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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.

rs151169176

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:45965540 (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
A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.005897 (1561/264690, TOPMED)
T=0.006789 (1637/241110, GnomAD_exome)
T=0.005573 (781/140142, GnomAD) (+ 16 more)
T=0.006899 (772/111908, ExAC)
T=0.00824 (351/42614, ALFA)
T=0.00515 (67/13002, GO-ESP)
T=0.0028 (18/6404, 1000G_30x)
T=0.0030 (15/5008, 1000G)
T=0.0029 (13/4480, Estonian)
T=0.0042 (16/3854, ALSPAC)
T=0.0059 (22/3708, TWINSUK)
T=0.010 (10/998, GoNL)
T=0.003 (2/600, NorthernSweden)
T=0.006 (3/534, MGP)
T=0.007 (2/300, FINRISK)
T=0.042 (9/216, Qatari)
T=0.005 (1/214, Vietnamese)
T=0.03 (1/40, GENOME_DK)
A=0.4 (3/8, SGDP_PRJ)
Clinical Significance
Reported in ClinVar
Gene : Consequence
PHF21A : Synonymous 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 42614 A=0.99176 T=0.00824
European Sub 31780 A=0.99176 T=0.00824
African Sub 3560 A=0.9969 T=0.0031
African Others Sub 122 A=1.000 T=0.000
African American Sub 3438 A=0.9968 T=0.0032
Asian Sub 168 A=1.000 T=0.000
East Asian Sub 112 A=1.000 T=0.000
Other Asian Sub 56 A=1.00 T=0.00
Latin American 1 Sub 500 A=0.990 T=0.010
Latin American 2 Sub 628 A=0.997 T=0.003
South Asian Sub 98 A=0.99 T=0.01
Other Sub 5880 A=0.9881 T=0.0119


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 A=0.994103 T=0.005897
gnomAD - Exomes Global Study-wide 241110 A=0.993211 T=0.006789
gnomAD - Exomes European Sub 130012 A=0.993693 T=0.006307
gnomAD - Exomes Asian Sub 46130 A=0.99330 T=0.00670
gnomAD - Exomes American Sub 33850 A=0.99604 T=0.00396
gnomAD - Exomes African Sub 16166 A=0.99913 T=0.00087
gnomAD - Exomes Ashkenazi Jewish Sub 9056 A=0.9669 T=0.0331
gnomAD - Exomes Other Sub 5896 A=0.9898 T=0.0102
gnomAD - Genomes Global Study-wide 140142 A=0.994427 T=0.005573
gnomAD - Genomes European Sub 75900 A=0.99375 T=0.00625
gnomAD - Genomes African Sub 42010 A=0.99841 T=0.00159
gnomAD - Genomes American Sub 13636 A=0.99333 T=0.00667
gnomAD - Genomes Ashkenazi Jewish Sub 3316 A=0.9596 T=0.0404
gnomAD - Genomes East Asian Sub 3128 A=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2152 A=0.9930 T=0.0070
ExAC Global Study-wide 111908 A=0.993101 T=0.006899
ExAC Europe Sub 70048 A=0.99166 T=0.00834
ExAC Asian Sub 19954 A=0.99328 T=0.00672
ExAC American Sub 11104 A=0.99613 T=0.00387
ExAC African Sub 9992 A=0.9993 T=0.0007
ExAC Other Sub 810 A=0.995 T=0.005
Allele Frequency Aggregator Total Global 42614 A=0.99176 T=0.00824
Allele Frequency Aggregator European Sub 31780 A=0.99176 T=0.00824
Allele Frequency Aggregator Other Sub 5880 A=0.9881 T=0.0119
Allele Frequency Aggregator African Sub 3560 A=0.9969 T=0.0031
Allele Frequency Aggregator Latin American 2 Sub 628 A=0.997 T=0.003
Allele Frequency Aggregator Latin American 1 Sub 500 A=0.990 T=0.010
Allele Frequency Aggregator Asian Sub 168 A=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 98 A=0.99 T=0.01
GO Exome Sequencing Project Global Study-wide 13002 A=0.99485 T=0.00515
GO Exome Sequencing Project European American Sub 8598 A=0.9929 T=0.0071
GO Exome Sequencing Project African American Sub 4404 A=0.9986 T=0.0014
1000Genomes_30x Global Study-wide 6404 A=0.9972 T=0.0028
1000Genomes_30x African Sub 1786 A=1.0000 T=0.0000
1000Genomes_30x Europe Sub 1266 A=0.9961 T=0.0039
1000Genomes_30x South Asian Sub 1202 A=0.9942 T=0.0058
1000Genomes_30x East Asian Sub 1170 A=1.0000 T=0.0000
1000Genomes_30x American Sub 980 A=0.994 T=0.006
1000Genomes Global Study-wide 5008 A=0.9970 T=0.0030
1000Genomes African Sub 1322 A=1.0000 T=0.0000
1000Genomes East Asian Sub 1008 A=1.0000 T=0.0000
1000Genomes Europe Sub 1006 A=0.9960 T=0.0040
