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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.

rs71181961

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr20:58308212-58308233 (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)13 / del(A)12 / del(A)11 / d…

del(A)13 / del(A)12 / del(A)11 / del(A)10 / 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)16

Variation Type
Indel Insertion and Deletion
Frequency
del(A)8=0.000147 (39/264690, TOPMED)
del(A)13=0.0000 (0/5938, ALFA)
del(A)12=0.0000 (0/5938, ALFA) (+ 19 more)
del(A)11=0.0000 (0/5938, ALFA)
del(A)10=0.0000 (0/5938, ALFA)
del(A)9=0.0000 (0/5938, ALFA)
del(A)8=0.0000 (0/5938, ALFA)
del(A)7=0.0000 (0/5938, ALFA)
del(A)6=0.0000 (0/5938, ALFA)
del(A)5=0.0000 (0/5938, ALFA)
del(A)4=0.0000 (0/5938, ALFA)
delAAA=0.0000 (0/5938, ALFA)
delAA=0.0000 (0/5938, ALFA)
delA=0.0000 (0/5938, ALFA)
dupA=0.0000 (0/5938, ALFA)
dupAA=0.0000 (0/5938, ALFA)
dupAAA=0.0000 (0/5938, ALFA)
dup(A)4=0.0000 (0/5938, ALFA)
dup(A)5=0.0000 (0/5938, ALFA)
dup(A)6=0.0000 (0/5938, ALFA)
(A)22=0.50 (20/40, GENOME_DK)
dup(A)16=0.50 (20/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RAB22A : 2KB Upstream Variant
PPP4R1L : 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 5938 AAAAAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
European Sub 5034 AAAAAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Sub 480 AAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Others Sub 16 AAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African American Sub 464 AAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Asian Sub 34 AAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
East Asian Sub 20 AAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 14 AAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 42 AAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 184 AAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 22 AAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 142 AAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=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 (A)22=0.999853 del(A)8=0.000147
Allele Frequency Aggregator Total Global 5938 (A)22=1.0000 del(A)13=0.0000, del(A)12=0.0000, del(A)11=0.0000, del(A)10=0.0000, 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=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)4=0.0000, dup(A)5=0.0000, dup(A)6=0.0000
Allele Frequency Aggregator European Sub 5034 (A)22=1.0000 del(A)13=0.0000, del(A)12=0.0000, del(A)11=0.0000, del(A)10=0.0000, 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=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)4=0.0000, dup(A)5=0.0000, dup(A)6=0.0000
Allele Frequency Aggregator African Sub 480 (A)22=1.000 del(A)13=0.000, del(A)12=0.000, del(A)11=0.000, del(A)10=0.000, 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
Allele Frequency Aggregator Latin American 2 Sub 184 (A)22=1.000 del(A)13=0.000, del(A)12=0.000, del(A)11=0.000, del(A)10=0.000, 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
Allele Frequency Aggregator Other Sub 142 (A)22=1.000 del(A)13=0.000, del(A)12=0.000, del(A)11=0.000, del(A)10=0.000, 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
Allele Frequency Aggregator Latin American 1 Sub 42 (A)22=1.00 del(A)13=0.00, del(A)12=0.00, del(A)11=0.00, del(A)10=0.00, 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
Allele Frequency Aggregator Asian Sub 34 (A)22=1.00 del(A)13=0.00, del(A)12=0.00, del(A)11=0.00, del(A)10=0.00, 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
Allele Frequency Aggregator South Asian Sub 22 (A)22=1.00 del(A)13=0.00, del(A)12=0.00, del(A)11=0.00, del(A)10=0.00, 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
The Danish reference pan genome Danish Study-wide 40 -

