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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.

rs202054246

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr19:51975430-51975452 (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
del(A)9 / del(A)8 / del(A)7 / del(…

del(A)9 / del(A)8 / del(A)7 / del(A)6 / del(A)5 / del(A)4 / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)4 / dup(A)5 / dup(A)6 / dup(A)7 / dup(A)8 / dup(A)9 / dup(A)10 / dup(A)11 / ins(A)28 / ins(A)30 / ins(A)32 / ins(A)44

Variation Type
Indel Insertion and Deletion
Frequency
dupA=0.2567 (1636/6374, ALFA)
dupA=0.0917 (459/5008, 1000G)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ZNF350 : Intron Variant
ZNF350-AS1 : Intron 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 6374 AAAAAAAAAAAAAAAAAAAAAAA=0.6017 AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.2567, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0424, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0047, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0886, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0053, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0006, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 0.649179 0.199039 0.151782 32
European Sub 5594 AAAAAAAAAAAAAAAAAAAAAAA=0.5472 AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.2917, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0481, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0054, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.1008, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0061, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0007, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 0.585586 0.235183 0.179232 32
African Sub 422 AAAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Others Sub 18 AAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African American Sub 404 AAAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Asian Sub 46 AAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
East Asian Sub 34 AAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 12 AAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 18 AAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 202 AAAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 8 AAAAAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Other Sub 84 AAAAAAAAAAAAAAAAAAAAAAA=0.93 AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.05, AAAAAAAAAAAAAAAAAAAAAAAAA=0.01, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.01, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 0.95 0.025 0.025 10


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
Allele Frequency Aggregator Total Global 6374 (A)23=0.6017 del(A)9=0.0000, del(A)8=0.0000, del(A)7=0.0000, del(A)6=0.0000, del(A)5=0.0000, del(A)4=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.2567, dupAA=0.0424, dupAAA=0.0047, dup(A)4=0.0886, dup(A)5=0.0053, dup(A)6=0.0000, dup(A)7=0.0000, ins(A)30=0.0006
Allele Frequency Aggregator European Sub 5594 (A)23=0.5472 del(A)9=0.0000, del(A)8=0.0000, del(A)7=0.0000, del(A)6=0.0000, del(A)5=0.0000, del(A)4=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.2917, dupAA=0.0481, dupAAA=0.0054, dup(A)4=0.1008, dup(A)5=0.0061, dup(A)6=0.0000, dup(A)7=0.0000, ins(A)30=0.0007
Allele Frequency Aggregator African Sub 422 (A)23=1.000 del(A)9=0.000, del(A)8=0.000, del(A)7=0.000, del(A)6=0.000, del(A)5=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)4=0.000, dup(A)5=0.000, dup(A)6=0.000, dup(A)7=0.000, ins(A)30=0.000
Allele Frequency Aggregator Latin American 2 Sub 202 (A)23=1.000 del(A)9=0.000, del(A)8=0.000, del(A)7=0.000, del(A)6=0.000, del(A)5=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)4=0.000, dup(A)5=0.000, dup(A)6=0.000, dup(A)7=0.000, ins(A)30=0.000
Allele Frequency Aggregator Other Sub 84 (A)23=0.93 del(A)9=0.00, del(A)8=0.00, del(A)7=0.00, del(A)6=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.05, dupAA=0.01, dupAAA=0.00, dup(A)4=0.01, dup(A)5=0.00, dup(A)6=0.00, dup(A)7=0.00, ins(A)30=0.00
Allele Frequency Aggregator Asian Sub 46 (A)23=1.00 del(A)9=0.00, del(A)8=0.00, del(A)7=0.00, del(A)6=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00, dup(A)5=0.00, dup(A)6=0.00, dup(A)7=0.00, ins(A)30=0.00
Allele Frequency Aggregator Latin American 1 Sub 18 (A)23=1.00 del(A)9=0.00, del(A)8=0.00, del(A)7=0.00, del(A)6=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00, dup(A)5=0.00, dup(A)6=0.00, dup(A)7=0.00, ins(A)30=0.00
Allele Frequency Aggregator South Asian Sub 8 (A)23=1.0 del(A)9=0.0, del(A)8=0.0, del(A)7=0.0, del(A)6=0.0, del(A)5=0.0, del(A)4=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)4=0.0, dup(A)5=0.0, dup(A)6=0.0, dup(A)7=0.0, ins(A)30=0.0
1000Genomes Global Study-wide 5008 -

