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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.

rs3088074

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chrX:77682471 (GRCh38.p13) 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>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.496264 (131356/264690, TOPMED)
C=0.491159 (50416/102647, GnomAD)
C=0.33963 (31578/92978, ALFA)
Clinical Significance
Reported in ClinVar
Gene : Consequence
ATRX : Missense Variant
Publications
2 citations
Genomic View
See rs on genome
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.p13 chr X NC_000023.11:g.77682471C>G
GRCh38.p13 chr X NC_000023.11:g.77682471C>T
GRCh37.p13 chr X fix patch HG1426_PATCH NW_003871101.3:g.239733C>G
GRCh37.p13 chr X fix patch HG1426_PATCH NW_003871101.3:g.239733C>T
ATRX RefSeqGene (LRG_1153) NG_008838.3:g.108799G>C
ATRX RefSeqGene (LRG_1153) NG_008838.3:g.108799G>A
GRCh37.p13 chr X NC_000023.10:g.76937963G>C
GRCh37.p13 chr X NC_000023.10:g.76937963G>T
Gene: ATRX, ATRX chromatin remodeler (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ATRX transcript variant 1 NM_000489.6:c.2785G>C E [GAG] > Q [CAG] Coding Sequence Variant
transcriptional regulator ATRX isoform 1 NP_000480.3:p.Glu929Gln E (Glu) > Q (Gln) Missense Variant
ATRX transcript variant 1 NM_000489.6:c.2785G>A E [GAG] > K [AAG] Coding Sequence Variant
transcriptional regulator ATRX isoform 1 NP_000480.3:p.Glu929Lys E (Glu) > K (Lys) Missense Variant
ATRX transcript variant 2 NM_138270.5:c.2671G>C E [GAG] > Q [CAG] Coding Sequence Variant
transcriptional regulator ATRX isoform 2 NP_612114.2:p.Glu891Gln E (Glu) > Q (Gln) Missense Variant
ATRX transcript variant 2 NM_138270.5:c.2671G>A E [GAG] > K [AAG] Coding Sequence Variant
transcriptional regulator ATRX isoform 2 NP_612114.2:p.Glu891Lys E (Glu) > K (Lys) Missense Variant
ATRX transcript variant X4 XM_005262155.4:c.2668G>C E [GAG] > Q [CAG] Coding Sequence Variant
transcriptional regulator ATRX isoform X4 XP_005262212.2:p.Glu890Gln E (Glu) > Q (Gln) Missense Variant
ATRX transcript variant X4 XM_005262155.4:c.2668G>A E [GAG] > K [AAG] Coding Sequence Variant
transcriptional regulator ATRX isoform X4 XP_005262212.2:p.Glu890Lys E (Glu) > K (Lys) Missense Variant
ATRX transcript variant X6 XM_017029602.1:c.2665G>C E [GAG] > Q [CAG] Coding Sequence Variant
transcriptional regulator ATRX isoform X6 XP_016885091.1:p.Glu889Gln E (Glu) > Q (Gln) Missense Variant
ATRX transcript variant X6 XM_017029602.1:c.2665G>A E [GAG] > K [AAG] Coding Sequence Variant
transcriptional regulator ATRX isoform X6 XP_016885091.1:p.Glu889Lys E (Glu) > K (Lys) Missense Variant
ATRX transcript variant X8 XM_005262156.4:c.2620G>C E [GAG] > Q [CAG] Coding Sequence Variant
transcriptional regulator ATRX isoform X8 XP_005262213.2:p.Glu874Gln E (Glu) > Q (Gln) Missense Variant
ATRX transcript variant X8 XM_005262156.4:c.2620G>A E [GAG] > K [AAG] Coding Sequence Variant
transcriptional regulator ATRX isoform X8 XP_005262213.2:p.Glu874Lys E (Glu) > K (Lys) Missense Variant
ATRX transcript variant X7 XM_017029603.1:c.2617G>C E [GAG] > Q [CAG] Coding Sequence Variant
transcriptional regulator ATRX isoform X7 XP_016885092.1:p.Glu873Gln E (Glu) > Q (Gln) Missense Variant
