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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.

rs56144317

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr9:34434202-34434227 (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)22 / del(A)17 / del(A)15 / d…

del(A)22 / del(A)17 / del(A)15 / del(A)14 / del(A)13 / del(A)12 / 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)7 / dup(A)8 / ins(A)30 / ins(A)45 / ins(A)52

Variation Type
Indel Insertion and Deletion
Frequency
del(A)10=0.000004 (1/264690, TOPMED)
del(A)22=0.0000 (0/5920, ALFA)
del(A)17=0.0000 (0/5920, ALFA) (+ 19 more)
del(A)15=0.0000 (0/5920, ALFA)
del(A)14=0.0000 (0/5920, ALFA)
del(A)13=0.0000 (0/5920, ALFA)
del(A)12=0.0000 (0/5920, ALFA)
del(A)10=0.0000 (0/5920, ALFA)
del(A)9=0.0000 (0/5920, ALFA)
del(A)8=0.0000 (0/5920, ALFA)
del(A)7=0.0000 (0/5920, ALFA)
del(A)6=0.0000 (0/5920, ALFA)
del(A)5=0.0000 (0/5920, ALFA)
del(A)4=0.0000 (0/5920, ALFA)
delAAA=0.0000 (0/5920, ALFA)
delAA=0.0000 (0/5920, ALFA)
delA=0.0000 (0/5920, ALFA)
dupA=0.0000 (0/5920, ALFA)
dupAA=0.0000 (0/5920, ALFA)
dupAAA=0.0000 (0/5920, ALFA)
dup(A)4=0.0000 (0/5920, ALFA)
(A)26=0.00 (0/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
FAM219A : 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 5920 AAAAAAAAAAAAAAAAAAAAAAAAAA=1.0000 AAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
European Sub 4150 AAAAAAAAAAAAAAAAAAAAAAAAAA=1.0000 AAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Sub 1190 AAAAAAAAAAAAAAAAAAAAAAAAAA=1.0000 AAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Others Sub 24 AAAAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African American Sub 1166 AAAAAAAAAAAAAAAAAAAAAAAAAA=1.0000 AAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
Asian Sub 34 AAAAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
East Asian Sub 30 AAAAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 4 AAAAAAAAAAAAAAAAAAAAAAAAAA=1.0 AAAA=0.0, AAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Latin American 1 Sub 76 AAAAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 194 AAAAAAAAAAAAAAAAAAAAAAAAAA=1.000 AAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 36 AAAAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 240 AAAAAAAAAAAAAAAAAAAAAAAAAA=1.000 AAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=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)26=0.999996 del(A)10=0.000004
Allele Frequency Aggregator Total Global 5920 (A)26=1.0000 del(A)22=0.0000, del(A)17=0.0000, del(A)15=0.0000, del(A)14=0.0000, del(A)13=0.0000, del(A)12=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
Allele Frequency Aggregator European Sub 4150 (A)26=1.0000 del(A)22=0.0000, del(A)17=0.0000, del(A)15=0.0000, del(A)14=0.0000, del(A)13=0.0000, del(A)12=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
Allele Frequency Aggregator African Sub 1190 (A)26=1.0000 del(A)22=0.0000, del(A)17=0.0000, del(A)15=0.0000, del(A)14=0.0000, del(A)13=0.0000, del(A)12=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
Allele Frequency Aggregator Other Sub 240 (A)26=1.000 del(A)22=0.000, del(A)17=0.000, del(A)15=0.000, del(A)14=0.000, del(A)13=0.000, del(A)12=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
Allele Frequency Aggregator Latin American 2 Sub 194 (A)26=1.000 del(A)22=0.000, del(A)17=0.000, del(A)15=0.000, del(A)14=0.000, del(A)13=0.000, del(A)12=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
Allele Frequency Aggregator Latin American 1 Sub 76 (A)26=1.00 del(A)22=0.00, del(A)17=0.00, del(A)15=0.00, del(A)14=0.00, del(A)13=0.00, del(A)12=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
Allele Frequency Aggregator South Asian Sub 36 (A)26=1.00 del(A)22=0.00, del(A)17=0.00, del(A)15=0.00, del(A)14=0.00, del(A)13=0.00, del(A)12=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
Allele Frequency Aggregator Asian Sub 34 (A)26=1.00 del(A)22=0.00, del(A)17=0.00, del(A)15=0.00, del(A)14=0.00, del(A)13=0.00, del(A)12=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
The Danish reference pan genome Danish Study-wide 40 (A)26=0.00 del(A)17=1.00
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 9 NC_000009.12:g.34434206_34434227del
GRCh38.p14 chr 9 NC_000009.12:g.34434211_34434227del
GRCh38.p14 chr 9 NC_000009.12:g.34434213_34434227del
GRCh38.p14 chr 9 NC_000009.12:g.34434214_34434227del
GRCh38.p14 chr 9 NC_000009.12:g.34434215_34434227del
GRCh38.p14 chr 9 NC_000009.12:g.34434216_34434227del
GRCh38.p14 chr 9 NC_000009.12:g.34434218_34434227del
GRCh38.p14 chr 9 NC_000009.12:g.34434219_34434227del
GRCh38.p14 chr 9 NC_000009.12:g.34434220_34434227del
GRCh38.p14 chr 9 NC_000009.12:g.34434221_34434227del
GRCh38.p14 chr 9 NC_000009.12:g.34434222_34434227del
GRCh38.p14 chr 9 NC_000009.12:g.34434223_34434227del
GRCh38.p14 chr 9 NC_000009.12:g.34434224_34434227del
GRCh38.p14 chr 9 NC_000009.12:g.34434225_34434227del
GRCh38.p14 chr 9 NC_000009.12:g.34434226_34434227del
GRCh38.p14 chr 9 NC_000009.12:g.34434227del
GRCh38.p14 chr 9 NC_000009.12:g.34434227dup
GRCh38.p14 chr 9 NC_000009.12:g.34434226_34434227dup
GRCh38.p14 chr 9 NC_000009.12:g.34434225_34434227dup
GRCh38.p14 chr 9 NC_000009.12:g.34434224_34434227dup
GRCh38.p14 chr 9 NC_000009.12:g.34434223_34434227dup
GRCh38.p14 chr 9 NC_000009.12:g.34434221_34434227dup
GRCh38.p14 chr 9 NC_000009.12:g.34434220_34434227dup
GRCh38.p14 chr 9 NC_000009.12:g.34434227_34434228insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 9 NC_000009.12:g.34434227_34434228insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 9 NC_000009.12:g.34434227_34434228insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 9 NC_000009.11:g.34434204_34434225del
GRCh37.p13 chr 9 NC_000009.11:g.34434209_34434225del
GRCh37.p13 chr 9 NC_000009.11:g.34434211_34434225del
GRCh37.p13 chr 9 NC_000009.11:g.34434212_34434225del
GRCh37.p13 chr 9 NC_000009.11:g.34434213_34434225del
GRCh37.p13 chr 9 NC_000009.11:g.34434214_34434225del
GRCh37.p13 chr 9 NC_000009.11:g.34434216_34434225del
GRCh37.p13 chr 9 NC_000009.11:g.34434217_34434225del
GRCh37.p13 chr 9 NC_000009.11:g.34434218_34434225del
GRCh37.p13 chr 9 NC_000009.11:g.34434219_34434225del
GRCh37.p13 chr 9 NC_000009.11:g.34434220_34434225del
GRCh37.p13 chr 9 NC_000009.11:g.34434221_34434225del
GRCh37.p13 chr 9 NC_000009.11:g.34434222_34434225del
GRCh37.p13 chr 9 NC_000009.11:g.34434223_34434225del
GRCh37.p13 chr 9 NC_000009.11:g.34434224_34434225del
GRCh37.p13 chr 9 NC_000009.11:g.34434225del
GRCh37.p13 chr 9 NC_000009.11:g.34434225dup
GRCh37.p13 chr 9 NC_000009.11:g.34434224_34434225dup
GRCh37.p13 chr 9 NC_000009.11:g.34434223_34434225dup
GRCh37.p13 chr 9 NC_000009.11:g.34434222_34434225dup
GRCh37.p13 chr 9 NC_000009.11:g.34434221_34434225dup
GRCh37.p13 chr 9 NC_000009.11:g.34434219_34434225dup
GRCh37.p13 chr 9 NC_000009.11:g.34434218_34434225dup
GRCh37.p13 chr 9 NC_000009.11:g.34434225_34434226insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 9 NC_000009.11:g.34434225_34434226insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 9 NC_000009.11:g.34434225_34434226insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
FAM219A RefSeqGene NG_027971.1:g.29348_29369del
FAM219A RefSeqGene NG_027971.1:g.29353_29369del
FAM219A RefSeqGene NG_027971.1:g.29355_29369del
FAM219A RefSeqGene NG_027971.1:g.29356_29369del
FAM219A RefSeqGene NG_027971.1:g.29357_29369del
FAM219A RefSeqGene NG_027971.1:g.29358_29369del
FAM219A RefSeqGene NG_027971.1:g.29360_29369del
FAM219A RefSeqGene NG_027971.1:g.29361_29369del
FAM219A RefSeqGene NG_027971.1:g.29362_29369del
FAM219A RefSeqGene NG_027971.1:g.29363_29369del
FAM219A RefSeqGene NG_027971.1:g.29364_29369del
FAM219A RefSeqGene NG_027971.1:g.29365_29369del
FAM219A RefSeqGene NG_027971.1:g.29366_29369del
FAM219A RefSeqGene NG_027971.1:g.29367_29369del
FAM219A RefSeqGene NG_027971.1:g.29368_29369del
FAM219A RefSeqGene NG_027971.1:g.29369del
FAM219A RefSeqGene NG_027971.1:g.29369dup
FAM219A RefSeqGene NG_027971.1:g.29368_29369dup
FAM219A RefSeqGene NG_027971.1:g.29367_29369dup
FAM219A RefSeqGene NG_027971.1:g.29366_29369dup
FAM219A RefSeqGene NG_027971.1:g.29365_29369dup
FAM219A RefSeqGene NG_027971.1:g.29363_29369dup
FAM219A RefSeqGene NG_027971.1:g.29362_29369dup
FAM219A RefSeqGene NG_027971.1:g.29369_29370insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
FAM219A RefSeqGene NG_027971.1:g.29369_29370insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
FAM219A RefSeqGene NG_027971.1:g.29369_29370insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene: FAM219A, family with sequence similarity 219 member A (minus strand)
Molecule type Change Amino acid[Codon] SO Term
FAM219A transcript variant 1 NM_001184940.2:c.60+23981…

