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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.

rs1483860922

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr19:57928014 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000008 (2/264690, TOPMED)
A=0.000007 (1/140082, GnomAD)
A=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ZNF418 : 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 14050 G=1.00000 A=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 G=1.0000 A=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 G=1.0000 A=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 G=1.000 A=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 G=1.0000 A=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 G=1.000 A=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 G=1.00 A=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 G=1.00 A=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 G=1.000 A=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 G=1.000 A=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 G=1.00 A=0.00 1.0 0.0 0.0 N/A
Other Sub 496 G=1.000 A=0.000 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 G=0.999992 A=0.000008
gnomAD - Genomes Global Study-wide 140082 G=0.999993 A=0.000007
gnomAD - Genomes European Sub 75908 G=1.00000 A=0.00000
gnomAD - Genomes African Sub 41952 G=0.99998 A=0.00002
gnomAD - Genomes American Sub 13620 G=1.00000 A=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3320 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3132 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2150 G=1.0000 A=0.0000
Allele Frequency Aggregator Total Global 14050 G=1.00000 A=0.00000
Allele Frequency Aggregator European Sub 9690 G=1.0000 A=0.0000
Allele Frequency Aggregator African Sub 2898 G=1.0000 A=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 G=1.000 A=0.000
Allele Frequency Aggregator Other Sub 496 G=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 A=0.000
Allele Frequency Aggregator Asian Sub 112 G=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 98 G=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 19 NC_000019.10:g.57928014G>A
GRCh37.p13 chr 19 NC_000019.9:g.58439382G>A
Gene: ZNF418, zinc finger protein 418 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ZNF418 transcript variant 5 NM_001317030.2:c.-89= N/A 5 Prime UTR Variant
ZNF418 transcript variant 2 NM_001317028.2:c.170C>T P [CCT] > L [CTT] Coding Sequence Variant
zinc finger protein 418 isoform b NP_001303957.1:p.Pro57Leu P (Pro) > L (Leu) Missense Variant
ZNF418 transcript variant 1 NM_001317027.2:c.230C>T P [CCT] > L [CTT] Coding Sequence Variant
zinc finger protein 418 isoform a NP_001303956.1:p.Pro77Leu P (Pro) > L (Leu) Missense Variant
ZNF418 transcript variant 3 NM_133460.3:c.167C>T P [CCT] > L [CTT] Coding Sequence Variant
zinc finger protein 418 isoform c NP_597717.1:p.Pro56Leu P (Pro) > L (Leu) Missense Variant
ZNF418 transcript variant 4 NM_001317029.2:c.167C>T P [CCT] > L [CTT] Coding Sequence Variant
zinc finger protein 418 isoform c NP_001303958.1:p.Pro56Leu P (Pro) > L (Leu) Missense Variant
ZNF418 transcript variant X1 XM_017026304.3:c.230C>T P [CCT] > L [CTT] Coding Sequence Variant
zinc finger protein 418 isoform X1 XP_016881793.1:p.Pro77Leu P (Pro) > L (Leu) Missense Variant
ZNF418 transcript variant X2 XM_047438195.1:c.230C>T P [CCT] > L [CTT] Coding Sequence Variant
zinc finger protein 418 isoform X1 XP_047294151.1:p.Pro77Leu P (Pro) > L (Leu) Missense Variant
ZNF418 transcript variant X3 XM_047438196.1:c.230C>T P [CCT] > L [CTT] Coding Sequence Variant