ATRX transcript variant X7 XM_017029603.1:c.2617G>A E [GAG] > K [AAG] Coding Sequence Variant
transcriptional regulator ATRX isoform X7 XP_016885092.1:p.Glu873Lys E (Glu) > K (Lys) Missense Variant
ATRX transcript variant X10 XM_017029605.1:c.2581G>C E [GAG] > Q [CAG] Coding Sequence Variant
transcriptional regulator ATRX isoform X10 XP_016885094.1:p.Glu861Gln E (Glu) > Q (Gln) Missense Variant
ATRX transcript variant X10 XM_017029605.1:c.2581G>A E [GAG] > K [AAG] Coding Sequence Variant
transcriptional regulator ATRX isoform X10 XP_016885094.1:p.Glu861Lys E (Glu) > K (Lys) Missense Variant
ATRX transcript variant X14 XM_006724667.3:c.2506G>C E [GAG] > Q [CAG] Coding Sequence Variant
transcriptional regulator ATRX isoform X14 XP_006724730.1:p.Glu836Gln E (Glu) > Q (Gln) Missense Variant
ATRX transcript variant X14 XM_006724667.3:c.2506G>A E [GAG] > K [AAG] Coding Sequence Variant
transcriptional regulator ATRX isoform X14 XP_006724730.1:p.Glu836Lys E (Glu) > K (Lys) Missense Variant
ATRX transcript variant X16 XM_017029609.1:c.2467G>C E [GAG] > Q [CAG] Coding Sequence Variant
transcriptional regulator ATRX isoform X16 XP_016885098.1:p.Glu823Gln E (Glu) > Q (Gln) Missense Variant
ATRX transcript variant X16 XM_017029609.1:c.2467G>A E [GAG] > K [AAG] Coding Sequence Variant
transcriptional regulator ATRX isoform X16 XP_016885098.1:p.Glu823Lys E (Glu) > K (Lys) Missense Variant
ATRX transcript variant X17 XM_017029610.1:c.2464G>C E [GAG] > Q [CAG] Coding Sequence Variant
transcriptional regulator ATRX isoform X17 XP_016885099.1:p.Glu822Gln E (Glu) > Q (Gln) Missense Variant
ATRX transcript variant X17 XM_017029610.1:c.2464G>A E [GAG] > K [AAG] Coding Sequence Variant
transcriptional regulator ATRX isoform X17 XP_016885099.1:p.Glu822Lys E (Glu) > K (Lys) Missense Variant
ATRX transcript variant X18 XM_017029611.1:c.2419G>C E [GAG] > Q [CAG] Coding Sequence Variant
transcriptional regulator ATRX isoform X18 XP_016885100.1:p.Glu807Gln E (Glu) > Q (Gln) Missense Variant
ATRX transcript variant X18 XM_017029611.1:c.2419G>A E [GAG] > K [AAG] Coding Sequence Variant
transcriptional regulator ATRX isoform X18 XP_016885100.1:p.Glu807Lys E (Glu) > K (Lys) Missense Variant
ATRX transcript variant X1 XM_005262153.5:c.2782G>C E [GAG] > Q [CAG] Coding Sequence Variant
transcriptional regulator ATRX isoform X1 XP_005262210.2:p.Glu928Gln E (Glu) > Q (Gln) Missense Variant
ATRX transcript variant X1 XM_005262153.5:c.2782G>A E [GAG] > K [AAG] Coding Sequence Variant
transcriptional regulator ATRX isoform X1 XP_005262210.2:p.Glu928Lys E (Glu) > K (Lys) Missense Variant
ATRX transcript variant X2 XM_005262154.5:c.2698G>C E [GAG] > Q [CAG] Coding Sequence Variant
transcriptional regulator ATRX isoform X2 XP_005262211.2:p.Glu900Gln E (Glu) > Q (Gln) Missense Variant
ATRX transcript variant X2 XM_005262154.5:c.2698G>A E [GAG] > K [AAG] Coding Sequence Variant
transcriptional regulator ATRX isoform X2 XP_005262211.2:p.Glu900Lys E (Glu) > K (Lys) Missense Variant
ATRX transcript variant X3 XM_017029601.2:c.2695G>C E [GAG] > Q [CAG] Coding Sequence Variant
transcriptional regulator ATRX isoform X3 XP_016885090.1:p.Glu899Gln E (Glu) > Q (Gln) Missense Variant