NM_001184940.2:c.60+23981_60+24002del

N/A Intron Variant
FAM219A transcript variant 2 NM_001184941.2:c.60+23981…

NM_001184941.2:c.60+23981_60+24002del

N/A Intron Variant
FAM219A transcript variant 3 NM_001184942.2:c.27+24014…

NM_001184942.2:c.27+24014_27+24035del

N/A Intron Variant
FAM219A transcript variant 5 NM_001184943.2:c.60+23981…

NM_001184943.2:c.60+23981_60+24002del

N/A Intron Variant
FAM219A transcript variant 7 NM_001184945.2:c.27+24014…

NM_001184945.2:c.27+24014_27+24035del

N/A Intron Variant
FAM219A transcript variant 4 NM_147202.2:c.60+23981_60…

NM_147202.2:c.60+23981_60+24002del

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
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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)26= del(A)22 del(A)17 del(A)15 del(A)14 del(A)13 del(A)12 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)7 dup(A)8 ins(A)30 ins(A)45 ins(A)52
GRCh38.p14 chr 9 NC_000009.12:g.34434202_34434227= NC_000009.12:g.34434206_34434227del NC_000009.12:g.34434211_34434227del NC_000009.12:g.34434213_34434227del NC_000009.12:g.34434214_34434227del NC_000009.12:g.34434215_34434227del NC_000009.12:g.34434216_34434227del NC_000009.12:g.34434218_34434227del NC_000009.12:g.34434219_34434227del NC_000009.12:g.34434220_34434227del NC_000009.12:g.34434221_34434227del NC_000009.12:g.34434222_34434227del NC_000009.12:g.34434223_34434227del NC_000009.12:g.34434224_34434227del NC_000009.12:g.34434225_34434227del NC_000009.12:g.34434226_34434227del NC_000009.12:g.34434227del NC_000009.12:g.34434227dup NC_000009.12:g.34434226_34434227dup NC_000009.12:g.34434225_34434227dup NC_000009.12:g.34434224_34434227dup NC_000009.12:g.34434223_34434227dup NC_000009.12:g.34434221_34434227dup NC_000009.12:g.34434220_34434227dup NC_000009.12:g.34434227_34434228insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000009.12:g.34434227_34434228insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000009.12:g.34434227_34434228insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 9 NC_000009.11:g.34434200_34434225= NC_000009.11:g.34434204_34434225del NC_000009.11:g.34434209_34434225del NC_000009.11:g.34434211_34434225del NC_000009.11:g.34434212_34434225del NC_000009.11:g.34434213_34434225del NC_000009.11:g.34434214_34434225del NC_000009.11:g.34434216_34434225del NC_000009.11:g.34434217_34434225del NC_000009.11:g.34434218_34434225del NC_000009.11:g.34434219_34434225del NC_000009.11:g.34434220_34434225del NC_000009.11:g.34434221_34434225del NC_000009.11:g.34434222_34434225del NC_000009.11:g.34434223_34434225del NC_000009.11:g.34434224_34434225del NC_000009.11:g.34434225del NC_000009.11:g.34434225dup NC_000009.11:g.34434224_34434225dup NC_000009.11:g.34434223_34434225dup NC_000009.11:g.34434222_34434225dup NC_000009.11:g.34434221_34434225dup NC_000009.11:g.34434219_34434225dup NC_000009.11:g.34434218_34434225dup NC_000009.11:g.34434225_34434226insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000009.11:g.34434225_34434226insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000009.11:g.34434225_34434226insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
FAM219A RefSeqGene NG_027971.1:g.29344_29369= NG_027971.1:g.29348_29369del NG_027971.1:g.29353_29369del NG_027971.1:g.29355_29369del NG_027971.1:g.29356_29369del NG_027971.1:g.29357_29369del NG_027971.1:g.29358_29369del NG_027971.1:g.29360_29369del NG_027971.1:g.29361_29369del NG_027971.1:g.29362_29369del NG_027971.1:g.29363_29369del NG_027971.1:g.29364_29369del NG_027971.1:g.29365_29369del NG_027971.1:g.29366_29369del NG_027971.1:g.29367_29369del NG_027971.1:g.29368_29369del NG_027971.1:g.29369del NG_027971.1:g.29369dup NG_027971.1:g.29368_29369dup NG_027971.1:g.29367_29369dup NG_027971.1:g.29366_29369dup NG_027971.1:g.29365_29369dup NG_027971.1:g.29363_29369dup NG_027971.1:g.29362_29369dup NG_027971.1:g.29369_29370insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NG_027971.1:g.29369_29370insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NG_027971.1:g.29369_29370insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
FAM219A transcript variant 1 NM_001184940.1:c.60+24002= NM_001184940.1:c.60+23981_60+24002del NM_001184940.1:c.60+23986_60+24002del NM_001184940.1:c.60+23988_60+24002del NM_001184940.1:c.60+23989_60+24002del NM_001184940.1:c.60+23990_60+24002del NM_001184940.1:c.60+23991_60+24002del NM_001184940.1:c.60+23993_60+24002del NM_001184940.1:c.60+23994_60+24002del NM_001184940.1:c.60+23995_60+24002del NM_001184940.1:c.60+23996_60+24002del NM_001184940.1:c.60+23997_60+24002del NM_001184940.1:c.60+23998_60+24002del NM_001184940.1:c.60+23999_60+24002del NM_001184940.1:c.60+24000_60+24002del NM_001184940.1:c.60+24001_60+24002del NM_001184940.1:c.60+24002del NM_001184940.1:c.60+24002dup NM_001184940.1:c.60+24001_60+24002dup NM_001184940.1:c.60+24000_60+24002dup NM_001184940.1:c.60+23999_60+24002dup NM_001184940.1:c.60+23998_60+24002dup NM_001184940.1:c.60+23996_60+24002dup NM_001184940.1:c.60+23995_60+24002dup NM_001184940.1:c.60+24002_60+24003insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001184940.1:c.60+24002_60+24003insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001184940.1:c.60+24002_60+24003insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
