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.

rs12338

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:11853379 (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
G>A / G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.368533 (97547/264690, TOPMED)
C=0.36566 (34289/93774, ALFA)
C=0.37601 (29551/78590, PAGE_STUDY) (+ 18 more)
C=0.36237 (4713/13006, GO-ESP)
C=0.3960 (1983/5008, 1000G)
C=0.3613 (1618/4478, Estonian)
C=0.4089 (1576/3854, ALSPAC)
C=0.3873 (1436/3708, TWINSUK)
G=0.4908 (1438/2930, KOREAN)
C=0.4962 (909/1832, Korea1K)
C=0.381 (380/998, GoNL)
C=0.481 (378/786, PRJEB37584)
C=0.472 (288/610, Vietnamese)
C=0.383 (230/600, NorthernSweden)
C=0.358 (191/534, MGP)
G=0.367 (119/324, SGDP_PRJ)
C=0.385 (120/312, HapMap)
C=0.361 (109/302, FINRISK)
C=0.352 (76/216, Qatari)
C=0.33 (13/40, GENOME_DK)
G=0.46 (11/24, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
CTSB : Missense Variant
Publications
4 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 93774 G=0.63434 A=0.00000, C=0.36566, T=0.00000
European Sub 81488 G=0.63440 A=0.00000, C=0.36560, T=0.00000
African Sub 2190 G=0.8466 A=0.0000, C=0.1534, T=0.0000
African Others Sub 122 G=0.811 A=0.000, C=0.189, T=0.000
African American Sub 2068 G=0.8486 A=0.0000, C=0.1514, T=0.0000
Asian Sub 3180 G=0.4830 A=0.0000, C=0.5170, T=0.0000
East Asian Sub 2574 G=0.4915 A=0.0000, C=0.5085, T=0.0000
Other Asian Sub 606 G=0.447 A=0.000, C=0.553, T=0.000
Latin American 1 Sub 696 G=0.670 A=0.000, C=0.330, T=0.000
Latin American 2 Sub 580 G=0.767 A=0.000, C=0.233, T=0.000
South Asian Sub 214 G=0.682 A=0.000, C=0.318, T=0.000
Other Sub 5426 G=0.6159 A=0.0000, C=0.3841, T=0.0000