ATRX transcript variant X3 XM_017029601.2:c.2695G>A E [GAG] > K [AAG] Coding Sequence Variant
transcriptional regulator ATRX isoform X3 XP_016885090.1:p.Glu899Lys E (Glu) > K (Lys) Missense Variant
ATRX transcript variant X5 XM_006724666.4:c.2668G>C E [GAG] > Q [CAG] Coding Sequence Variant
transcriptional regulator ATRX isoform X5 XP_006724729.1:p.Glu890Gln E (Glu) > Q (Gln) Missense Variant
ATRX transcript variant X5 XM_006724666.4:c.2668G>A E [GAG] > K [AAG] Coding Sequence Variant
transcriptional regulator ATRX isoform X5 XP_006724729.1:p.Glu890Lys E (Glu) > K (Lys) Missense Variant
ATRX transcript variant X9 XM_017029604.2:c.2584G>C E [GAG] > Q [CAG] Coding Sequence Variant
transcriptional regulator ATRX isoform X9 XP_016885093.1:p.Glu862Gln E (Glu) > Q (Gln) Missense Variant
ATRX transcript variant X9 XM_017029604.2:c.2584G>A E [GAG] > K [AAG] Coding Sequence Variant
transcriptional regulator ATRX isoform X9 XP_016885093.1:p.Glu862Lys E (Glu) > K (Lys) Missense Variant
ATRX transcript variant X11 XM_005262157.5:c.2581G>C E [GAG] > Q [CAG] Coding Sequence Variant
transcriptional regulator ATRX isoform X11 XP_005262214.2:p.Glu861Gln E (Glu) > Q (Gln) Missense Variant
ATRX transcript variant X11 XM_005262157.5:c.2581G>A E [GAG] > K [AAG] Coding Sequence Variant
transcriptional regulator ATRX isoform X11 XP_005262214.2:p.Glu861Lys E (Glu) > K (Lys) Missense Variant
ATRX transcript variant X12 XM_017029606.2:c.2554G>C E [GAG] > Q [CAG] Coding Sequence Variant
transcriptional regulator ATRX isoform X12 XP_016885095.1:p.Glu852Gln E (Glu) > Q (Gln) Missense Variant
ATRX transcript variant X12 XM_017029606.2:c.2554G>A E [GAG] > K [AAG] Coding Sequence Variant
transcriptional regulator ATRX isoform X12 XP_016885095.1:p.Glu852Lys E (Glu) > K (Lys) Missense Variant
ATRX transcript variant X13 XM_017029607.2:c.2551G>C E [GAG] > Q [CAG] Coding Sequence Variant
transcriptional regulator ATRX isoform X13 XP_016885096.1:p.Glu851Gln E (Glu) > Q (Gln) Missense Variant
ATRX transcript variant X13 XM_017029607.2:c.2551G>A E [GAG] > K [AAG] Coding Sequence Variant
transcriptional regulator ATRX isoform X13 XP_016885096.1:p.Glu851Lys E (Glu) > K (Lys) Missense Variant
ATRX transcript variant X15 XM_017029608.2:c.2503G>C E [GAG] > Q [CAG] Coding Sequence Variant
transcriptional regulator ATRX isoform X15 XP_016885097.1:p.Glu835Gln E (Glu) > Q (Gln) Missense Variant
ATRX transcript variant X15 XM_017029608.2:c.2503G>A E [GAG] > K [AAG] Coding Sequence Variant
transcriptional regulator ATRX isoform X15 XP_016885097.1:p.Glu835Lys E (Glu) > K (Lys) Missense Variant
ATRX transcript variant X20 XM_006724668.3:c.2785G>C E [GAG] > Q [CAG] Coding Sequence Variant
transcriptional regulator ATRX isoform X19 XP_006724731.1:p.Glu929Gln E (Glu) > Q (Gln) Missense Variant
ATRX transcript variant X20 XM_006724668.3:c.2785G>A E [GAG] > K [AAG] Coding Sequence Variant
transcriptional regulator ATRX isoform X19 XP_006724731.1:p.Glu929Lys E (Glu) > K (Lys) Missense Variant
ATRX transcript variant X19 XR_001755700.2:n.3010G>C N/A Non Coding Transcript Variant
ATRX transcript variant X19 XR_001755700.2:n.3010G>A 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.

