Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs140066668

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr10:98459735 (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
C>A / C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.002478 (656/264690, TOPMED)
G=0.002603 (365/140240, GnomAD)
G=0.00100 (79/78698, PAGE_STUDY) (+ 13 more)
G=0.00311 (153/49260, ALFA)
G=0.00338 (44/13006, GO-ESP)
G=0.0017 (11/6404, 1000G_30x)
G=0.0014 (7/5008, 1000G)
G=0.0002 (1/4480, Estonian)
G=0.0021 (8/3854, ALSPAC)
G=0.0054 (20/3708, TWINSUK)
G=0.005 (5/998, GoNL)
G=0.005 (3/600, NorthernSweden)
G=0.007 (4/534, MGP)
G=0.010 (3/292, FINRISK)
C=0.5 (1/2, Siberian)
G=0.5 (1/2, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
HPSE2 : Missense 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 49260 C=0.99689 G=0.00311
European Sub 37246 C=0.99681 G=0.00319
African Sub 3560 C=1.0000 G=0.0000
African Others Sub 122 C=1.000 G=0.000
African American Sub 3438 C=1.0000 G=0.0000
Asian Sub 168 C=1.000 G=0.000
East Asian Sub 112 C=1.000 G=0.000
Other Asian Sub 56 C=1.00 G=0.00
Latin American 1 Sub 500 C=1.000 G=0.000
Latin American 2 Sub 628 C=1.000 G=0.000
South Asian Sub 98 C=0.98 G=0.02
Other Sub 7060 C=0.9955 G=0.0045


Help

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

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 C=0.997522 G=0.002478
gnomAD - Genomes Global Study-wide 140240 C=0.997397 G=0.002603
gnomAD - Genomes European Sub 75942 C=0.99585 G=0.00415
gnomAD - Genomes African Sub 42026 C=0.99950 G=0.00050
gnomAD - Genomes American Sub 13662 C=0.99883 G=0.00117
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=0.9976 G=0.0024
gnomAD - Genomes East Asian Sub 3134 C=0.9997 G=0.0003
gnomAD - Genomes Other Sub 2154 C=0.9981 G=0.0019
The PAGE Study Global Study-wide 78698 C=0.99900 G=0.00100
The PAGE Study AfricanAmerican Sub 32516 C=0.99969 G=0.00031
The PAGE Study Mexican Sub 10808 C=0.99759 G=0.00241
The PAGE Study Asian Sub 8318 C=1.0000 G=0.0000
The PAGE Study PuertoRican Sub 7918 C=0.9987 G=0.0013
The PAGE Study NativeHawaiian Sub 4532 C=0.9998 G=0.0002
The PAGE Study Cuban Sub 4230 C=0.9967 G=0.0033
The PAGE Study Dominican Sub 3828 C=0.9987 G=0.0013
The PAGE Study CentralAmerican Sub 2450 C=0.9971 G=0.0029
The PAGE Study SouthAmerican Sub 1982 C=0.9985 G=0.0015
The PAGE Study NativeAmerican Sub 1260 C=0.9992 G=0.0008
The PAGE Study SouthAsian Sub 856 C=0.998 G=0.002
Allele Frequency Aggregator Total Global 49260 C=0.99689 G=0.00311
Allele Frequency Aggregator European Sub 37246 C=0.99681 G=0.00319
Allele Frequency Aggregator Other Sub 7060 C=0.9955 G=0.0045
Allele Frequency Aggregator African Sub 3560 C=1.0000 G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 628 C=1.000 G=0.000
Allele Frequency Aggregator Latin American 1 Sub 500 C=1.000 G=0.000