No frequency provided

dup(A)16=0.50
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 20 NC_000020.11:g.58308221_58308233del
GRCh38.p14 chr 20 NC_000020.11:g.58308222_58308233del
GRCh38.p14 chr 20 NC_000020.11:g.58308223_58308233del
GRCh38.p14 chr 20 NC_000020.11:g.58308224_58308233del
GRCh38.p14 chr 20 NC_000020.11:g.58308225_58308233del
GRCh38.p14 chr 20 NC_000020.11:g.58308226_58308233del
GRCh38.p14 chr 20 NC_000020.11:g.58308227_58308233del
GRCh38.p14 chr 20 NC_000020.11:g.58308228_58308233del
GRCh38.p14 chr 20 NC_000020.11:g.58308229_58308233del
GRCh38.p14 chr 20 NC_000020.11:g.58308230_58308233del
GRCh38.p14 chr 20 NC_000020.11:g.58308231_58308233del
GRCh38.p14 chr 20 NC_000020.11:g.58308232_58308233del
GRCh38.p14 chr 20 NC_000020.11:g.58308233del
GRCh38.p14 chr 20 NC_000020.11:g.58308233dup
GRCh38.p14 chr 20 NC_000020.11:g.58308232_58308233dup
GRCh38.p14 chr 20 NC_000020.11:g.58308231_58308233dup
GRCh38.p14 chr 20 NC_000020.11:g.58308230_58308233dup
GRCh38.p14 chr 20 NC_000020.11:g.58308229_58308233dup
GRCh38.p14 chr 20 NC_000020.11:g.58308228_58308233dup
GRCh38.p14 chr 20 NC_000020.11:g.58308227_58308233dup
GRCh38.p14 chr 20 NC_000020.11:g.58308226_58308233dup
GRCh38.p14 chr 20 NC_000020.11:g.58308218_58308233dup
GRCh37.p13 chr 20 NC_000020.10:g.56883277_56883289del
GRCh37.p13 chr 20 NC_000020.10:g.56883278_56883289del
GRCh37.p13 chr 20 NC_000020.10:g.56883279_56883289del
GRCh37.p13 chr 20 NC_000020.10:g.56883280_56883289del
GRCh37.p13 chr 20 NC_000020.10:g.56883281_56883289del
GRCh37.p13 chr 20 NC_000020.10:g.56883282_56883289del
GRCh37.p13 chr 20 NC_000020.10:g.56883283_56883289del
GRCh37.p13 chr 20 NC_000020.10:g.56883284_56883289del
GRCh37.p13 chr 20 NC_000020.10:g.56883285_56883289del
GRCh37.p13 chr 20 NC_000020.10:g.56883286_56883289del
GRCh37.p13 chr 20 NC_000020.10:g.56883287_56883289del
GRCh37.p13 chr 20 NC_000020.10:g.56883288_56883289del
GRCh37.p13 chr 20 NC_000020.10:g.56883289del
GRCh37.p13 chr 20 NC_000020.10:g.56883289dup
GRCh37.p13 chr 20 NC_000020.10:g.56883288_56883289dup
GRCh37.p13 chr 20 NC_000020.10:g.56883287_56883289dup
GRCh37.p13 chr 20 NC_000020.10:g.56883286_56883289dup
GRCh37.p13 chr 20 NC_000020.10:g.56883285_56883289dup
GRCh37.p13 chr 20 NC_000020.10:g.56883284_56883289dup
GRCh37.p13 chr 20 NC_000020.10:g.56883283_56883289dup
GRCh37.p13 chr 20 NC_000020.10:g.56883282_56883289dup
GRCh37.p13 chr 20 NC_000020.10:g.56883274_56883289dup
Gene: RAB22A, RAB22A, member RAS oncogene family (plus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
RAB22A transcript NM_020673.3:c. N/A Upstream Transcript Variant
Gene: PPP4R1L, protein phosphatase 4 regulatory subunit 1 like (pseudogene) (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PPP4R1L transcript NR_003505.3: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)22= del(A)13 del(A)12 del(A)11 del(A)10 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)16
GRCh38.p14 chr 20 NC_000020.11:g.58308212_58308233= NC_000020.11:g.58308221_58308233del NC_000020.11:g.58308222_58308233del NC_000020.11:g.58308223_58308233del NC_000020.11:g.58308224_58308233del NC_000020.11:g.58308225_58308233del NC_000020.11:g.58308226_58308233del NC_000020.11:g.58308227_58308233del NC_000020.11:g.58308228_58308233del NC_000020.11:g.58308229_58308233del NC_000020.11:g.58308230_58308233del NC_000020.11:g.58308231_58308233del NC_000020.11:g.58308232_58308233del NC_000020.11:g.58308233del NC_000020.11:g.58308233dup NC_000020.11:g.58308232_58308233dup NC_000020.11:g.58308231_58308233dup NC_000020.11:g.58308230_58308233dup NC_000020.11:g.58308229_58308233dup NC_000020.11:g.58308228_58308233dup NC_000020.11:g.58308227_58308233dup NC_000020.11:g.58308226_58308233dup NC_000020.11:g.58308218_58308233dup
GRCh37.p13 chr 20 NC_000020.10:g.56883268_56883289= NC_000020.10:g.56883277_56883289del NC_000020.10:g.56883278_56883289del NC_000020.10:g.56883279_56883289del NC_000020.10:g.56883280_56883289del NC_000020.10:g.56883281_56883289del NC_000020.10:g.56883282_56883289del NC_000020.10:g.56883283_56883289del NC_000020.10:g.56883284_56883289del NC_000020.10:g.56883285_56883289del NC_000020.10:g.56883286_56883289del NC_000020.10:g.56883287_56883289del NC_000020.10:g.56883288_56883289del NC_000020.10:g.56883289del NC_000020.10:g.56883289dup NC_000020.10:g.56883288_56883289dup NC_000020.10:g.56883287_56883289dup NC_000020.10:g.56883286_56883289dup NC_000020.10:g.56883285_56883289dup NC_000020.10:g.56883284_56883289dup NC_000020.10:g.56883283_56883289dup NC_000020.10:g.56883282_56883289dup NC_000020.10:g.56883274_56883289dup
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#.