No frequency provided

dupA=0.0917
1000Genomes African Sub 1322 -

No frequency provided

dupA=0.1589
1000Genomes East Asian Sub 1008 -

No frequency provided

dupA=0.0040
1000Genomes Europe Sub 1006 -

No frequency provided

dupA=0.1044
1000Genomes South Asian Sub 978 -

No frequency provided

dupA=0.082
1000Genomes American Sub 694 -

No frequency provided

dupA=0.086
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.51975444_51975452del
GRCh38.p14 chr 19 NC_000019.10:g.51975445_51975452del
GRCh38.p14 chr 19 NC_000019.10:g.51975446_51975452del
GRCh38.p14 chr 19 NC_000019.10:g.51975447_51975452del
GRCh38.p14 chr 19 NC_000019.10:g.51975448_51975452del
GRCh38.p14 chr 19 NC_000019.10:g.51975449_51975452del
GRCh38.p14 chr 19 NC_000019.10:g.51975450_51975452del
GRCh38.p14 chr 19 NC_000019.10:g.51975451_51975452del
GRCh38.p14 chr 19 NC_000019.10:g.51975452del
GRCh38.p14 chr 19 NC_000019.10:g.51975452dup
GRCh38.p14 chr 19 NC_000019.10:g.51975451_51975452dup
GRCh38.p14 chr 19 NC_000019.10:g.51975450_51975452dup
GRCh38.p14 chr 19 NC_000019.10:g.51975449_51975452dup
GRCh38.p14 chr 19 NC_000019.10:g.51975448_51975452dup
GRCh38.p14 chr 19 NC_000019.10:g.51975447_51975452dup
GRCh38.p14 chr 19 NC_000019.10:g.51975446_51975452dup
GRCh38.p14 chr 19 NC_000019.10:g.51975445_51975452dup
GRCh38.p14 chr 19 NC_000019.10:g.51975444_51975452dup
GRCh38.p14 chr 19 NC_000019.10:g.51975443_51975452dup
GRCh38.p14 chr 19 NC_000019.10:g.51975442_51975452dup
GRCh38.p14 chr 19 NC_000019.10:g.51975452_51975453insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 19 NC_000019.10:g.51975452_51975453insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 19 NC_000019.10:g.51975452_51975453insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 19 NC_000019.10:g.51975452_51975453insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 19 NC_000019.9:g.52478697_52478705del
GRCh37.p13 chr 19 NC_000019.9:g.52478698_52478705del
GRCh37.p13 chr 19 NC_000019.9:g.52478699_52478705del
GRCh37.p13 chr 19 NC_000019.9:g.52478700_52478705del
GRCh37.p13 chr 19 NC_000019.9:g.52478701_52478705del
GRCh37.p13 chr 19 NC_000019.9:g.52478702_52478705del
GRCh37.p13 chr 19 NC_000019.9:g.52478703_52478705del
GRCh37.p13 chr 19 NC_000019.9:g.52478704_52478705del
GRCh37.p13 chr 19 NC_000019.9:g.52478705del
GRCh37.p13 chr 19 NC_000019.9:g.52478705dup
GRCh37.p13 chr 19 NC_000019.9:g.52478704_52478705dup
GRCh37.p13 chr 19 NC_000019.9:g.52478703_52478705dup
GRCh37.p13 chr 19 NC_000019.9:g.52478702_52478705dup
GRCh37.p13 chr 19 NC_000019.9:g.52478701_52478705dup
GRCh37.p13 chr 19 NC_000019.9:g.52478700_52478705dup
GRCh37.p13 chr 19 NC_000019.9:g.52478699_52478705dup
GRCh37.p13 chr 19 NC_000019.9:g.52478698_52478705dup
GRCh37.p13 chr 19 NC_000019.9:g.52478697_52478705dup
GRCh37.p13 chr 19 NC_000019.9:g.52478696_52478705dup
GRCh37.p13 chr 19 NC_000019.9:g.52478695_52478705dup
GRCh37.p13 chr 19 NC_000019.9:g.52478705_52478706insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 19 NC_000019.9:g.52478705_52478706insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 19 NC_000019.9:g.52478705_52478706insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 19 NC_000019.9:g.52478705_52478706insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene: ZNF350, zinc finger protein 350 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ZNF350 transcript NM_021632.4:c.-171-907_-1…