1000Genomes South Asian Sub 978 A=0.994 T=0.006
1000Genomes American Sub 694 A=0.993 T=0.007
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.9971 T=0.0029
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.9958 T=0.0042
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.9941 T=0.0059
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.990 T=0.010
Northern Sweden ACPOP Study-wide 600 A=0.997 T=0.003
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.994 T=0.006
FINRISK Finnish from FINRISK project Study-wide 300 A=0.993 T=0.007
Qatari Global Study-wide 216 A=0.958 T=0.042
A Vietnamese Genetic Variation Database Global Study-wide 214 A=0.995 T=0.005
The Danish reference pan genome Danish Study-wide 40 A=0.97 T=0.03
SGDP_PRJ Global Study-wide 8 A=0.4 T=0.6
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 11 NC_000011.10:g.45965540A>T
GRCh37.p13 chr 11 NC_000011.9:g.45987091A>T
Gene: PHF21A, PHD finger protein 21A (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PHF21A transcript variant 7 NM_001352029.1:c.771T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform b NP_001338958.1:p.Ala257= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant 6 NM_001352028.1:c.771T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform b NP_001338957.1:p.Ala257= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant 2 NM_016621.5:c.771T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform b NP_057705.3:p.Ala257= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant 1 NM_001101802.3:c.768T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform a NP_001095272.1:p.Ala256= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant 9 NM_001352031.3:c.768T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform d NP_001338960.1:p.Ala256= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant 10 NM_001352032.3:c.768T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform d NP_001338961.1:p.Ala256= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant 5 NM_001352027.3:c.771T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform c NP_001338956.1:p.Ala257= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant 8 NM_001352030.3:c.768T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform 8 NP_001338959.1:p.Ala256= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant 4 NM_001352026.3:c.771T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform c NP_001338955.1:p.Ala257= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant 3 NM_001352025.3:c.771T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform c NP_001338954.1:p.Ala257= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant 11 NR_147890.3:n.1415T>A N/A Non Coding Transcript Variant
PHF21A transcript variant 12 NR_165446.1:n.1415T>A N/A Non Coding Transcript Variant
PHF21A transcript variant X1 XM_011520157.3:c.792T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform X1 XP_011518459.1:p.Ala264= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant X2 XM_017017887.3:c.792T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform X1 XP_016873376.1:p.Ala264= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant X3 XM_011520158.3:c.792T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform X1 XP_011518460.1:p.Ala264= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant X4 XM_047427079.1:c.792T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform X1 XP_047283035.1:p.Ala264= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant X5 XM_047427080.1:c.792T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform X1 XP_047283036.1:p.Ala264= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant X6 XM_017017889.2:c.789T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform X2 XP_016873378.1:p.Ala263= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant X7 XM_047427081.1:c.789T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform X2 XP_047283037.1:p.Ala263= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant X8 XM_047427082.1:c.789T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform X3 XP_047283038.1:p.Ala263= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant X9 XM_047427083.1:c.786T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform X4 XP_047283039.1:p.Ala262= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant X10 XM_011520174.3:c.771T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform X5 XP_011518476.1:p.Ala257= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant X11 XM_005252965.5:c.771T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform X5 XP_005253022.1:p.Ala257= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant X12 XM_047427084.1:c.771T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform X5 XP_047283040.1:p.Ala257= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant X13 XM_017017892.2:c.768T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform X6 XP_016873381.1:p.Ala256= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant X14 XM_017017891.2:c.768T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform X7 XP_016873380.1:p.Ala256= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant X15 XM_047427085.1:c.768T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform X6 XP_047283041.1:p.Ala256= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant X16 XM_047427086.1:c.768T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform X7 XP_047283042.1:p.Ala256= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant X17 XM_047427087.1:c.768T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform X6 XP_047283043.1:p.Ala256= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant X18 XM_047427088.1:c.768T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform X6 XP_047283044.1:p.Ala256= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant X19 XM_047427089.1:c.768T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform X7 XP_047283045.1:p.Ala256= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant X20 XM_011520175.3:c.768T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform X6 XP_011518477.1:p.Ala256= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant X21 XM_047427090.1:c.765T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform X8 XP_047283046.1:p.Ala255= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant X22 XM_047427091.1:c.765T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform X8 XP_047283047.1:p.Ala255= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant X23 XM_047427092.1:c.771T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform X9 XP_047283048.1:p.Ala257= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant X24 XM_047427093.1:c.771T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform X9 XP_047283049.1:p.Ala257= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant X25 XM_047427094.1:c.771T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform X9 XP_047283050.1:p.Ala257= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant X26 XM_047427095.1:c.792T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform X10 XP_047283051.1:p.Ala264= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant X27 XM_047427097.1:c.789T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform X11 XP_047283053.1:p.Ala263= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant X28 XM_047427098.1:c.789T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform X12 XP_047283054.1:p.Ala263= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant X29 XM_047427099.1:c.792T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform X13 XP_047283055.1:p.Ala264= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant X30 XM_011520179.4:c.771T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform X14 XP_011518481.1:p.Ala257= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant X31 XM_047427100.1:c.771T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform X14 XP_047283056.1:p.Ala257= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant X32 XM_047427101.1:c.771T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform X14 XP_047283057.1:p.Ala257= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant X33 XM_047427102.1:c.768T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform X15 XP_047283058.1:p.Ala256= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant X34 XM_047427103.1:c.765T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform X16 XP_047283059.1:p.Ala255= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant X35 XM_047427104.1:c.771T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform X17 XP_047283060.1:p.Ala257= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant X36 XM_047427105.1:c.771T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform X17 XP_047283061.1:p.Ala257= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant X37 XM_047427107.1:c.768T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform X18 XP_047283063.1:p.Ala256= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant X38 XM_047427108.1:c.768T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform X19 XP_047283064.1:p.Ala256= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant X39 XM_047427109.1:c.768T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform X18 XP_047283065.1:p.Ala256= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant X40 XM_047427110.1:c.768T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform X18 XP_047283066.1:p.Ala256= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant X41 XM_047427111.1:c.792T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform X20 XP_047283067.1:p.Ala264= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant X42 XM_047427113.1:c.768T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform X21 XP_047283069.1:p.Ala256= A (Ala) > A (Ala) Synonymous Variant
PHF21A transcript variant X43 XM_017017907.2:c.519T>A A [GCT] > A [GCA] Coding Sequence Variant
PHD finger protein 21A isoform X22 XP_016873396.1:p.Ala173= A (Ala) > A (Ala) Synonymous 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: T (allele ID: 712830 )
ClinVar Accession Disease Names Clinical Significance
RCV000962944.5 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 A= T
GRCh38.p14 chr 11 NC_000011.10:g.45965540= NC_000011.10:g.45965540A>T
GRCh37.p13 chr 11 NC_000011.9:g.45987091= NC_000011.9:g.45987091A>T
PHF21A transcript variant 2 NM_016621.5:c.771= NM_016621.5:c.771T>A
PHF21A transcript variant 2 NM_016621.4:c.771= NM_016621.4:c.771T>A
PHF21A transcript variant 2 NM_016621.3:c.771= NM_016621.3:c.771T>A
PHF21A transcript variant X11 XM_005252965.5:c.771= XM_005252965.5:c.771T>A
PHF21A transcript variant X21 XM_005252965.4:c.771= XM_005252965.4:c.771T>A
PHF21A transcript variant X20 XM_005252965.3:c.771= XM_005252965.3:c.771T>A
PHF21A transcript variant X4 XM_005252965.2:c.771= XM_005252965.2:c.771T>A
PHF21A transcript variant X4 XM_005252965.1:c.771= XM_005252965.1:c.771T>A
PHF21A transcript variant X30 XM_011520179.4:c.771= XM_011520179.4:c.771T>A
PHF21A transcript variant X34 XM_011520179.3:c.771= XM_011520179.3:c.771T>A
PHF21A transcript variant X33 XM_011520179.2:c.771= XM_011520179.2:c.771T>A
PHF21A transcript variant X26 XM_011520179.1:c.771= XM_011520179.1:c.771T>A