47 SubSNP, 33 Frequency submissions
No Submitter Submission ID Date (Build)
1 HUMANGENOME_JCVI ss95744113 Feb 13, 2009 (130)
2 SSIP ss947406604 Aug 21, 2014 (142)
3 EVA_GENOME_DK ss1577897658 Apr 01, 2015 (144)
4 HAMMER_LAB ss1809565471 Sep 08, 2015 (146)
5 SWEGEN ss3018405135 Nov 08, 2017 (151)
6 SWEGEN ss3018405136 Nov 08, 2017 (151)
7 SWEGEN ss3018405137 Nov 08, 2017 (151)
8 SWEGEN ss3018405138 Nov 08, 2017 (151)
9 EVA ss3835742934 Apr 27, 2020 (154)
10 GNOMAD ss4355754482 Apr 26, 2021 (155)
11 GNOMAD ss4355754483 Apr 26, 2021 (155)
12 GNOMAD ss4355754484 Apr 26, 2021 (155)
13 GNOMAD ss4355754485 Apr 26, 2021 (155)
14 GNOMAD ss4355754486 Apr 26, 2021 (155)
15 GNOMAD ss4355754487 Apr 26, 2021 (155)
16 GNOMAD ss4355754488 Apr 26, 2021 (155)
17 GNOMAD ss4355754489 Apr 26, 2021 (155)
18 GNOMAD ss4355754491 Apr 26, 2021 (155)
19 GNOMAD ss4355754492 Apr 26, 2021 (155)
20 GNOMAD ss4355754493 Apr 26, 2021 (155)
21 GNOMAD ss4355754494 Apr 26, 2021 (155)
22 GNOMAD ss4355754495 Apr 26, 2021 (155)
23 GNOMAD ss4355754496 Apr 26, 2021 (155)
24 GNOMAD ss4355754497 Apr 26, 2021 (155)
25 GNOMAD ss4355754498 Apr 26, 2021 (155)
26 GNOMAD ss4355754499 Apr 26, 2021 (155)
27 GNOMAD ss4355754500 Apr 26, 2021 (155)
28 GNOMAD ss4355754501 Apr 26, 2021 (155)
29 TOPMED ss5093291571 Apr 26, 2021 (155)
30 TOMMO_GENOMICS ss5230272925 Apr 26, 2021 (155)
31 TOMMO_GENOMICS ss5230272926 Apr 26, 2021 (155)
32 TOMMO_GENOMICS ss5230272927 Apr 26, 2021 (155)
33 TOMMO_GENOMICS ss5230272928 Apr 26, 2021 (155)
34 TOMMO_GENOMICS ss5230272929 Apr 26, 2021 (155)
35 1000G_HIGH_COVERAGE ss5309284827 Oct 13, 2022 (156)
36 1000G_HIGH_COVERAGE ss5309284828 Oct 13, 2022 (156)
37 HUGCELL_USP ss5501518089 Oct 13, 2022 (156)
38 HUGCELL_USP ss5501518090 Oct 13, 2022 (156)
39 HUGCELL_USP ss5501518091 Oct 13, 2022 (156)
40 HUGCELL_USP ss5501518092 Oct 13, 2022 (156)
41 HUGCELL_USP ss5501518093 Oct 13, 2022 (156)
42 HUGCELL_USP ss5501518094 Oct 13, 2022 (156)
43 TOMMO_GENOMICS ss5790268121 Oct 13, 2022 (156)
44 TOMMO_GENOMICS ss5790268122 Oct 13, 2022 (156)
45 TOMMO_GENOMICS ss5790268123 Oct 13, 2022 (156)
46 TOMMO_GENOMICS ss5790268124 Oct 13, 2022 (156)
47 TOMMO_GENOMICS ss5790268125 Oct 13, 2022 (156)
48 The Danish reference pan genome NC_000020.10 - 56883268 Apr 27, 2020 (154)
49 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 555771365 (NC_000020.11:58308211::A 21312/57252)
Row 555771366 (NC_000020.11:58308211::AA 5473/56464)
Row 555771367 (NC_000020.11:58308211::AAA 4675/56430)...

