:58040935::TT NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
5660607976 NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss3722087572 NC_000008.11:58040939::TT NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4185023743, ss5730986292 NC_000008.11:58040935::TTT NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
5660607976 NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4185023744 NC_000008.11:58040935::TTTT NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4185023745 NC_000008.11:58040935::TTTTT NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4185023746 NC_000008.11:58040935::TTTTTT NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4185023747 NC_000008.11:58040935::TTTTTTT NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4185023748 NC_000008.11:58040935::TTTTTTTT NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4185023749 NC_000008.11:58040935::TTTTTTTTT NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4185023750 NC_000008.11:58040935::TTTTTTTTTTT…

NC_000008.11:58040935::TTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4185023751 NC_000008.11:58040935::TTTTTTTTTTT…

NC_000008.11:58040935::TTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4185023752 NC_000008.11:58040935::TTTTTTTTTTT…

NC_000008.11:58040935::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4185023753 NC_000008.11:58040935::TTTTTTTTTTT…

NC_000008.11:58040935::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4185023754 NC_000008.11:58040935::TTTTTTTTTTT…

NC_000008.11:58040935::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4185023755 NC_000008.11:58040935::TTTTTTTTTTT…

NC_000008.11:58040935::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000008.11:58040935:TTTTTTTTTTTT…

NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(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 rs60228265

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