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 G=0.631467 C=0.368533
Allele Frequency Aggregator Total Global 93774 G=0.63434 A=0.00000, C=0.36566, T=0.00000
Allele Frequency Aggregator European Sub 81488 G=0.63440 A=0.00000, C=0.36560, T=0.00000
Allele Frequency Aggregator Other Sub 5426 G=0.6159 A=0.0000, C=0.3841, T=0.0000
Allele Frequency Aggregator Asian Sub 3180 G=0.4830 A=0.0000, C=0.5170, T=0.0000
Allele Frequency Aggregator African Sub 2190 G=0.8466 A=0.0000, C=0.1534, T=0.0000
Allele Frequency Aggregator Latin American 1 Sub 696 G=0.670 A=0.000, C=0.330, T=0.000
Allele Frequency Aggregator Latin American 2 Sub 580 G=0.767 A=0.000, C=0.233, T=0.000
Allele Frequency Aggregator South Asian Sub 214 G=0.682 A=0.000, C=0.318, T=0.000
The PAGE Study Global Study-wide 78590 G=0.62399 C=0.37601
The PAGE Study AfricanAmerican Sub 32438 G=0.67073 C=0.32927
The PAGE Study Mexican Sub 10802 G=0.63211 C=0.36789
The PAGE Study Asian Sub 8318 G=0.4925 C=0.5075
The PAGE Study PuertoRican Sub 7914 G=0.6294 C=0.3706
The PAGE Study NativeHawaiian Sub 4534 G=0.4460 C=0.5540
The PAGE Study Cuban Sub 4224 G=0.6352 C=0.3648
The PAGE Study Dominican Sub 3818 G=0.6239 C=0.3761
The PAGE Study CentralAmerican Sub 2444 G=0.6980 C=0.3020
The PAGE Study SouthAmerican Sub 1982 G=0.6297 C=0.3703
The PAGE Study NativeAmerican Sub 1260 G=0.6333 C=0.3667
The PAGE Study SouthAsian Sub 856 G=0.627 C=0.373
GO Exome Sequencing Project Global Study-wide 13006 G=0.63763 C=0.36237
GO Exome Sequencing Project European American Sub 8600 G=0.6253 C=0.3747
GO Exome Sequencing Project African American Sub 4406 G=0.6616 C=0.3384
1000Genomes Global Study-wide 5008 G=0.6040 C=0.3960
1000Genomes African Sub 1322 G=0.6702 C=0.3298
1000Genomes East Asian Sub 1008 G=0.4851 C=0.5149
1000Genomes Europe Sub 1006 G=0.6173 C=0.3827
1000Genomes South Asian Sub 978 G=0.620 C=0.380
1000Genomes American Sub 694 G=0.610 C=0.390
Genetic variation in the Estonian population Estonian Study-wide 4478 G=0.6387 C=0.3613
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.5911 C=0.4089
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.6127 C=0.3873
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.4908 A=0.0000, C=0.5092
Korean Genome Project KOREAN Study-wide 1832 G=0.5038 C=0.4962
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.619 C=0.381
CNV burdens in cranial meningiomas Global Study-wide 786 G=0.519 C=0.481
CNV burdens in cranial meningiomas CRM Sub 786 G=0.519 C=0.481
A Vietnamese Genetic Variation Database Global Study-wide 610 G=0.528 C=0.472
Northern Sweden ACPOP Study-wide 600 G=0.617 C=0.383
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.642 C=0.358
SGDP_PRJ Global Study-wide 324 G=0.367 C=0.633
HapMap Global Study-wide 312 G=0.615 C=0.385
HapMap African Sub 118 G=0.627 C=0.373
HapMap American Sub 112 G=0.696 C=0.304
HapMap Asian Sub 82 G=0.49 C=0.51
FINRISK Finnish from FINRISK project Study-wide 302 G=0.639 C=0.361
Qatari Global Study-wide 216 G=0.648 C=0.352
The Danish reference pan genome Danish Study-wide 40 G=0.68 C=0.33
Siberian Global Study-wide 24 G=0.46 C=0.54
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.11853379G>A
GRCh38.p14 chr 8 NC_000008.11:g.11853379G>C
GRCh38.p14 chr 8 NC_000008.11:g.11853379G>T
GRCh37.p13 chr 8 NC_000008.10:g.11710888G>A
GRCh37.p13 chr 8 NC_000008.10:g.11710888G>C
GRCh37.p13 chr 8 NC_000008.10:g.11710888G>T
CTSB RefSeqGene NG_009217.2:g.19759C>T
CTSB RefSeqGene NG_009217.2:g.19759C>G
CTSB RefSeqGene NG_009217.2:g.19759C>A
LOC121268921 genomic region NG_074314.1:g.300G>A
LOC121268921 genomic region NG_074314.1:g.300G>C
LOC121268921 genomic region NG_074314.1:g.300G>T
GRCh38.p14 chr 8 fix patch HG76_PATCH NW_018654717.1:g.1494694C>T
GRCh38.p14 chr 8 fix patch HG76_PATCH NW_018654717.1:g.1494694C>G
GRCh38.p14 chr 8 fix patch HG76_PATCH NW_018654717.1:g.1494694C>A
Gene: CTSB, cathepsin B (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CTSB transcript variant 6 NM_001317237.2:c.-178= N/A 5 Prime UTR Variant
CTSB transcript variant 1 NM_001908.5:c.76C>T L [CTG] > L [TTG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_001899.1:p.Leu26= L (Leu) > L (Leu) Synonymous Variant
CTSB transcript variant 1 NM_001908.5:c.76C>G L [CTG] > V [GTG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_001899.1:p.Leu26Val L (Leu) > V (Val) Missense Variant
CTSB transcript variant 1 NM_001908.5:c.76C>A L [CTG] > M [ATG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_001899.1:p.Leu26Met L (Leu) > M (Met) Missense Variant
CTSB transcript variant 2 NM_147780.4:c.76C>T L [CTG] > L [TTG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_680090.1:p.Leu26= L (Leu) > L (Leu) Synonymous Variant
CTSB transcript variant 2 NM_147780.4:c.76C>G L [CTG] > V [GTG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_680090.1:p.Leu26Val L (Leu) > V (Val) Missense Variant
CTSB transcript variant 2 NM_147780.4:c.76C>A L [CTG] > M [ATG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_680090.1:p.Leu26Met L (Leu) > M (Met) Missense Variant
CTSB transcript variant 5 NM_147783.4:c.76C>T L [CTG] > L [TTG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_680093.1:p.Leu26= L (Leu) > L (Leu) Synonymous Variant