NM_021632.4:c.-171-907_-171-899del

N/A Intron Variant
ZNF350 transcript variant X1 XM_017027094.2:c.-171-907…

XM_017027094.2:c.-171-907_-171-899del

N/A Intron Variant
ZNF350 transcript variant X4 XM_017027096.2:c.-171-907…

XM_017027096.2:c.-171-907_-171-899del

N/A Intron Variant
ZNF350 transcript variant X6 XM_017027098.2:c.-419-513…

XM_017027098.2:c.-419-513_-419-505del

N/A Intron Variant
ZNF350 transcript variant X8 XM_017027099.2:c.-419-513…

XM_017027099.2:c.-419-513_-419-505del

N/A Intron Variant
ZNF350 transcript variant X9 XM_017027100.1:c.-171-907…

XM_017027100.1:c.-171-907_-171-899del

N/A Intron Variant
ZNF350 transcript variant X2 XM_047439182.1:c.-419-513…

XM_047439182.1:c.-419-513_-419-505del

N/A Intron Variant
ZNF350 transcript variant X3 XM_047439183.1:c.-419-513…

XM_047439183.1:c.-419-513_-419-505del

N/A Intron Variant
ZNF350 transcript variant X5 XM_047439184.1:c.-419-513…

XM_047439184.1:c.-419-513_-419-505del

N/A Intron Variant
ZNF350 transcript variant X7 XM_047439185.1:c.-419-513…

XM_047439185.1:c.-419-513_-419-505del

N/A Intron Variant
ZNF350 transcript variant X10 XM_047439186.1:c. N/A Genic Upstream Transcript Variant
ZNF350 transcript variant X11 XM_047439187.1:c. N/A Genic Upstream Transcript Variant
ZNF350 transcript variant X12 XM_047439188.1:c. N/A Genic Upstream Transcript Variant
Gene: ZNF350-AS1, ZNF350 antisense RNA 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ZNF350-AS1 transcript NR_103847.1:n. N/A Intron 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 (A)23= del(A)9 del(A)8 del(A)7 del(A)6 del(A)5 del(A)4 delAAA delAA delA dupA dupAA dupAAA dup(A)4 dup(A)5 dup(A)6 dup(A)7 dup(A)8 dup(A)9 dup(A)10 dup(A)11 ins(A)28 ins(A)30 ins(A)32 ins(A)44
GRCh38.p14 chr 19 NC_000019.10:g.51975430_51975452= NC_000019.10:g.51975444_51975452del NC_000019.10:g.51975445_51975452del NC_000019.10:g.51975446_51975452del NC_000019.10:g.51975447_51975452del NC_000019.10:g.51975448_51975452del NC_000019.10:g.51975449_51975452del NC_000019.10:g.51975450_51975452del NC_000019.10:g.51975451_51975452del NC_000019.10:g.51975452del NC_000019.10:g.51975452dup NC_000019.10:g.51975451_51975452dup NC_000019.10:g.51975450_51975452dup NC_000019.10:g.51975449_51975452dup NC_000019.10:g.51975448_51975452dup NC_000019.10:g.51975447_51975452dup NC_000019.10:g.51975446_51975452dup NC_000019.10:g.51975445_51975452dup NC_000019.10:g.51975444_51975452dup NC_000019.10:g.51975443_51975452dup NC_000019.10:g.51975442_51975452dup NC_000019.10:g.51975452_51975453insAAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000019.10:g.51975452_51975453insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000019.10:g.51975452_51975453insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000019.10:g.51975452_51975453insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 19 NC_000019.9:g.52478683_52478705= NC_000019.9:g.52478697_52478705del NC_000019.9:g.52478698_52478705del NC_000019.9:g.52478699_52478705del NC_000019.9:g.52478700_52478705del NC_000019.9:g.52478701_52478705del NC_000019.9:g.52478702_52478705del NC_000019.9:g.52478703_52478705del NC_000019.9:g.52478704_52478705del NC_000019.9:g.52478705del NC_000019.9:g.52478705dup NC_000019.9:g.52478704_52478705dup NC_000019.9:g.52478703_52478705dup NC_000019.9:g.52478702_52478705dup NC_000019.9:g.52478701_52478705dup NC_000019.9:g.52478700_52478705dup NC_000019.9:g.52478699_52478705dup NC_000019.9:g.52478698_52478705dup NC_000019.9:g.52478697_52478705dup NC_000019.9:g.52478696_52478705dup NC_000019.9:g.52478695_52478705dup NC_000019.9:g.52478705_52478706insAAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000019.9:g.52478705_52478706insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000019.9:g.52478705_52478706insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000019.9:g.52478705_52478706insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
ZNF350 transcript NM_021632.3:c.-171-899= NM_021632.3:c.-171-907_-171-899del NM_021632.3:c.-171-906_-171-899del NM_021632.3:c.-171-905_-171-899del NM_021632.3:c.-171-904_-171-899del NM_021632.3:c.-171-903_-171-899del NM_021632.3:c.-171-902_-171-899del NM_021632.3:c.-171-901_-171-899del NM_021632.3:c.-171-900_-171-899del NM_021632.3:c.-171-899del NM_021632.3:c.-171-899dup NM_021632.3:c.-171-900_-171-899dup NM_021632.3:c.-171-901_-171-899dup NM_021632.3:c.-171-902_-171-899dup NM_021632.3:c.-171-903_-171-899dup NM_021632.3:c.-171-904_-171-899dup NM_021632.3:c.-171-905_-171-899dup NM_021632.3:c.-171-906_-171-899dup NM_021632.3:c.-171-907_-171-899dup NM_021632.3:c.-171-908_-171-899dup NM_021632.3:c.-171-909_-171-899dup NM_021632.3:c.-171-899_-171-898insTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_021632.3:c.-171-899_-171-898insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_021632.3:c.-171-899_-171-898insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_021632.3:c.-171-899_-171-898insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ZNF350 transcript NM_021632.4:c.-171-899= NM_021632.4:c.-171-907_-171-899del NM_021632.4:c.-171-906_-171-899del NM_021632.4:c.-171-905_-171-899del NM_021632.4:c.-171-904_-171-899del NM_021632.4:c.-171-903_-171-899del NM_021632.4:c.-171-902_-171-899del NM_021632.4:c.-171-901_-171-899del NM_021632.4:c.-171-900_-171-899del NM_021632.4:c.-171-899del NM_021632.4:c.-171-899dup NM_021632.4:c.-171-900_-171-899dup NM_021632.4:c.-171-901_-171-899dup NM_021632.4:c.-171-902_-171-899dup NM_021632.4:c.-171-903_-171-899dup NM_021632.4:c.-171-904_-171-899dup NM_021632.4:c.-171-905_-171-899dup NM_021632.4:c.-171-906_-171-899dup NM_021632.4:c.-171-907_-171-899dup NM_021632.4:c.-171-908_-171-899dup NM_021632.4:c.-171-909_-171-899dup NM_021632.4:c.-171-899_-171-898insTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_021632.4:c.-171-899_-171-898insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_021632.4:c.-171-899_-171-898insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_021632.4:c.-171-899_-171-898insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ZNF350 transcript variant X1 XM_017027094.2:c.-171-899= XM_017027094.2:c.-171-907_-171-899del XM_017027094.2:c.-171-906_-171-899del XM_017027094.2:c.-171-905_-171-899del XM_017027094.2:c.-171-904_-171-899del XM_017027094.2:c.-171-903_-171-899del XM_017027094.2:c.-171-902_-171-899del XM_017027094.2:c.-171-901_-171-899del XM_017027094.2:c.-171-900_-171-899del XM_017027094.2:c.-171-899del XM_017027094.2:c.-171-899dup XM_017027094.2:c.-171-900_-171-899dup XM_017027094.2:c.-171-901_-171-899dup XM_017027094.2:c.-171-902_-171-899dup XM_017027094.2:c.-171-903_-171-899dup XM_017027094.2:c.-171-904_-171-899dup XM_017027094.2:c.-171-905_-171-899dup XM_017027094.2:c.-171-906_-171-899dup XM_017027094.2:c.-171-907_-171-899dup XM_017027094.2:c.-171-908_-171-899dup XM_017027094.2:c.-171-909_-171-899dup XM_017027094.2:c.-171-899_-171-898insTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_017027094.2:c.-171-899_-171-898insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_017027094.2:c.-171-899_-171-898insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_017027094.2:c.-171-899_-171-898insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ZNF350 transcript variant X4 XM_017027096.2:c.-171-899= XM_017027096.2:c.-171-907_-171-899del XM_017027096.2:c.-171-906_-171-899del XM_017027096.2:c.-171-905_-171-899del XM_017027096.2:c.-171-904_-171-899del XM_017027096.2:c.-171-903_-171-899del XM_017027096.2:c.-171-902_-171-899del XM_017027096.2:c.-171-901_-171-899del XM_017027096.2:c.-171-900_-171-899del XM_017027096.2:c.-171-899del XM_017027096.2:c.-171-899dup XM_017027096.2:c.-171-900_-171-899dup XM_017027096.2:c.-171-901_-171-899dup XM_017027096.2:c.-171-902_-171-899dup XM_017027096.2:c.-171-903_-171-899dup XM_017027096.2:c.-171-904_-171-899dup XM_017027096.2:c.-171-905_-171-899dup XM_017027096.2:c.-171-906_-171-899dup XM_017027096.2:c.-171-907_-171-899dup XM_017027096.2:c.-171-908_-171-899dup XM_017027096.2:c.-171-909_-171-899dup XM_017027096.2:c.-171-899_-171-898insTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_017027096.2:c.-171-899_-171-898insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_017027096.2:c.-171-899_-171-898insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_017027096.2:c.