zinc finger protein 418 isoform X1 XP_047294152.1:p.Pro77Leu P (Pro) > L (Leu) Missense Variant
ZNF418 transcript variant X4 XM_017026305.3:c.230C>T P [CCT] > L [CTT] Coding Sequence Variant
zinc finger protein 418 isoform X1 XP_016881794.1:p.Pro77Leu P (Pro) > L (Leu) Missense Variant
ZNF418 transcript variant X5 XM_047438197.1:c.230C>T P [CCT] > L [CTT] Coding Sequence Variant
zinc finger protein 418 isoform X1 XP_047294153.1:p.Pro77Leu P (Pro) > L (Leu) Missense Variant
ZNF418 transcript variant X6 XM_047438198.1:c.230C>T P [CCT] > L [CTT] Coding Sequence Variant
zinc finger protein 418 isoform X1 XP_047294154.1:p.Pro77Leu P (Pro) > L (Leu) Missense Variant
ZNF418 transcript variant X7 XM_047438199.1:c.227C>T P [CCT] > L [CTT] Coding Sequence Variant
zinc finger protein 418 isoform X2 XP_047294155.1:p.Pro76Leu P (Pro) > L (Leu) Missense Variant
ZNF418 transcript variant X8 XM_017026308.3:c.197C>T P [CCT] > L [CTT] Coding Sequence Variant
zinc finger protein 418 isoform X3 XP_016881797.1:p.Pro66Leu P (Pro) > L (Leu) Missense Variant
ZNF418 transcript variant X9 XM_047438200.1:c.197C>T P [CCT] > L [CTT] Coding Sequence Variant
zinc finger protein 418 isoform X3 XP_047294156.1:p.Pro66Leu P (Pro) > L (Leu) Missense Variant
ZNF418 transcript variant X10 XM_047438201.1:c.194C>T P [CCT] > L [CTT] Coding Sequence Variant
zinc finger protein 418 isoform X4 XP_047294157.1:p.Pro65Leu P (Pro) > L (Leu) Missense Variant
ZNF418 transcript variant X11 XM_047438202.1:c.194C>T P [CCT] > L [CTT] Coding Sequence Variant
zinc finger protein 418 isoform X4 XP_047294158.1:p.Pro65Leu P (Pro) > L (Leu) Missense Variant
ZNF418 transcript variant X12 XM_017026310.2:c.170C>T P [CCT] > L [CTT] Coding Sequence Variant
zinc finger protein 418 isoform X5 XP_016881799.1:p.Pro57Leu P (Pro) > L (Leu) Missense Variant
ZNF418 transcript variant X13 XM_047438203.1:c.170C>T P [CCT] > L [CTT] Coding Sequence Variant
zinc finger protein 418 isoform X5 XP_047294159.1:p.Pro57Leu P (Pro) > L (Leu) Missense Variant
ZNF418 transcript variant X14 XM_017026311.2:c.170C>T P [CCT] > L [CTT] Coding Sequence Variant
zinc finger protein 418 isoform X5 XP_016881800.1:p.Pro57Leu P (Pro) > L (Leu) Missense Variant
ZNF418 transcript variant X15 XM_047438204.1:c.170C>T P [CCT] > L [CTT] Coding Sequence Variant
zinc finger protein 418 isoform X5 XP_047294160.1:p.Pro57Leu P (Pro) > L (Leu) Missense Variant
ZNF418 transcript variant X16 XM_047438205.1:c.170C>T P [CCT] > L [CTT] Coding Sequence Variant
zinc finger protein 418 isoform X5 XP_047294161.1:p.Pro57Leu P (Pro) > L (Leu) Missense Variant
ZNF418 transcript variant X17 XM_047438206.1:c.170C>T P [CCT] > L [CTT] Coding Sequence Variant
zinc finger protein 418 isoform X5 XP_047294162.1:p.Pro57Leu P (Pro) > L (Leu) Missense Variant
ZNF418 transcript variant X18 XM_047438207.1:c.170C>T P [CCT] > L [CTT] Coding Sequence Variant
zinc finger protein 418 isoform X5 XP_047294163.1:p.Pro57Leu P (Pro) > L (Leu) Missense Variant
ZNF418 transcript variant X19 XM_047438208.1:c.170C>T P [CCT] > L [CTT] Coding Sequence Variant
zinc finger protein 418 isoform X5 XP_047294164.1:p.Pro57Leu P (Pro) > L (Leu) Missense Variant
ZNF418 transcript variant X20 XM_047438209.1:c.170C>T P [CCT] > L [CTT] Coding Sequence Variant
zinc finger protein 418 isoform X5 XP_047294165.1:p.Pro57Leu P (Pro) > L (Leu) Missense Variant
ZNF418 transcript variant X21 XM_047438210.1:c.167C>T P [CCT] > L [CTT] Coding Sequence Variant
zinc finger protein 418 isoform X6 XP_047294166.1:p.Pro56Leu P (Pro) > L (Leu) Missense Variant