Allele: C= (allele ID: 99042 )
ClinVar Accession Disease Names Clinical Significance
RCV000078959.11 not specified Benign
RCV000710717.1 not provided Benign
RCV000715048.1 History of neurodevelopmental disorder Benign
Allele: G (allele ID: 243824 )
ClinVar Accession Disease Names Clinical Significance
RCV000227525.6 Alpha thalassemia-X-linked intellectual disability syndrome Benign

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 92978 C=0.33963 G=0.66037
European Sub 79934 C=0.30744 G=0.69256
African Sub 4306 C=0.8135 G=0.1865
African Others Sub 174 C=0.914 G=0.086
African American Sub 4132 C=0.8093 G=0.1907
Asian Sub 3326 C=0.4612 G=0.5388
East Asian Sub 2672 C=0.4809 G=0.5191
Other Asian Sub 654 C=0.381 G=0.619
Latin American 1 Sub 436 C=0.411 G=0.589
Latin American 2 Sub 928 C=0.266 G=0.734
South Asian Sub 274 C=0.518 G=0.482
Other Sub 3774 C=0.3704 G=0.6296


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=0.496264 G=0.503736
gnomAD - Genomes Global Study-wide 102647 C=0.491159 G=0.508841
gnomAD - Genomes European Sub 56291 C=0.31552 G=0.68448
gnomAD - Genomes African Sub 31054 C=0.86437 G=0.13563
gnomAD - Genomes American Sub 9110 C=0.3689 G=0.6311
gnomAD - Genomes Ashkenazi Jewish Sub 2486 C=0.2912 G=0.7088
gnomAD - Genomes East Asian Sub 2167 C=0.4675 G=0.5325
gnomAD - Genomes Other Sub 1539 C=0.4646 G=0.5354
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= G T
GRCh38.p13 chr X NC_000023.11:g.77682471= NC_000023.11:g.77682471C>G NC_000023.11:g.77682471C>T
GRCh37.p13 chr X fix patch HG1426_PATCH NW_003871101.3:g.239733= NW_003871101.3:g.239733C>G NW_003871101.3:g.239733C>T
ATRX RefSeqGene (LRG_1153) NG_008838.3:g.108799= NG_008838.3:g.108799G>C NG_008838.3:g.108799G>A
ATRX transcript variant 1 NM_000489.6:c.2785= NM_000489.6:c.2785G>C NM_000489.6:c.2785G>A
ATRX transcript variant 1 NM_000489.5:c.2785= NM_000489.5:c.2785G>C NM_000489.5:c.2785G>A
ATRX transcript variant 1 NM_000489.4:c.2785= NM_000489.4:c.2785G>C NM_000489.4:c.2785G>A
ATRX transcript variant 1 NM_000489.3:c.2785C>G NM_000489.3:c.2785= NM_000489.3:c.2785C>A
ATRX transcript variant 2 NM_138270.5:c.2671= NM_138270.5:c.2671G>C NM_138270.5:c.2671G>A
ATRX transcript variant 2 NM_138270.4:c.2671= NM_138270.4:c.2671G>C NM_138270.4:c.2671G>A
ATRX transcript variant 2 NM_138270.3:c.2671= NM_138270.3:c.2671G>C NM_138270.3:c.2671G>A
ATRX transcript variant 2 NM_138270.2:c.2671C>G NM_138270.2:c.2671= NM_138270.2:c.2671C>A
GRCh37.p13 chr X NC_000023.10:g.76937963G>C NC_000023.10:g.76937963= NC_000023.10:g.76937963G>T
ATRX transcript variant X1 XM_005262153.5:c.2782= XM_005262153.5:c.2782G>C XM_005262153.5:c.2782G>A
ATRX transcript variant X1 XM_005262153.1:c.2782C>G XM_005262153.1:c.2782= XM_005262153.1:c.2782C>A
ATRX transcript variant X2 XM_005262154.5:c.2698= XM_005262154.5:c.2698G>C XM_005262154.5:c.2698G>A
ATRX transcript variant X2 XM_005262154.1:c.2698C>G XM_005262154.1:c.2698= XM_005262154.1:c.2698C>A
ATRX transcript variant X11 XM_005262157.5:c.2581= XM_005262157.5:c.2581G>C XM_005262157.5:c.2581G>A
ATRX transcript variant X5 XM_005262157.1:c.2581C>G XM_005262157.1:c.2581= XM_005262157.1:c.2581C>A
ATRX transcript variant X4 XM_005262155.4:c.2668= XM_005262155.4:c.2668G>C XM_005262155.4:c.2668G>A