- Apr 26, 2021 (155)
50 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 555771365 (NC_000020.11:58308211::A 21312/57252)
Row 555771366 (NC_000020.11:58308211::AA 5473/56464)
Row 555771367 (NC_000020.11:58308211::AAA 4675/56430)...

- Apr 26, 2021 (155)
51 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 555771365 (NC_000020.11:58308211::A 21312/57252)
Row 555771366 (NC_000020.11:58308211::AA 5473/56464)
Row 555771367 (NC_000020.11:58308211::AAA 4675/56430)...

- Apr 26, 2021 (155)
52 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 555771365 (NC_000020.11:58308211::A 21312/57252)
Row 555771366 (NC_000020.11:58308211::AA 5473/56464)
Row 555771367 (NC_000020.11:58308211::AAA 4675/56430)...

- Apr 26, 2021 (155)
53 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 555771365 (NC_000020.11:58308211::A 21312/57252)
Row 555771366 (NC_000020.11:58308211::AA 5473/56464)
Row 555771367 (NC_000020.11:58308211::AAA 4675/56430)...

- Apr 26, 2021 (155)
54 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 555771365 (NC_000020.11:58308211::A 21312/57252)
Row 555771366 (NC_000020.11:58308211::AA 5473/56464)
Row 555771367 (NC_000020.11:58308211::AAA 4675/56430)...

- Apr 26, 2021 (155)
55 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 555771365 (NC_000020.11:58308211::A 21312/57252)
Row 555771366 (NC_000020.11:58308211::AA 5473/56464)
Row 555771367 (NC_000020.11:58308211::AAA 4675/56430)...

- Apr 26, 2021 (155)
56 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 555771365 (NC_000020.11:58308211::A 21312/57252)
Row 555771366 (NC_000020.11:58308211::AA 5473/56464)
Row 555771367 (NC_000020.11:58308211::AAA 4675/56430)...

- Apr 26, 2021 (155)
57 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 555771365 (NC_000020.11:58308211::A 21312/57252)
Row 555771366 (NC_000020.11:58308211::AA 5473/56464)
Row 555771367 (NC_000020.11:58308211::AAA 4675/56430)...

- Apr 26, 2021 (155)
58 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 555771365 (NC_000020.11:58308211::A 21312/57252)
Row 555771366 (NC_000020.11:58308211::AA 5473/56464)
Row 555771367 (NC_000020.11:58308211::AAA 4675/56430)...

- Apr 26, 2021 (155)
59 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 555771365 (NC_000020.11:58308211::A 21312/57252)
Row 555771366 (NC_000020.11:58308211::AA 5473/56464)
Row 555771367 (NC_000020.11:58308211::AAA 4675/56430)...

- Apr 26, 2021 (155)
60 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 555771365 (NC_000020.11:58308211::A 21312/57252)
Row 555771366 (NC_000020.11:58308211::AA 5473/56464)
Row 555771367 (NC_000020.11:58308211::AAA 4675/56430)...

