Name: rs1222794052
Published: September 21, 2022
License: Open Access

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.

rs1222794052

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:73219192-73219213 (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)₁₄ / del(A)₁₁ / del(A)₉ / de…
del(A)₁₄ / del(A)₁₁ / del(A)₉ / 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)₂₂ / ins(A)₃₆
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₁₄=0.0000 (0/7974, ALFA)
del(A)₁₁=0.0000 (0/7974, ALFA)
del(A)₉=0.0000 (0/7974, ALFA) (+ 9 more)
del(A)₇=0.0000 (0/7974, ALFA)
del(A)₆=0.0000 (0/7974, ALFA)
del(A)₄=0.0000 (0/7974, ALFA)
delAAA=0.0000 (0/7974, ALFA)
delAA=0.0000 (0/7974, ALFA)
delA=0.0000 (0/7974, ALFA)
dupA=0.0000 (0/7974, ALFA)
dupAA=0.0000 (0/7974, ALFA)
dupAAA=0.0000 (0/7974, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: FAM104A : 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	HWEP
Total	Global	7974	AAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
European	Sub	5090	AAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African	Sub	2006	AAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African Others	Sub	88	AAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
African American	Sub	1918	AAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
Asian	Sub	62	AAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
East Asian	Sub	46	AAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other Asian	Sub	16	AAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 1	Sub	88	AAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 2	Sub	384	AAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
South Asian	Sub	44	AAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other	Sub	300	AAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	7974	(A)₂₂=1.0000	del(A)₁₄=0.0000, del(A)₁₁=0.0000, del(A)₉=0.0000, del(A)₇=0.0000, del(A)₆=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
Allele Frequency Aggregator	European	Sub	5090	(A)₂₂=1.0000	del(A)₁₄=0.0000, del(A)₁₁=0.0000, del(A)₉=0.0000, del(A)₇=0.0000, del(A)₆=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
Allele Frequency Aggregator	African	Sub	2006	(A)₂₂=1.0000	del(A)₁₄=0.0000, del(A)₁₁=0.0000, del(A)₉=0.0000, del(A)₇=0.0000, del(A)₆=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
Allele Frequency Aggregator	Latin American 2	Sub	384	(A)₂₂=1.000	del(A)₁₄=0.000, del(A)₁₁=0.000, del(A)₉=0.000, del(A)₇=0.000, del(A)₆=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
Allele Frequency Aggregator	Other	Sub	300	(A)₂₂=1.000	del(A)₁₄=0.000, del(A)₁₁=0.000, del(A)₉=0.000, del(A)₇=0.000, del(A)₆=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
Allele Frequency Aggregator	Latin American 1	Sub	88	(A)₂₂=1.00	del(A)₁₄=0.00, del(A)₁₁=0.00, del(A)₉=0.00, del(A)₇=0.00, del(A)₆=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
Allele Frequency Aggregator	Asian	Sub	62	(A)₂₂=1.00	del(A)₁₄=0.00, del(A)₁₁=0.00, del(A)₉=0.00, del(A)₇=0.00, del(A)₆=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
Allele Frequency Aggregator	South Asian	Sub	44	(A)₂₂=1.00	del(A)₁₄=0.00, del(A)₁₁=0.00, del(A)₉=0.00, del(A)₇=0.00, del(A)₆=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