Allele Frequency Aggregator Asian Sub 168 C=1.000 G=0.000
Allele Frequency Aggregator South Asian Sub 98 C=0.98 G=0.02
GO Exome Sequencing Project Global Study-wide 13006 C=0.99662 G=0.00338
GO Exome Sequencing Project European American Sub 8600 C=0.9950 G=0.0050
GO Exome Sequencing Project African American Sub 4406 C=0.9998 G=0.0002
1000Genomes_30x Global Study-wide 6404 C=0.9983 G=0.0017
1000Genomes_30x African Sub 1786 C=1.0000 G=0.0000
1000Genomes_30x Europe Sub 1266 C=0.9961 G=0.0039
1000Genomes_30x South Asian Sub 1202 C=0.9992 G=0.0008
1000Genomes_30x East Asian Sub 1170 C=1.0000 G=0.0000
1000Genomes_30x American Sub 980 C=0.995 G=0.005
1000Genomes Global Study-wide 5008 C=0.9986 G=0.0014
1000Genomes African Sub 1322 C=1.0000 G=0.0000
1000Genomes East Asian Sub 1008 C=1.0000 G=0.0000
1000Genomes Europe Sub 1006 C=0.9960 G=0.0040
1000Genomes South Asian Sub 978 C=0.999 G=0.001
1000Genomes American Sub 694 C=0.997 G=0.003
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.9998 G=0.0002
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9979 G=0.0021
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9946 G=0.0054
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.995 G=0.005
Northern Sweden ACPOP Study-wide 600 C=0.995 G=0.005
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.993 G=0.007
FINRISK Finnish from FINRISK project Study-wide 292 C=0.990 G=0.010
Siberian Global Study-wide 2 C=0.5 G=0.5
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 10 NC_000010.11:g.98459735C>A
GRCh38.p14 chr 10 NC_000010.11:g.98459735C>G
GRCh38.p14 chr 10 NC_000010.11:g.98459735C>T
GRCh37.p13 chr 10 NC_000010.10:g.100219492C>A
GRCh37.p13 chr 10 NC_000010.10:g.100219492C>G
GRCh37.p13 chr 10 NC_000010.10:g.100219492C>T
HPSE2 RefSeqGene NG_023416.1:g.781141G>T
HPSE2 RefSeqGene NG_023416.1:g.781141G>C
HPSE2 RefSeqGene NG_023416.1:g.781141G>A
Gene: HPSE2, heparanase 2 (inactive) (minus strand)
Molecule type Change Amino acid[Codon] SO Term
HPSE2 transcript variant 4 NM_001166246.1:c.*41= N/A 3 Prime UTR Variant
HPSE2 transcript variant 2 NM_001166244.1:c.1444G>T V [GTG] > L [TTG] Coding Sequence Variant
inactive heparanase-2 isoform 2 precursor NP_001159716.1:p.Val482Leu V (Val) > L (Leu) Missense Variant
HPSE2 transcript variant 2 NM_001166244.1:c.1444G>C V [GTG] > L [CTG] Coding Sequence Variant
inactive heparanase-2 isoform 2 precursor NP_001159716.1:p.Val482Leu V (Val) > L (Leu) Missense Variant
HPSE2 transcript variant 2 NM_001166244.1:c.1444G>A V [GTG] > M [ATG] Coding Sequence Variant
inactive heparanase-2 isoform 2 precursor NP_001159716.1:p.Val482Met V (Val) > M (Met) Missense Variant
HPSE2 transcript variant 3 NM_001166245.1:c.1282G>T V [GTG] > L [TTG] Coding Sequence Variant
inactive heparanase-2 isoform 3 precursor NP_001159717.1:p.Val428Leu V (Val) > L (Leu) Missense Variant