FAM219A transcript variant 1 NM_001184940.2:c.60+24002= NM_001184940.2:c.60+23981_60+24002del NM_001184940.2:c.60+23986_60+24002del NM_001184940.2:c.60+23988_60+24002del NM_001184940.2:c.60+23989_60+24002del NM_001184940.2:c.60+23990_60+24002del NM_001184940.2:c.60+23991_60+24002del NM_001184940.2:c.60+23993_60+24002del NM_001184940.2:c.60+23994_60+24002del NM_001184940.2:c.60+23995_60+24002del NM_001184940.2:c.60+23996_60+24002del NM_001184940.2:c.60+23997_60+24002del NM_001184940.2:c.60+23998_60+24002del NM_001184940.2:c.60+23999_60+24002del NM_001184940.2:c.60+24000_60+24002del NM_001184940.2:c.60+24001_60+24002del NM_001184940.2:c.60+24002del NM_001184940.2:c.60+24002dup NM_001184940.2:c.60+24001_60+24002dup NM_001184940.2:c.60+24000_60+24002dup NM_001184940.2:c.60+23999_60+24002dup NM_001184940.2:c.60+23998_60+24002dup NM_001184940.2:c.60+23996_60+24002dup NM_001184940.2:c.60+23995_60+24002dup NM_001184940.2:c.60+24002_60+24003insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001184940.2:c.60+24002_60+24003insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001184940.2:c.60+24002_60+24003insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
FAM219A transcript variant 2 NM_001184941.1:c.60+24002= NM_001184941.1:c.60+23981_60+24002del NM_001184941.1:c.60+23986_60+24002del NM_001184941.1:c.60+23988_60+24002del NM_001184941.1:c.60+23989_60+24002del NM_001184941.1:c.60+23990_60+24002del NM_001184941.1:c.60+23991_60+24002del NM_001184941.1:c.60+23993_60+24002del NM_001184941.1:c.60+23994_60+24002del NM_001184941.1:c.60+23995_60+24002del NM_001184941.1:c.60+23996_60+24002del NM_001184941.1:c.60+23997_60+24002del NM_001184941.1:c.60+23998_60+24002del NM_001184941.1:c.60+23999_60+24002del NM_001184941.1:c.60+24000_60+24002del NM_001184941.1:c.60+24001_60+24002del NM_001184941.1:c.60+24002del NM_001184941.1:c.60+24002dup NM_001184941.1:c.60+24001_60+24002dup NM_001184941.1:c.60+24000_60+24002dup NM_001184941.1:c.60+23999_60+24002dup NM_001184941.1:c.60+23998_60+24002dup NM_001184941.1:c.60+23996_60+24002dup NM_001184941.1:c.60+23995_60+24002dup NM_001184941.1:c.60+24002_60+24003insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001184941.1:c.60+24002_60+24003insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001184941.1:c.60+24002_60+24003insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
FAM219A transcript variant 2 NM_001184941.2:c.60+24002= NM_001184941.2:c.60+23981_60+24002del NM_001184941.2:c.60+23986_60+24002del NM_001184941.2:c.60+23988_60+24002del NM_001184941.2:c.60+23989_60+24002del NM_001184941.2:c.60+23990_60+24002del NM_001184941.2:c.60+23991_60+24002del NM_001184941.2:c.60+23993_60+24002del NM_001184941.2:c.60+23994_60+24002del NM_001184941.2:c.60+23995_60+24002del NM_001184941.2:c.60+23996_60+24002del NM_001184941.2:c.60+23997_60+24002del NM_001184941.2:c.60+23998_60+24002del NM_001184941.2:c.60+23999_60+24002del NM_001184941.2:c.60+24000_60+24002del NM_001184941.2:c.60+24001_60+24002del NM_001184941.2:c.60+24002del NM_001184941.2:c.60+24002dup NM_001184941.2:c.60+24001_60+24002dup NM_001184941.2:c.60+24000_60+24002dup NM_001184941.2:c.60+23999_60+24002dup NM_001184941.2:c.60+23998_60+24002dup NM_001184941.2:c.60+23996_60+24002dup NM_001184941.2:c.60+23995_60+24002dup NM_001184941.2:c.60+24002_60+24003insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001184941.2:c.60+24002_60+24003insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001184941.2:c.60+24002_60+24003insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
FAM219A transcript variant 3 NM_001184942.1:c.27+24035= NM_001184942.1:c.27+24014_27+24035del NM_001184942.1:c.27+24019_27+24035del NM_001184942.1:c.27+24021_27+24035del NM_001184942.1:c.27+24022_27+24035del NM_001184942.1:c.27+24023_27+24035del NM_001184942.1:c.27+24024_27+24035del NM_001184942.1:c.27+24026_27+24035del NM_001184942.1:c.27+24027_27+24035del NM_001184942.1:c.27+24028_27+24035del NM_001184942.1:c.27+24029_27+24035del NM_001184942.1:c.27+24030_27+24035del NM_001184942.1:c.27+24031_27+24035del NM_001184942.1:c.27+24032_27+24035del NM_001184942.1:c.27+24033_27+24035del NM_001184942.1:c.27+24034_27+24035del NM_001184942.1:c.27+24035del NM_001184942.1:c.27+24035dup NM_001184942.1:c.27+24034_27+24035dup NM_001184942.1:c.27+24033_27+24035dup NM_001184942.1:c.27+24032_27+24035dup NM_001184942.1:c.27+24031_27+24035dup NM_001184942.1:c.27+24029_27+24035dup NM_001184942.1:c.27+24028_27+24035dup NM_001184942.1:c.27+24035_27+24036insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001184942.1:c.27+24035_27+24036insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001184942.1:c.27+24035_27+24036insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