-171-899_-171-898insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ZNF350 transcript variant X6 XM_017027098.2:c.-419-505= XM_017027098.2:c.-419-513_-419-505del XM_017027098.2:c.-419-512_-419-505del XM_017027098.2:c.-419-511_-419-505del XM_017027098.2:c.-419-510_-419-505del XM_017027098.2:c.-419-509_-419-505del XM_017027098.2:c.-419-508_-419-505del XM_017027098.2:c.-419-507_-419-505del XM_017027098.2:c.-419-506_-419-505del XM_017027098.2:c.-419-505del XM_017027098.2:c.-419-505dup XM_017027098.2:c.-419-506_-419-505dup XM_017027098.2:c.-419-507_-419-505dup XM_017027098.2:c.-419-508_-419-505dup XM_017027098.2:c.-419-509_-419-505dup XM_017027098.2:c.-419-510_-419-505dup XM_017027098.2:c.-419-511_-419-505dup XM_017027098.2:c.-419-512_-419-505dup XM_017027098.2:c.-419-513_-419-505dup XM_017027098.2:c.-419-514_-419-505dup XM_017027098.2:c.-419-515_-419-505dup XM_017027098.2:c.-419-505_-419-504insTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_017027098.2:c.-419-505_-419-504insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_017027098.2:c.-419-505_-419-504insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_017027098.2:c.-419-505_-419-504insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ZNF350 transcript variant X8 XM_017027099.2:c.-419-505= XM_017027099.2:c.-419-513_-419-505del XM_017027099.2:c.-419-512_-419-505del XM_017027099.2:c.-419-511_-419-505del XM_017027099.2:c.-419-510_-419-505del XM_017027099.2:c.-419-509_-419-505del XM_017027099.2:c.-419-508_-419-505del XM_017027099.2:c.-419-507_-419-505del XM_017027099.2:c.-419-506_-419-505del XM_017027099.2:c.-419-505del XM_017027099.2:c.-419-505dup XM_017027099.2:c.-419-506_-419-505dup XM_017027099.2:c.-419-507_-419-505dup XM_017027099.2:c.-419-508_-419-505dup XM_017027099.2:c.-419-509_-419-505dup XM_017027099.2:c.-419-510_-419-505dup XM_017027099.2:c.-419-511_-419-505dup XM_017027099.2:c.-419-512_-419-505dup XM_017027099.2:c.-419-513_-419-505dup XM_017027099.2:c.-419-514_-419-505dup XM_017027099.2:c.-419-515_-419-505dup XM_017027099.2:c.-419-505_-419-504insTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_017027099.2:c.-419-505_-419-504insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_017027099.2:c.-419-505_-419-504insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_017027099.2:c.-419-505_-419-504insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ZNF350 transcript variant X9 XM_017027100.1:c.-171-899= XM_017027100.1:c.-171-907_-171-899del XM_017027100.1:c.-171-906_-171-899del XM_017027100.1:c.-171-905_-171-899del XM_017027100.1:c.-171-904_-171-899del XM_017027100.1:c.-171-903_-171-899del XM_017027100.1:c.-171-902_-171-899del XM_017027100.1:c.-171-901_-171-899del XM_017027100.1:c.-171-900_-171-899del XM_017027100.1:c.-171-899del XM_017027100.1:c.-171-899dup XM_017027100.1:c.-171-900_-171-899dup XM_017027100.1:c.-171-901_-171-899dup XM_017027100.1:c.-171-902_-171-899dup XM_017027100.1:c.-171-903_-171-899dup XM_017027100.1:c.-171-904_-171-899dup XM_017027100.1:c.-171-905_-171-899dup XM_017027100.1:c.-171-906_-171-899dup XM_017027100.1:c.-171-907_-171-899dup XM_017027100.1:c.-171-908_-171-899dup XM_017027100.1:c.-171-909_-171-899dup XM_017027100.1:c.-171-899_-171-898insTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_017027100.1:c.-171-899_-171-898insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_017027100.1:c.-171-899_-171-898insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_017027100.1:c.-171-899_-171-898insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ZNF350 transcript variant X2 XM_047439182.1:c.-419-505= XM_047439182.1:c.-419-513_-419-505del XM_047439182.1:c.-419-512_-419-505del XM_047439182.1:c.-419-511_-419-505del XM_047439182.1:c.-419-510_-419-505del XM_047439182.1:c.-419-509_-419-505del XM_047439182.1:c.-419-508_-419-505del XM_047439182.1:c.-419-507_-419-505del XM_047439182.1:c.-419-506_-419-505del XM_047439182.1:c.-419-505del XM_047439182.1:c.-419-505dup XM_047439182.1:c.-419-506_-419-505dup XM_047439182.1:c.-419-507_-419-505dup XM_047439182.1:c.-419-508_-419-505dup XM_047439182.1:c.-419-509_-419-505dup XM_047439182.1:c.-419-510_-419-505dup XM_047439182.1:c.-419-511_-419-505dup XM_047439182.1:c.-419-512_-419-505dup XM_047439182.1:c.-419-513_-419-505dup XM_047439182.1:c.-419-514_-419-505dup XM_047439182.1:c.-419-515_-419-505dup XM_047439182.1:c.-419-505_-419-504insTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_047439182.1:c.-419-505_-419-504insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_047439182.1:c.-419-505_-419-504insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_047439182.1:c.-419-505_-419-504insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ZNF350 transcript variant X3 XM_047439183.1:c.-419-505= XM_047439183.1:c.-419-513_-419-505del XM_047439183.1:c.-419-512_-419-505del XM_047439183.1:c.-419-511_-419-505del XM_047439183.1:c.-419-510_-419-505del XM_047439183.1:c.-419-509_-419-505del XM_047439183.1:c.-419-508_-419-505del XM_047439183.1:c.-419-507_-419-505del XM_047439183.1:c.-419-506_-419-505del XM_047439183.1:c.-419-505del XM_047439183.1:c.-419-505dup XM_047439183.1:c.-419-506_-419-505dup XM_047439183.1:c.-419-507_-419-505dup XM_047439183.1:c.-419-508_-419-505dup XM_047439183.1:c.-419-509_-419-505dup XM_047439183.1:c.-419-510_-419-505dup XM_047439183.1:c.-419-511_-419-505dup XM_047439183.1:c.-419-512_-419-505dup XM_047439183.1:c.-419-513_-419-505dup XM_047439183.1:c.-419-514_-419-505dup XM_047439183.1:c.-419-515_-419-505dup XM_047439183.1:c.-419-505_-419-504insTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_047439183.1:c.-419-505_-419-504insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_047439183.1:c.-419-505_-419-504insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_047439183.1:c.-419-505_-419-504insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ZNF350 transcript variant X5 XM_047439184.1:c.-419-505= XM_047439184.1:c.-419-513_-419-505del XM_047439184.1:c.-419-512_-419-505del XM_047439184.1:c.-419-511_-419-505del XM_047439184.1:c.-419-510_-419-505del XM_047439184.1:c.-419-509_-419-505del XM_047439184.1:c.-419-508_-419-505del XM_047439184.1:c.-419-507_-419-505del XM_047439184.1:c.-419-506_-419-505del XM_047439184.1:c.-419-505del XM_047439184.1:c.-419-505dup XM_047439184.1:c.-419-506_-419-505dup XM_047439184.1:c.-419-507_-419-505dup XM_047439184.1:c.-419-508_-419-505dup XM_047439184.1:c.-419-509_-419-505dup XM_047439184.1:c.-419-510_-419-505dup XM_047439184.1:c.-419-511_-419-505dup XM_047439184.1:c.-419-512_-419-505dup XM_047439184.1:c.-419-513_-419-505dup XM_047439184.1:c.-419-514_-419-505dup XM_047439184.1:c.-419-515_-419-505dup XM_047439184.1:c.-419-505_-419-504insTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_047439184.1:c.-419-505_-419-504insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_047439184.1:c.-419-505_-419-504insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_047439184.1:c.-419-505_-419-504insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ZNF350 transcript variant X7 XM_047439185.1:c.-419-505= XM_047439185.1:c.-419-513_-419-505del XM_047439185.1:c.-419-512_-419-505del XM_047439185.1:c.-419-511_-419-505del XM_047439185.1:c.-419-510_-419-505del XM_047439185.1:c.-419-509_-419-505del XM_047439185.1:c.-419-508_-419-505del XM_047439185.1:c.-419-507_-419-505del XM_047439185.1:c.-419-506_-419-505del XM_047439185.1:c.-419-505del XM_047439185.1:c.-419-505dup XM_047439185.1:c.-419-506_-419-505dup XM_047439185.1:c.-419-507_-419-505dup XM_047439185.1:c.-419-508_-419-505dup XM_047439185.1:c.-419-509_-419-505dup XM_047439185.1:c.-419-510_-419-505dup XM_047439185.1:c.-419-511_-419-505dup XM_047439185.1:c.-419-512_-419-505dup XM_047439185.1:c.-419-513_-419-505dup XM_047439185.1:c.-419-514_-419-505dup XM_047439185.1:c.-419-515_-419-505dup XM_047439185.1:c.-419-505_-419-504insTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_047439185.1:c.-419-505_-419-504insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_047439185.1:c.-419-505_-419-504insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_047439185.1:c.-419-505_-419-504insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
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#.