HPSE2 transcript variant 3 NM_001166245.1:c.1282G>C V [GTG] > L [CTG] Coding Sequence Variant
inactive heparanase-2 isoform 3 precursor NP_001159717.1:p.Val428Leu V (Val) > L (Leu) Missense Variant
HPSE2 transcript variant 3 NM_001166245.1:c.1282G>A V [GTG] > M [ATG] Coding Sequence Variant
inactive heparanase-2 isoform 3 precursor NP_001159717.1:p.Val428Met V (Val) > M (Met) Missense Variant
HPSE2 transcript variant 1 NM_021828.5:c.1618G>T V [GTG] > L [TTG] Coding Sequence Variant
inactive heparanase-2 isoform 1 precursor NP_068600.4:p.Val540Leu V (Val) > L (Leu) Missense Variant
HPSE2 transcript variant 1 NM_021828.5:c.1618G>C V [GTG] > L [CTG] Coding Sequence Variant
inactive heparanase-2 isoform 1 precursor NP_068600.4:p.Val540Leu V (Val) > L (Leu) Missense Variant
HPSE2 transcript variant 1 NM_021828.5:c.1618G>A V [GTG] > M [ATG] Coding Sequence Variant
inactive heparanase-2 isoform 1 precursor NP_068600.4:p.Val540Met V (Val) > M (Met) Missense Variant
HPSE2 transcript variant X3 XM_017016496.3:c. N/A Genic Downstream Transcript Variant
HPSE2 transcript variant X8 XM_047425615.1:c. N/A Genic Downstream Transcript Variant
HPSE2 transcript variant X1 XM_011540029.1:c.1471G>T V [GTG] > L [TTG] Coding Sequence Variant
inactive heparanase-2 isoform X1 XP_011538331.1:p.Val491Leu V (Val) > L (Leu) Missense Variant
HPSE2 transcript variant X1 XM_011540029.1:c.1471G>C V [GTG] > L [CTG] Coding Sequence Variant
inactive heparanase-2 isoform X1 XP_011538331.1:p.Val491Leu V (Val) > L (Leu) Missense Variant
HPSE2 transcript variant X1 XM_011540029.1:c.1471G>A V [GTG] > M [ATG] Coding Sequence Variant
inactive heparanase-2 isoform X1 XP_011538331.1:p.Val491Met V (Val) > M (Met) Missense Variant
HPSE2 transcript variant X6 XM_011540031.2:c.1102G>T V [GTG] > L [TTG] Coding Sequence Variant
inactive heparanase-2 isoform X4 XP_011538333.1:p.Val368Leu V (Val) > L (Leu) Missense Variant
HPSE2 transcript variant X6 XM_011540031.2:c.1102G>C V [GTG] > L [CTG] Coding Sequence Variant
inactive heparanase-2 isoform X4 XP_011538333.1:p.Val368Leu V (Val) > L (Leu) Missense Variant
HPSE2 transcript variant X6 XM_011540031.2:c.1102G>A V [GTG] > M [ATG] Coding Sequence Variant
inactive heparanase-2 isoform X4 XP_011538333.1:p.Val368Met V (Val) > M (Met) Missense Variant
HPSE2 transcript variant X2 XM_011540030.2:c.1456G>T V [GTG] > L [TTG] Coding Sequence Variant
inactive heparanase-2 isoform X2 XP_011538332.1:p.Val486Leu V (Val) > L (Leu) Missense Variant
HPSE2 transcript variant X2 XM_011540030.2:c.1456G>C V [GTG] > L [CTG] Coding Sequence Variant
inactive heparanase-2 isoform X2 XP_011538332.1:p.Val486Leu V (Val) > L (Leu) Missense Variant
HPSE2 transcript variant X2 XM_011540030.2:c.1456G>A V [GTG] > M [ATG] Coding Sequence Variant
inactive heparanase-2 isoform X2 XP_011538332.1:p.Val486Met V (Val) > M (Met) Missense Variant