FAM219A transcript variant 3 NM_001184942.2:c.27+24035= NM_001184942.2:c.27+24014_27+24035del NM_001184942.2:c.27+24019_27+24035del NM_001184942.2:c.27+24021_27+24035del NM_001184942.2:c.27+24022_27+24035del NM_001184942.2:c.27+24023_27+24035del NM_001184942.2:c.27+24024_27+24035del NM_001184942.2:c.27+24026_27+24035del NM_001184942.2:c.27+24027_27+24035del NM_001184942.2:c.27+24028_27+24035del NM_001184942.2:c.27+24029_27+24035del NM_001184942.2:c.27+24030_27+24035del NM_001184942.2:c.27+24031_27+24035del NM_001184942.2:c.27+24032_27+24035del NM_001184942.2:c.27+24033_27+24035del NM_001184942.2:c.27+24034_27+24035del NM_001184942.2:c.27+24035del NM_001184942.2:c.27+24035dup NM_001184942.2:c.27+24034_27+24035dup NM_001184942.2:c.27+24033_27+24035dup NM_001184942.2:c.27+24032_27+24035dup NM_001184942.2:c.27+24031_27+24035dup NM_001184942.2:c.27+24029_27+24035dup NM_001184942.2:c.27+24028_27+24035dup NM_001184942.2:c.27+24035_27+24036insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001184942.2:c.27+24035_27+24036insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001184942.2:c.27+24035_27+24036insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
FAM219A transcript variant 5 NM_001184943.1:c.60+24002= NM_001184943.1:c.60+23981_60+24002del NM_001184943.1:c.60+23986_60+24002del NM_001184943.1:c.60+23988_60+24002del NM_001184943.1:c.60+23989_60+24002del NM_001184943.1:c.60+23990_60+24002del NM_001184943.1:c.60+23991_60+24002del NM_001184943.1:c.60+23993_60+24002del NM_001184943.1:c.60+23994_60+24002del NM_001184943.1:c.60+23995_60+24002del NM_001184943.1:c.60+23996_60+24002del NM_001184943.1:c.60+23997_60+24002del NM_001184943.1:c.60+23998_60+24002del NM_001184943.1:c.60+23999_60+24002del NM_001184943.1:c.60+24000_60+24002del NM_001184943.1:c.60+24001_60+24002del NM_001184943.1:c.60+24002del NM_001184943.1:c.60+24002dup NM_001184943.1:c.60+24001_60+24002dup NM_001184943.1:c.60+24000_60+24002dup NM_001184943.1:c.60+23999_60+24002dup NM_001184943.1:c.60+23998_60+24002dup NM_001184943.1:c.60+23996_60+24002dup NM_001184943.1:c.60+23995_60+24002dup NM_001184943.1:c.60+24002_60+24003insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001184943.1:c.60+24002_60+24003insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001184943.1:c.60+24002_60+24003insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
FAM219A transcript variant 5 NM_001184943.2:c.60+24002= NM_001184943.2:c.60+23981_60+24002del NM_001184943.2:c.60+23986_60+24002del NM_001184943.2:c.60+23988_60+24002del NM_001184943.2:c.60+23989_60+24002del NM_001184943.2:c.60+23990_60+24002del NM_001184943.2:c.60+23991_60+24002del NM_001184943.2:c.60+23993_60+24002del NM_001184943.2:c.60+23994_60+24002del NM_001184943.2:c.60+23995_60+24002del NM_001184943.2:c.60+23996_60+24002del NM_001184943.2:c.60+23997_60+24002del NM_001184943.2:c.60+23998_60+24002del NM_001184943.2:c.60+23999_60+24002del NM_001184943.2:c.60+24000_60+24002del NM_001184943.2:c.60+24001_60+24002del NM_001184943.2:c.60+24002del NM_001184943.2:c.60+24002dup NM_001184943.2:c.60+24001_60+24002dup NM_001184943.2:c.60+24000_60+24002dup NM_001184943.2:c.60+23999_60+24002dup NM_001184943.2:c.60+23998_60+24002dup NM_001184943.2:c.60+23996_60+24002dup NM_001184943.2:c.60+23995_60+24002dup NM_001184943.2:c.60+24002_60+24003insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001184943.2:c.60+24002_60+24003insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001184943.2:c.60+24002_60+24003insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
FAM219A transcript variant 7 NM_001184945.1:c.27+24035= NM_001184945.1:c.27+24014_27+24035del NM_001184945.1:c.27+24019_27+24035del NM_001184945.1:c.27+24021_27+24035del NM_001184945.1:c.27+24022_27+24035del NM_001184945.1:c.27+24023_27+24035del NM_001184945.1:c.27+24024_27+24035del NM_001184945.1:c.27+24026_27+24035del NM_001184945.1:c.27+24027_27+24035del NM_001184945.1:c.27+24028_27+24035del NM_001184945.1:c.27+24029_27+24035del NM_001184945.1:c.27+24030_27+24035del NM_001184945.1:c.27+24031_27+24035del NM_001184945.1:c.27+24032_27+24035del NM_001184945.1:c.27+24033_27+24035del NM_001184945.1:c.27+24034_27+24035del NM_001184945.1:c.27+24035del NM_001184945.1:c.27+24035dup NM_001184945.1:c.27+24034_27+24035dup NM_001184945.1:c.27+24033_27+24035dup NM_001184945.1:c.27+24032_27+24035dup NM_001184945.1:c.27+24031_27+24035dup NM_001184945.1:c.27+24029_27+24035dup NM_001184945.1:c.27+24028_27+24035dup NM_001184945.1:c.27+24035_27+24036insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001184945.1:c.27+24035_27+24036insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001184945.1:c.27+24035_27+24036insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
FAM219A transcript variant 7 NM_001184945.2:c.27+24035= NM_001184945.2:c.27+24014_27+24035del NM_001184945.2:c.27+24019_27+24035del NM_001184945.2:c.27+24021_27+24035del NM_001184945.2:c.27+24022_27+24035del NM_001184945.2:c.27+24023_27+24035del NM_001184945.2:c.27+24024_27+24035del NM_001184945.2:c.27+24026_27+24035del NM_001184945.2:c.27+24027_27+24035del NM_001184945.2:c.27+24028_27+24035del NM_001184945.2:c.27+24029_27+24035del NM_001184945.2:c.27+24030_27+24035del NM_001184945.2:c.27+24031_27+24035del NM_001184945.2:c.27+24032_27+24035del NM_001184945.2:c.27+24033_27+24035del NM_001184945.2:c.27+24034_27+24035del NM_001184945.2:c.27+24035del NM_001184945.2:c.27+24035dup NM_001184945.2:c.27+24034_27+24035dup NM_001184945.2:c.27+24033_27+24035dup NM_001184945.2:c.27+24032_27+24035dup NM_001184945.2:c.27+24031_27+24035dup NM_001184945.2:c.27+24029_27+24035dup NM_001184945.2:c.27+24028_27+24035dup NM_001184945.2:c.27+24035_27+24036insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001184945.2:c.27+24035_27+24036insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001184945.2:c.27+24035_27+24036insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