ATRX transcript variant X3 XM_005262155.1:c.2668C>G XM_005262155.1:c.2668= XM_005262155.1:c.2668C>A
ATRX transcript variant X8 XM_005262156.4:c.2620= XM_005262156.4:c.2620G>C XM_005262156.4:c.2620G>A
ATRX transcript variant X4 XM_005262156.1:c.2620C>G XM_005262156.1:c.2620= XM_005262156.1:c.2620C>A
ATRX transcript variant X5 XM_006724666.4:c.2668= XM_006724666.4:c.2668G>C XM_006724666.4:c.2668G>A
ATRX transcript variant X14 XM_006724667.3:c.2506= XM_006724667.3:c.2506G>C XM_006724667.3:c.2506G>A
ATRX transcript variant X20 XM_006724668.3:c.2785= XM_006724668.3:c.2785G>C XM_006724668.3:c.2785G>A
ATRX transcript variant X19 XR_001755700.2:n.3010= XR_001755700.2:n.3010G>C XR_001755700.2:n.3010G>A
ATRX transcript variant X12 XM_017029606.2:c.2554= XM_017029606.2:c.2554G>C XM_017029606.2:c.2554G>A
ATRX transcript variant X13 XM_017029607.2:c.2551= XM_017029607.2:c.2551G>C XM_017029607.2:c.2551G>A
ATRX transcript variant X3 XM_017029601.2:c.2695= XM_017029601.2:c.2695G>C XM_017029601.2:c.2695G>A
ATRX transcript variant X9 XM_017029604.2:c.2584= XM_017029604.2:c.2584G>C XM_017029604.2:c.2584G>A
ATRX transcript variant X15 XM_017029608.2:c.2503= XM_017029608.2:c.2503G>C XM_017029608.2:c.2503G>A
ATRX transcript variant X6 XM_017029602.1:c.2665= XM_017029602.1:c.2665G>C XM_017029602.1:c.2665G>A
ATRX transcript variant 3 NM_138271.1:c.2173C>G NM_138271.1:c.2173= NM_138271.1:c.2173C>A
ATRX transcript variant X10 XM_017029605.1:c.2581= XM_017029605.1:c.2581G>C XM_017029605.1:c.2581G>A
ATRX transcript variant X16 XM_017029609.1:c.2467= XM_017029609.1:c.2467G>C XM_017029609.1:c.2467G>A
ATRX transcript variant X17 XM_017029610.1:c.2464= XM_017029610.1:c.2464G>C XM_017029610.1:c.2464G>A
ATRX transcript variant X7 XM_017029603.1:c.2617= XM_017029603.1:c.2617G>C XM_017029603.1:c.2617G>A
ATRX transcript variant X18 XM_017029611.1:c.2419= XM_017029611.1:c.2419G>C XM_017029611.1:c.2419G>A
transcriptional regulator ATRX isoform 1 NP_000480.3:p.Glu929= NP_000480.3:p.Glu929Gln NP_000480.3:p.Glu929Lys
transcriptional regulator ATRX isoform 2 NP_612114.2:p.Glu891= NP_612114.2:p.Glu891Gln NP_612114.2:p.Glu891Lys
transcriptional regulator ATRX isoform X1 XP_005262210.2:p.Glu928= XP_005262210.2:p.Glu928Gln XP_005262210.2:p.Glu928Lys
transcriptional regulator ATRX isoform X2 XP_005262211.2:p.Glu900= XP_005262211.2:p.Glu900Gln XP_005262211.2:p.Glu900Lys
transcriptional regulator ATRX isoform X11 XP_005262214.2:p.Glu861= XP_005262214.2:p.Glu861Gln XP_005262214.2:p.Glu861Lys
transcriptional regulator ATRX isoform X4 XP_005262212.2:p.Glu890= XP_005262212.2:p.Glu890Gln XP_005262212.2:p.Glu890Lys
transcriptional regulator ATRX isoform X8 XP_005262213.2:p.Glu874= XP_005262213.2:p.Glu874Gln XP_005262213.2:p.Glu874Lys
transcriptional regulator ATRX isoform X5 XP_006724729.1:p.Glu890= XP_006724729.1:p.Glu890Gln XP_006724729.1:p.Glu890Lys
transcriptional regulator ATRX isoform X14 XP_006724730.1:p.Glu836= XP_006724730.1:p.Glu836Gln XP_006724730.1:p.Glu836Lys
transcriptional regulator ATRX isoform X19 XP_006724731.1:p.Glu929= XP_006724731.1:p.Glu929Gln XP_006724731.1:p.Glu929Lys
transcriptional regulator ATRX isoform X12 XP_016885095.1:p.Glu852= XP_016885095.1:p.Glu852Gln XP_016885095.1:p.Glu852Lys