HPSE2 transcript variant X4 XM_024448119.2:c.1102G>T V [GTG] > L [TTG] Coding Sequence Variant
inactive heparanase-2 isoform X4 XP_024303887.1:p.Val368Leu V (Val) > L (Leu) Missense Variant
HPSE2 transcript variant X4 XM_024448119.2:c.1102G>C V [GTG] > L [CTG] Coding Sequence Variant
inactive heparanase-2 isoform X4 XP_024303887.1:p.Val368Leu V (Val) > L (Leu) Missense Variant
HPSE2 transcript variant X4 XM_024448119.2:c.1102G>A V [GTG] > M [ATG] Coding Sequence Variant
inactive heparanase-2 isoform X4 XP_024303887.1:p.Val368Met V (Val) > M (Met) Missense Variant
HPSE2 transcript variant X5 XM_047425614.1:c.1102G>T V [GTG] > L [TTG] Coding Sequence Variant
inactive heparanase-2 isoform X4 XP_047281570.1:p.Val368Leu V (Val) > L (Leu) Missense Variant
HPSE2 transcript variant X5 XM_047425614.1:c.1102G>C V [GTG] > L [CTG] Coding Sequence Variant
inactive heparanase-2 isoform X4 XP_047281570.1:p.Val368Leu V (Val) > L (Leu) Missense Variant
HPSE2 transcript variant X5 XM_047425614.1:c.1102G>A V [GTG] > M [ATG] Coding Sequence Variant
inactive heparanase-2 isoform X4 XP_047281570.1:p.Val368Met V (Val) > M (Met) Missense Variant
HPSE2 transcript variant X7 XM_017016497.2:c.1102G>T V [GTG] > L [TTG] Coding Sequence Variant
inactive heparanase-2 isoform X4 XP_016871986.1:p.Val368Leu V (Val) > L (Leu) Missense Variant
HPSE2 transcript variant X7 XM_017016497.2:c.1102G>C V [GTG] > L [CTG] Coding Sequence Variant
inactive heparanase-2 isoform X4 XP_016871986.1:p.Val368Leu V (Val) > L (Leu) Missense Variant
HPSE2 transcript variant X7 XM_017016497.2:c.1102G>A V [GTG] > M [ATG] Coding Sequence Variant
inactive heparanase-2 isoform X4 XP_016871986.1:p.Val368Met V (Val) > M (Met) Missense Variant
HPSE2 transcript variant X9 XM_047425616.1:c.814G>T V [GTG] > L [TTG] Coding Sequence Variant
inactive heparanase-2 isoform X6 XP_047281572.1:p.Val272Leu V (Val) > L (Leu) Missense Variant
HPSE2 transcript variant X9 XM_047425616.1:c.814G>C V [GTG] > L [CTG] Coding Sequence Variant
inactive heparanase-2 isoform X6 XP_047281572.1:p.Val272Leu V (Val) > L (Leu) Missense Variant
HPSE2 transcript variant X9 XM_047425616.1:c.814G>A V [GTG] > M [ATG] Coding Sequence Variant
inactive heparanase-2 isoform X6 XP_047281572.1:p.Val272Met V (Val) > M (Met) Missense Variant
HPSE2 transcript variant X10 XM_017016498.2:c.814G>T V [GTG] > L [TTG] Coding Sequence Variant
inactive heparanase-2 isoform X6 XP_016871987.1:p.Val272Leu V (Val) > L (Leu) Missense Variant
HPSE2 transcript variant X10 XM_017016498.2:c.814G>C V [GTG] > L [CTG] Coding Sequence Variant
inactive heparanase-2 isoform X6 XP_016871987.1:p.Val272Leu V (Val) > L (Leu) Missense Variant
HPSE2 transcript variant X10 XM_017016498.2:c.814G>A V [GTG] > M [ATG] Coding Sequence Variant
inactive heparanase-2 isoform X6 XP_016871987.1:p.Val272Met V (Val) > M (Met) Missense 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.