ZNF418 transcript variant X22 XM_047438211.1:c.167C>T P [CCT] > L [CTT] Coding Sequence Variant
zinc finger protein 418 isoform X6 XP_047294167.1:p.Pro56Leu P (Pro) > L (Leu) Missense Variant
ZNF418 transcript variant X23 XM_047438212.1:c.167C>T P [CCT] > L [CTT] Coding Sequence Variant
zinc finger protein 418 isoform X6 XP_047294168.1:p.Pro56Leu P (Pro) > L (Leu) Missense Variant
ZNF418 transcript variant X24 XM_017026313.2:c.167C>T P [CCT] > L [CTT] Coding Sequence Variant
zinc finger protein 418 isoform X6 XP_016881802.1:p.Pro56Leu P (Pro) > L (Leu) Missense Variant
ZNF418 transcript variant X25 XM_047438214.1:c.167C>T P [CCT] > L [CTT] Coding Sequence Variant
zinc finger protein 418 isoform X6 XP_047294170.1:p.Pro56Leu P (Pro) > L (Leu) Missense Variant
ZNF418 transcript variant X26 XM_047438215.1:c.167C>T P [CCT] > L [CTT] Coding Sequence Variant
zinc finger protein 418 isoform X6 XP_047294171.1:p.Pro56Leu P (Pro) > L (Leu) Missense Variant
ZNF418 transcript variant X27 XM_047438216.1:c.167C>T P [CCT] > L [CTT] Coding Sequence Variant
zinc finger protein 418 isoform X6 XP_047294172.1:p.Pro56Leu P (Pro) > L (Leu) Missense Variant
ZNF418 transcript variant X28 XM_047438217.1:c.167C>T P [CCT] > L [CTT] Coding Sequence Variant
zinc finger protein 418 isoform X6 XP_047294173.1:p.Pro56Leu P (Pro) > L (Leu) Missense Variant
ZNF418 transcript variant X29 XM_047438218.1:c.230C>T P [CCT] > L [CTT] Coding Sequence Variant
zinc finger protein 418 isoform X7 XP_047294174.1:p.Pro77Leu P (Pro) > L (Leu) Missense Variant
ZNF418 transcript variant X30 XM_017026314.3:c.68C>T P [CCT] > L [CTT] Coding Sequence Variant
zinc finger protein 418 isoform X8 XP_016881803.1:p.Pro23Leu P (Pro) > L (Leu) Missense Variant
ZNF418 transcript variant X31 XM_047438219.1:c.68C>T P [CCT] > L [CTT] Coding Sequence Variant
zinc finger protein 418 isoform X8 XP_047294175.1:p.Pro23Leu P (Pro) > L (Leu) Missense Variant
ZNF418 transcript variant X32 XM_047438220.1:c.68C>T P [CCT] > L [CTT] Coding Sequence Variant
zinc finger protein 418 isoform X8 XP_047294176.1:p.Pro23Leu P (Pro) > L (Leu) Missense Variant
ZNF418 transcript variant X33 XM_047438221.1:c.68C>T P [CCT] > L [CTT] Coding Sequence Variant
zinc finger protein 418 isoform X8 XP_047294177.1:p.Pro23Leu P (Pro) > L (Leu) 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.

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 G= A
GRCh38.p14 chr 19 NC_000019.10:g.57928014= NC_000019.10:g.57928014G>A
GRCh37.p13 chr 19 NC_000019.9:g.58439382= NC_000019.9:g.58439382G>A
ZNF418 transcript variant X1 XM_017026304.3:c.230= XM_017026304.3:c.230C>T
ZNF418 transcript variant X1 XM_017026304.2:c.230= XM_017026304.2:c.230C>T
ZNF418 transcript variant X1 XM_017026304.1:c.230= XM_017026304.1:c.230C>T
ZNF418 transcript variant X4 XM_017026305.3:c.230= XM_017026305.3:c.230C>T
ZNF418 transcript variant X2 XM_017026305.2:c.230= XM_017026305.2:c.230C>T
ZNF418 transcript variant X2 XM_017026305.1:c.230= XM_017026305.1:c.230C>T
ZNF418 transcript variant 3 NM_133460.3:c.167= NM_133460.3:c.167C>T
ZNF418 transcript variant 3 NM_133460.2:c.167= NM_133460.2:c.167C>T
ZNF418 transcript NM_133460.1:c.167= NM_133460.1:c.167C>T
ZNF418 transcript variant X30 XM_017026314.3:c.68= XM_017026314.3:c.68C>T
ZNF418 transcript variant X10 XM_017026314.2:c.68= XM_017026314.2:c.68C>T
ZNF418 transcript variant X11 XM_017026314.1:c.68= XM_017026314.1:c.68C>T
ZNF418 transcript variant X8 XM_017026308.3:c.197= XM_017026308.3:c.197C>T
ZNF418 transcript variant X4 XM_017026308.2:c.197= XM_017026308.2:c.197C>T