82 SubSNP, 45 Frequency submissions
No Submitter Submission ID Date (Build)
1 GMI ss289393553 May 04, 2012 (137)
2 BILGI_BIOE ss666734882 Apr 25, 2013 (138)
3 1000GENOMES ss1378245764 Aug 21, 2014 (142)
4 EVA_UK10K_ALSPAC ss1709241751 Apr 01, 2015 (144)
5 EVA_UK10K_ALSPAC ss1709241753 Apr 01, 2015 (144)
6 EVA_UK10K_TWINSUK ss1709241934 Apr 01, 2015 (144)
7 EVA_UK10K_TWINSUK ss1709241935 Apr 01, 2015 (144)
8 SWEGEN ss3017638399 Nov 08, 2017 (151)
9 SWEGEN ss3017638400 Nov 08, 2017 (151)
10 SWEGEN ss3017638401 Nov 08, 2017 (151)
11 SWEGEN ss3017638402 Nov 08, 2017 (151)
12 SWEGEN ss3017638403 Nov 08, 2017 (151)
13 MCHAISSO ss3063920158 Nov 08, 2017 (151)
14 EVA_DECODE ss3702960571 Jul 13, 2019 (153)
15 EVA_DECODE ss3702960572 Jul 13, 2019 (153)
16 EVA_DECODE ss3702960573 Jul 13, 2019 (153)
17 EVA_DECODE ss3702960574 Jul 13, 2019 (153)
18 EVA_DECODE ss3702960575 Jul 13, 2019 (153)
19 PACBIO ss3788558850 Jul 13, 2019 (153)
20 PACBIO ss3793464345 Jul 13, 2019 (153)
21 PACBIO ss3793464346 Jul 13, 2019 (153)
22 PACBIO ss3793464347 Jul 13, 2019 (153)
23 PACBIO ss3793464348 Jul 13, 2019 (153)
24 PACBIO ss3798351295 Jul 13, 2019 (153)
25 PACBIO ss3798351296 Jul 13, 2019 (153)
26 PACBIO ss3798351297 Jul 13, 2019 (153)
27 PACBIO ss3798351298 Jul 13, 2019 (153)
28 KHV_HUMAN_GENOMES ss3821426979 Jul 13, 2019 (153)
29 EVA ss3835511757 Apr 27, 2020 (154)
30 KOGIC ss3981571285 Apr 27, 2020 (154)
31 KOGIC ss3981571286 Apr 27, 2020 (154)
32 KOGIC ss3981571287 Apr 27, 2020 (154)
33 KOGIC ss3981571288 Apr 27, 2020 (154)
34 KOGIC ss3981571289 Apr 27, 2020 (154)
35 KOGIC ss3981571290 Apr 27, 2020 (154)
36 GNOMAD ss4332882444 Apr 27, 2021 (155)
37 GNOMAD ss4332882445 Apr 27, 2021 (155)
38 GNOMAD ss4332882446 Apr 27, 2021 (155)
39 GNOMAD ss4332882447 Apr 27, 2021 (155)
40 GNOMAD ss4332882448 Apr 27, 2021 (155)
41 GNOMAD ss4332882449 Apr 27, 2021 (155)
42 GNOMAD ss4332882450 Apr 27, 2021 (155)
43 GNOMAD ss4332882451 Apr 27, 2021 (155)
44 GNOMAD ss4332882452 Apr 27, 2021 (155)
45 GNOMAD ss4332882453 Apr 27, 2021 (155)
46 GNOMAD ss4332882454 Apr 27, 2021 (155)
47 GNOMAD ss4332882455 Apr 27, 2021 (155)
48 GNOMAD ss4332882456 Apr 27, 2021 (155)
49 GNOMAD ss4332882457 Apr 27, 2021 (155)
50 GNOMAD ss4332882461 Apr 27, 2021 (155)
51 GNOMAD ss4332882462 Apr 27, 2021 (155)
52 GNOMAD ss4332882463 Apr 27, 2021 (155)
53 GNOMAD ss4332882464 Apr 27, 2021 (155)
54 GNOMAD ss4332882465 Apr 27, 2021 (155)
55 GNOMAD ss4332882466 Apr 27, 2021 (155)
56 GNOMAD ss4332882467 Apr 27, 2021 (155)
57 TOMMO_GENOMICS ss5228225949 Apr 27, 2021 (155)
58 TOMMO_GENOMICS ss5228225950 Apr 27, 2021 (155)
59 TOMMO_GENOMICS ss5228225951 Apr 27, 2021 (155)
60 TOMMO_GENOMICS ss5228225952 Apr 27, 2021 (155)
61 TOMMO_GENOMICS ss5228225953 Apr 27, 2021 (155)
62 TOMMO_GENOMICS ss5228225954 Apr 27, 2021 (155)
63 1000G_HIGH_COVERAGE ss5307603759 Oct 13, 2022 (156)
64 1000G_HIGH_COVERAGE ss5307603760 Oct 13, 2022 (156)
65 1000G_HIGH_COVERAGE ss5307603761 Oct 13, 2022 (156)
66 1000G_HIGH_COVERAGE ss5307603762 Oct 13, 2022 (156)
67 1000G_HIGH_COVERAGE ss5307603763 Oct 13, 2022 (156)
68 1000G_HIGH_COVERAGE ss5307603764 Oct 13, 2022 (156)
69 HUGCELL_USP ss5500068108 Oct 13, 2022 (156)
70 HUGCELL_USP ss5500068109 Oct 13, 2022 (156)
71 HUGCELL_USP ss5500068110 Oct 13, 2022 (156)
72 HUGCELL_USP ss5500068111 Oct 13, 2022 (156)
73 HUGCELL_USP ss5500068112 Oct 13, 2022 (156)
74 HUGCELL_USP ss5500068113 Oct 13, 2022 (156)
75 TOMMO_GENOMICS ss5787017915 Oct 13, 2022 (156)
76 TOMMO_GENOMICS ss5787017916 Oct 13, 2022 (156)
77 TOMMO_GENOMICS ss5787017917 Oct 13, 2022 (156)
78 TOMMO_GENOMICS ss5787017918 Oct 13, 2022 (156)
79 TOMMO_GENOMICS ss5787017919 Oct 13, 2022 (156)
80 TOMMO_GENOMICS ss5787017920 Oct 13, 2022 (156)
81 EVA ss5840685567 Oct 13, 2022 (156)
82 EVA ss5840685568 Oct 13, 2022 (156)
83 1000Genomes NC_000019.9 - 52478683 Oct 12, 2018 (152)
84 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 42608811 (NC_000019.9:52478682::AA 2042/3854)
Row 42608812 (NC_000019.9:52478682::AAAA 573/3854)