Allele: G (allele ID: 724146 )
ClinVar Accession Disease Names Clinical Significance
RCV000888076.4 not provided Benign
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 C= A G T
GRCh38.p14 chr 10 NC_000010.11:g.98459735= NC_000010.11:g.98459735C>A NC_000010.11:g.98459735C>G NC_000010.11:g.98459735C>T
GRCh37.p13 chr 10 NC_000010.10:g.100219492= NC_000010.10:g.100219492C>A NC_000010.10:g.100219492C>G NC_000010.10:g.100219492C>T
HPSE2 RefSeqGene NG_023416.1:g.781141= NG_023416.1:g.781141G>T NG_023416.1:g.781141G>C NG_023416.1:g.781141G>A
HPSE2 transcript variant 1 NM_021828.5:c.1618= NM_021828.5:c.1618G>T NM_021828.5:c.1618G>C NM_021828.5:c.1618G>A
HPSE2 transcript variant 1 NM_021828.4:c.1618= NM_021828.4:c.1618G>T NM_021828.4:c.1618G>C NM_021828.4:c.1618G>A
HPSE2 transcript variant 4 NM_001166246.1:c.*41= NM_001166246.1:c.*41G>T NM_001166246.1:c.*41G>C NM_001166246.1:c.*41G>A
HPSE2 transcript variant 2 NM_001166244.1:c.1444= NM_001166244.1:c.1444G>T NM_001166244.1:c.1444G>C NM_001166244.1:c.1444G>A
HPSE2 transcript variant 3 NM_001166245.1:c.1282= NM_001166245.1:c.1282G>T NM_001166245.1:c.1282G>C NM_001166245.1:c.1282G>A
HPSE2 transcript variant X4 XM_024448119.2:c.1102= XM_024448119.2:c.1102G>T XM_024448119.2:c.1102G>C XM_024448119.2:c.1102G>A
HPSE2 transcript variant X6 XM_024448119.1:c.1102= XM_024448119.1:c.1102G>T XM_024448119.1:c.1102G>C XM_024448119.1:c.1102G>A
HPSE2 transcript variant X2 XM_011540030.2:c.1456= XM_011540030.2:c.1456G>T XM_011540030.2:c.1456G>C XM_011540030.2:c.1456G>A
HPSE2 transcript variant X3 XM_011540030.1:c.1456= XM_011540030.1:c.1456G>T XM_011540030.1:c.1456G>C XM_011540030.1:c.1456G>A
HPSE2 transcript variant X6 XM_011540031.2:c.1102= XM_011540031.2:c.1102G>T XM_011540031.2:c.1102G>C XM_011540031.2:c.1102G>A
HPSE2 transcript variant X5 XM_011540031.1:c.1102= XM_011540031.1:c.1102G>T XM_011540031.1:c.1102G>C XM_011540031.1:c.1102G>A
HPSE2 transcript variant X7 XM_017016497.2:c.1102= XM_017016497.2:c.1102G>T XM_017016497.2:c.1102G>C XM_017016497.2:c.1102G>A
HPSE2 transcript variant X8 XM_017016497.1:c.1102= XM_017016497.1:c.1102G>T XM_017016497.1:c.1102G>C XM_017016497.1:c.1102G>A
HPSE2 transcript variant X10 XM_017016498.2:c.814= XM_017016498.2:c.814G>T XM_017016498.2:c.814G>C XM_017016498.2:c.814G>A
HPSE2 transcript variant X11 XM_017016498.1:c.814= XM_017016498.1:c.814G>T XM_017016498.1:c.814G>C XM_017016498.1:c.814G>A
HPSE2 transcript variant X1 XM_011540029.1:c.1471= XM_011540029.1:c.1471G>T XM_011540029.1:c.1471G>C XM_011540029.1:c.1471G>A
HPSE2 transcript variant X5 XM_047425614.1:c.1102= XM_047425614.1:c.1102G>T XM_047425614.1:c.1102G>C XM_047425614.1:c.1102G>A
HPSE2 transcript variant X9 XM_047425616.1:c.814= XM_047425616.1:c.814G>T XM_047425616.1:c.814G>C XM_047425616.1:c.814G>A