CTSB transcript variant 5 NM_147783.4:c.76C>G L [CTG] > V [GTG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_680093.1:p.Leu26Val L (Leu) > V (Val) Missense Variant
CTSB transcript variant 5 NM_147783.4:c.76C>A L [CTG] > M [ATG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_680093.1:p.Leu26Met L (Leu) > M (Met) Missense Variant
CTSB transcript variant 3 NM_147781.4:c.76C>T L [CTG] > L [TTG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_680091.1:p.Leu26= L (Leu) > L (Leu) Synonymous Variant
CTSB transcript variant 3 NM_147781.4:c.76C>G L [CTG] > V [GTG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_680091.1:p.Leu26Val L (Leu) > V (Val) Missense Variant
CTSB transcript variant 3 NM_147781.4:c.76C>A L [CTG] > M [ATG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_680091.1:p.Leu26Met L (Leu) > M (Met) Missense Variant
CTSB transcript variant 4 NM_147782.4:c.76C>T L [CTG] > L [TTG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_680092.1:p.Leu26= L (Leu) > L (Leu) Synonymous Variant
CTSB transcript variant 4 NM_147782.4:c.76C>G L [CTG] > V [GTG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_680092.1:p.Leu26Val L (Leu) > V (Val) Missense Variant
CTSB transcript variant 4 NM_147782.4:c.76C>A L [CTG] > M [ATG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_680092.1:p.Leu26Met L (Leu) > M (Met) Missense Variant
CTSB transcript variant 10 NM_001384725.1:c.76C>T L [CTG] > L [TTG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_001371654.1:p.Leu26= L (Leu) > L (Leu) Synonymous Variant
CTSB transcript variant 10 NM_001384725.1:c.76C>G L [CTG] > V [GTG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_001371654.1:p.Leu26Val L (Leu) > V (Val) Missense Variant
CTSB transcript variant 10 NM_001384725.1:c.76C>A L [CTG] > M [ATG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_001371654.1:p.Leu26Met L (Leu) > M (Met) Missense Variant
CTSB transcript variant 13 NM_001384728.1:c.76C>T L [CTG] > L [TTG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_001371657.1:p.Leu26= L (Leu) > L (Leu) Synonymous Variant
CTSB transcript variant 13 NM_001384728.1:c.76C>G L [CTG] > V [GTG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_001371657.1:p.Leu26Val L (Leu) > V (Val) Missense Variant
CTSB transcript variant 13 NM_001384728.1:c.76C>A L [CTG] > M [ATG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_001371657.1:p.Leu26Met L (Leu) > M (Met) Missense Variant
CTSB transcript variant 8 NM_001384723.1:c.76C>T L [CTG] > L [TTG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_001371652.1:p.Leu26= L (Leu) > L (Leu) Synonymous Variant
CTSB transcript variant 8 NM_001384723.1:c.76C>G L [CTG] > V [GTG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_001371652.1:p.Leu26Val L (Leu) > V (Val) Missense Variant
CTSB transcript variant 8 NM_001384723.1:c.76C>A L [CTG] > M [ATG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_001371652.1:p.Leu26Met L (Leu) > M (Met) Missense Variant
CTSB transcript variant 12 NM_001384727.1:c.76C>T L [CTG] > L [TTG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_001371656.1:p.Leu26= L (Leu) > L (Leu) Synonymous Variant
CTSB transcript variant 12 NM_001384727.1:c.76C>G L [CTG] > V [GTG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_001371656.1:p.Leu26Val L (Leu) > V (Val) Missense Variant
CTSB transcript variant 12 NM_001384727.1:c.76C>A L [CTG] > M [ATG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_001371656.1:p.Leu26Met L (Leu) > M (Met) Missense Variant
CTSB transcript variant 7 NM_001384714.1:c.76C>T L [CTG] > L [TTG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_001371643.1:p.Leu26= L (Leu) > L (Leu) Synonymous Variant
CTSB transcript variant 7 NM_001384714.1:c.76C>G L [CTG] > V [GTG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_001371643.1:p.Leu26Val L (Leu) > V (Val) Missense Variant
CTSB transcript variant 7 NM_001384714.1:c.76C>A L [CTG] > M [ATG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_001371643.1:p.Leu26Met L (Leu) > M (Met) Missense Variant
CTSB transcript variant 9 NM_001384724.1:c.76C>T L [CTG] > L [TTG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_001371653.1:p.Leu26= L (Leu) > L (Leu) Synonymous Variant
CTSB transcript variant 9 NM_001384724.1:c.76C>G L [CTG] > V [GTG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_001371653.1:p.Leu26Val L (Leu) > V (Val) Missense Variant
CTSB transcript variant 9 NM_001384724.1:c.76C>A L [CTG] > M [ATG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_001371653.1:p.Leu26Met L (Leu) > M (Met) Missense Variant
CTSB transcript variant 11 NM_001384726.1:c.76C>T L [CTG] > L [TTG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_001371655.1:p.Leu26= L (Leu) > L (Leu) Synonymous Variant
CTSB transcript variant 11 NM_001384726.1:c.76C>G L [CTG] > V [GTG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_001371655.1:p.Leu26Val L (Leu) > V (Val) Missense Variant
CTSB transcript variant 11 NM_001384726.1:c.76C>A L [CTG] > M [ATG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_001371655.1:p.Leu26Met L (Leu) > 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: C (allele ID: 1155842 )