- Apr 26, 2021 (155)
61 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 555771365 (NC_000020.11:58308211::A 21312/57252)
Row 555771366 (NC_000020.11:58308211::AA 5473/56464)
Row 555771367 (NC_000020.11:58308211::AAA 4675/56430)...

- Apr 26, 2021 (155)
62 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 555771365 (NC_000020.11:58308211::A 21312/57252)
Row 555771366 (NC_000020.11:58308211::AA 5473/56464)
Row 555771367 (NC_000020.11:58308211::AAA 4675/56430)...

- Apr 26, 2021 (155)
63 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 555771365 (NC_000020.11:58308211::A 21312/57252)
Row 555771366 (NC_000020.11:58308211::AA 5473/56464)
Row 555771367 (NC_000020.11:58308211::AAA 4675/56430)...

- Apr 26, 2021 (155)
64 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 555771365 (NC_000020.11:58308211::A 21312/57252)
Row 555771366 (NC_000020.11:58308211::AA 5473/56464)
Row 555771367 (NC_000020.11:58308211::AAA 4675/56430)...

- Apr 26, 2021 (155)
65 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 555771365 (NC_000020.11:58308211::A 21312/57252)
Row 555771366 (NC_000020.11:58308211::AA 5473/56464)
Row 555771367 (NC_000020.11:58308211::AAA 4675/56430)...

- Apr 26, 2021 (155)
66 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 555771365 (NC_000020.11:58308211::A 21312/57252)
Row 555771366 (NC_000020.11:58308211::AA 5473/56464)
Row 555771367 (NC_000020.11:58308211::AAA 4675/56430)...

- Apr 26, 2021 (155)
67 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 555771365 (NC_000020.11:58308211::A 21312/57252)
Row 555771366 (NC_000020.11:58308211::AA 5473/56464)
Row 555771367 (NC_000020.11:58308211::AAA 4675/56430)...

- Apr 26, 2021 (155)
68 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 555771365 (NC_000020.11:58308211::A 21312/57252)
Row 555771366 (NC_000020.11:58308211::AA 5473/56464)
Row 555771367 (NC_000020.11:58308211::AAA 4675/56430)...

- Apr 26, 2021 (155)
69 8.3KJPN

Submission ignored due to conflicting rows:
Row 88242232 (NC_000020.10:56883267::A 3532/16030)
Row 88242233 (NC_000020.10:56883267:AAAA: 19/16030)
Row 88242234 (NC_000020.10:56883267::AA 559/16030)...

- Apr 26, 2021 (155)
70 8.3KJPN

Submission ignored due to conflicting rows:
Row 88242232 (NC_000020.10:56883267::A 3532/16030)
Row 88242233 (NC_000020.10:56883267:AAAA: 19/16030)
Row 88242234 (NC_000020.10:56883267::AA 559/16030)...

- Apr 26, 2021 (155)
71 8.3KJPN

Submission ignored due to conflicting rows:
Row 88242232 (NC_000020.10:56883267::A 3532/16030)
Row 88242233 (NC_000020.10:56883267:AAAA: 19/16030)
Row 88242234 (NC_000020.10:56883267::AA 559/16030)...

- Apr 26, 2021 (155)
72 8.3KJPN

Submission ignored due to conflicting rows:
Row 88242232 (NC_000020.10:56883267::A 3532/16030)
Row 88242233 (NC_000020.10:56883267:AAAA: 19/16030)
Row 88242234 (NC_000020.10:56883267::AA 559/16030)...

- Apr 26, 2021 (155)
73 8.3KJPN

Submission ignored due to conflicting rows:
Row 88242232 (NC_000020.10:56883267::A 3532/16030)
Row 88242233 (NC_000020.10:56883267:AAAA: 19/16030)
Row 88242234 (NC_000020.10:56883267::AA 559/16030)...

- Apr 26, 2021 (155)
74 14KJPN

Submission ignored due to conflicting rows:
Row 124105225 (NC_000020.11:58308211::A 6347/27574)
Row 124105226 (NC_000020.11:58308211::AA 887/27574)
Row 124105227 (NC_000020.11:58308211:AAAA: 33/27574)...