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 17	NC_000017.11:g.73219200_73219213del
GRCh38.p14 chr 17	NC_000017.11:g.73219203_73219213del
GRCh38.p14 chr 17	NC_000017.11:g.73219205_73219213del
GRCh38.p14 chr 17	NC_000017.11:g.73219207_73219213del
GRCh38.p14 chr 17	NC_000017.11:g.73219208_73219213del
GRCh38.p14 chr 17	NC_000017.11:g.73219209_73219213del
GRCh38.p14 chr 17	NC_000017.11:g.73219210_73219213del
GRCh38.p14 chr 17	NC_000017.11:g.73219211_73219213del
GRCh38.p14 chr 17	NC_000017.11:g.73219212_73219213del
GRCh38.p14 chr 17	NC_000017.11:g.73219213del
GRCh38.p14 chr 17	NC_000017.11:g.73219213dup
GRCh38.p14 chr 17	NC_000017.11:g.73219212_73219213dup
GRCh38.p14 chr 17	NC_000017.11:g.73219211_73219213dup
GRCh38.p14 chr 17	NC_000017.11:g.73219210_73219213dup
GRCh38.p14 chr 17	NC_000017.11:g.73219209_73219213dup
GRCh38.p14 chr 17	NC_000017.11:g.73219208_73219213dup
GRCh38.p14 chr 17	NC_000017.11:g.73219192_73219213dup
GRCh38.p14 chr 17	NC_000017.11:g.73219213_73219214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 17	NC_000017.10:g.71215339_71215352del
GRCh37.p13 chr 17	NC_000017.10:g.71215342_71215352del
GRCh37.p13 chr 17	NC_000017.10:g.71215344_71215352del
GRCh37.p13 chr 17	NC_000017.10:g.71215346_71215352del
GRCh37.p13 chr 17	NC_000017.10:g.71215347_71215352del
GRCh37.p13 chr 17	NC_000017.10:g.71215348_71215352del
GRCh37.p13 chr 17	NC_000017.10:g.71215349_71215352del
GRCh37.p13 chr 17	NC_000017.10:g.71215350_71215352del
GRCh37.p13 chr 17	NC_000017.10:g.71215351_71215352del
GRCh37.p13 chr 17	NC_000017.10:g.71215352del
GRCh37.p13 chr 17	NC_000017.10:g.71215352dup
GRCh37.p13 chr 17	NC_000017.10:g.71215351_71215352dup
GRCh37.p13 chr 17	NC_000017.10:g.71215350_71215352dup
GRCh37.p13 chr 17	NC_000017.10:g.71215349_71215352dup
GRCh37.p13 chr 17	NC_000017.10:g.71215348_71215352dup
GRCh37.p13 chr 17	NC_000017.10:g.71215347_71215352dup
GRCh37.p13 chr 17	NC_000017.10:g.71215331_71215352dup
GRCh37.p13 chr 17	NC_000017.10:g.71215352_71215353insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Gene: FAM104A, family with sequence similarity 104 member A (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
VCF1 transcript variant 1	NM_001098832.2:c.322-6465… NM_001098832.2:c.322-6465_322-6452del	N/A	Intron Variant
VCF1 transcript variant 3	NM_001289410.1:c.222-9437… NM_001289410.1:c.222-9437_222-9424del	N/A	Intron Variant
VCF1 transcript variant 4	NM_001289411.1:c.239+7960… NM_001289411.1:c.239+7960_239+7973del	N/A	Intron Variant
VCF1 transcript variant 5	NM_001289412.2:c.121-6465… NM_001289412.2:c.121-6465_121-6452del	N/A	Intron Variant
VCF1 transcript variant 2	NM_032837.3:c.321+7960_32… NM_032837.3:c.321+7960_321+7973del	N/A	Intron Variant
VCF1 transcript variant X1	XM_024451008.2:c.112-6465… XM_024451008.2:c.112-6465_112-6452del	N/A	Intron Variant
VCF1 transcript variant X2	XM_047436947.1:c.111+7960… XM_047436947.1:c.111+7960_111+7973del	N/A	Intron Variant

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

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)₁₄	del(A)₁₁	del(A)₉	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)₂₂	ins(A)₃₆