PHF21A transcript variant 3 NM_001352025.3:c.771= NM_001352025.3:c.771T>A
PHF21A transcript variant 3 NM_001352025.2:c.771= NM_001352025.2:c.771T>A
PHF21A transcript variant 3 NM_001352025.1:c.771= NM_001352025.1:c.771T>A
PHF21A transcript variant X3 XM_011520158.3:c.792= XM_011520158.3:c.792T>A
PHF21A transcript variant X1 XM_011520158.2:c.792= XM_011520158.2:c.792T>A
PHF21A transcript variant X2 XM_011520158.1:c.792= XM_011520158.1:c.792T>A
PHF21A transcript variant 5 NM_001352027.3:c.771= NM_001352027.3:c.771T>A
PHF21A transcript variant 5 NM_001352027.2:c.771= NM_001352027.2:c.771T>A
PHF21A transcript variant 5 NM_001352027.1:c.771= NM_001352027.1:c.771T>A
PHF21A transcript variant 10 NM_001352032.3:c.768= NM_001352032.3:c.768T>A
PHF21A transcript variant 10 NM_001352032.2:c.768= NM_001352032.2:c.768T>A
PHF21A transcript variant 10 NM_001352032.1:c.768= NM_001352032.1:c.768T>A
PHF21A transcript variant X1 XM_011520157.3:c.792= XM_011520157.3:c.792T>A
PHF21A transcript variant X8 XM_011520157.2:c.792= XM_011520157.2:c.792T>A
PHF21A transcript variant X1 XM_011520157.1:c.792= XM_011520157.1:c.792T>A
PHF21A transcript variant 4 NM_001352026.3:c.771= NM_001352026.3:c.771T>A
PHF21A transcript variant 4 NM_001352026.2:c.771= NM_001352026.2:c.771T>A
PHF21A transcript variant 4 NM_001352026.1:c.771= NM_001352026.1:c.771T>A
PHF21A transcript variant 1 NM_001101802.3:c.768= NM_001101802.3:c.768T>A
PHF21A transcript variant 1 NM_001101802.2:c.768= NM_001101802.2:c.768T>A
PHF21A transcript variant 1 NM_001101802.1:c.768= NM_001101802.1:c.768T>A
PHF21A transcript variant 11 NR_147890.3:n.1415= NR_147890.3:n.1415T>A
PHF21A transcript NR_147890.2:n.946= NR_147890.2:n.946T>A
PHF21A transcript NR_147890.1:n.1395= NR_147890.1:n.1395T>A
PHF21A transcript variant 9 NM_001352031.3:c.768= NM_001352031.3:c.768T>A
PHF21A transcript variant 9 NM_001352031.2:c.768= NM_001352031.2:c.768T>A
PHF21A transcript variant 9 NM_001352031.1:c.768= NM_001352031.1:c.768T>A
PHF21A transcript variant 8 NM_001352030.3:c.768= NM_001352030.3:c.768T>A
PHF21A transcript variant 8 NM_001352030.2:c.768= NM_001352030.2:c.768T>A
PHF21A transcript variant 8 NM_001352030.1:c.768= NM_001352030.1:c.768T>A
PHF21A transcript variant X10 XM_011520174.3:c.771= XM_011520174.3:c.771T>A
PHF21A transcript variant X17 XM_011520174.2:c.771= XM_011520174.2:c.771T>A
PHF21A transcript variant X19 XM_011520174.1:c.771= XM_011520174.1:c.771T>A
PHF21A transcript variant X20 XM_011520175.3:c.768= XM_011520175.3:c.768T>A
PHF21A transcript variant X24 XM_011520175.2:c.768= XM_011520175.2:c.768T>A
PHF21A transcript variant X21 XM_011520175.1:c.768= XM_011520175.1:c.768T>A
PHF21A transcript variant X2 XM_017017887.3:c.792= XM_017017887.3:c.792T>A
PHF21A transcript variant X13 XM_017017887.2:c.792= XM_017017887.2:c.792T>A
PHF21A transcript variant X14 XM_017017887.1:c.792= XM_017017887.1:c.792T>A
PHF21A transcript variant X6 XM_017017889.2:c.789= XM_017017889.2:c.789T>A
PHF21A transcript variant X15 XM_017017889.1:c.789= XM_017017889.1:c.789T>A
PHF21A transcript variant X13 XM_017017892.2:c.768= XM_017017892.2:c.768T>A
PHF21A transcript variant X23 XM_017017892.1:c.768= XM_017017892.1:c.768T>A
PHF21A transcript variant X14 XM_017017891.2:c.768= XM_017017891.2:c.768T>A
PHF21A transcript variant X22 XM_017017891.1:c.768= XM_017017891.1:c.768T>A
PHF21A transcript variant X43 XM_017017907.2:c.519= XM_017017907.2:c.519T>A
PHF21A transcript variant X41 XM_017017907.1:c.519= XM_017017907.1:c.519T>A
PHF21A transcript variant X5 XM_047427080.1:c.792= XM_047427080.1:c.792T>A
PHF21A transcript variant X16 XM_047427086.1:c.768= XM_047427086.1:c.768T>A
PHF21A transcript variant X4 XM_047427079.1:c.792= XM_047427079.1:c.792T>A