FAM219A transcript variant 4 NM_147202.1:c.60+24002= NM_147202.1:c.60+23981_60+24002del NM_147202.1:c.60+23986_60+24002del NM_147202.1:c.60+23988_60+24002del NM_147202.1:c.60+23989_60+24002del NM_147202.1:c.60+23990_60+24002del NM_147202.1:c.60+23991_60+24002del NM_147202.1:c.60+23993_60+24002del NM_147202.1:c.60+23994_60+24002del NM_147202.1:c.60+23995_60+24002del NM_147202.1:c.60+23996_60+24002del NM_147202.1:c.60+23997_60+24002del NM_147202.1:c.60+23998_60+24002del NM_147202.1:c.60+23999_60+24002del NM_147202.1:c.60+24000_60+24002del NM_147202.1:c.60+24001_60+24002del NM_147202.1:c.60+24002del NM_147202.1:c.60+24002dup NM_147202.1:c.60+24001_60+24002dup NM_147202.1:c.60+24000_60+24002dup NM_147202.1:c.60+23999_60+24002dup NM_147202.1:c.60+23998_60+24002dup NM_147202.1:c.60+23996_60+24002dup NM_147202.1:c.60+23995_60+24002dup NM_147202.1:c.60+24002_60+24003insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_147202.1:c.60+24002_60+24003insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_147202.1:c.60+24002_60+24003insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
FAM219A transcript variant 4 NM_147202.2:c.60+24002= NM_147202.2:c.60+23981_60+24002del NM_147202.2:c.60+23986_60+24002del NM_147202.2:c.60+23988_60+24002del NM_147202.2:c.60+23989_60+24002del NM_147202.2:c.60+23990_60+24002del NM_147202.2:c.60+23991_60+24002del NM_147202.2:c.60+23993_60+24002del NM_147202.2:c.60+23994_60+24002del NM_147202.2:c.60+23995_60+24002del NM_147202.2:c.60+23996_60+24002del NM_147202.2:c.60+23997_60+24002del NM_147202.2:c.60+23998_60+24002del NM_147202.2:c.60+23999_60+24002del NM_147202.2:c.60+24000_60+24002del NM_147202.2:c.60+24001_60+24002del NM_147202.2:c.60+24002del NM_147202.2:c.60+24002dup NM_147202.2:c.60+24001_60+24002dup NM_147202.2:c.60+24000_60+24002dup NM_147202.2:c.60+23999_60+24002dup NM_147202.2:c.60+23998_60+24002dup NM_147202.2:c.60+23996_60+24002dup NM_147202.2:c.60+23995_60+24002dup NM_147202.2:c.60+24002_60+24003insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_147202.2:c.60+24002_60+24003insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_147202.2:c.60+24002_60+24003insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
FAM219A transcript variant X1 XM_005251400.1:c.27+24035= XM_005251400.1:c.27+24014_27+24035del XM_005251400.1:c.27+24019_27+24035del XM_005251400.1:c.27+24021_27+24035del XM_005251400.1:c.27+24022_27+24035del XM_005251400.1:c.27+24023_27+24035del XM_005251400.1:c.27+24024_27+24035del XM_005251400.1:c.27+24026_27+24035del XM_005251400.1:c.27+24027_27+24035del XM_005251400.1:c.27+24028_27+24035del XM_005251400.1:c.27+24029_27+24035del XM_005251400.1:c.27+24030_27+24035del XM_005251400.1:c.27+24031_27+24035del XM_005251400.1:c.27+24032_27+24035del XM_005251400.1:c.27+24033_27+24035del XM_005251400.1:c.27+24034_27+24035del XM_005251400.1:c.27+24035del XM_005251400.1:c.27+24035dup XM_005251400.1:c.27+24034_27+24035dup XM_005251400.1:c.27+24033_27+24035dup XM_005251400.1:c.27+24032_27+24035dup XM_005251400.1:c.27+24031_27+24035dup XM_005251400.1:c.27+24029_27+24035dup XM_005251400.1:c.27+24028_27+24035dup XM_005251400.1:c.27+24035_27+24036insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005251400.1:c.27+24035_27+24036insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005251400.1:c.27+24035_27+24036insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
FAM219A transcript variant X2 XM_005251401.1:c.27+24035= XM_005251401.1:c.27+24014_27+24035del XM_005251401.1:c.27+24019_27+24035del XM_005251401.1:c.27+24021_27+24035del XM_005251401.1:c.27+24022_27+24035del XM_005251401.1:c.27+24023_27+24035del XM_005251401.1:c.27+24024_27+24035del XM_005251401.1:c.27+24026_27+24035del XM_005251401.1:c.27+24027_27+24035del XM_005251401.1:c.27+24028_27+24035del XM_005251401.1:c.27+24029_27+24035del XM_005251401.1:c.27+24030_27+24035del XM_005251401.1:c.27+24031_27+24035del XM_005251401.1:c.27+24032_27+24035del XM_005251401.1:c.27+24033_27+24035del XM_005251401.1:c.27+24034_27+24035del XM_005251401.1:c.27+24035del XM_005251401.1:c.27+24035dup XM_005251401.1:c.27+24034_27+24035dup XM_005251401.1:c.27+24033_27+24035dup XM_005251401.1:c.27+24032_27+24035dup XM_005251401.1:c.27+24031_27+24035dup XM_005251401.1:c.27+24029_27+24035dup XM_005251401.1:c.27+24028_27+24035dup XM_005251401.1:c.27+24035_27+24036insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005251401.1:c.27+24035_27+24036insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005251401.1:c.27+24035_27+24036insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
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#.