ClinVar Accession Disease Names Clinical Significance
RCV001518415.4 not provided Benign
Allele: T (allele ID: 1502174 )
ClinVar Accession Disease Names Clinical Significance
RCV001942580.3 not provided Uncertain-Significance
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 G= A C T
GRCh38.p14 chr 8 NC_000008.11:g.11853379= NC_000008.11:g.11853379G>A NC_000008.11:g.11853379G>C NC_000008.11:g.11853379G>T
GRCh37.p13 chr 8 NC_000008.10:g.11710888= NC_000008.10:g.11710888G>A NC_000008.10:g.11710888G>C NC_000008.10:g.11710888G>T
CTSB RefSeqGene NG_009217.2:g.19759= NG_009217.2:g.19759C>T NG_009217.2:g.19759C>G NG_009217.2:g.19759C>A
CTSB transcript variant 1 NM_001908.5:c.76= NM_001908.5:c.76C>T NM_001908.5:c.76C>G NM_001908.5:c.76C>A
CTSB transcript variant 1 NM_001908.4:c.76= NM_001908.4:c.76C>T NM_001908.4:c.76C>G NM_001908.4:c.76C>A
CTSB transcript variant 1 NM_001908.3:c.76= NM_001908.3:c.76C>T NM_001908.3:c.76C>G NM_001908.3:c.76C>A
CTSB transcript variant 2 NM_147780.4:c.76= NM_147780.4:c.76C>T NM_147780.4:c.76C>G NM_147780.4:c.76C>A
CTSB transcript variant 2 NM_147780.3:c.76= NM_147780.3:c.76C>T NM_147780.3:c.76C>G NM_147780.3:c.76C>A
CTSB transcript variant 2 NM_147780.2:c.76= NM_147780.2:c.76C>T NM_147780.2:c.76C>G NM_147780.2:c.76C>A
CTSB transcript variant 3 NM_147781.4:c.76= NM_147781.4:c.76C>T NM_147781.4:c.76C>G NM_147781.4:c.76C>A
CTSB transcript variant 3 NM_147781.3:c.76= NM_147781.3:c.76C>T NM_147781.3:c.76C>G NM_147781.3:c.76C>A
CTSB transcript variant 3 NM_147781.2:c.76= NM_147781.2:c.76C>T NM_147781.2:c.76C>G NM_147781.2:c.76C>A
CTSB transcript variant 4 NM_147782.4:c.76= NM_147782.4:c.76C>T NM_147782.4:c.76C>G NM_147782.4:c.76C>A
CTSB transcript variant 4 NM_147782.3:c.76= NM_147782.3:c.76C>T NM_147782.3:c.76C>G NM_147782.3:c.76C>A
CTSB transcript variant 4 NM_147782.2:c.76= NM_147782.2:c.76C>T NM_147782.2:c.76C>G NM_147782.2:c.76C>A
CTSB transcript variant 5 NM_147783.4:c.76= NM_147783.4:c.76C>T NM_147783.4:c.76C>G NM_147783.4:c.76C>A
CTSB transcript variant 5 NM_147783.3:c.76= NM_147783.3:c.76C>T NM_147783.3:c.76C>G NM_147783.3:c.76C>A
CTSB transcript variant 5 NM_147783.2:c.76= NM_147783.2:c.76C>T NM_147783.2:c.76C>G NM_147783.2:c.76C>A
CTSB transcript variant 6 NM_001317237.2:c.-178= NM_001317237.2:c.-178C>T NM_001317237.2:c.-178C>G NM_001317237.2:c.-178C>A
CTSB transcript variant 6 NM_001317237.1:c.-178= NM_001317237.1:c.-178C>T NM_001317237.1:c.-178C>G NM_001317237.1:c.-178C>A
CTSB transcript variant 7 NM_001384714.1:c.76= NM_001384714.1:c.76C>T NM_001384714.1:c.76C>G NM_001384714.1:c.76C>A
CTSB transcript variant 8 NM_001384723.1:c.76= NM_001384723.1:c.76C>T NM_001384723.1:c.76C>G NM_001384723.1:c.76C>A
CTSB transcript variant 9 NM_001384724.1:c.76= NM_001384724.1:c.76C>T NM_001384724.1:c.76C>G NM_001384724.1:c.76C>A
CTSB transcript variant 10 NM_001384725.1:c.76= NM_001384725.1:c.76C>T NM_001384725.1:c.76C>G NM_001384725.1:c.76C>A
CTSB transcript variant 11 NM_001384726.1:c.76= NM_001384726.1:c.76C>T NM_001384726.1:c.76C>G NM_001384726.1:c.76C>A
CTSB transcript variant 12 NM_001384727.1:c.76= NM_001384727.1:c.76C>T NM_001384727.1:c.76C>G NM_001384727.1:c.76C>A
CTSB transcript variant 13 NM_001384728.1:c.76= NM_001384728.1:c.76C>T NM_001384728.1:c.76C>G NM_001384728.1:c.76C>A
LOC121268921 genomic region NG_074314.1:g.300= NG_074314.1:g.300G>A NG_074314.1:g.300G>C NG_074314.1:g.300G>T
GRCh38.p14 chr 8 fix patch HG76_PATCH NW_018654717.1:g.1494694= NW_018654717.1:g.1494694C>T NW_018654717.1:g.1494694C>G NW_018654717.1:g.1494694C>A
cathepsin B isoform 1 preproprotein NP_001899.1:p.Leu26= NP_001899.1:p.Leu26= NP_001899.1:p.Leu26Val NP_001899.1:p.Leu26Met
cathepsin B isoform 1 preproprotein NP_680090.1:p.Leu26= NP_680090.1:p.Leu26= NP_680090.1:p.Leu26Val NP_680090.1:p.Leu26Met
cathepsin B isoform 1 preproprotein NP_680091.1:p.Leu26= NP_680091.1:p.Leu26= NP_680091.1:p.Leu26Val NP_680091.1:p.Leu26Met
cathepsin B isoform 1 preproprotein NP_680092.1:p.Leu26= NP_680092.1:p.Leu26= NP_680092.1:p.Leu26Val NP_680092.1:p.Leu26Met
cathepsin B isoform 1 preproprotein NP_680093.1:p.Leu26= NP_680093.1:p.Leu26= NP_680093.1:p.Leu26Val NP_680093.1:p.Leu26Met
cathepsin B isoform 1 preproprotein NP_001371643.1:p.Leu26= NP_001371643.1:p.Leu26= NP_001371643.1:p.Leu26Val NP_001371643.1:p.Leu26Met
cathepsin B isoform 1 preproprotein NP_001371652.1:p.Leu26= NP_001371652.1:p.Leu26= NP_001371652.1:p.Leu26Val NP_001371652.1:p.Leu26Met
cathepsin B isoform 1 preproprotein NP_001371653.1:p.Leu26= NP_001371653.1:p.Leu26= NP_001371653.1:p.Leu26Val NP_001371653.1:p.Leu26Met
cathepsin B isoform 1 preproprotein NP_001371654.1:p.Leu26= NP_001371654.1:p.Leu26= NP_001371654.1:p.Leu26Val NP_001371654.1:p.Leu26Met
cathepsin B isoform 1 preproprotein NP_001371655.1:p.Leu26= NP_001371655.1:p.Leu26= NP_001371655.1:p.Leu26Val NP_001371655.1:p.Leu26Met
cathepsin B isoform 1 preproprotein NP_001371656.1:p.Leu26= NP_001371656.1:p.Leu26= NP_001371656.1:p.Leu26Val NP_001371656.1:p.Leu26Met
cathepsin B isoform 1 preproprotein NP_001371657.1:p.Leu26= NP_001371657.1:p.Leu26= NP_001371657.1:p.Leu26Val NP_001371657.1:p.Leu26Met
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#.

