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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.

rs1438728385

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr10:70781972 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000004 (1/264690, TOPMED)
A=0.000007 (1/140316, GnomAD)
A=0.00000 (0/11862, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TBATA : 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 28222 C=0.99996 A=0.00004 0.999929 0.0 7.1e-05 0
European Sub 17706 C=1.00000 A=0.00000 1.0 0.0 0.0 N/A
African Sub 7654 C=0.9999 A=0.0001 0.999739 0.0 0.000261 0
African Others Sub 292 C=1.000 A=0.000 1.0 0.0 0.0 N/A
African American Sub 7362 C=0.9999 A=0.0001 0.999728 0.0 0.000272 0
Asian Sub 108 C=1.000 A=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 C=1.00 A=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 C=1.00 A=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 C=1.000 A=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 C=1.000 A=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 C=1.00 A=0.00 1.0 0.0 0.0 N/A
Other Sub 1904 C=1.0000 A=0.0000 1.0 0.0 0.0 N/A


Help

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

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 C=0.999996 A=0.000004
gnomAD - Genomes Global Study-wide 140316 C=0.999993 A=0.000007
gnomAD - Genomes European Sub 75962 C=0.99999 A=0.00001
gnomAD - Genomes African Sub 42074 C=1.00000 A=0.00000
gnomAD - Genomes American Sub 13668 C=1.00000 A=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3134 C=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2154 C=1.0000 A=0.0000
Allele Frequency Aggregator Total Global 11862 C=1.00000 A=0.00000
Allele Frequency Aggregator European Sub 7618 C=1.0000 A=0.0000
Allele Frequency Aggregator African Sub 2816 C=1.0000 A=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 A=0.000
Allele Frequency Aggregator Other Sub 470 C=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 A=0.000
Allele Frequency Aggregator Asian Sub 108 C=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 94 C=1.00 A=0.00
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.70781972C>A
GRCh37.p13 chr 10 NC_000010.10:g.72541728C>A
Gene: TBATA, thymus, brain and testes associated (minus strand)
Molecule type Change Amino acid[Codon] SO Term
TBATA transcript variant 3 NM_001318242.2:c.106G>T G [GGG] > W [TGG] Coding Sequence Variant
protein TBATA isoform b NP_001305171.1:p.Gly36Trp G (Gly) > W (Trp) Missense Variant
TBATA transcript variant 4 NM_001318243.2:c.106G>T G [GGG] > W [TGG] Coding Sequence Variant
protein TBATA isoform c NP_001305172.1:p.Gly36Trp G (Gly) > W (Trp) Missense Variant
TBATA transcript variant 2 NM_152710.4:c.106G>T G [GGG] > W [TGG] Coding Sequence Variant
protein TBATA isoform b NP_689923.3:p.Gly36Trp G (Gly) > W (Trp) Missense Variant
TBATA transcript variant 1 NM_001318241.2:c.106G>T G [GGG] > W [TGG] Coding Sequence Variant
protein TBATA isoform a NP_001305170.1:p.Gly36Trp G (Gly) > W (Trp) Missense Variant
TBATA transcript variant 5 NR_134531.2:n.472G>T N/A Non Coding Transcript Variant
TBATA transcript variant 8 NR_134534.2:n.79G>T N/A Non Coding Transcript Variant
TBATA transcript variant 6 NR_134532.2:n.79G>T N/A Non Coding Transcript Variant
TBATA transcript variant 7 NR_134533.2:n.79G>T N/A Non Coding Transcript Variant
TBATA transcript variant 9 NR_165441.1:n.472G>T N/A Non Coding Transcript Variant
TBATA transcript variant X1 XM_017015845.2:c.106G>T G [GGG] > W [TGG] Coding Sequence Variant
protein TBATA isoform X1 XP_016871334.1:p.Gly36Trp G (Gly) > W (Trp) Missense Variant