ZNF418 transcript variant X5 XM_017026308.1:c.197= XM_017026308.1:c.197C>T
ZNF418 transcript variant X24 XM_017026313.2:c.167= XM_017026313.2:c.167C>T
ZNF418 transcript variant X9 XM_017026313.1:c.167= XM_017026313.1:c.167C>T
ZNF418 transcript variant 1 NM_001317027.2:c.230= NM_001317027.2:c.230C>T
ZNF418 transcript variant 1 NM_001317027.1:c.230= NM_001317027.1:c.230C>T
ZNF418 transcript variant X12 XM_017026310.2:c.170= XM_017026310.2:c.170C>T
ZNF418 transcript variant X6 XM_017026310.1:c.170= XM_017026310.1:c.170C>T
ZNF418 transcript variant 2 NM_001317028.2:c.170= NM_001317028.2:c.170C>T
ZNF418 transcript variant 2 NM_001317028.1:c.170= NM_001317028.1:c.170C>T
ZNF418 transcript variant 4 NM_001317029.2:c.167= NM_001317029.2:c.167C>T
ZNF418 transcript variant 4 NM_001317029.1:c.167= NM_001317029.1:c.167C>T
ZNF418 transcript variant X14 XM_017026311.2:c.170= XM_017026311.2:c.170C>T
ZNF418 transcript variant X7 XM_017026311.1:c.170= XM_017026311.1:c.170C>T
ZNF418 transcript variant 5 NM_001317030.2:c.-89= NM_001317030.2:c.-89C>T
ZNF418 transcript variant 5 NM_001317030.1:c.-89= NM_001317030.1:c.-89C>T
ZNF418 transcript variant X28 XM_047438217.1:c.167= XM_047438217.1:c.167C>T
ZNF418 transcript variant X7 XM_047438199.1:c.227= XM_047438199.1:c.227C>T
ZNF418 transcript variant X2 XM_047438195.1:c.230= XM_047438195.1:c.230C>T
ZNF418 transcript variant X3 XM_047438196.1:c.230= XM_047438196.1:c.230C>T
ZNF418 transcript variant X5 XM_047438197.1:c.230= XM_047438197.1:c.230C>T
ZNF418 transcript variant X29 XM_047438218.1:c.230= XM_047438218.1:c.230C>T
ZNF418 transcript variant X6 XM_047438198.1:c.230= XM_047438198.1:c.230C>T
ZNF418 transcript variant X19 XM_047438208.1:c.170= XM_047438208.1:c.170C>T
ZNF418 transcript variant X20 XM_047438209.1:c.170= XM_047438209.1:c.170C>T
ZNF418 transcript variant X22 XM_047438211.1:c.167= XM_047438211.1:c.167C>T
ZNF418 transcript variant X21 XM_047438210.1:c.167= XM_047438210.1:c.167C>T
ZNF418 transcript variant X23 XM_047438212.1:c.167= XM_047438212.1:c.167C>T
ZNF418 transcript variant X10 XM_047438201.1:c.194= XM_047438201.1:c.194C>T
ZNF418 transcript variant X15 XM_047438204.1:c.170= XM_047438204.1:c.170C>T
ZNF418 transcript variant X13 XM_047438203.1:c.170= XM_047438203.1:c.170C>T
ZNF418 transcript variant X31 XM_047438219.1:c.68= XM_047438219.1:c.68C>T
ZNF418 transcript variant X17 XM_047438206.1:c.170= XM_047438206.1:c.170C>T
ZNF418 transcript variant X25 XM_047438214.1:c.167= XM_047438214.1:c.167C>T
ZNF418 transcript variant X26 XM_047438215.1:c.167= XM_047438215.1:c.167C>T
ZNF418 transcript variant X11 XM_047438202.1:c.194= XM_047438202.1:c.194C>T
ZNF418 transcript variant X33 XM_047438221.1:c.68= XM_047438221.1:c.68C>T
ZNF418 transcript variant X32 XM_047438220.1:c.68= XM_047438220.1:c.68C>T
ZNF418 transcript variant X16 XM_047438205.1:c.170= XM_047438205.1:c.170C>T
ZNF418 transcript variant X27 XM_047438216.1:c.167= XM_047438216.1:c.167C>T
ZNF418 transcript variant X18 XM_047438207.1:c.170= XM_047438207.1:c.170C>T
ZNF418 transcript variant X9 XM_047438200.1:c.197= XM_047438200.1:c.197C>T
zinc finger protein 418 isoform X1 XP_016881793.1:p.Pro77= XP_016881793.1:p.Pro77Leu
zinc finger protein 418 isoform X1 XP_016881794.1:p.Pro77= XP_016881794.1:p.Pro77Leu
zinc finger protein 418 isoform c NP_597717.1:p.Pro56= NP_597717.1:p.Pro56Leu
zinc finger protein 418 isoform X8 XP_016881803.1:p.Pro23= XP_016881803.1:p.Pro23Leu
zinc finger protein 418 isoform X3 XP_016881797.1:p.Pro66= XP_016881797.1:p.Pro66Leu
zinc finger protein 418 isoform X6 XP_016881802.1:p.Pro56= XP_016881802.1:p.Pro56Leu