- Oct 13, 2022 (156)
75 14KJPN

Submission ignored due to conflicting rows:
Row 124105225 (NC_000020.11:58308211::A 6347/27574)
Row 124105226 (NC_000020.11:58308211::AA 887/27574)
Row 124105227 (NC_000020.11:58308211:AAAA: 33/27574)...

- Oct 13, 2022 (156)
76 14KJPN

Submission ignored due to conflicting rows:
Row 124105225 (NC_000020.11:58308211::A 6347/27574)
Row 124105226 (NC_000020.11:58308211::AA 887/27574)
Row 124105227 (NC_000020.11:58308211:AAAA: 33/27574)...

- Oct 13, 2022 (156)
77 14KJPN

Submission ignored due to conflicting rows:
Row 124105225 (NC_000020.11:58308211::A 6347/27574)
Row 124105226 (NC_000020.11:58308211::AA 887/27574)
Row 124105227 (NC_000020.11:58308211:AAAA: 33/27574)...

- Oct 13, 2022 (156)
78 14KJPN

Submission ignored due to conflicting rows:
Row 124105225 (NC_000020.11:58308211::A 6347/27574)
Row 124105226 (NC_000020.11:58308211::AA 887/27574)
Row 124105227 (NC_000020.11:58308211:AAAA: 33/27574)...

- Oct 13, 2022 (156)
79 TopMed NC_000020.11 - 58308212 Apr 26, 2021 (155)
80 ALFA NC_000020.11 - 58308212 Apr 26, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4355754501 NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAA:

NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA

(self)
5994583440 NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA

NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA

(self)
ss1809565471 NC_000020.10:56883267:AAAAAAAAAAAA: NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

(self)
ss4355754500 NC_000020.11:58308211:AAAAAAAAAAAA: NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

(self)
5994583440 NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

(self)
5994583440 NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
ss4355754499 NC_000020.11:58308211:AAAAAAAAAA: NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
5994583440 NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss4355754498 NC_000020.11:58308211:AAAAAAAAA: NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
5994583440 NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
368400516, ss4355754497, ss5093291571 NC_000020.11:58308211:AAAAAAAA: NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
5994583440 NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss4355754496 NC_000020.11:58308211:AAAAAAA: NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
5994583440 NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss4355754495 NC_000020.11:58308211:AAAAAA: NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
5994583440 NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss4355754494 NC_000020.11:58308211:AAAAA: NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
5994583440 NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss5230272926 NC_000020.10:56883267:AAAA: NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss4355754493, ss5790268123 NC_000020.11:58308211:AAAA: NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
5994583440 NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss4355754492 NC_000020.11:58308211:AAA: NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
5994583440 NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss4355754491 NC_000020.11:58308211:AA: NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
5994583440 NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss5230272929 NC_000020.10:56883267:A: NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss5501518093, ss5790268125 NC_000020.11:58308211:A: NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
5994583440 NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss3018405135, ss3835742934, ss5230272925 NC_000020.10:56883267::A NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4355754482, ss5309284827, ss5501518089, ss5790268121 NC_000020.11:58308211::A NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
5994583440 NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss947406604, ss3018405137, ss5230272927 NC_000020.10:56883267::AA NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4355754483, ss5309284828, ss5501518090, ss5790268122 NC_000020.11:58308211::AA NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
5994583440 NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3018405136, ss5230272928 NC_000020.10:56883267::AAA NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4355754484, ss5501518091, ss5790268124 NC_000020.11:58308211::AAA NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
5994583440 NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss95744113 NT_011362.10:27079381::AAA NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3018405138 NC_000020.10:56883267::AAAA NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4355754485, ss5501518092 NC_000020.11:58308211::AAAA NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
5994583440 NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4355754486, ss5501518094 NC_000020.11:58308211::AAAAA NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
5994583440 NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4355754487 NC_000020.11:58308211::AAAAAA NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
5994583440 NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4355754488 NC_000020.11:58308211::AAAAAAA NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4355754489 NC_000020.11:58308211::AAAAAAAA NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
64780, ss1577897658 NC_000020.10:56883267::AAAAAAAAAAA…

NC_000020.10:56883267::AAAAAAAAAAAAAAAA

NC_000020.11:58308211:AAAAAAAAAAAA…

NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(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 rs71181961

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