GRCh38.p14 chr 17	NC_000017.11:g.73219192_73219213=	NC_000017.11:g.73219200_73219213del	NC_000017.11:g.73219203_73219213del	NC_000017.11:g.73219205_73219213del	NC_000017.11:g.73219207_73219213del	NC_000017.11:g.73219208_73219213del	NC_000017.11:g.73219209_73219213del	NC_000017.11:g.73219210_73219213del	NC_000017.11:g.73219211_73219213del	NC_000017.11:g.73219212_73219213del	NC_000017.11:g.73219213del	NC_000017.11:g.73219213dup	NC_000017.11:g.73219212_73219213dup	NC_000017.11:g.73219211_73219213dup	NC_000017.11:g.73219210_73219213dup	NC_000017.11:g.73219209_73219213dup	NC_000017.11:g.73219208_73219213dup	NC_000017.11:g.73219192_73219213dup	NC_000017.11:g.73219213_73219214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 17	NC_000017.10:g.71215331_71215352=	NC_000017.10:g.71215339_71215352del	NC_000017.10:g.71215342_71215352del	NC_000017.10:g.71215344_71215352del	NC_000017.10:g.71215346_71215352del	NC_000017.10:g.71215347_71215352del	NC_000017.10:g.71215348_71215352del	NC_000017.10:g.71215349_71215352del	NC_000017.10:g.71215350_71215352del	NC_000017.10:g.71215351_71215352del	NC_000017.10:g.71215352del	NC_000017.10:g.71215352dup	NC_000017.10:g.71215351_71215352dup	NC_000017.10:g.71215350_71215352dup	NC_000017.10:g.71215349_71215352dup	NC_000017.10:g.71215348_71215352dup	NC_000017.10:g.71215347_71215352dup	NC_000017.10:g.71215331_71215352dup	NC_000017.10:g.71215352_71215353insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
FAM104A transcript variant 1	NM_001098832.1:c.322-6452=	NM_001098832.1:c.322-6465_322-6452del	NM_001098832.1:c.322-6462_322-6452del	NM_001098832.1:c.322-6460_322-6452del	NM_001098832.1:c.322-6458_322-6452del	NM_001098832.1:c.322-6457_322-6452del	NM_001098832.1:c.322-6456_322-6452del	NM_001098832.1:c.322-6455_322-6452del	NM_001098832.1:c.322-6454_322-6452del	NM_001098832.1:c.322-6453_322-6452del	NM_001098832.1:c.322-6452del	NM_001098832.1:c.322-6452dup	NM_001098832.1:c.322-6453_322-6452dup	NM_001098832.1:c.322-6454_322-6452dup	NM_001098832.1:c.322-6455_322-6452dup	NM_001098832.1:c.322-6456_322-6452dup	NM_001098832.1:c.322-6457_322-6452dup	NM_001098832.1:c.322-6473_322-6452dup	NM_001098832.1:c.322-6452_322-6451insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
VCF1 transcript variant 1	NM_001098832.2:c.322-6452=	NM_001098832.2:c.322-6465_322-6452del	NM_001098832.2:c.322-6462_322-6452del	NM_001098832.2:c.322-6460_322-6452del	NM_001098832.2:c.322-6458_322-6452del	NM_001098832.2:c.322-6457_322-6452del	NM_001098832.2:c.322-6456_322-6452del	NM_001098832.2:c.322-6455_322-6452del	NM_001098832.2:c.322-6454_322-6452del	NM_001098832.2:c.322-6453_322-6452del	NM_001098832.2:c.322-6452del	NM_001098832.2:c.322-6452dup	NM_001098832.2:c.322-6453_322-6452dup	NM_001098832.2:c.322-6454_322-6452dup	NM_001098832.2:c.322-6455_322-6452dup	NM_001098832.2:c.322-6456_322-6452dup	NM_001098832.2:c.322-6457_322-6452dup	NM_001098832.2:c.322-6473_322-6452dup	NM_001098832.2:c.322-6452_322-6451insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
VCF1 transcript variant 3	NM_001289410.1:c.222-9424=	NM_001289410.1:c.222-9437_222-9424del	NM_001289410.1:c.222-9434_222-9424del	NM_001289410.1:c.222-9432_222-9424del	NM_001289410.1:c.222-9430_222-9424del	NM_001289410.1:c.222-9429_222-9424del	NM_001289410.1:c.222-9428_222-9424del	NM_001289410.1:c.222-9427_222-9424del	NM_001289410.1:c.222-9426_222-9424del	NM_001289410.1:c.222-9425_222-9424del	NM_001289410.1:c.222-9424del	NM_001289410.1:c.222-9424dup	NM_001289410.1:c.222-9425_222-9424dup	NM_001289410.1:c.222-9426_222-9424dup	NM_001289410.1:c.222-9427_222-9424dup	NM_001289410.1:c.222-9428_222-9424dup	NM_001289410.1:c.222-9429_222-9424dup	NM_001289410.1:c.222-9445_222-9424dup	NM_001289410.1:c.222-9424_222-9423insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