zinc finger protein 418 isoform a NP_001303956.1:p.Pro77= NP_001303956.1:p.Pro77Leu
zinc finger protein 418 isoform X5 XP_016881799.1:p.Pro57= XP_016881799.1:p.Pro57Leu
zinc finger protein 418 isoform b NP_001303957.1:p.Pro57= NP_001303957.1:p.Pro57Leu
zinc finger protein 418 isoform c NP_001303958.1:p.Pro56= NP_001303958.1:p.Pro56Leu
zinc finger protein 418 isoform X5 XP_016881800.1:p.Pro57= XP_016881800.1:p.Pro57Leu
zinc finger protein 418 isoform X6 XP_047294173.1:p.Pro56= XP_047294173.1:p.Pro56Leu
zinc finger protein 418 isoform X2 XP_047294155.1:p.Pro76= XP_047294155.1:p.Pro76Leu
zinc finger protein 418 isoform X1 XP_047294151.1:p.Pro77= XP_047294151.1:p.Pro77Leu
zinc finger protein 418 isoform X1 XP_047294152.1:p.Pro77= XP_047294152.1:p.Pro77Leu
zinc finger protein 418 isoform X1 XP_047294153.1:p.Pro77= XP_047294153.1:p.Pro77Leu
zinc finger protein 418 isoform X7 XP_047294174.1:p.Pro77= XP_047294174.1:p.Pro77Leu
zinc finger protein 418 isoform X1 XP_047294154.1:p.Pro77= XP_047294154.1:p.Pro77Leu
zinc finger protein 418 isoform X5 XP_047294164.1:p.Pro57= XP_047294164.1:p.Pro57Leu
zinc finger protein 418 isoform X5 XP_047294165.1:p.Pro57= XP_047294165.1:p.Pro57Leu
zinc finger protein 418 isoform X6 XP_047294167.1:p.Pro56= XP_047294167.1:p.Pro56Leu
zinc finger protein 418 isoform X6 XP_047294166.1:p.Pro56= XP_047294166.1:p.Pro56Leu
zinc finger protein 418 isoform X6 XP_047294168.1:p.Pro56= XP_047294168.1:p.Pro56Leu
zinc finger protein 418 isoform X4 XP_047294157.1:p.Pro65= XP_047294157.1:p.Pro65Leu
zinc finger protein 418 isoform X5 XP_047294160.1:p.Pro57= XP_047294160.1:p.Pro57Leu
zinc finger protein 418 isoform X5 XP_047294159.1:p.Pro57= XP_047294159.1:p.Pro57Leu
zinc finger protein 418 isoform X8 XP_047294175.1:p.Pro23= XP_047294175.1:p.Pro23Leu
zinc finger protein 418 isoform X5 XP_047294162.1:p.Pro57= XP_047294162.1:p.Pro57Leu
zinc finger protein 418 isoform X6 XP_047294170.1:p.Pro56= XP_047294170.1:p.Pro56Leu
zinc finger protein 418 isoform X6 XP_047294171.1:p.Pro56= XP_047294171.1:p.Pro56Leu
zinc finger protein 418 isoform X4 XP_047294158.1:p.Pro65= XP_047294158.1:p.Pro65Leu
zinc finger protein 418 isoform X8 XP_047294177.1:p.Pro23= XP_047294177.1:p.Pro23Leu
zinc finger protein 418 isoform X8 XP_047294176.1:p.Pro23= XP_047294176.1:p.Pro23Leu
zinc finger protein 418 isoform X5 XP_047294161.1:p.Pro57= XP_047294161.1:p.Pro57Leu
zinc finger protein 418 isoform X6 XP_047294172.1:p.Pro56= XP_047294172.1:p.Pro56Leu
zinc finger protein 418 isoform X5 XP_047294163.1:p.Pro57= XP_047294163.1:p.Pro57Leu
zinc finger protein 418 isoform X3 XP_047294156.1:p.Pro66= XP_047294156.1:p.Pro66Leu
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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#.

2 SubSNP, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss4333719503 Apr 27, 2021 (155)
2 TOPMED ss5079545558 Apr 27, 2021 (155)
3 gnomAD - Genomes NC_000019.10 - 57928014 Apr 27, 2021 (155)
4 TopMed NC_000019.10 - 57928014 Apr 27, 2021 (155)
5 ALFA NC_000019.10 - 57928014 Apr 27, 2021 (155)
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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
544212394, 295091222, 8247542442, ss4333719503, ss5079545558 NC_000019.10:57928013:G:A NC_000019.10:57928013:G:A (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1483860922

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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
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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