TBATA transcript variant X2 XM_017015846.2:c.106G>T G [GGG] > W [TGG] Coding Sequence Variant
protein TBATA isoform X2 XP_016871335.1:p.Gly36Trp G (Gly) > W (Trp) Missense Variant
TBATA transcript variant X3 XM_017015847.2:c.106G>T G [GGG] > W [TGG] Coding Sequence Variant
protein TBATA isoform X3 XP_016871336.1:p.Gly36Trp G (Gly) > W (Trp) Missense Variant
TBATA transcript variant X4 XM_017015848.2:c.106G>T G [GGG] > W [TGG] Coding Sequence Variant
protein TBATA isoform X4 XP_016871337.1:p.Gly36Trp G (Gly) > W (Trp) Missense Variant
TBATA transcript variant X5 XM_017015849.2:c.106G>T G [GGG] > W [TGG] Coding Sequence Variant
protein TBATA isoform X5 XP_016871338.1:p.Gly36Trp G (Gly) > W (Trp) Missense Variant
TBATA transcript variant X6 XM_017015850.2:c.106G>T G [GGG] > W [TGG] Coding Sequence Variant
protein TBATA isoform X6 XP_016871339.1:p.Gly36Trp G (Gly) > W (Trp) Missense Variant
TBATA transcript variant X7 XM_017015851.2:c.106G>T G [GGG] > W [TGG] Coding Sequence Variant
protein TBATA isoform X7 XP_016871340.1:p.Gly36Trp G (Gly) > W (Trp) Missense Variant
TBATA transcript variant X8 XM_017015852.2:c.106G>T G [GGG] > W [TGG] Coding Sequence Variant
protein TBATA isoform X8 XP_016871341.1:p.Gly36Trp G (Gly) > W (Trp) Missense Variant
TBATA transcript variant X9 XM_017015853.2:c.106G>T G [GGG] > W [TGG] Coding Sequence Variant
protein TBATA isoform X9 XP_016871342.1:p.Gly36Trp G (Gly) > W (Trp) Missense Variant
TBATA transcript variant X10 XM_017015854.2:c.106G>T G [GGG] > W [TGG] Coding Sequence Variant
protein TBATA isoform X10 XP_016871343.1:p.Gly36Trp G (Gly) > W (Trp) Missense Variant
TBATA transcript variant X11 XM_017015855.2:c.106G>T G [GGG] > W [TGG] Coding Sequence Variant
protein TBATA isoform X11 XP_016871344.1:p.Gly36Trp G (Gly) > W (Trp) Missense Variant
TBATA transcript variant X12 XM_017015856.2:c.106G>T G [GGG] > W [TGG] Coding Sequence Variant
protein TBATA isoform X12 XP_016871345.1:p.Gly36Trp G (Gly) > W (Trp) Missense Variant
TBATA transcript variant X13 XM_017015857.2:c.106G>T G [GGG] > W [TGG] Coding Sequence Variant
protein TBATA isoform X13 XP_016871346.1:p.Gly36Trp G (Gly) > W (Trp) Missense Variant
TBATA transcript variant X14 XM_047424720.1:c.106G>T G [GGG] > W [TGG] Coding Sequence Variant
protein TBATA isoform X14 XP_047280676.1:p.Gly36Trp G (Gly) > W (Trp) Missense Variant
TBATA transcript variant X15 XM_017015858.2:c.106G>T G [GGG] > W [TGG] Coding Sequence Variant
protein TBATA isoform X14 XP_016871347.1:p.Gly36Trp G (Gly) > W (Trp) Missense Variant
TBATA transcript variant X16 XM_017015859.3:c.106G>T G [GGG] > W [TGG] Coding Sequence Variant
protein TBATA isoform X14 XP_016871348.1:p.Gly36Trp G (Gly) > W (Trp) Missense Variant
TBATA transcript variant X17 XM_017015860.2:c.106G>T G [GGG] > W [TGG] Coding Sequence Variant
protein TBATA isoform X15 XP_016871349.1:p.Gly36Trp G (Gly) > W (Trp) Missense Variant
TBATA transcript variant X18 XM_047424721.1:c.106G>T G [GGG] > W [TGG] Coding Sequence Variant
protein TBATA isoform X16 XP_047280677.1:p.Gly36Trp G (Gly) > W (Trp) Missense Variant
TBATA transcript variant X19 XM_017015861.3:c.106G>T G [GGG] > W [TGG] Coding Sequence Variant
protein TBATA isoform X17 XP_016871350.1:p.Gly36Trp G (Gly) > W (Trp) Missense Variant
TBATA transcript variant X20 XM_047424722.1:c.106G>T G [GGG] > W [TGG] Coding Sequence Variant
protein TBATA isoform X18 XP_047280678.1:p.Gly36Trp G (Gly) > W (Trp) Missense Variant
TBATA transcript variant X21 XM_017015862.2:c.106G>T G [GGG] > W [TGG] Coding Sequence Variant
protein TBATA isoform X19 XP_016871351.1:p.Gly36Trp G (Gly) > W (Trp) Missense Variant
TBATA transcript variant X22 XR_001747058.2:n.472G>T N/A Non Coding Transcript 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 C= A