- Oct 12, 2018 (152)
85 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 42608811 (NC_000019.9:52478682::AA 2042/3854)
Row 42608812 (NC_000019.9:52478682::AAAA 573/3854)

- Oct 12, 2018 (152)
86 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 542787473 (NC_000019.10:51975429::A 26915/81522)
Row 542787474 (NC_000019.10:51975429::AA 6244/81514)
Row 542787475 (NC_000019.10:51975429::AAA 4672/81628)...

- Apr 27, 2021 (155)
87 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 542787473 (NC_000019.10:51975429::A 26915/81522)
Row 542787474 (NC_000019.10:51975429::AA 6244/81514)
Row 542787475 (NC_000019.10:51975429::AAA 4672/81628)...

- Apr 27, 2021 (155)
88 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 542787473 (NC_000019.10:51975429::A 26915/81522)
Row 542787474 (NC_000019.10:51975429::AA 6244/81514)
Row 542787475 (NC_000019.10:51975429::AAA 4672/81628)...

- Apr 27, 2021 (155)
89 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 542787473 (NC_000019.10:51975429::A 26915/81522)
Row 542787474 (NC_000019.10:51975429::AA 6244/81514)
Row 542787475 (NC_000019.10:51975429::AAA 4672/81628)...

- Apr 27, 2021 (155)
90 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 542787473 (NC_000019.10:51975429::A 26915/81522)
Row 542787474 (NC_000019.10:51975429::AA 6244/81514)
Row 542787475 (NC_000019.10:51975429::AAA 4672/81628)...

- Apr 27, 2021 (155)
91 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 542787473 (NC_000019.10:51975429::A 26915/81522)
Row 542787474 (NC_000019.10:51975429::AA 6244/81514)
Row 542787475 (NC_000019.10:51975429::AAA 4672/81628)...

- Apr 27, 2021 (155)
92 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 542787473 (NC_000019.10:51975429::A 26915/81522)
Row 542787474 (NC_000019.10:51975429::AA 6244/81514)
Row 542787475 (NC_000019.10:51975429::AAA 4672/81628)...

- Apr 27, 2021 (155)
93 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 542787473 (NC_000019.10:51975429::A 26915/81522)
Row 542787474 (NC_000019.10:51975429::AA 6244/81514)
Row 542787475 (NC_000019.10:51975429::AAA 4672/81628)...

- Apr 27, 2021 (155)
94 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 542787473 (NC_000019.10:51975429::A 26915/81522)
Row 542787474 (NC_000019.10:51975429::AA 6244/81514)
Row 542787475 (NC_000019.10:51975429::AAA 4672/81628)...

- Apr 27, 2021 (155)
95 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 542787473 (NC_000019.10:51975429::A 26915/81522)
Row 542787474 (NC_000019.10:51975429::AA 6244/81514)
Row 542787475 (NC_000019.10:51975429::AAA 4672/81628)...

- Apr 27, 2021 (155)
96 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 542787473 (NC_000019.10:51975429::A 26915/81522)
Row 542787474 (NC_000019.10:51975429::AA 6244/81514)
Row 542787475 (NC_000019.10:51975429::AAA 4672/81628)...