inactive heparanase-2 isoform 1 precursor NP_068600.4:p.Val540= NP_068600.4:p.Val540Leu NP_068600.4:p.Val540Leu NP_068600.4:p.Val540Met
inactive heparanase-2 isoform 2 precursor NP_001159716.1:p.Val482= NP_001159716.1:p.Val482Leu NP_001159716.1:p.Val482Leu NP_001159716.1:p.Val482Met
inactive heparanase-2 isoform 3 precursor NP_001159717.1:p.Val428= NP_001159717.1:p.Val428Leu NP_001159717.1:p.Val428Leu NP_001159717.1:p.Val428Met
inactive heparanase-2 isoform X4 XP_024303887.1:p.Val368= XP_024303887.1:p.Val368Leu XP_024303887.1:p.Val368Leu XP_024303887.1:p.Val368Met
inactive heparanase-2 isoform X2 XP_011538332.1:p.Val486= XP_011538332.1:p.Val486Leu XP_011538332.1:p.Val486Leu XP_011538332.1:p.Val486Met
inactive heparanase-2 isoform X4 XP_011538333.1:p.Val368= XP_011538333.1:p.Val368Leu XP_011538333.1:p.Val368Leu XP_011538333.1:p.Val368Met
inactive heparanase-2 isoform X4 XP_016871986.1:p.Val368= XP_016871986.1:p.Val368Leu XP_016871986.1:p.Val368Leu XP_016871986.1:p.Val368Met
inactive heparanase-2 isoform X6 XP_016871987.1:p.Val272= XP_016871987.1:p.Val272Leu XP_016871987.1:p.Val272Leu XP_016871987.1:p.Val272Met
inactive heparanase-2 isoform X1 XP_011538331.1:p.Val491= XP_011538331.1:p.Val491Leu XP_011538331.1:p.Val491Leu XP_011538331.1:p.Val491Met
inactive heparanase-2 isoform X4 XP_047281570.1:p.Val368= XP_047281570.1:p.Val368Leu XP_047281570.1:p.Val368Leu XP_047281570.1:p.Val368Met
inactive heparanase-2 isoform X6 XP_047281572.1:p.Val272= XP_047281572.1:p.Val272Leu XP_047281572.1:p.Val272Leu XP_047281572.1:p.Val272Met
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, 20 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss336333094 May 09, 2011 (134)
2 NHLBI-ESP ss342305566 May 09, 2011 (134)
3 1000GENOMES ss491002784 May 04, 2012 (137)
4 EXOME_CHIP ss491439301 May 04, 2012 (137)
5 CLINSEQ_SNP ss491630871 May 04, 2012 (137)
6 ILLUMINA ss535884360 Sep 08, 2015 (146)
7 SSMP ss657220918 Apr 25, 2013 (138)
8 ILLUMINA ss783575874 Aug 21, 2014 (142)
9 EVA-GONL ss987832338 Aug 21, 2014 (142)
10 1000GENOMES ss1338726024 Aug 21, 2014 (142)
11 EVA_FINRISK ss1584069825 Apr 01, 2015 (144)
12 EVA_DECODE ss1597505772 Apr 01, 2015 (144)
13 EVA_UK10K_ALSPAC ss1625251986 Apr 01, 2015 (144)
14 EVA_UK10K_TWINSUK ss1668246019 Apr 01, 2015 (144)
15 EVA_EXAC ss1690033706 Apr 01, 2015 (144)
16 EVA_EXAC ss1690033707 Apr 01, 2015 (144)
17 EVA_MGP ss1711267330 Apr 01, 2015 (144)
18 ILLUMINA ss1751942120 Sep 08, 2015 (146)
19 ILLUMINA ss1917850454 Feb 12, 2016 (147)
20 ILLUMINA ss1946290852 Feb 12, 2016 (147)
21 ILLUMINA ss1959287622 Feb 12, 2016 (147)
22 JJLAB ss2026328203 Sep 14, 2016 (149)
23 USC_VALOUEV ss2154605394 Nov 08, 2017 (151)
24 HUMAN_LONGEVITY ss2177358043 Dec 20, 2016 (150)
25 ILLUMINA ss2710718140 Nov 08, 2017 (151)
26 GNOMAD ss2738454309 Nov 08, 2017 (151)
27 GNOMAD ss2748451613 Nov 08, 2017 (151)