VCF1 transcript variant 4	NM_001289411.1:c.239+7973=	NM_001289411.1:c.239+7960_239+7973del	NM_001289411.1:c.239+7963_239+7973del	NM_001289411.1:c.239+7965_239+7973del	NM_001289411.1:c.239+7967_239+7973del	NM_001289411.1:c.239+7968_239+7973del	NM_001289411.1:c.239+7969_239+7973del	NM_001289411.1:c.239+7970_239+7973del	NM_001289411.1:c.239+7971_239+7973del	NM_001289411.1:c.239+7972_239+7973del	NM_001289411.1:c.239+7973del	NM_001289411.1:c.239+7973dup	NM_001289411.1:c.239+7972_239+7973dup	NM_001289411.1:c.239+7971_239+7973dup	NM_001289411.1:c.239+7970_239+7973dup	NM_001289411.1:c.239+7969_239+7973dup	NM_001289411.1:c.239+7968_239+7973dup	NM_001289411.1:c.239+7952_239+7973dup	NM_001289411.1:c.239+7973_239+7974insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
VCF1 transcript variant 5	NM_001289412.2:c.121-6452=	NM_001289412.2:c.121-6465_121-6452del	NM_001289412.2:c.121-6462_121-6452del	NM_001289412.2:c.121-6460_121-6452del	NM_001289412.2:c.121-6458_121-6452del	NM_001289412.2:c.121-6457_121-6452del	NM_001289412.2:c.121-6456_121-6452del	NM_001289412.2:c.121-6455_121-6452del	NM_001289412.2:c.121-6454_121-6452del	NM_001289412.2:c.121-6453_121-6452del	NM_001289412.2:c.121-6452del	NM_001289412.2:c.121-6452dup	NM_001289412.2:c.121-6453_121-6452dup	NM_001289412.2:c.121-6454_121-6452dup	NM_001289412.2:c.121-6455_121-6452dup	NM_001289412.2:c.121-6456_121-6452dup	NM_001289412.2:c.121-6457_121-6452dup	NM_001289412.2:c.121-6473_121-6452dup	NM_001289412.2:c.121-6452_121-6451insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
FAM104A transcript variant 2	NM_032837.2:c.321+7973=	NM_032837.2:c.321+7960_321+7973del	NM_032837.2:c.321+7963_321+7973del	NM_032837.2:c.321+7965_321+7973del	NM_032837.2:c.321+7967_321+7973del	NM_032837.2:c.321+7968_321+7973del	NM_032837.2:c.321+7969_321+7973del	NM_032837.2:c.321+7970_321+7973del	NM_032837.2:c.321+7971_321+7973del	NM_032837.2:c.321+7972_321+7973del	NM_032837.2:c.321+7973del	NM_032837.2:c.321+7973dup	NM_032837.2:c.321+7972_321+7973dup	NM_032837.2:c.321+7971_321+7973dup	NM_032837.2:c.321+7970_321+7973dup	NM_032837.2:c.321+7969_321+7973dup	NM_032837.2:c.321+7968_321+7973dup	NM_032837.2:c.321+7952_321+7973dup	NM_032837.2:c.321+7973_321+7974insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
VCF1 transcript variant 2	NM_032837.3:c.321+7973=	NM_032837.3:c.321+7960_321+7973del	NM_032837.3:c.321+7963_321+7973del	NM_032837.3:c.321+7965_321+7973del	NM_032837.3:c.321+7967_321+7973del	NM_032837.3:c.321+7968_321+7973del	NM_032837.3:c.321+7969_321+7973del	NM_032837.3:c.321+7970_321+7973del	NM_032837.3:c.321+7971_321+7973del	NM_032837.3:c.321+7972_321+7973del	NM_032837.3:c.321+7973del	NM_032837.3:c.321+7973dup	NM_032837.3:c.321+7972_321+7973dup	NM_032837.3:c.321+7971_321+7973dup	NM_032837.3:c.321+7970_321+7973dup	NM_032837.3:c.321+7969_321+7973dup	NM_032837.3:c.321+7968_321+7973dup	NM_032837.3:c.321+7952_321+7973dup	NM_032837.3:c.321+7973_321+7974insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