- Apr 27, 2021 (155)
97 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 542787473 (NC_000019.10:51975429::A 26915/81522)
Row 542787474 (NC_000019.10:51975429::AA 6244/81514)
Row 542787475 (NC_000019.10:51975429::AAA 4672/81628)...

- Apr 27, 2021 (155)
98 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 542787473 (NC_000019.10:51975429::A 26915/81522)
Row 542787474 (NC_000019.10:51975429::AA 6244/81514)
Row 542787475 (NC_000019.10:51975429::AAA 4672/81628)...

- Apr 27, 2021 (155)
99 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 542787473 (NC_000019.10:51975429::A 26915/81522)
Row 542787474 (NC_000019.10:51975429::AA 6244/81514)
Row 542787475 (NC_000019.10:51975429::AAA 4672/81628)...

- Apr 27, 2021 (155)
100 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 542787473 (NC_000019.10:51975429::A 26915/81522)
Row 542787474 (NC_000019.10:51975429::AA 6244/81514)
Row 542787475 (NC_000019.10:51975429::AAA 4672/81628)...

- Apr 27, 2021 (155)
101 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 542787473 (NC_000019.10:51975429::A 26915/81522)
Row 542787474 (NC_000019.10:51975429::AA 6244/81514)
Row 542787475 (NC_000019.10:51975429::AAA 4672/81628)...

- Apr 27, 2021 (155)
102 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 542787473 (NC_000019.10:51975429::A 26915/81522)
Row 542787474 (NC_000019.10:51975429::AA 6244/81514)
Row 542787475 (NC_000019.10:51975429::AAA 4672/81628)...

- Apr 27, 2021 (155)
103 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 542787473 (NC_000019.10:51975429::A 26915/81522)
Row 542787474 (NC_000019.10:51975429::AA 6244/81514)
Row 542787475 (NC_000019.10:51975429::AAA 4672/81628)...

- Apr 27, 2021 (155)
104 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 542787473 (NC_000019.10:51975429::A 26915/81522)
Row 542787474 (NC_000019.10:51975429::AA 6244/81514)
Row 542787475 (NC_000019.10:51975429::AAA 4672/81628)...

- Apr 27, 2021 (155)
105 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 542787473 (NC_000019.10:51975429::A 26915/81522)
Row 542787474 (NC_000019.10:51975429::AA 6244/81514)
Row 542787475 (NC_000019.10:51975429::AAA 4672/81628)...

- Apr 27, 2021 (155)
106 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 542787473 (NC_000019.10:51975429::A 26915/81522)
Row 542787474 (NC_000019.10:51975429::AA 6244/81514)
Row 542787475 (NC_000019.10:51975429::AAA 4672/81628)...

- Apr 27, 2021 (155)
107 Korean Genome Project

Submission ignored due to conflicting rows:
Row 37949286 (NC_000019.10:51975437::AAAA 236/1826)
Row 37949287 (NC_000019.10:51975437::A 262/1826)
Row 37949288 (NC_000019.10:51975437::AA 126/1826)...

- Apr 27, 2020 (154)
108 Korean Genome Project

Submission ignored due to conflicting rows:
Row 37949286 (NC_000019.10:51975437::AAAA 236/1826)
Row 37949287 (NC_000019.10:51975437::A 262/1826)
Row 37949288 (NC_000019.10:51975437::AA 126/1826)...

- Apr 27, 2020 (154)
109 Korean Genome Project

Submission ignored due to conflicting rows:
Row 37949286 (NC_000019.10:51975437::AAAA 236/1826)
Row 37949287 (NC_000019.10:51975437::A 262/1826)
Row 37949288 (NC_000019.10:51975437::AA 126/1826)...

- Apr 27, 2020 (154)
110 Korean Genome Project

Submission ignored due to conflicting rows:
Row 37949286 (NC_000019.10:51975437::AAAA 236/1826)
Row 37949287 (NC_000019.10:51975437::A 262/1826)
Row 37949288 (NC_000019.10:51975437::AA 126/1826)...

- Apr 27, 2020 (154)
111 Korean Genome Project

Submission ignored due to conflicting rows:
Row 37949286 (NC_000019.10:51975437::AAAA 236/1826)
Row 37949287 (NC_000019.10:51975437::A 262/1826)
Row 37949288 (NC_000019.10:51975437::AA 126/1826)...

- Apr 27, 2020 (154)
112 Korean Genome Project

Submission ignored due to conflicting rows:
Row 37949286 (NC_000019.10:51975437::AAAA 236/1826)
Row 37949287 (NC_000019.10:51975437::A 262/1826)
Row 37949288 (NC_000019.10:51975437::AA 126/1826)...

- Apr 27, 2020 (154)
113 8.3KJPN

Submission ignored due to conflicting rows:
Row 86195256 (NC_000019.9:52478682::A 1639/16590)
Row 86195257 (NC_000019.9:52478682::AAAA 2702/16590)
Row 86195258 (NC_000019.9:52478682::AA 911/16590)...

- Apr 27, 2021 (155)
114 8.3KJPN

Submission ignored due to conflicting rows:
Row 86195256 (NC_000019.9:52478682::A 1639/16590)
Row 86195257 (NC_000019.9:52478682::AAAA 2702/16590)
Row 86195258 (NC_000019.9:52478682::AA 911/16590)...

- Apr 27, 2021 (155)
115 8.3KJPN

Submission ignored due to conflicting rows:
Row 86195256 (NC_000019.9:52478682::A 1639/16590)
Row 86195257 (NC_000019.9:52478682::AAAA 2702/16590)
Row 86195258 (NC_000019.9:52478682::AA 911/16590)...

- Apr 27, 2021 (155)
116 8.3KJPN

Submission ignored due to conflicting rows:
Row 86195256 (NC_000019.9:52478682::A 1639/16590)
Row 86195257 (NC_000019.9:52478682::AAAA 2702/16590)
Row 86195258 (NC_000019.9:52478682::AA 911/16590)...

- Apr 27, 2021 (155)
117 8.3KJPN

Submission ignored due to conflicting rows:
Row 86195256 (NC_000019.9:52478682::A 1639/16590)
Row 86195257 (NC_000019.9:52478682::AAAA 2702/16590)
Row 86195258 (NC_000019.9:52478682::AA 911/16590)...