49 SubSNP, 35 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGSV ss77895857 Dec 07, 2007 (129)
2 EVA_GENOME_DK ss1578886146 Apr 01, 2015 (144)
3 SWEGEN ss3004698259 Nov 08, 2017 (151)
4 EVA_DECODE ss3723853888 Jul 13, 2019 (153)
5 EVA_DECODE ss3723853889 Jul 13, 2019 (153)
6 EVA_DECODE ss3723853890 Jul 13, 2019 (153)
7 EVA_DECODE ss3723853891 Jul 13, 2019 (153)
8 GNOMAD ss4200914285 Apr 26, 2021 (155)
9 GNOMAD ss4200914286 Apr 26, 2021 (155)
10 GNOMAD ss4200914287 Apr 26, 2021 (155)
11 GNOMAD ss4200914288 Apr 26, 2021 (155)
12 GNOMAD ss4200914289 Apr 26, 2021 (155)
13 GNOMAD ss4200914290 Apr 26, 2021 (155)
14 GNOMAD ss4200914291 Apr 26, 2021 (155)
15 GNOMAD ss4200914292 Apr 26, 2021 (155)
16 GNOMAD ss4200914293 Apr 26, 2021 (155)
17 GNOMAD ss4200914294 Apr 26, 2021 (155)
18 GNOMAD ss4200914295 Apr 26, 2021 (155)
19 GNOMAD ss4200914296 Apr 26, 2021 (155)
20 GNOMAD ss4200914297 Apr 26, 2021 (155)
21 GNOMAD ss4200914298 Apr 26, 2021 (155)
22 GNOMAD ss4200914299 Apr 26, 2021 (155)
23 GNOMAD ss4200914300 Apr 26, 2021 (155)
24 GNOMAD ss4200914301 Apr 26, 2021 (155)
25 GNOMAD ss4200914302 Apr 26, 2021 (155)
26 GNOMAD ss4200914303 Apr 26, 2021 (155)
27 GNOMAD ss4200914304 Apr 26, 2021 (155)
28 GNOMAD ss4200914305 Apr 26, 2021 (155)
29 TOPMED ss4819571290 Apr 26, 2021 (155)
30 TOMMO_GENOMICS ss5192954032 Apr 26, 2021 (155)
31 TOMMO_GENOMICS ss5192954033 Apr 26, 2021 (155)
32 TOMMO_GENOMICS ss5192954034 Apr 26, 2021 (155)
33 TOMMO_GENOMICS ss5192954035 Apr 26, 2021 (155)
34 TOMMO_GENOMICS ss5192954036 Apr 26, 2021 (155)
35 1000G_HIGH_COVERAGE ss5280476223 Oct 16, 2022 (156)
36 1000G_HIGH_COVERAGE ss5280476224 Oct 16, 2022 (156)
37 1000G_HIGH_COVERAGE ss5280476225 Oct 16, 2022 (156)
38 1000G_HIGH_COVERAGE ss5280476226 Oct 16, 2022 (156)
39 HUGCELL_USP ss5476682997 Oct 16, 2022 (156)
40 HUGCELL_USP ss5476682998 Oct 16, 2022 (156)
41 HUGCELL_USP ss5476682999 Oct 16, 2022 (156)
42 HUGCELL_USP ss5476683000 Oct 16, 2022 (156)
43 HUGCELL_USP ss5476683001 Oct 16, 2022 (156)
44 HUGCELL_USP ss5476683002 Oct 16, 2022 (156)
45 SANFORD_IMAGENETICS ss5647304813 Oct 16, 2022 (156)
46 TOMMO_GENOMICS ss5736249512 Oct 16, 2022 (156)
47 TOMMO_GENOMICS ss5736249513 Oct 16, 2022 (156)
48 TOMMO_GENOMICS ss5736249514 Oct 16, 2022 (156)
49 TOMMO_GENOMICS ss5736249515 Oct 16, 2022 (156)
50 The Danish reference pan genome NC_000009.11 - 34434200 Apr 26, 2020 (154)
51 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 323792278 (NC_000009.12:34434201::A 1217/42050)
Row 323792279 (NC_000009.12:34434201::AA 327/42188)
Row 323792280 (NC_000009.12:34434201::AAA 46/42224)...