transcriptional regulator ATRX isoform X13 XP_016885096.1:p.Glu851= XP_016885096.1:p.Glu851Gln XP_016885096.1:p.Glu851Lys
transcriptional regulator ATRX isoform X3 XP_016885090.1:p.Glu899= XP_016885090.1:p.Glu899Gln XP_016885090.1:p.Glu899Lys
transcriptional regulator ATRX isoform X9 XP_016885093.1:p.Glu862= XP_016885093.1:p.Glu862Gln XP_016885093.1:p.Glu862Lys
transcriptional regulator ATRX isoform X15 XP_016885097.1:p.Glu835= XP_016885097.1:p.Glu835Gln XP_016885097.1:p.Glu835Lys
transcriptional regulator ATRX isoform X6 XP_016885091.1:p.Glu889= XP_016885091.1:p.Glu889Gln XP_016885091.1:p.Glu889Lys
transcriptional regulator ATRX isoform X10 XP_016885094.1:p.Glu861= XP_016885094.1:p.Glu861Gln XP_016885094.1:p.Glu861Lys
transcriptional regulator ATRX isoform X16 XP_016885098.1:p.Glu823= XP_016885098.1:p.Glu823Gln XP_016885098.1:p.Glu823Lys
transcriptional regulator ATRX isoform X17 XP_016885099.1:p.Glu822= XP_016885099.1:p.Glu822Gln XP_016885099.1:p.Glu822Lys
transcriptional regulator ATRX isoform X7 XP_016885092.1:p.Glu873= XP_016885092.1:p.Glu873Gln XP_016885092.1:p.Glu873Lys
transcriptional regulator ATRX isoform X18 XP_016885100.1:p.Glu807= XP_016885100.1:p.Glu807Gln XP_016885100.1:p.Glu807Lys
transcriptional regulator ATRX isoform 1 NP_000480.2:p.Gln929Glu NP_000480.2:p.Gln929= NP_000480.2:p.Gln929Lys
transcriptional regulator ATRX isoform 2 NP_612114.1:p.Gln891Glu NP_612114.1:p.Gln891= NP_612114.1:p.Gln891Lys
transcriptional regulator ATRX isoform X1 XP_005262210.1:p.Gln928Glu XP_005262210.1:p.Gln928= XP_005262210.1:p.Gln928Lys
transcriptional regulator ATRX isoform X2 XP_005262211.1:p.Gln900Glu XP_005262211.1:p.Gln900= XP_005262211.1:p.Gln900Lys
transcriptional regulator ATRX isoform X3 XP_005262212.1:p.Gln890Glu XP_005262212.1:p.Gln890= XP_005262212.1:p.Gln890Lys
transcriptional regulator ATRX isoform X4 XP_005262213.1:p.Gln874Glu XP_005262213.1:p.Gln874= XP_005262213.1:p.Gln874Lys
transcriptional regulator ATRX isoform X5 XP_005262214.1:p.Gln861Glu XP_005262214.1:p.Gln861= XP_005262214.1:p.Gln861Lys
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#.

86 SubSNP, 7 Frequency, 4 ClinVar submissions
No Submitter Submission ID Date (Build)
1 CGAP-GAI ss4322340 Jan 05, 2002 (102)
2 LEE ss4417513 May 29, 2002 (106)
3 SC_SNP ss8245952 Apr 21, 2003 (114)
4 SC_SNP ss8505431 Jul 11, 2003 (117)
5 PERLEGEN ss24229628 Sep 20, 2004 (123)
6 SEQUENOM ss24787707 Sep 20, 2004 (123)
7 PERLEGEN ss69262541 May 17, 2007 (127)
8 EGP_SNPS ss69358218 May 17, 2007 (127)
9 CANCER-GENOME ss86347948 Mar 23, 2008 (130)
10 COMPLETE_GENOMICS ss165100229 Jul 04, 2010 (132)
11 COMPLETE_GENOMICS ss166323190 Jul 04, 2010 (132)
12 BUSHMAN ss204275572 Jul 04, 2010 (132)
13 GMI ss283785097 May 04, 2012 (137)
14 PJP ss294464217 May 09, 2011 (134)
15 1000GENOMES ss341570012 May 09, 2011 (134)
16 NHLBI-ESP ss342555932 May 09, 2011 (134)
17 1000GENOMES ss491202064 May 04, 2012 (137)
18 EXOME_CHIP ss491577808 May 04, 2012 (137)
19 ILLUMINA ss535284399 Sep 11, 2015 (146)
20 TISHKOFF ss566910599 Apr 25, 2013 (138)
21 SSMP ss662866587 Apr 25, 2013 (138)
22 ILLUMINA ss780766959 Sep 11, 2015 (146)
23 ILLUMINA ss783446347 Sep 11, 2015 (146)