GRCh38.p14 chr 10 NC_000010.11:g.70781972= NC_000010.11:g.70781972C>A
GRCh37.p13 chr 10 NC_000010.10:g.72541728= NC_000010.10:g.72541728C>A
TBATA transcript variant 2 NM_152710.4:c.106= NM_152710.4:c.106G>T
TBATA transcript variant 2 NM_152710.3:c.106= NM_152710.3:c.106G>T
TBATA transcript NM_152710.2:c.106= NM_152710.2:c.106G>T
TBATA transcript variant X16 XM_017015859.3:c.106= XM_017015859.3:c.106G>T
TBATA transcript variant X17 XM_017015859.2:c.106= XM_017015859.2:c.106G>T
TBATA transcript variant X17 XM_017015859.1:c.106= XM_017015859.1:c.106G>T
TBATA transcript variant X19 XM_017015861.3:c.106= XM_017015861.3:c.106G>T
TBATA transcript variant X21 XM_017015861.2:c.106= XM_017015861.2:c.106G>T
TBATA transcript variant X21 XM_017015861.1:c.106= XM_017015861.1:c.106G>T
TBATA transcript variant X1 XM_017015845.2:c.106= XM_017015845.2:c.106G>T
TBATA transcript variant X1 XM_017015845.1:c.106= XM_017015845.1:c.106G>T
TBATA transcript variant X2 XM_017015846.2:c.106= XM_017015846.2:c.106G>T
TBATA transcript variant X2 XM_017015846.1:c.106= XM_017015846.1:c.106G>T
TBATA transcript variant X3 XM_017015847.2:c.106= XM_017015847.2:c.106G>T
TBATA transcript variant X3 XM_017015847.1:c.106= XM_017015847.1:c.106G>T
TBATA transcript variant X12 XM_017015856.2:c.106= XM_017015856.2:c.106G>T
TBATA transcript variant X12 XM_017015856.1:c.106= XM_017015856.1:c.106G>T
TBATA transcript variant X5 XM_017015849.2:c.106= XM_017015849.2:c.106G>T
TBATA transcript variant X5 XM_017015849.1:c.106= XM_017015849.1:c.106G>T
TBATA transcript variant X4 XM_017015848.2:c.106= XM_017015848.2:c.106G>T
TBATA transcript variant X4 XM_017015848.1:c.106= XM_017015848.1:c.106G>T
TBATA transcript variant X15 XM_017015858.2:c.106= XM_017015858.2:c.106G>T
TBATA transcript variant X16 XM_017015858.1:c.106= XM_017015858.1:c.106G>T
TBATA transcript variant X9 XM_017015853.2:c.106= XM_017015853.2:c.106G>T
TBATA transcript variant X9 XM_017015853.1:c.106= XM_017015853.1:c.106G>T
TBATA transcript variant X6 XM_017015850.2:c.106= XM_017015850.2:c.106G>T
TBATA transcript variant X6 XM_017015850.1:c.106= XM_017015850.1:c.106G>T
TBATA transcript variant X7 XM_017015851.2:c.106= XM_017015851.2:c.106G>T
TBATA transcript variant X7 XM_017015851.1:c.106= XM_017015851.1:c.106G>T
TBATA transcript variant 3 NM_001318242.2:c.106= NM_001318242.2:c.106G>T
TBATA transcript variant 3 NM_001318242.1:c.106= NM_001318242.1:c.106G>T
TBATA transcript variant X10 XM_017015854.2:c.106= XM_017015854.2:c.106G>T
TBATA transcript variant X10 XM_017015854.1:c.106= XM_017015854.1:c.106G>T
TBATA transcript variant X8 XM_017015852.2:c.106= XM_017015852.2:c.106G>T
TBATA transcript variant X8 XM_017015852.1:c.106= XM_017015852.1:c.106G>T
TBATA transcript variant X11 XM_017015855.2:c.106= XM_017015855.2:c.106G>T
TBATA transcript variant X11 XM_017015855.1:c.106= XM_017015855.1:c.106G>T
TBATA transcript variant 1 NM_001318241.2:c.106= NM_001318241.2:c.106G>T
TBATA transcript variant 1 NM_001318241.1:c.106= NM_001318241.1:c.106G>T
TBATA transcript variant 4 NM_001318243.2:c.106= NM_001318243.2:c.106G>T
TBATA transcript variant 4 NM_001318243.1:c.106= NM_001318243.1:c.106G>T
TBATA transcript variant X13 XM_017015857.2:c.106= XM_017015857.2:c.106G>T
TBATA transcript variant X13 XM_017015857.1:c.106= XM_017015857.1:c.106G>T
TBATA transcript variant 5 NR_134531.2:n.472= NR_134531.2:n.472G>T
TBATA transcript variant 5 NR_134531.1:n.514= NR_134531.1:n.514G>T
TBATA transcript variant X17 XM_017015860.2:c.106= XM_017015860.2:c.106G>T
TBATA transcript variant X18 XM_017015860.1:c.106= XM_017015860.1:c.106G>T