150 SubSNP, 34 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 CGAP-GAI ss14608 Sep 19, 2000 (52)
2 WIAF-CSNP ss20183 Dec 09, 1999 (85)
3 TSC-CSHL ss1457603 Oct 13, 2000 (123)
4 LEE ss1542903 Oct 05, 2000 (105)
5 YUSUKE ss3207978 Sep 28, 2001 (105)
6 LEE ss4429328 May 29, 2002 (108)
7 SC_JCM ss5682552 Feb 20, 2003 (123)
8 CGAP-GAI ss16247622 Feb 27, 2004 (123)
9 PERLEGEN ss23967647 Sep 20, 2004 (123)
10 MGC_GENOME_DIFF ss28509721 Sep 24, 2004 (126)
11 ABI ss44866062 Mar 10, 2006 (126)
12 PERLEGEN ss69039963 May 16, 2007 (127)
13 AFFY ss74814865 Aug 16, 2007 (128)
14 HGSV ss77774055 Dec 07, 2007 (129)
15 BCMHGSC_JDW ss93833150 Mar 25, 2008 (129)
16 BGI ss104502525 Dec 01, 2009 (131)
17 1000GENOMES ss114959578 Jan 25, 2009 (130)
18 ILLUMINA-UK ss115847009 Feb 14, 2009 (130)
19 ENSEMBL ss143253848 Dec 01, 2009 (131)
20 GMI ss155999189 Dec 01, 2009 (131)
21 SEATTLESEQ ss159716440 Dec 01, 2009 (131)
22 COMPLETE_GENOMICS ss162139662 Jul 04, 2010 (132)
23 COMPLETE_GENOMICS ss163928398 Jul 04, 2010 (132)
24 COMPLETE_GENOMICS ss166223116 Jul 04, 2010 (132)
25 ILLUMINA ss169050533 Jul 04, 2010 (132)
26 BUSHMAN ss198774860 Jul 04, 2010 (132)
27 1000GENOMES ss223536028 Jul 14, 2010 (132)
28 1000GENOMES ss234315276 Jul 15, 2010 (132)
29 1000GENOMES ss241197903 Jul 15, 2010 (132)
30 ILLUMINA ss244276102 Jul 04, 2010 (132)
31 BL ss254095635 May 09, 2011 (134)
32 GMI ss279685099 May 04, 2012 (137)
33 GMI ss285789542 Apr 25, 2013 (138)
34 PJP ss294214426 May 09, 2011 (134)
35 NHLBI-ESP ss342253029 May 09, 2011 (134)
36 ILLUMINA ss484091441 May 04, 2012 (137)
37 ILLUMINA ss485525631 May 04, 2012 (137)
38 1000GENOMES ss490959911 May 04, 2012 (137)
39 EXOME_CHIP ss491410221 May 04, 2012 (137)
40 CLINSEQ_SNP ss491920902 May 04, 2012 (137)
41 ILLUMINA ss532743062 Sep 08, 2015 (146)
42 TISHKOFF ss560542490 Apr 25, 2013 (138)
43 SSMP ss654972099 Apr 25, 2013 (138)
44 ILLUMINA ss779525181 Sep 08, 2015 (146)
45 ILLUMINA ss780867399 Sep 08, 2015 (146)
46 ILLUMINA ss782490739 Sep 08, 2015 (146)
47 ILLUMINA ss783552312 Sep 08, 2015 (146)
48 ILLUMINA ss834995692 Sep 08, 2015 (146)
49 JMKIDD_LAB ss974467196 Aug 21, 2014 (142)
50 EVA-GONL ss985182645 Aug 21, 2014 (142)
51 JMKIDD_LAB ss1067495507 Aug 21, 2014 (142)
52 JMKIDD_LAB ss1075266972 Aug 21, 2014 (142)
53 1000GENOMES ss1328578679 Aug 21, 2014 (142)
54 DDI ss1431409815 Apr 01, 2015 (144)
55 EVA_GENOME_DK ss1582553725 Apr 01, 2015 (144)
56 EVA_FINRISK ss1584057045 Apr 01, 2015 (144)
57 EVA_DECODE ss1594770134 Apr 01, 2015 (144)
58 EVA_UK10K_ALSPAC ss1619961165 Apr 01, 2015 (144)
59 EVA_UK10K_TWINSUK ss1662955198 Apr 01, 2015 (144)
60 EVA_EXAC ss1689090458 Apr 01, 2015 (144)
61 EVA_EXAC ss1689090459 Apr 01, 2015 (144)
62 EVA_EXAC ss1689090460 Apr 01, 2015 (144)
63 EVA_MGP ss1711192261 Apr 01, 2015 (144)
64 ILLUMINA ss1752708270 Sep 08, 2015 (146)
65 HAMMER_LAB ss1805393238 Sep 08, 2015 (146)
66 ILLUMINA ss1917825774 Feb 12, 2016 (147)
67 WEILL_CORNELL_DGM ss1928465737 Feb 12, 2016 (147)
68 ILLUMINA ss1946229635 Feb 12, 2016 (147)
69 ILLUMINA ss1959086796 Feb 12, 2016 (147)
70 GENOMED ss1970905450 Jul 19, 2016 (147)
71 JJLAB ss2024926689 Sep 14, 2016 (149)
72 USC_VALOUEV ss2153151137 Dec 20, 2016 (150)
73 HUMAN_LONGEVITY ss2300648622 Dec 20, 2016 (150)
74 SYSTEMSBIOZJU ss2626949543 Nov 08, 2017 (151)
75 ILLUMINA ss2634708739 Nov 08, 2017 (151)
76 GRF ss2708904732 Nov 08, 2017 (151)
77 ILLUMINA ss2711130071 Nov 08, 2017 (151)