24 JMKIDD_LAB ss1067610537 Aug 21, 2014 (142)
25 JMKIDD_LAB ss1082971958 Aug 21, 2014 (142)
26 DDI ss1432062323 Apr 09, 2015 (144)
27 1000GENOMES ss1554963852 Apr 09, 2015 (144)
28 EVA_GENOME_DK ss1583421117 Apr 09, 2015 (144)
29 EVA_UK10K_ALSPAC ss1641005684 Apr 09, 2015 (144)
30 EVA_UK10K_TWINSUK ss1683999717 Apr 09, 2015 (144)
31 EVA_EXAC ss1694560478 Apr 09, 2015 (144)
32 EVA_EXAC ss1694560479 Apr 09, 2015 (144)
33 EVA_MGP ss1711584929 Apr 09, 2015 (144)
34 ILLUMINA ss1752811246 Sep 11, 2015 (146)
35 ILLUMINA ss1917718294 Feb 17, 2016 (147)
36 WEILL_CORNELL_DGM ss1939448657 Feb 17, 2016 (147)
37 ILLUMINA ss1945974740 Feb 17, 2016 (147)
38 ILLUMINA ss1958199589 Feb 17, 2016 (147)
39 GENOMED ss1971390815 Sep 28, 2016 (149)
40 CLINVAR ss2019322439 Jul 01, 2016 (147)
41 USC_VALOUEV ss2159107995 Oct 13, 2018 (152)
42 HUMAN_LONGEVITY ss2318265251 Dec 20, 2016 (150)
43 SYSTEMSBIOZJU ss2629720554 Oct 13, 2018 (152)
44 GRF ss2710225488 Oct 13, 2018 (152)
45 GNOMAD ss2745467739 Oct 13, 2018 (152)
46 GNOMAD ss2746121696 Oct 13, 2018 (152)
47 GNOMAD ss2980315204 Oct 13, 2018 (152)
48 AFFY ss2985486599 Oct 13, 2018 (152)
49 AFFY ss2986131668 Oct 13, 2018 (152)
50 SWEGEN ss3020179265 Oct 13, 2018 (152)
51 ILLUMINA ss3023014736 Oct 13, 2018 (152)
52 BIOINF_KMB_FNS_UNIBA ss3029064002 Nov 08, 2017 (151)
53 TOPMED ss3614612009 Nov 08, 2017 (151)
54 ILLUMINA ss3630447049 Oct 13, 2018 (152)
55 ILLUMINA ss3635251617 Oct 13, 2018 (152)
56 ILLUMINA ss3640959098 Oct 13, 2018 (152)
57 ILLUMINA ss3645013751 Oct 13, 2018 (152)
58 OMUKHERJEE_ADBS ss3646573866 Oct 13, 2018 (152)
59 URBANLAB ss3651290543 Oct 13, 2018 (152)
60 ILLUMINA ss3653573009 Oct 13, 2018 (152)
61 ILLUMINA ss3654253414 Oct 13, 2018 (152)
62 ILLUMINA ss3726683736 Jul 13, 2019 (153)
63 ILLUMINA ss3744599696 Jul 13, 2019 (153)
64 ILLUMINA ss3745552020 Jul 13, 2019 (153)
65 EVA ss3770300479 Jul 13, 2019 (153)
66 ILLUMINA ss3773043687 Jul 13, 2019 (153)
67 KHV_HUMAN_GENOMES ss3823096920 Jul 13, 2019 (153)
68 EVA ss3825494269 Apr 27, 2020 (154)
69 EVA ss3836209019 Apr 27, 2020 (154)
70 EVA ss3841711725 Apr 27, 2020 (154)
71 EVA ss3847236906 Apr 27, 2020 (154)
72 SGDP_PRJ ss3891676360 Apr 27, 2020 (154)
73 KRGDB ss3942259535 Apr 27, 2020 (154)
74 FSA-LAB ss3984442225 Apr 27, 2021 (155)
75 EVA ss3984766517 Apr 27, 2021 (155)
76 EVA ss3986089582 Apr 27, 2021 (155)
77 EVA ss3986880625 Apr 27, 2021 (155)
78 GNOMAD ss4374024115 Apr 27, 2021 (155)
79 TOPMED ss5127544011 Apr 27, 2021 (155)
80 TOMMO_GENOMICS ss5235033209 Apr 27, 2021 (155)
81 CPQ_GEN_INCA ss5236855368 Apr 27, 2021 (155)
82 CPQ_GEN_INCA ss5236862108 Apr 27, 2021 (155)
83 CPQ_GEN_INCA ss5236862109 Apr 27, 2021 (155)
84 EVA ss5237056833 Apr 27, 2021 (155)
85 EVA ss5237257623 Apr 27, 2021 (155)
86 EVA ss5237624586 Apr 27, 2021 (155)
87 ExAC

Submission ignored due to conflicting rows:
Row 10065211 (NC_000023.10:76937962:G:C 21401/87654, NC_000023.10:76937962:G:G 66253/87654)
Row 10065212 (NC_000023.10:76937962:G:G 87653/87654, NC_000023.10:76937962:G:T 1/87654)

- Oct 13, 2018 (152)
88 ExAC

Submission ignored due to conflicting rows:
Row 10065211 (NC_000023.10:76937962:G:C 21401/87654, NC_000023.10:76937962:G:G 66253/87654)