TBATA transcript variant 6 NR_134532.2:n.79= NR_134532.2:n.79G>T
TBATA transcript variant 6 NR_134532.1:n.286= NR_134532.1:n.286G>T
TBATA transcript variant X22 XR_001747058.2:n.472= XR_001747058.2:n.472G>T
TBATA transcript variant X24 XR_001747058.1:n.496= XR_001747058.1:n.496G>T
TBATA transcript variant X21 XM_017015862.2:c.106= XM_017015862.2:c.106G>T
TBATA transcript variant X23 XM_017015862.1:c.106= XM_017015862.1:c.106G>T
TBATA transcript variant 7 NR_134533.2:n.79= NR_134533.2:n.79G>T
TBATA transcript variant 7 NR_134533.1:n.286= NR_134533.1:n.286G>T
TBATA transcript variant 8 NR_134534.2:n.79= NR_134534.2:n.79G>T
TBATA transcript variant 8 NR_134534.1:n.286= NR_134534.1:n.286G>T
TBATA transcript variant X14 XM_047424720.1:c.106= XM_047424720.1:c.106G>T
TBATA transcript variant X18 XM_047424721.1:c.106= XM_047424721.1:c.106G>T
TBATA transcript variant 9 NR_165441.1:n.472= NR_165441.1:n.472G>T
TBATA transcript variant X20 XM_047424722.1:c.106= XM_047424722.1:c.106G>T
protein TBATA isoform b NP_689923.3:p.Gly36= NP_689923.3:p.Gly36Trp
protein TBATA isoform X14 XP_016871348.1:p.Gly36= XP_016871348.1:p.Gly36Trp
protein TBATA isoform X17 XP_016871350.1:p.Gly36= XP_016871350.1:p.Gly36Trp
protein TBATA isoform X1 XP_016871334.1:p.Gly36= XP_016871334.1:p.Gly36Trp
protein TBATA isoform X2 XP_016871335.1:p.Gly36= XP_016871335.1:p.Gly36Trp
protein TBATA isoform X3 XP_016871336.1:p.Gly36= XP_016871336.1:p.Gly36Trp
protein TBATA isoform X12 XP_016871345.1:p.Gly36= XP_016871345.1:p.Gly36Trp
protein TBATA isoform X5 XP_016871338.1:p.Gly36= XP_016871338.1:p.Gly36Trp
protein TBATA isoform X4 XP_016871337.1:p.Gly36= XP_016871337.1:p.Gly36Trp
protein TBATA isoform X14 XP_016871347.1:p.Gly36= XP_016871347.1:p.Gly36Trp
protein TBATA isoform X9 XP_016871342.1:p.Gly36= XP_016871342.1:p.Gly36Trp
protein TBATA isoform X6 XP_016871339.1:p.Gly36= XP_016871339.1:p.Gly36Trp
protein TBATA isoform X7 XP_016871340.1:p.Gly36= XP_016871340.1:p.Gly36Trp
protein TBATA isoform b NP_001305171.1:p.Gly36= NP_001305171.1:p.Gly36Trp
protein TBATA isoform X10 XP_016871343.1:p.Gly36= XP_016871343.1:p.Gly36Trp
protein TBATA isoform X8 XP_016871341.1:p.Gly36= XP_016871341.1:p.Gly36Trp
protein TBATA isoform X11 XP_016871344.1:p.Gly36= XP_016871344.1:p.Gly36Trp
protein TBATA isoform a NP_001305170.1:p.Gly36= NP_001305170.1:p.Gly36Trp
protein TBATA isoform c NP_001305172.1:p.Gly36= NP_001305172.1:p.Gly36Trp
protein TBATA isoform X13 XP_016871346.1:p.Gly36= XP_016871346.1:p.Gly36Trp
protein TBATA isoform X15 XP_016871349.1:p.Gly36= XP_016871349.1:p.Gly36Trp
protein TBATA isoform X19 XP_016871351.1:p.Gly36= XP_016871351.1:p.Gly36Trp
protein TBATA isoform X14 XP_047280676.1:p.Gly36= XP_047280676.1:p.Gly36Trp
protein TBATA isoform X16 XP_047280677.1:p.Gly36= XP_047280677.1:p.Gly36Trp
protein TBATA isoform X18 XP_047280678.1:p.Gly36= XP_047280678.1:p.Gly36Trp
protein TBATA NP_689923.2:p.Gly36= NP_689923.2:p.Gly36Trp
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#.

3 SubSNP, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2748407650 Nov 08, 2017 (151)
2 GNOMAD ss2890234301 Nov 08, 2017 (151)
3 TOPMED ss4856851227 Apr 26, 2021 (155)
4 gnomAD - Genomes NC_000010.11 - 70781972 Apr 26, 2021 (155)
5 TopMed NC_000010.11 - 70781972 Apr 26, 2021 (155)
6 ALFA NC_000010.11 - 70781972 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss2748407650, ss2890234301 NC_000010.10:72541727:C:A NC_000010.11:70781971:C:A (self)
355925513, 72396882, 10448179405, ss4856851227 NC_000010.11:70781971:C:A NC_000010.11:70781971:C:A (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 rs1438728385

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