PHF21A transcript variant X12 XM_047427084.1:c.771= XM_047427084.1:c.771T>A
PHF21A transcript variant X18 XM_047427088.1:c.768= XM_047427088.1:c.768T>A
PHF21A transcript variant X23 XM_047427092.1:c.771= XM_047427092.1:c.771T>A
PHF21A transcript variant X21 XM_047427090.1:c.765= XM_047427090.1:c.765T>A
PHF21A transcript variant 12 NR_165446.1:n.1415= NR_165446.1:n.1415T>A
PHF21A transcript variant X25 XM_047427094.1:c.771= XM_047427094.1:c.771T>A
PHF21A transcript variant X8 XM_047427082.1:c.789= XM_047427082.1:c.789T>A
PHF21A transcript variant X7 XM_047427081.1:c.789= XM_047427081.1:c.789T>A
PHF21A transcript variant X15 XM_047427085.1:c.768= XM_047427085.1:c.768T>A
PHF21A transcript variant X22 XM_047427091.1:c.765= XM_047427091.1:c.765T>A
PHF21A transcript variant X35 XM_047427104.1:c.771= XM_047427104.1:c.771T>A
PHF21A transcript variant X37 XM_047427107.1:c.768= XM_047427107.1:c.768T>A
PHF21A transcript variant X28 XM_047427098.1:c.789= XM_047427098.1:c.789T>A
PHF21A transcript variant X36 XM_047427105.1:c.771= XM_047427105.1:c.771T>A
PHF21A transcript variant X39 XM_047427109.1:c.768= XM_047427109.1:c.768T>A
PHF21A transcript variant X38 XM_047427108.1:c.768= XM_047427108.1:c.768T>A
PHF21A transcript variant X24 XM_047427093.1:c.771= XM_047427093.1:c.771T>A
PHF21A transcript variant 7 NM_001352029.1:c.771= NM_001352029.1:c.771T>A
PHF21A transcript variant X9 XM_047427083.1:c.786= XM_047427083.1:c.786T>A
PHF21A transcript variant X19 XM_047427089.1:c.768= XM_047427089.1:c.768T>A
PHF21A transcript variant X17 XM_047427087.1:c.768= XM_047427087.1:c.768T>A
PHF21A transcript variant X31 XM_047427100.1:c.771= XM_047427100.1:c.771T>A
PHF21A transcript variant X26 XM_047427095.1:c.792= XM_047427095.1:c.792T>A
PHF21A transcript variant X27 XM_047427097.1:c.789= XM_047427097.1:c.789T>A
PHF21A transcript variant X29 XM_047427099.1:c.792= XM_047427099.1:c.792T>A
PHF21A transcript variant X34 XM_047427103.1:c.765= XM_047427103.1:c.765T>A
PHF21A transcript variant X32 XM_047427101.1:c.771= XM_047427101.1:c.771T>A
PHF21A transcript variant X33 XM_047427102.1:c.768= XM_047427102.1:c.768T>A
PHF21A transcript variant X40 XM_047427110.1:c.768= XM_047427110.1:c.768T>A
PHF21A transcript variant 6 NM_001352028.1:c.771= NM_001352028.1:c.771T>A
PHF21A transcript variant X42 XM_047427113.1:c.768= XM_047427113.1:c.768T>A
PHF21A transcript variant X41 XM_047427111.1:c.792= XM_047427111.1:c.792T>A
PHD finger protein 21A isoform b NP_057705.3:p.Ala257= NP_057705.3:p.Ala257=
PHD finger protein 21A isoform X5 XP_005253022.1:p.Ala257= XP_005253022.1:p.Ala257=
PHD finger protein 21A isoform X14 XP_011518481.1:p.Ala257= XP_011518481.1:p.Ala257=
PHD finger protein 21A isoform c NP_001338954.1:p.Ala257= NP_001338954.1:p.Ala257=
PHD finger protein 21A isoform X1 XP_011518460.1:p.Ala264= XP_011518460.1:p.Ala264=
PHD finger protein 21A isoform c NP_001338956.1:p.Ala257= NP_001338956.1:p.Ala257=
PHD finger protein 21A isoform d NP_001338961.1:p.Ala256= NP_001338961.1:p.Ala256=
PHD finger protein 21A isoform X1 XP_011518459.1:p.Ala264= XP_011518459.1:p.Ala264=
PHD finger protein 21A isoform c NP_001338955.1:p.Ala257= NP_001338955.1:p.Ala257=
PHD finger protein 21A isoform a NP_001095272.1:p.Ala256= NP_001095272.1:p.Ala256=
PHD finger protein 21A isoform d NP_001338960.1:p.Ala256= NP_001338960.1:p.Ala256=
PHD finger protein 21A isoform 8 NP_001338959.1:p.Ala256= NP_001338959.1:p.Ala256=
PHD finger protein 21A isoform X5 XP_011518476.1:p.Ala257= XP_011518476.1:p.Ala257=
PHD finger protein 21A isoform X6 XP_011518477.1:p.Ala256= XP_011518477.1:p.Ala256=
PHD finger protein 21A isoform X1 XP_016873376.1:p.Ala264= XP_016873376.1:p.Ala264=
PHD finger protein 21A isoform X2 XP_016873378.1:p.Ala263= XP_016873378.1:p.Ala263=