78 GNOMAD ss2736989841 Nov 08, 2017 (151)
79 GNOMAD ss2747996423 Nov 08, 2017 (151)
80 GNOMAD ss2863172426 Nov 08, 2017 (151)
81 AFFY ss2985431171 Nov 08, 2017 (151)
82 AFFY ss2986073219 Nov 08, 2017 (151)
83 SWEGEN ss3002657133 Nov 08, 2017 (151)
84 ILLUMINA ss3022818217 Nov 08, 2017 (151)
85 EVA_SAMSUNG_MC ss3023063874 Nov 08, 2017 (151)
86 BIOINF_KMB_FNS_UNIBA ss3026253500 Nov 08, 2017 (151)
87 CSHL ss3348035654 Nov 08, 2017 (151)
88 ILLUMINA ss3629994809 Oct 12, 2018 (152)
89 ILLUMINA ss3629994810 Oct 12, 2018 (152)
90 ILLUMINA ss3632609907 Oct 12, 2018 (152)
91 ILLUMINA ss3635158183 Oct 12, 2018 (152)
92 ILLUMINA ss3638743317 Oct 12, 2018 (152)
93 ILLUMINA ss3640865473 Oct 12, 2018 (152)
94 ILLUMINA ss3644962804 Oct 12, 2018 (152)
95 OMUKHERJEE_ADBS ss3646371362 Oct 12, 2018 (152)
96 URBANLAB ss3648845792 Oct 12, 2018 (152)
97 ILLUMINA ss3653358689 Oct 12, 2018 (152)
98 ILLUMINA ss3654192866 Oct 12, 2018 (152)
99 EGCUT_WGS ss3670352664 Jul 13, 2019 (153)
100 EVA_DECODE ss3721394792 Jul 13, 2019 (153)
101 ILLUMINA ss3726513374 Jul 13, 2019 (153)
102 ACPOP ss3735390129 Jul 13, 2019 (153)
103 ILLUMINA ss3744577128 Jul 13, 2019 (153)
104 ILLUMINA ss3745458016 Jul 13, 2019 (153)
105 EVA ss3767613079 Jul 13, 2019 (153)
106 PAGE_CC ss3771423307 Jul 13, 2019 (153)
107 ILLUMINA ss3772950642 Jul 13, 2019 (153)
108 KHV_HUMAN_GENOMES ss3810771667 Jul 13, 2019 (153)
109 EVA ss3824347405 Apr 26, 2020 (154)
110 EVA ss3825525030 Apr 26, 2020 (154)
111 EVA ss3825540765 Apr 26, 2020 (154)
112 EVA ss3825736065 Apr 26, 2020 (154)
113 EVA ss3831008033 Apr 26, 2020 (154)
114 EVA ss3839010724 Apr 26, 2020 (154)
115 EVA ss3844469478 Apr 26, 2020 (154)
116 SGDP_PRJ ss3869240823 Apr 26, 2020 (154)
117 KRGDB ss3916663029 Apr 26, 2020 (154)
118 KOGIC ss3963244001 Apr 26, 2020 (154)
119 FSA-LAB ss3984392071 Apr 26, 2021 (155)
120 FSA-LAB ss3984392072 Apr 26, 2021 (155)
121 EVA ss3984600883 Apr 26, 2021 (155)
122 EVA ss3986042730 Apr 26, 2021 (155)
123 EVA ss3986413760 Apr 26, 2021 (155)
124 TOPMED ss4775463496 Apr 26, 2021 (155)
125 TOMMO_GENOMICS ss5187272053 Apr 26, 2021 (155)
126 TOMMO_GENOMICS ss5187272054 Apr 26, 2021 (155)
127 EVA ss5237040639 Apr 26, 2021 (155)
128 EVA ss5237200092 Apr 26, 2021 (155)
129 EVA ss5237650847 Oct 16, 2022 (156)
130 1000G_HIGH_COVERAGE ss5276034687 Oct 16, 2022 (156)
131 1000G_HIGH_COVERAGE ss5276034688 Oct 16, 2022 (156)
132 EVA ss5315309126 Oct 16, 2022 (156)
133 EVA ss5379118165 Oct 16, 2022 (156)
134 HUGCELL_USP ss5472724028 Oct 16, 2022 (156)
135 EVA ss5509242779 Oct 16, 2022 (156)
136 EVA ss5624175495 Oct 16, 2022 (156)
137 SANFORD_IMAGENETICS ss5644743675 Oct 16, 2022 (156)
138 TOMMO_GENOMICS ss5728785967 Oct 16, 2022 (156)
139 TOMMO_GENOMICS ss5728785968 Oct 16, 2022 (156)
140 EVA ss5800059130 Oct 16, 2022 (156)
141 EVA ss5800145221 Oct 16, 2022 (156)
142 YY_MCH ss5809434773 Oct 16, 2022 (156)
143 EVA ss5830106420 Oct 16, 2022 (156)
144 EVA ss5848166945 Oct 16, 2022 (156)
145 EVA ss5848701180 Oct 16, 2022 (156)
146 EVA ss5856247728 Oct 16, 2022 (156)
147 EVA ss5887697446 Oct 16, 2022 (156)
148 EVA ss5973929701 Oct 16, 2022 (156)
149 EVA ss5980487253 Oct 16, 2022 (156)
150 EVA ss5981247969 Oct 16, 2022 (156)
151 1000Genomes NC_000008.10 - 11710888 Oct 12, 2018 (152)
152 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 11710888 Oct 12, 2018 (152)
153 Genetic variation in the Estonian population NC_000008.10 - 11710888 Oct 12, 2018 (152)
154 ExAC