FAM104A transcript variant X1	XM_005257740.1:c.121-6452=	XM_005257740.1:c.121-6465_121-6452del	XM_005257740.1:c.121-6462_121-6452del	XM_005257740.1:c.121-6460_121-6452del	XM_005257740.1:c.121-6458_121-6452del	XM_005257740.1:c.121-6457_121-6452del	XM_005257740.1:c.121-6456_121-6452del	XM_005257740.1:c.121-6455_121-6452del	XM_005257740.1:c.121-6454_121-6452del	XM_005257740.1:c.121-6453_121-6452del	XM_005257740.1:c.121-6452del	XM_005257740.1:c.121-6452dup	XM_005257740.1:c.121-6453_121-6452dup	XM_005257740.1:c.121-6454_121-6452dup	XM_005257740.1:c.121-6455_121-6452dup	XM_005257740.1:c.121-6456_121-6452dup	XM_005257740.1:c.121-6457_121-6452dup	XM_005257740.1:c.121-6473_121-6452dup	XM_005257740.1:c.121-6452_121-6451insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
FAM104A transcript variant X2	XM_005257741.1:c.112-6452=	XM_005257741.1:c.112-6465_112-6452del	XM_005257741.1:c.112-6462_112-6452del	XM_005257741.1:c.112-6460_112-6452del	XM_005257741.1:c.112-6458_112-6452del	XM_005257741.1:c.112-6457_112-6452del	XM_005257741.1:c.112-6456_112-6452del	XM_005257741.1:c.112-6455_112-6452del	XM_005257741.1:c.112-6454_112-6452del	XM_005257741.1:c.112-6453_112-6452del	XM_005257741.1:c.112-6452del	XM_005257741.1:c.112-6452dup	XM_005257741.1:c.112-6453_112-6452dup	XM_005257741.1:c.112-6454_112-6452dup	XM_005257741.1:c.112-6455_112-6452dup	XM_005257741.1:c.112-6456_112-6452dup	XM_005257741.1:c.112-6457_112-6452dup	XM_005257741.1:c.112-6473_112-6452dup	XM_005257741.1:c.112-6452_112-6451insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
VCF1 transcript variant X1	XM_024451008.2:c.112-6452=	XM_024451008.2:c.112-6465_112-6452del	XM_024451008.2:c.112-6462_112-6452del	XM_024451008.2:c.112-6460_112-6452del	XM_024451008.2:c.112-6458_112-6452del	XM_024451008.2:c.112-6457_112-6452del	XM_024451008.2:c.112-6456_112-6452del	XM_024451008.2:c.112-6455_112-6452del	XM_024451008.2:c.112-6454_112-6452del	XM_024451008.2:c.112-6453_112-6452del	XM_024451008.2:c.112-6452del	XM_024451008.2:c.112-6452dup	XM_024451008.2:c.112-6453_112-6452dup	XM_024451008.2:c.112-6454_112-6452dup	XM_024451008.2:c.112-6455_112-6452dup	XM_024451008.2:c.112-6456_112-6452dup	XM_024451008.2:c.112-6457_112-6452dup	XM_024451008.2:c.112-6473_112-6452dup	XM_024451008.2:c.112-6452_112-6451insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
VCF1 transcript variant X2	XM_047436947.1:c.111+7973=	XM_047436947.1:c.111+7960_111+7973del	XM_047436947.1:c.111+7963_111+7973del	XM_047436947.1:c.111+7965_111+7973del	XM_047436947.1:c.111+7967_111+7973del	XM_047436947.1:c.111+7968_111+7973del	XM_047436947.1:c.111+7969_111+7973del	XM_047436947.1:c.111+7970_111+7973del	XM_047436947.1:c.111+7971_111+7973del	XM_047436947.1:c.111+7972_111+7973del	XM_047436947.1:c.111+7973del	XM_047436947.1:c.111+7973dup	XM_047436947.1:c.111+7972_111+7973dup	XM_047436947.1:c.111+7971_111+7973dup	XM_047436947.1:c.111+7970_111+7973dup	XM_047436947.1:c.111+7969_111+7973dup	XM_047436947.1:c.111+7968_111+7973dup	XM_047436947.1:c.111+7952_111+7973dup	XM_047436947.1:c.111+7973_111+7974insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

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#.