28 GNOMAD ss2892419467 Nov 08, 2017 (151)
29 AFFY ss2984921073 Nov 08, 2017 (151)
30 SWEGEN ss3007008970 Nov 08, 2017 (151)
31 ILLUMINA ss3021267572 Nov 08, 2017 (151)
32 ILLUMINA ss3626516263 Oct 12, 2018 (152)
33 ILLUMINA ss3626516264 Oct 12, 2018 (152)
34 ILLUMINA ss3634419681 Oct 12, 2018 (152)
35 ILLUMINA ss3640127022 Oct 12, 2018 (152)
36 ILLUMINA ss3644543600 Oct 12, 2018 (152)
37 OMUKHERJEE_ADBS ss3646414331 Oct 12, 2018 (152)
38 ILLUMINA ss3651626185 Oct 12, 2018 (152)
39 ILLUMINA ss3653691862 Oct 12, 2018 (152)
40 EGCUT_WGS ss3674420768 Jul 13, 2019 (153)
41 EVA_DECODE ss3690513748 Jul 13, 2019 (153)
42 ILLUMINA ss3725181935 Jul 13, 2019 (153)
43 ACPOP ss3737608025 Jul 13, 2019 (153)
44 ILLUMINA ss3744370617 Jul 13, 2019 (153)
45 ILLUMINA ss3744720638 Jul 13, 2019 (153)
46 PAGE_CC ss3771577789 Jul 13, 2019 (153)
47 ILLUMINA ss3772220982 Jul 13, 2019 (153)
48 EVA ss3824545769 Apr 26, 2020 (154)
49 EVA ss3825781903 Apr 26, 2020 (154)
50 TOPMED ss4863516733 Apr 26, 2021 (155)
51 1000G_HIGH_COVERAGE ss5285176256 Oct 16, 2022 (156)
52 EVA ss5395485238 Oct 16, 2022 (156)
53 HUGCELL_USP ss5480626779 Oct 16, 2022 (156)
54 1000G_HIGH_COVERAGE ss5579697541 Oct 16, 2022 (156)
55 EVA ss5824842664 Oct 16, 2022 (156)
56 EVA ss5847606960 Oct 16, 2022 (156)
57 EVA ss5848305787 Oct 16, 2022 (156)
58 EVA ss5880188702 Oct 16, 2022 (156)
59 EVA ss5941224595 Oct 16, 2022 (156)
60 EVA ss5979336348 Oct 16, 2022 (156)
61 1000Genomes NC_000010.10 - 100219492 Oct 12, 2018 (152)
62 1000Genomes_30x NC_000010.11 - 98459735 Oct 16, 2022 (156)
63 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 100219492 Oct 12, 2018 (152)
64 Genetic variation in the Estonian population NC_000010.10 - 100219492 Oct 12, 2018 (152)
65 ExAC

Submission ignored due to conflicting rows:
Row 264759 (NC_000010.10:100219491:C:C 109006/109410, NC_000010.10:100219491:C:G 404/109410)
Row 264760 (NC_000010.10:100219491:C:C 109409/109410, NC_000010.10:100219491:C:T 1/109410)

- Oct 12, 2018 (152)
66 ExAC

Submission ignored due to conflicting rows:
Row 264759 (NC_000010.10:100219491:C:C 109006/109410, NC_000010.10:100219491:C:G 404/109410)
Row 264760 (NC_000010.10:100219491:C:C 109409/109410, NC_000010.10:100219491:C:T 1/109410)

- Oct 12, 2018 (152)
67 FINRISK NC_000010.10 - 100219492 Apr 26, 2020 (154)
68 gnomAD - Genomes NC_000010.11 - 98459735 Apr 26, 2021 (155)
69 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 7655214 (NC_000010.10:100219491:C:C 247979/247980, NC_000010.10:100219491:C:A 1/247980)
Row 7655215 (NC_000010.10:100219491:C:C 247138/247980, NC_000010.10:100219491:C:G 842/247980)
Row 7655216 (NC_000010.10:100219491:C:C 247979/247980, NC_000010.10:100219491:C:T 1/247980)

- Jul 13, 2019 (153)