Submission ignored due to conflicting rows:
Row 9182789 (NC_000008.10:11710887:G:G 75098/121258, NC_000008.10:11710887:G:C 46160/121258)
Row 9182790 (NC_000008.10:11710887:G:G 121256/121258, NC_000008.10:11710887:G:A 2/121258)
Row 9182791 (NC_000008.10:11710887:G:G 121255/121258, NC_000008.10:11710887:G:T 3/121258)

- Oct 12, 2018 (152)
155 ExAC

Submission ignored due to conflicting rows:
Row 9182789 (NC_000008.10:11710887:G:G 75098/121258, NC_000008.10:11710887:G:C 46160/121258)
Row 9182790 (NC_000008.10:11710887:G:G 121256/121258, NC_000008.10:11710887:G:A 2/121258)
Row 9182791 (NC_000008.10:11710887:G:G 121255/121258, NC_000008.10:11710887:G:T 3/121258)

- Oct 12, 2018 (152)
156 ExAC

Submission ignored due to conflicting rows:
Row 9182789 (NC_000008.10:11710887:G:G 75098/121258, NC_000008.10:11710887:G:C 46160/121258)
Row 9182790 (NC_000008.10:11710887:G:G 121256/121258, NC_000008.10:11710887:G:A 2/121258)
Row 9182791 (NC_000008.10:11710887:G:G 121255/121258, NC_000008.10:11710887:G:T 3/121258)

- Oct 12, 2018 (152)
157 FINRISK NC_000008.10 - 11710888 Apr 26, 2020 (154)
158 The Danish reference pan genome NC_000008.10 - 11710888 Apr 26, 2020 (154)
159 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 286864030 (NC_000008.11:11853378:G:A 1/138652)
Row 286864031 (NC_000008.11:11853378:G:C 51042/138506)
Row 286864032 (NC_000008.11:11853378:G:T 8/138652)

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

Submission ignored due to conflicting rows:
Row 286864030 (NC_000008.11:11853378:G:A 1/138652)
Row 286864031 (NC_000008.11:11853378:G:C 51042/138506)
Row 286864032 (NC_000008.11:11853378:G:T 8/138652)

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

Submission ignored due to conflicting rows:
Row 286864030 (NC_000008.11:11853378:G:A 1/138652)
Row 286864031 (NC_000008.11:11853378:G:C 51042/138506)
Row 286864032 (NC_000008.11:11853378:G:T 8/138652)

- Apr 26, 2021 (155)
162 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 6156759 (NC_000008.10:11710887:G:G 251102/251104, NC_000008.10:11710887:G:A 2/251104)
Row 6156760 (NC_000008.10:11710887:G:G 156105/251104, NC_000008.10:11710887:G:C 94999/251104)
Row 6156761 (NC_000008.10:11710887:G:G 251098/251104, NC_000008.10:11710887:G:T 6/251104)

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

Submission ignored due to conflicting rows:
Row 6156759 (NC_000008.10:11710887:G:G 251102/251104, NC_000008.10:11710887:G:A 2/251104)
Row 6156760 (NC_000008.10:11710887:G:G 156105/251104, NC_000008.10:11710887:G:C 94999/251104)
Row 6156761 (NC_000008.10:11710887:G:G 251098/251104, NC_000008.10:11710887:G:T 6/251104)

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

Submission ignored due to conflicting rows:
Row 6156759 (NC_000008.10:11710887:G:G 251102/251104, NC_000008.10:11710887:G:A 2/251104)
Row 6156760 (NC_000008.10:11710887:G:G 156105/251104, NC_000008.10:11710887:G:C 94999/251104)
Row 6156761 (NC_000008.10:11710887:G:G 251098/251104, NC_000008.10:11710887:G:T 6/251104)

- Jul 13, 2019 (153)
165 GO Exome Sequencing Project NC_000008.10 - 11710888 Oct 12, 2018 (152)
166 Genome of the Netherlands Release 5 NC_000008.10 - 11710888 Apr 26, 2020 (154)
167 HapMap NC_000008.11 - 11853379 Apr 26, 2020 (154)
168 KOREAN population from KRGDB NC_000008.10 - 11710888 Apr 26, 2020 (154)
169 Korean Genome Project NC_000008.11 - 11853379 Apr 26, 2020 (154)
170 Medical Genome Project healthy controls from Spanish population NC_000008.10 - 11710888 Apr 26, 2020 (154)
171 Northern Sweden NC_000008.10 - 11710888 Jul 13, 2019 (153)
172 The PAGE Study NC_000008.11 - 11853379 Jul 13, 2019 (153)
173 CNV burdens in cranial meningiomas NC_000008.10 - 11710888 Apr 26, 2021 (155)
174 Qatari NC_000008.10 - 11710888 Apr 26, 2020 (154)
175 SGDP_PRJ NC_000008.10 - 11710888 Apr 26, 2020 (154)
176 Siberian NC_000008.10 - 11710888 Apr 26, 2020 (154)
177 8.3KJPN

Submission ignored due to conflicting rows:
Row 45241360 (NC_000008.10:11710887:G:C 8538/16760)
Row 45241361 (NC_000008.10:11710887:G:T 6/16760)

- Apr 26, 2021 (155)
178 8.3KJPN

Submission ignored due to conflicting rows:
Row 45241360 (NC_000008.10:11710887:G:C 8538/16760)
Row 45241361 (NC_000008.10:11710887:G:T 6/16760)

- Apr 26, 2021 (155)
179 14KJPN

Submission ignored due to conflicting rows:
Row 62623071 (NC_000008.11:11853378:G:C 14247/28256)
Row 62623072 (NC_000008.11:11853378:G:T 10/28256)

- Oct 16, 2022 (156)
180 14KJPN

Submission ignored due to conflicting rows:
Row 62623071 (NC_000008.11:11853378:G:C 14247/28256)
Row 62623072 (NC_000008.11:11853378:G:T 10/28256)

- Oct 16, 2022 (156)
181 TopMed NC_000008.11 - 11853379 Apr 26, 2021 (155)
182 UK 10K study - Twins NC_000008.10 - 11710888 Oct 12, 2018 (152)
183 A Vietnamese Genetic Variation Database NC_000008.10 - 11710888 Jul 13, 2019 (153)
184 ALFA NC_000008.11 - 11853379 Apr 26, 2021 (155)
185 ClinVar RCV001518415.4 Oct 16, 2022 (156)
186 ClinVar RCV001942580.3 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).