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

Submission ignored due to conflicting rows:
Row 323792278 (NC_000009.12:34434201::A 1217/42050)
Row 323792279 (NC_000009.12:34434201::AA 327/42188)
Row 323792280 (NC_000009.12:34434201::AAA 46/42224)...

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

Submission ignored due to conflicting rows:
Row 323792278 (NC_000009.12:34434201::A 1217/42050)
Row 323792279 (NC_000009.12:34434201::AA 327/42188)
Row 323792280 (NC_000009.12:34434201::AAA 46/42224)...

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

Submission ignored due to conflicting rows:
Row 323792278 (NC_000009.12:34434201::A 1217/42050)
Row 323792279 (NC_000009.12:34434201::AA 327/42188)
Row 323792280 (NC_000009.12:34434201::AAA 46/42224)...

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

Submission ignored due to conflicting rows:
Row 323792278 (NC_000009.12:34434201::A 1217/42050)
Row 323792279 (NC_000009.12:34434201::AA 327/42188)
Row 323792280 (NC_000009.12:34434201::AAA 46/42224)...

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

Submission ignored due to conflicting rows:
Row 323792278 (NC_000009.12:34434201::A 1217/42050)
Row 323792279 (NC_000009.12:34434201::AA 327/42188)
Row 323792280 (NC_000009.12:34434201::AAA 46/42224)...

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

Submission ignored due to conflicting rows:
Row 323792278 (NC_000009.12:34434201::A 1217/42050)
Row 323792279 (NC_000009.12:34434201::AA 327/42188)
Row 323792280 (NC_000009.12:34434201::AAA 46/42224)...

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

Submission ignored due to conflicting rows:
Row 323792278 (NC_000009.12:34434201::A 1217/42050)
Row 323792279 (NC_000009.12:34434201::AA 327/42188)
Row 323792280 (NC_000009.12:34434201::AAA 46/42224)...

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

Submission ignored due to conflicting rows:
Row 323792278 (NC_000009.12:34434201::A 1217/42050)
Row 323792279 (NC_000009.12:34434201::AA 327/42188)
Row 323792280 (NC_000009.12:34434201::AAA 46/42224)...

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

Submission ignored due to conflicting rows:
Row 323792278 (NC_000009.12:34434201::A 1217/42050)
Row 323792279 (NC_000009.12:34434201::AA 327/42188)
Row 323792280 (NC_000009.12:34434201::AAA 46/42224)...

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

Submission ignored due to conflicting rows:
Row 323792278 (NC_000009.12:34434201::A 1217/42050)
Row 323792279 (NC_000009.12:34434201::AA 327/42188)
Row 323792280 (NC_000009.12:34434201::AAA 46/42224)...

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

Submission ignored due to conflicting rows:
Row 323792278 (NC_000009.12:34434201::A 1217/42050)
Row 323792279 (NC_000009.12:34434201::AA 327/42188)
Row 323792280 (NC_000009.12:34434201::AAA 46/42224)...

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

Submission ignored due to conflicting rows:
Row 323792278 (NC_000009.12:34434201::A 1217/42050)
Row 323792279 (NC_000009.12:34434201::AA 327/42188)
Row 323792280 (NC_000009.12:34434201::AAA 46/42224)...

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

Submission ignored due to conflicting rows:
Row 323792278 (NC_000009.12:34434201::A 1217/42050)
Row 323792279 (NC_000009.12:34434201::AA 327/42188)
Row 323792280 (NC_000009.12:34434201::AAA 46/42224)...

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

Submission ignored due to conflicting rows:
Row 323792278 (NC_000009.12:34434201::A 1217/42050)
Row 323792279 (NC_000009.12:34434201::AA 327/42188)
Row 323792280 (NC_000009.12:34434201::AAA 46/42224)...

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

Submission ignored due to conflicting rows:
Row 323792278 (NC_000009.12:34434201::A 1217/42050)
Row 323792279 (NC_000009.12:34434201::AA 327/42188)
Row 323792280 (NC_000009.12:34434201::AAA 46/42224)...

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

Submission ignored due to conflicting rows:
Row 323792278 (NC_000009.12:34434201::A 1217/42050)
Row 323792279 (NC_000009.12:34434201::AA 327/42188)
Row 323792280 (NC_000009.12:34434201::AAA 46/42224)...

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

Submission ignored due to conflicting rows:
Row 323792278 (NC_000009.12:34434201::A 1217/42050)
Row 323792279 (NC_000009.12:34434201::AA 327/42188)
Row 323792280 (NC_000009.12:34434201::AAA 46/42224)...

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

Submission ignored due to conflicting rows:
Row 323792278 (NC_000009.12:34434201::A 1217/42050)
Row 323792279 (NC_000009.12:34434201::AA 327/42188)
Row 323792280 (NC_000009.12:34434201::AAA 46/42224)...

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

Submission ignored due to conflicting rows:
Row 323792278 (NC_000009.12:34434201::A 1217/42050)
Row 323792279 (NC_000009.12:34434201::AA 327/42188)
Row 323792280 (NC_000009.12:34434201::AAA 46/42224)...

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

Submission ignored due to conflicting rows:
Row 323792278 (NC_000009.12:34434201::A 1217/42050)
Row 323792279 (NC_000009.12:34434201::AA 327/42188)
Row 323792280 (NC_000009.12:34434201::AAA 46/42224)...

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

Submission ignored due to conflicting rows:
Row 323792278 (NC_000009.12:34434201::A 1217/42050)
Row 323792279 (NC_000009.12:34434201::AA 327/42188)
Row 323792280 (NC_000009.12:34434201::AAA 46/42224)...

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

Submission ignored due to conflicting rows:
Row 323792278 (NC_000009.12:34434201::A 1217/42050)
Row 323792279 (NC_000009.12:34434201::AA 327/42188)
Row 323792280 (NC_000009.12:34434201::AAA 46/42224)...

- Apr 26, 2021 (155)
74 8.3KJPN

Submission ignored due to conflicting rows:
Row 50923339 (NC_000009.11:34434199:A: 2041/15744)
Row 50923340 (NC_000009.11:34434199:AA: 997/15744)
Row 50923341 (NC_000009.11:34434199:AAAAAAAAAAAAAA: 5/15744)...