32 SubSNP, 29 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	EVA	ss3834969727	Apr 27, 2020 (154)
2	GNOMAD	ss4315412105	Apr 27, 2021 (155)
3	GNOMAD	ss4315412106	Apr 27, 2021 (155)
4	GNOMAD	ss4315412107	Apr 27, 2021 (155)
5	GNOMAD	ss4315412108	Apr 27, 2021 (155)
6	GNOMAD	ss4315412109	Apr 27, 2021 (155)
7	GNOMAD	ss4315412110	Apr 27, 2021 (155)
8	GNOMAD	ss4315412111	Apr 27, 2021 (155)
9	GNOMAD	ss4315412112	Apr 27, 2021 (155)
10	GNOMAD	ss4315412113	Apr 27, 2021 (155)
11	GNOMAD	ss4315412114	Apr 27, 2021 (155)
12	GNOMAD	ss4315412115	Apr 27, 2021 (155)
13	GNOMAD	ss4315412116	Apr 27, 2021 (155)
14	GNOMAD	ss4315412117	Apr 27, 2021 (155)
15	GNOMAD	ss4315412118	Apr 27, 2021 (155)
16	GNOMAD	ss4315412119	Apr 27, 2021 (155)
17	TOPMED	ss5043339761	Apr 27, 2021 (155)
18	TOPMED	ss5043339762	Apr 27, 2021 (155)
19	TOMMO_GENOMICS	ss5223406588	Apr 27, 2021 (155)
20	TOMMO_GENOMICS	ss5223406589	Apr 27, 2021 (155)
21	TOMMO_GENOMICS	ss5223406590	Apr 27, 2021 (155)
22	TOMMO_GENOMICS	ss5223406591	Apr 27, 2021 (155)
23	TOMMO_GENOMICS	ss5223406592	Apr 27, 2021 (155)
24	HUGCELL_USP	ss5496849418	Oct 16, 2022 (156)
25	HUGCELL_USP	ss5496849419	Oct 16, 2022 (156)
26	HUGCELL_USP	ss5496849420	Oct 16, 2022 (156)
27	HUGCELL_USP	ss5496849421	Oct 16, 2022 (156)
28	TOMMO_GENOMICS	ss5779927906	Oct 16, 2022 (156)
29	TOMMO_GENOMICS	ss5779927907	Oct 16, 2022 (156)
30	TOMMO_GENOMICS	ss5779927908	Oct 16, 2022 (156)
31	TOMMO_GENOMICS	ss5779927910	Oct 16, 2022 (156)
32	TOMMO_GENOMICS	ss5779927911	Oct 16, 2022 (156)
33	gnomAD - Genomes Submission ignored due to conflicting rows: Row 513450342 (NC_000017.11:73219191::A 9416/39084) Row 513450343 (NC_000017.11:73219191::AA 485/36620) Row 513450344 (NC_000017.11:73219191::AAA 118/38318)...	-	Apr 27, 2021 (155)
34	gnomAD - Genomes Submission ignored due to conflicting rows: Row 513450342 (NC_000017.11:73219191::A 9416/39084) Row 513450343 (NC_000017.11:73219191::AA 485/36620) Row 513450344 (NC_000017.11:73219191::AAA 118/38318)...	-	Apr 27, 2021 (155)
35	gnomAD - Genomes Submission ignored due to conflicting rows: Row 513450342 (NC_000017.11:73219191::A 9416/39084) Row 513450343 (NC_000017.11:73219191::AA 485/36620) Row 513450344 (NC_000017.11:73219191::AAA 118/38318)...	-	Apr 27, 2021 (155)
36	gnomAD - Genomes Submission ignored due to conflicting rows: Row 513450342 (NC_000017.11:73219191::A 9416/39084) Row 513450343 (NC_000017.11:73219191::AA 485/36620) Row 513450344 (NC_000017.11:73219191::AAA 118/38318)...	-	Apr 27, 2021 (155)
37	gnomAD - Genomes Submission ignored due to conflicting rows: Row 513450342 (NC_000017.11:73219191::A 9416/39084) Row 513450343 (NC_000017.11:73219191::AA 485/36620) Row 513450344 (NC_000017.11:73219191::AAA 118/38318)...	-	Apr 27, 2021 (155)