Associated ID History Updated (Build)
rs17572 Sep 19, 2000 (85)
rs1059863 May 29, 2002 (105)
rs1122181 Oct 08, 2004 (123)
rs3200720 Oct 08, 2002 (108)
rs4292649 Oct 08, 2004 (123)
rs17855419 Mar 10, 2006 (126)
rs52795645 Sep 21, 2007 (128)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
23840423, ss1689090459, ss2736989841, ss3916663029 NC_000008.10:11710887:G:A NC_000008.11:11853378:G:A (self)
14144121950, ss2300648622 NC_000008.11:11853378:G:A NC_000008.11:11853378:G:A (self)
ss77774055, ss93833150, ss114959578, ss115847009, ss162139662, ss163928398, ss166223116, ss198774860, ss254095635, ss279685099, ss285789542, ss294214426, ss485525631, ss491920902, ss1594770134 NC_000008.9:11748296:G:C NC_000008.11:11853378:G:C (self)
40665126, 22611492, 16090912, 53506, 8718663, 805269, 10099212, 23840423, 308021, 8674994, 150318, 10507667, 21257803, 5667491, 22611492, 5035985, ss223536028, ss234315276, ss241197903, ss342253029, ss484091441, ss490959911, ss491410221, ss532743062, ss560542490, ss654972099, ss779525181, ss780867399, ss782490739, ss783552312, ss834995692, ss974467196, ss985182645, ss1067495507, ss1075266972, ss1328578679, ss1431409815, ss1582553725, ss1584057045, ss1619961165, ss1662955198, ss1689090458, ss1711192261, ss1752708270, ss1805393238, ss1917825774, ss1928465737, ss1946229635, ss1959086796, ss1970905450, ss2024926689, ss2153151137, ss2626949543, ss2634708739, ss2708904732, ss2711130071, ss2736989841, ss2747996423, ss2863172426, ss2985431171, ss2986073219, ss3002657133, ss3022818217, ss3023063874, ss3348035654, ss3629994809, ss3629994810, ss3632609907, ss3635158183, ss3638743317, ss3640865473, ss3644962804, ss3646371362, ss3653358689, ss3654192866, ss3670352664, ss3735390129, ss3744577128, ss3745458016, ss3767613079, ss3772950642, ss3824347405, ss3825525030, ss3825540765, ss3825736065, ss3831008033, ss3839010724, ss3869240823, ss3916663029, ss3984392071, ss3984392072, ss3984600883, ss3986042730, ss3986413760, ss5187272053, ss5315309126, ss5379118165, ss5509242779, ss5624175495, ss5644743675, ss5800059130, ss5800145221, ss5830106420, ss5848166945, ss5848701180, ss5973929701, ss5980487253, ss5981247969 NC_000008.10:11710887:G:C NC_000008.11:11853378:G:C (self)
RCV001518415.4, 3563070, 19622002, 644776, 612841056, 14144121950, ss2300648622, ss3026253500, ss3648845792, ss3721394792, ss3726513374, ss3771423307, ss3810771667, ss3844469478, ss3963244001, ss4775463496, ss5237040639, ss5237200092, ss5237650847, ss5276034687, ss5472724028, ss5728785967, ss5809434773, ss5856247728, ss5887697446 NC_000008.11:11853378:G:C NC_000008.11:11853378:G:C (self)
ss14608, ss20183, ss1457603, ss1542903, ss3207978, ss4429328, ss5682552, ss16247622, ss23967647, ss28509721, ss44866062, ss69039963, ss74814865, ss104502525, ss143253848, ss155999189, ss159716440, ss169050533, ss244276102 NT_077531.4:4186238:G:C NC_000008.11:11853378:G:C (self)
ss1689090460, ss2736989841, ss2747996423, ss2863172426, ss3986413760, ss5187272054 NC_000008.10:11710887:G:T NC_000008.11:11853378:G:T (self)
RCV001942580.3, 14144121950, ss2300648622, ss5276034688, ss5728785968 NC_000008.11:11853378:G:T NC_000008.11:11853378:G:T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

4 citations for rs12338
PMID Title Author Year Journal
22851129 Cathepsin B SNPs elevate the pathological development of oral cancer and raise the susceptibility to carcinogen-mediated oral cancer. Chen MK et al. 2012 Human genetics
29958078 Identification of nine novel loci related to hematological traits in a Japanese population. Yasukochi Y et al. 2018 Physiological genomics
32754840 Pancreas Divisum Increases the Risk of Recurrent Acute Pancreatitis in Patients with rs12338 Polymorphism in the Cathepsin B Gene. Talukdar R et al. 2021 Digestive diseases and sciences
34013078 Host pharmacogenetic factors that may affect liver neoplasm incidence upon using direct-acting antivirals for treating hepatitis C infection. Zidan AM et al. 2021 Heliyon
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