70 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 7655214 (NC_000010.10:100219491:C:C 247979/247980, NC_000010.10:100219491:C:A 1/247980)
Row 7655215 (NC_000010.10:100219491:C:C 247138/247980, NC_000010.10:100219491:C:G 842/247980)
Row 7655216 (NC_000010.10:100219491:C:C 247979/247980, NC_000010.10:100219491:C:T 1/247980)

- Jul 13, 2019 (153)
71 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 7655214 (NC_000010.10:100219491:C:C 247979/247980, NC_000010.10:100219491:C:A 1/247980)
Row 7655215 (NC_000010.10:100219491:C:C 247138/247980, NC_000010.10:100219491:C:G 842/247980)
Row 7655216 (NC_000010.10:100219491:C:C 247979/247980, NC_000010.10:100219491:C:T 1/247980)

- Jul 13, 2019 (153)
72 GO Exome Sequencing Project NC_000010.10 - 100219492 Oct 12, 2018 (152)
73 Genome of the Netherlands Release 5 NC_000010.10 - 100219492 Apr 26, 2020 (154)
74 Medical Genome Project healthy controls from Spanish population NC_000010.10 - 100219492 Apr 26, 2020 (154)
75 Northern Sweden NC_000010.10 - 100219492 Jul 13, 2019 (153)
76 The PAGE Study NC_000010.11 - 98459735 Jul 13, 2019 (153)
77 Siberian NC_000010.10 - 100219492 Apr 26, 2020 (154)
78 TopMed NC_000010.11 - 98459735 Apr 26, 2021 (155)
79 UK 10K study - Twins NC_000010.10 - 100219492 Oct 12, 2018 (152)
80 ALFA NC_000010.11 - 98459735 Apr 26, 2021 (155)
81 ClinVar RCV000888076.4 Oct 16, 2022 (156)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss2738454309 NC_000010.10:100219491:C:A NC_000010.11:98459734:C:A (self)
ss491630871, ss1597505772 NC_000010.9:100209481:C:G NC_000010.11:98459734:C:G (self)
51160991, 28407178, 20159016, 66286, 1003446, 12666430, 383090, 10892890, 7121748, 28407178, ss336333094, ss342305566, ss491002784, ss491439301, ss535884360, ss657220918, ss783575874, ss987832338, ss1338726024, ss1584069825, ss1625251986, ss1668246019, ss1690033706, ss1711267330, ss1751942120, ss1917850454, ss1946290852, ss1959287622, ss2026328203, ss2154605394, ss2710718140, ss2738454309, ss2748451613, ss2892419467, ss2984921073, ss3007008970, ss3021267572, ss3626516263, ss3626516264, ss3634419681, ss3640127022, ss3644543600, ss3646414331, ss3651626185, ss3653691862, ss3674420768, ss3737608025, ss3744370617, ss3744720638, ss3772220982, ss3824545769, ss3825781903, ss5395485238, ss5824842664, ss5847606960, ss5848305787, ss5941224595, ss5979336348 NC_000010.10:100219491:C:G NC_000010.11:98459734:C:G (self)
RCV000888076.4, 67223476, 361481756, 799258, 79062388, 9504493365, ss2177358043, ss3690513748, ss3725181935, ss3771577789, ss4863516733, ss5285176256, ss5480626779, ss5579697541, ss5880188702 NC_000010.11:98459734:C:G NC_000010.11:98459734:C:G (self)
ss1690033707, ss2738454309 NC_000010.10:100219491:C:T NC_000010.11:98459734:C:T (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 rs140066668

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.post761+d5e8e07