PHD finger protein 21A isoform X6 XP_016873381.1:p.Ala256= XP_016873381.1:p.Ala256=
PHD finger protein 21A isoform X7 XP_016873380.1:p.Ala256= XP_016873380.1:p.Ala256=
PHD finger protein 21A isoform X22 XP_016873396.1:p.Ala173= XP_016873396.1:p.Ala173=
PHD finger protein 21A isoform X1 XP_047283036.1:p.Ala264= XP_047283036.1:p.Ala264=
PHD finger protein 21A isoform X7 XP_047283042.1:p.Ala256= XP_047283042.1:p.Ala256=
PHD finger protein 21A isoform X1 XP_047283035.1:p.Ala264= XP_047283035.1:p.Ala264=
PHD finger protein 21A isoform X5 XP_047283040.1:p.Ala257= XP_047283040.1:p.Ala257=
PHD finger protein 21A isoform X6 XP_047283044.1:p.Ala256= XP_047283044.1:p.Ala256=
PHD finger protein 21A isoform X9 XP_047283048.1:p.Ala257= XP_047283048.1:p.Ala257=
PHD finger protein 21A isoform X8 XP_047283046.1:p.Ala255= XP_047283046.1:p.Ala255=
PHD finger protein 21A isoform X9 XP_047283050.1:p.Ala257= XP_047283050.1:p.Ala257=
PHD finger protein 21A isoform X3 XP_047283038.1:p.Ala263= XP_047283038.1:p.Ala263=
PHD finger protein 21A isoform X2 XP_047283037.1:p.Ala263= XP_047283037.1:p.Ala263=
PHD finger protein 21A isoform X6 XP_047283041.1:p.Ala256= XP_047283041.1:p.Ala256=
PHD finger protein 21A isoform X8 XP_047283047.1:p.Ala255= XP_047283047.1:p.Ala255=
PHD finger protein 21A isoform X17 XP_047283060.1:p.Ala257= XP_047283060.1:p.Ala257=
PHD finger protein 21A isoform X18 XP_047283063.1:p.Ala256= XP_047283063.1:p.Ala256=
PHD finger protein 21A isoform X12 XP_047283054.1:p.Ala263= XP_047283054.1:p.Ala263=
PHD finger protein 21A isoform X17 XP_047283061.1:p.Ala257= XP_047283061.1:p.Ala257=
PHD finger protein 21A isoform X18 XP_047283065.1:p.Ala256= XP_047283065.1:p.Ala256=
PHD finger protein 21A isoform X19 XP_047283064.1:p.Ala256= XP_047283064.1:p.Ala256=
PHD finger protein 21A isoform X9 XP_047283049.1:p.Ala257= XP_047283049.1:p.Ala257=
PHD finger protein 21A isoform b NP_001338958.1:p.Ala257= NP_001338958.1:p.Ala257=
PHD finger protein 21A isoform X4 XP_047283039.1:p.Ala262= XP_047283039.1:p.Ala262=
PHD finger protein 21A isoform X7 XP_047283045.1:p.Ala256= XP_047283045.1:p.Ala256=
PHD finger protein 21A isoform X6 XP_047283043.1:p.Ala256= XP_047283043.1:p.Ala256=
PHD finger protein 21A isoform X14 XP_047283056.1:p.Ala257= XP_047283056.1:p.Ala257=
PHD finger protein 21A isoform X10 XP_047283051.1:p.Ala264= XP_047283051.1:p.Ala264=
PHD finger protein 21A isoform X11 XP_047283053.1:p.Ala263= XP_047283053.1:p.Ala263=
PHD finger protein 21A isoform X13 XP_047283055.1:p.Ala264= XP_047283055.1:p.Ala264=
PHD finger protein 21A isoform X16 XP_047283059.1:p.Ala255= XP_047283059.1:p.Ala255=
PHD finger protein 21A isoform X14 XP_047283057.1:p.Ala257= XP_047283057.1:p.Ala257=
PHD finger protein 21A isoform X15 XP_047283058.1:p.Ala256= XP_047283058.1:p.Ala256=
PHD finger protein 21A isoform X18 XP_047283066.1:p.Ala256= XP_047283066.1:p.Ala256=
PHD finger protein 21A isoform b NP_001338957.1:p.Ala257= NP_001338957.1:p.Ala257=
PHD finger protein 21A isoform X21 XP_047283069.1:p.Ala256= XP_047283069.1:p.Ala256=
PHD finger protein 21A isoform X20 XP_047283067.1:p.Ala264= XP_047283067.1:p.Ala264=
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#.

41 SubSNP, 19 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss336698259 May 09, 2011 (134)
2 NHLBI-ESP ss342323134 May 09, 2011 (134)
3 1000GENOMES ss491016378 May 04, 2012 (137)
4 CLINSEQ_SNP ss491642873 May 04, 2012 (137)
5 EVA-GONL ss988487725 Aug 21, 2014 (142)
6 1000GENOMES ss1341133111 Aug 21, 2014 (142)
7 DDI ss1426622845 Apr 01, 2015 (144)
8 EVA_GENOME_DK ss1575691379 Apr 01, 2015 (144)
9 EVA_FINRISK ss1584074238 Apr 01, 2015 (144)
10 EVA_DECODE ss1598163331 Apr 01, 2015 (144)
11 EVA_UK10K_ALSPAC ss1626531236 Apr 01, 2015 (144)