38	gnomAD - Genomes Submission ignored due to conflicting rows: Row 513450342 (NC_000017.11:73219191::A 9416/39084) Row 513450343 (NC_000017.11:73219191::AA 485/36620) Row 513450344 (NC_000017.11:73219191::AAA 118/38318)...	-	Apr 27, 2021 (155)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 513450342 (NC_000017.11:73219191::A 9416/39084) Row 513450343 (NC_000017.11:73219191::AA 485/36620) Row 513450344 (NC_000017.11:73219191::AAA 118/38318)...	-	Apr 27, 2021 (155)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 513450342 (NC_000017.11:73219191::A 9416/39084) Row 513450343 (NC_000017.11:73219191::AA 485/36620) Row 513450344 (NC_000017.11:73219191::AAA 118/38318)...	-	Apr 27, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 513450342 (NC_000017.11:73219191::A 9416/39084) Row 513450343 (NC_000017.11:73219191::AA 485/36620) Row 513450344 (NC_000017.11:73219191::AAA 118/38318)...	-	Apr 27, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 513450342 (NC_000017.11:73219191::A 9416/39084) Row 513450343 (NC_000017.11:73219191::AA 485/36620) Row 513450344 (NC_000017.11:73219191::AAA 118/38318)...	-	Apr 27, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 513450342 (NC_000017.11:73219191::A 9416/39084) Row 513450343 (NC_000017.11:73219191::AA 485/36620) Row 513450344 (NC_000017.11:73219191::AAA 118/38318)...	-	Apr 27, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 513450342 (NC_000017.11:73219191::A 9416/39084) Row 513450343 (NC_000017.11:73219191::AA 485/36620) Row 513450344 (NC_000017.11:73219191::AAA 118/38318)...	-	Apr 27, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 513450342 (NC_000017.11:73219191::A 9416/39084) Row 513450343 (NC_000017.11:73219191::AA 485/36620) Row 513450344 (NC_000017.11:73219191::AAA 118/38318)...	-	Apr 27, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 513450342 (NC_000017.11:73219191::A 9416/39084) Row 513450343 (NC_000017.11:73219191::AA 485/36620) Row 513450344 (NC_000017.11:73219191::AAA 118/38318)...	-	Apr 27, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 513450342 (NC_000017.11:73219191::A 9416/39084) Row 513450343 (NC_000017.11:73219191::AA 485/36620) Row 513450344 (NC_000017.11:73219191::AAA 118/38318)...	-	Apr 27, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 513450342 (NC_000017.11:73219191::A 9416/39084) Row 513450343 (NC_000017.11:73219191::AA 485/36620) Row 513450344 (NC_000017.11:73219191::AAA 118/38318)...	-	Apr 27, 2021 (155)
49	8.3KJPN Submission ignored due to conflicting rows: Row 81375895 (NC_000017.10:71215330:A: 501/16092) Row 81375896 (NC_000017.10:71215330::A 2548/16092) Row 81375897 (NC_000017.10:71215330::AA 296/16092)...	-	Apr 27, 2021 (155)
50	8.3KJPN Submission ignored due to conflicting rows: Row 81375895 (NC_000017.10:71215330:A: 501/16092) Row 81375896 (NC_000017.10:71215330::A 2548/16092) Row 81375897 (NC_000017.10:71215330::AA 296/16092)...	-	Apr 27, 2021 (155)
51	8.3KJPN Submission ignored due to conflicting rows: Row 81375895 (NC_000017.10:71215330:A: 501/16092) Row 81375896 (NC_000017.10:71215330::A 2548/16092) Row 81375897 (NC_000017.10:71215330::AA 296/16092)...	-	Apr 27, 2021 (155)
52	8.3KJPN Submission ignored due to conflicting rows: Row 81375895 (NC_000017.10:71215330:A: 501/16092) Row 81375896 (NC_000017.10:71215330::A 2548/16092) Row 81375897 (NC_000017.10:71215330::AA 296/16092)...	-	Apr 27, 2021 (155)
53	8.3KJPN Submission ignored due to conflicting rows: Row 81375895 (NC_000017.10:71215330:A: 501/16092) Row 81375896 (NC_000017.10:71215330::A 2548/16092) Row 81375897 (NC_000017.10:71215330::AA 296/16092)...	-	Apr 27, 2021 (155)