- Apr 26, 2021 (155)
75 8.3KJPN

Submission ignored due to conflicting rows:
Row 50923339 (NC_000009.11:34434199:A: 2041/15744)
Row 50923340 (NC_000009.11:34434199:AA: 997/15744)
Row 50923341 (NC_000009.11:34434199:AAAAAAAAAAAAAA: 5/15744)...

- Apr 26, 2021 (155)
76 8.3KJPN

Submission ignored due to conflicting rows:
Row 50923339 (NC_000009.11:34434199:A: 2041/15744)
Row 50923340 (NC_000009.11:34434199:AA: 997/15744)
Row 50923341 (NC_000009.11:34434199:AAAAAAAAAAAAAA: 5/15744)...

- Apr 26, 2021 (155)
77 8.3KJPN

Submission ignored due to conflicting rows:
Row 50923339 (NC_000009.11:34434199:A: 2041/15744)
Row 50923340 (NC_000009.11:34434199:AA: 997/15744)
Row 50923341 (NC_000009.11:34434199:AAAAAAAAAAAAAA: 5/15744)...

- Apr 26, 2021 (155)
78 8.3KJPN

Submission ignored due to conflicting rows:
Row 50923339 (NC_000009.11:34434199:A: 2041/15744)
Row 50923340 (NC_000009.11:34434199:AA: 997/15744)
Row 50923341 (NC_000009.11:34434199:AAAAAAAAAAAAAA: 5/15744)...

- Apr 26, 2021 (155)
79 14KJPN

Submission ignored due to conflicting rows:
Row 70086616 (NC_000009.12:34434201:AA: 2360/25710)
Row 70086617 (NC_000009.12:34434201:A: 4896/25710)
Row 70086618 (NC_000009.12:34434201:AAAAAAAAAAAAAA: 6/25710)...

- Oct 16, 2022 (156)
80 14KJPN

Submission ignored due to conflicting rows:
Row 70086616 (NC_000009.12:34434201:AA: 2360/25710)
Row 70086617 (NC_000009.12:34434201:A: 4896/25710)
Row 70086618 (NC_000009.12:34434201:AAAAAAAAAAAAAA: 6/25710)...

- Oct 16, 2022 (156)
81 14KJPN

Submission ignored due to conflicting rows:
Row 70086616 (NC_000009.12:34434201:AA: 2360/25710)
Row 70086617 (NC_000009.12:34434201:A: 4896/25710)
Row 70086618 (NC_000009.12:34434201:AAAAAAAAAAAAAA: 6/25710)...

- Oct 16, 2022 (156)
82 14KJPN

Submission ignored due to conflicting rows:
Row 70086616 (NC_000009.12:34434201:AA: 2360/25710)
Row 70086617 (NC_000009.12:34434201:A: 4896/25710)
Row 70086618 (NC_000009.12:34434201:AAAAAAAAAAAAAA: 6/25710)...

- Oct 16, 2022 (156)
83 TopMed NC_000009.12 - 34434202 Apr 26, 2021 (155)
84 ALFA NC_000009.12 - 34434202 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
ss4200914305 NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAA:

NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAA

(self)
12975002576 NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAA

NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAA

(self)
111714, ss1578886146 NC_000009.11:34434199:AAAAAAAAAAAA…

NC_000009.11:34434199:AAAAAAAAAAAAAAAAA:

NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA

(self)
ss4200914304 NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAA:

NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA

(self)
12975002576 NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA

NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA

(self)
ss4200914303, ss5476683002 NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAA:

NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
12975002576 NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
ss5192954034 NC_000009.11:34434199:AAAAAAAAAAAA…

NC_000009.11:34434199:AAAAAAAAAAAAAA:

NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss4200914302, ss5736249514 NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAA:

NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
12975002576 NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss3004698259, ss5192954036 NC_000009.11:34434199:AAAAAAAAAAAA…

NC_000009.11:34434199:AAAAAAAAAAAAA:

NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss3723853891, ss4200914301, ss5280476226, ss5476683001 NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAA:

NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
12975002576 NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss4200914300 NC_000009.12:34434201:AAAAAAAAAAAA: NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
12975002576 NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
656948851, ss4819571290 NC_000009.12:34434201:AAAAAAAAAA: NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
12975002576 NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
12975002576 NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss4200914299 NC_000009.12:34434201:AAAAAAAA: NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
12975002576 NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss4200914298 NC_000009.12:34434201:AAAAAAA: NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
12975002576 NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss4200914297 NC_000009.12:34434201:AAAAAA: NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
12975002576 NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
12975002576 NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss4200914296 NC_000009.12:34434201:AAAA: NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
12975002576 NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss4200914295, ss5280476225, ss5476683000 NC_000009.12:34434201:AAA: NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
12975002576 NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3723853890 NC_000009.12:34434211:AAA: NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss5192954033 NC_000009.11:34434199:AA: NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4200914294, ss5280476223, ss5476682998, ss5736249512 NC_000009.12:34434201:AA: NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
12975002576 NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3723853889 NC_000009.12:34434212:AA: NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss77895857 NC_000009.9:34424224:A: NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss5192954032, ss5647304813 NC_000009.11:34434199:A: NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss5476682997, ss5736249513 NC_000009.12:34434201:A: NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
12975002576 NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3723853888 NC_000009.12:34434213:A: NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss5192954035 NC_000009.11:34434199::A NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4200914285, ss5280476224, ss5476682999, ss5736249515 NC_000009.12:34434201::A NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
12975002576 NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4200914286 NC_000009.12:34434201::AA NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
12975002576 NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4200914287 NC_000009.12:34434201::AAA NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
12975002576 NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4200914288 NC_000009.12:34434201::AAAA NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
12975002576 NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4200914289 NC_000009.12:34434201::AAAAA NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4200914290 NC_000009.12:34434201::AAAAAAA NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4200914291 NC_000009.12:34434201::AAAAAAAA NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4200914292 NC_000009.12:34434201::AAAAAAAAAAA…

NC_000009.12:34434201::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4200914293 NC_000009.12:34434201::AAAAAAAAAAA…

NC_000009.12:34434201::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
NC_000009.12:34434201::AAAAAAAAAAA…

NC_000009.12:34434201::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss3587147594 NC_000009.12:34434201:AAAAAAAAA: NC_000009.12:34434201:AAAAAAAAAAAA…

NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

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 rs56144317

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