12 EVA_UK10K_TWINSUK ss1669525269 Apr 01, 2015 (144)
13 EVA_EXAC ss1690335082 Apr 01, 2015 (144)
14 EVA_MGP ss1711289232 Apr 01, 2015 (144)
15 WEILL_CORNELL_DGM ss1931845167 Feb 12, 2016 (147)
16 HUMAN_LONGEVITY ss2182284485 Dec 20, 2016 (150)
17 GNOMAD ss2738919555 Nov 08, 2017 (151)
18 GNOMAD ss2748597795 Nov 08, 2017 (151)
19 GNOMAD ss2899179335 Nov 08, 2017 (151)
20 SWEGEN ss3008012704 Nov 08, 2017 (151)
21 EGCUT_WGS ss3675421898 Jul 13, 2019 (153)
22 EVA_DECODE ss3691716907 Jul 13, 2019 (153)
23 ACPOP ss3738151283 Jul 13, 2019 (153)
24 KHV_HUMAN_GENOMES ss3814605637 Jul 13, 2019 (153)
25 EVA ss3824609724 Apr 26, 2020 (154)
26 EVA ss3825796855 Apr 26, 2020 (154)
27 EVA ss3832613771 Apr 26, 2020 (154)
28 SGDP_PRJ ss3876179396 Apr 26, 2020 (154)
29 FSA-LAB ss3984000700 Apr 27, 2021 (155)
30 EVA ss3986522294 Apr 27, 2021 (155)
31 TOPMED ss4884042029 Apr 27, 2021 (155)
32 1000G_HIGH_COVERAGE ss5287284184 Oct 16, 2022 (156)
33 EVA ss5399358640 Oct 16, 2022 (156)
34 HUGCELL_USP ss5482500238 Oct 16, 2022 (156)
35 1000G_HIGH_COVERAGE ss5582879834 Oct 16, 2022 (156)
36 EVA ss5623953077 Oct 16, 2022 (156)
37 SANFORD_IMAGENETICS ss5651151973 Oct 16, 2022 (156)
38 EVA ss5836612124 Oct 16, 2022 (156)
39 EVA ss5848322866 Oct 16, 2022 (156)
40 EVA ss5919848316 Oct 16, 2022 (156)
41 EVA ss5942470746 Oct 16, 2022 (156)
42 1000Genomes NC_000011.9 - 45987091 Oct 12, 2018 (152)
43 1000Genomes_30x NC_000011.10 - 45965540 Oct 16, 2022 (156)
44 The Avon Longitudinal Study of Parents and Children NC_000011.9 - 45987091 Oct 12, 2018 (152)
45 Genetic variation in the Estonian population NC_000011.9 - 45987091 Oct 12, 2018 (152)
46 ExAC NC_000011.9 - 45987091 Oct 12, 2018 (152)
47 FINRISK NC_000011.9 - 45987091 Apr 26, 2020 (154)
48 The Danish reference pan genome NC_000011.9 - 45987091 Apr 26, 2020 (154)
49 gnomAD - Genomes NC_000011.10 - 45965540 Apr 27, 2021 (155)
50 gnomAD - Exomes NC_000011.9 - 45987091 Jul 13, 2019 (153)
51 GO Exome Sequencing Project NC_000011.9 - 45987091 Oct 12, 2018 (152)
52 Genome of the Netherlands Release 5 NC_000011.9 - 45987091 Apr 26, 2020 (154)
53 Medical Genome Project healthy controls from Spanish population NC_000011.9 - 45987091 Apr 26, 2020 (154)
54 Northern Sweden NC_000011.9 - 45987091 Jul 13, 2019 (153)
55 Qatari NC_000011.9 - 45987091 Apr 26, 2020 (154)
56 SGDP_PRJ NC_000011.9 - 45987091 Apr 26, 2020 (154)
57 TopMed NC_000011.10 - 45965540 Apr 27, 2021 (155)
58 UK 10K study - Twins NC_000011.9 - 45987091 Oct 12, 2018 (152)
59 A Vietnamese Genetic Variation Database NC_000011.9 - 45987091 Jul 13, 2019 (153)
60 ALFA NC_000011.10 - 45965540 Apr 27, 2021 (155)
61 ClinVar RCV000962944.5 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
ss491642873, ss1598163331 NC_000011.8:45943666:A:T NC_000011.10:45965539:A:T (self)
53652982, 29810676, 21160146, 588822, 70699, 2553958, 8132283, 1067321, 13300105, 404992, 11436148, 13887097, 28196376, 29810676, 6623856, ss336698259, ss342323134, ss491016378, ss988487725, ss1341133111, ss1426622845, ss1575691379, ss1584074238, ss1626531236, ss1669525269, ss1690335082, ss1711289232, ss1931845167, ss2738919555, ss2748597795, ss2899179335, ss3008012704, ss3675421898, ss3738151283, ss3824609724, ss3825796855, ss3832613771, ss3876179396, ss3984000700, ss3986522294, ss5399358640, ss5623953077, ss5651151973, ss5836612124, ss5848322866, ss5942470746 NC_000011.9:45987090:A:T NC_000011.10:45965539:A:T (self)
RCV000962944.5, 70405769, 378645387, 99587685, 4168508255, ss2182284485, ss3691716907, ss3814605637, ss4884042029, ss5287284184, ss5482500238, ss5582879834, ss5919848316 NC_000011.10:45965539:A:T NC_000011.10:45965539:A: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 rs151169176

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