- Apr 27, 2021 (155)
118 8.3KJPN

Submission ignored due to conflicting rows:
Row 86195256 (NC_000019.9:52478682::A 1639/16590)
Row 86195257 (NC_000019.9:52478682::AAAA 2702/16590)
Row 86195258 (NC_000019.9:52478682::AA 911/16590)...

- Apr 27, 2021 (155)
119 14KJPN

Submission ignored due to conflicting rows:
Row 120855019 (NC_000019.10:51975429::AAAA 4220/27956)
Row 120855020 (NC_000019.10:51975429::A 2568/27956)
Row 120855021 (NC_000019.10:51975429::AA 1429/27956)...

- Oct 13, 2022 (156)
120 14KJPN

Submission ignored due to conflicting rows:
Row 120855019 (NC_000019.10:51975429::AAAA 4220/27956)
Row 120855020 (NC_000019.10:51975429::A 2568/27956)
Row 120855021 (NC_000019.10:51975429::AA 1429/27956)...

- Oct 13, 2022 (156)
121 14KJPN

Submission ignored due to conflicting rows:
Row 120855019 (NC_000019.10:51975429::AAAA 4220/27956)
Row 120855020 (NC_000019.10:51975429::A 2568/27956)
Row 120855021 (NC_000019.10:51975429::AA 1429/27956)...

- Oct 13, 2022 (156)
122 14KJPN

Submission ignored due to conflicting rows:
Row 120855019 (NC_000019.10:51975429::AAAA 4220/27956)
Row 120855020 (NC_000019.10:51975429::A 2568/27956)
Row 120855021 (NC_000019.10:51975429::AA 1429/27956)...

- Oct 13, 2022 (156)
123 14KJPN

Submission ignored due to conflicting rows:
Row 120855019 (NC_000019.10:51975429::AAAA 4220/27956)
Row 120855020 (NC_000019.10:51975429::A 2568/27956)
Row 120855021 (NC_000019.10:51975429::AA 1429/27956)...

- Oct 13, 2022 (156)
124 14KJPN

Submission ignored due to conflicting rows:
Row 120855019 (NC_000019.10:51975429::AAAA 4220/27956)
Row 120855020 (NC_000019.10:51975429::A 2568/27956)
Row 120855021 (NC_000019.10:51975429::AA 1429/27956)...

- Oct 13, 2022 (156)
125 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 42608811 (NC_000019.9:52478682::AA 1960/3708)
Row 42608812 (NC_000019.9:52478682::AAAA 530/3708)

- Oct 12, 2018 (152)
126 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 42608811 (NC_000019.9:52478682::AA 1960/3708)
Row 42608812 (NC_000019.9:52478682::AAAA 530/3708)

- Oct 12, 2018 (152)
127 ALFA NC_000019.10 - 51975430 Apr 27, 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
2678335410 NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss289393553 NC_000019.8:57170494:AAAAAAAA: NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss5228225952 NC_000019.9:52478682:AAAAAAAA: NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3981571290, ss4332882467, ss5307603764, ss5787017919 NC_000019.10:51975429:AAAAAAAA: NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
2678335410 NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss4332882466 NC_000019.10:51975429:AAAAAAA: NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
2678335410 NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss4332882465 NC_000019.10:51975429:AAAAAA: NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
2678335410 NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss4332882464 NC_000019.10:51975429:AAAAA: NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
2678335410 NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss4332882463 NC_000019.10:51975429:AAAA: NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
2678335410 NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
2678335410 NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss4332882462 NC_000019.10:51975429:AA: NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
2678335410 NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss3702960575, ss4332882461, ss5500068113, ss5787017918 NC_000019.10:51975429:A: NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
2678335410 NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss3981571289 NC_000019.10:51975436:A: NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
76964447, ss666734882, ss1378245764, ss3017638399, ss3793464345, ss3798351295, ss5228225949 NC_000019.9:52478682::A NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3821426979, ss4332882444, ss5307603760, ss5500068108, ss5787017916 NC_000019.10:51975429::A NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
2678335410 NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3702960574 NC_000019.10:51975430::A NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3981571286 NC_000019.10:51975437::A NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss1709241751, ss1709241934, ss3017638400, ss5228225951, ss5840685567 NC_000019.9:52478682::AA NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4332882445, ss5307603759, ss5500068109, ss5787017917 NC_000019.10:51975429::AA NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
2678335410 NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3702960573 NC_000019.10:51975430::AA NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3981571287 NC_000019.10:51975437::AA NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3017638403, ss3793464346, ss3798351296 NC_000019.9:52478682::AAA NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4332882446, ss5307603762, ss5500068110 NC_000019.10:51975429::AAA NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
2678335410 NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3702960572 NC_000019.10:51975430::AAA NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss1709241753, ss1709241935, ss3017638401, ss3788558850, ss3793464347, ss3798351297, ss5228225950, ss5840685568 NC_000019.9:52478682::AAAA NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4332882447, ss5307603761, ss5500068111, ss5787017915 NC_000019.10:51975429::AAAA NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
2678335410 NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3702960571 NC_000019.10:51975430::AAAA NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3981571285 NC_000019.10:51975437::AAAA NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3017638402, ss3793464348, ss3798351298, ss3835511757, ss5228225954 NC_000019.9:52478682::AAAAA NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3063920158, ss4332882448, ss5307603763, ss5500068112 NC_000019.10:51975429::AAAAA NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
2678335410 NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3981571288 NC_000019.10:51975437::AAAAA NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss5228225953 NC_000019.9:52478682::AAAAAA NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4332882449, ss5787017920 NC_000019.10:51975429::AAAAAA NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
2678335410 NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4332882450 NC_000019.10:51975429::AAAAAAA NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
2678335410 NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4332882451 NC_000019.10:51975429::AAAAAAAA NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4332882452 NC_000019.10:51975429::AAAAAAAAA NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4332882453 NC_000019.10:51975429::AAAAAAAAAA NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4332882454 NC_000019.10:51975429::AAAAAAAAAAA NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4332882455 NC_000019.10:51975429::AAAAAAAAAAA…

NC_000019.10:51975429::AAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
2678335410 NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4332882456 NC_000019.10:51975429::AAAAAAAAAAA…

NC_000019.10:51975429::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4332882457 NC_000019.10:51975429::AAAAAAAAAAA…

NC_000019.10:51975429::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000019.10:51975429:AAAAAAAAAAAA…

NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(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 rs202054246

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