Row 10065212 (NC_000023.10:76937962:G:G 87653/87654, NC_000023.10:76937962:G:T 1/87654)

- Oct 13, 2018 (152)
89 gnomAD - Genomes NC_000023.11 - 77682471 Apr 27, 2021 (155)
90 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 14799383 (NC_000023.10:76937962:G:C 68375/182481, NC_000023.10:76937962:G:G 114106/182481)
Row 14799384 (NC_000023.10:76937962:G:G 182480/182481, NC_000023.10:76937962:G:T 1/182481)

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

Submission ignored due to conflicting rows:
Row 14799383 (NC_000023.10:76937962:G:C 68375/182481, NC_000023.10:76937962:G:G 114106/182481)
Row 14799384 (NC_000023.10:76937962:G:G 182480/182481, NC_000023.10:76937962:G:T 1/182481)

- Jul 13, 2019 (153)
92 TopMed NC_000023.11 - 77682471 Apr 27, 2021 (155)
93 ALFA NC_000023.11 - 77682471 Apr 27, 2021 (155)
94 ClinVar RCV000078959.11 Oct 13, 2018 (152)
95 ClinVar RCV000227525.6 Apr 27, 2021 (155)
96 ClinVar RCV000710717.1 Jul 13, 2019 (153)
97 ClinVar RCV000715048.1 Jul 13, 2019 (153)
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)
rs3192074 Jul 03, 2002 (106)
rs6619935 Aug 27, 2003 (117)
rs17139638 Oct 07, 2004 (123)
rs17272202 Oct 07, 2004 (123)
rs61752454 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss165100229, ss166323190, ss204275572, ss283785097, ss294464217 NC_000023.9:76824618:G:G NC_000023.11:77682470:C:G (self)
ss341570012, ss342555932, ss491202064, ss491577808, ss535284399, ss566910599, ss662866587, ss780766959, ss783446347, ss1067610537, ss1082971958, ss1432062323, ss1554963852, ss1583421117, ss1641005684, ss1683999717, ss1694560478, ss1694560479, ss1711584929, ss1752811246, ss1917718294, ss1939448657, ss1945974740, ss1958199589, ss1971390815, ss2159107995, ss2629720554, ss2710225488, ss2745467739, ss2746121696, ss2980315204, ss2985486599, ss2986131668, ss3020179265, ss3023014736, ss3630447049, ss3635251617, ss3640959098, ss3645013751, ss3646573866, ss3653573009, ss3654253414, ss3744599696, ss3745552020, ss3770300479, ss3773043687, ss3825494269, ss3836209019, ss3841711725, ss3891676360, ss3942259535, ss3984442225, ss3984766517, ss3986089582, ss3986880625, ss5235033209, ss5236855368, ss5236862108, ss5236862109, ss5237624586 NC_000023.10:76937962:G:G NC_000023.11:77682470:C:G (self)
RCV000227525.6, 584155082, 431269356, 691150368, 3030413679, ss2019322439, ss2318265251, ss3029064002, ss3614612009, ss3651290543, ss3726683736, ss3823096920, ss3847236906, ss4374024115, ss5127544011, ss5237056833, ss5237257623 NC_000023.11:77682470:C:G NC_000023.11:77682470:C:G (self)
ss8505431 NT_011651.13:184058:G:G NC_000023.11:77682470:C:G (self)
ss4322340, ss4417513, ss8245952, ss24229628, ss24787707, ss69262541, ss69358218, ss86347948 NT_011651.17:234270:G:G NC_000023.11:77682470:C:G (self)
ss1694560479, ss2745467739 NC_000023.10:76937962:G:T NC_000023.11:77682470: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.

2 citations for rs3088074
PMID Title Author Year Journal
23757202 Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data. Bean LJ et al. 2013 Human mutation
24728327 Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. Bodian DL et al. 2014 PloS one
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.post596+ae089ad