54	14KJPN Submission ignored due to conflicting rows: Row 113765010 (NC_000017.11:73219191::A 3887/26968) Row 113765011 (NC_000017.11:73219191:A: 886/26968) Row 113765012 (NC_000017.11:73219191::AA 420/26968)...	-	Oct 16, 2022 (156)
55	14KJPN Submission ignored due to conflicting rows: Row 113765010 (NC_000017.11:73219191::A 3887/26968) Row 113765011 (NC_000017.11:73219191:A: 886/26968) Row 113765012 (NC_000017.11:73219191::AA 420/26968)...	-	Oct 16, 2022 (156)
56	14KJPN Submission ignored due to conflicting rows: Row 113765010 (NC_000017.11:73219191::A 3887/26968) Row 113765011 (NC_000017.11:73219191:A: 886/26968) Row 113765012 (NC_000017.11:73219191::AA 420/26968)...	-	Oct 16, 2022 (156)
57	14KJPN Submission ignored due to conflicting rows: Row 113765010 (NC_000017.11:73219191::A 3887/26968) Row 113765011 (NC_000017.11:73219191:A: 886/26968) Row 113765012 (NC_000017.11:73219191::AA 420/26968)...	-	Oct 16, 2022 (156)
58	14KJPN Submission ignored due to conflicting rows: Row 113765010 (NC_000017.11:73219191::A 3887/26968) Row 113765011 (NC_000017.11:73219191:A: 886/26968) Row 113765012 (NC_000017.11:73219191::AA 420/26968)...	-	Oct 16, 2022 (156)
59	TopMed Submission ignored due to conflicting rows: Row 258885423 (NC_000017.11:73219191:AAAAAAAAA: 1/264690) Row 258885424 (NC_000017.11:73219191:AAAAAAAAAAAAAA: 2/264690)	-	Apr 27, 2021 (155)
60	TopMed Submission ignored due to conflicting rows: Row 258885423 (NC_000017.11:73219191:AAAAAAAAA: 1/264690) Row 258885424 (NC_000017.11:73219191:AAAAAAAAAAAAAA: 2/264690)	-	Apr 27, 2021 (155)
61	ALFA	NC_000017.11 - 73219192	Apr 27, 2021 (155)

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
ss4315412119, ss5043339762	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAA:	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA	(self)
9447533224	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA	(self)
ss4315412118	NC_000017.11:73219191:AAAAAAAAAAA:	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
9447533224	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss5043339761	NC_000017.11:73219191:AAAAAAAAA:	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
9447533224	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
9447533224	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4315412117	NC_000017.11:73219191:AAAAAA:	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
9447533224	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4315412116	NC_000017.11:73219191:AAAAA:	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4315412115	NC_000017.11:73219191:AAAA:	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
9447533224	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4315412114	NC_000017.11:73219191:AAA:	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
9447533224	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4315412113	NC_000017.11:73219191:AA:	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
9447533224	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss5223406588	NC_000017.10:71215330:A:	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss5496849421, ss5779927907	NC_000017.11:73219191:A:	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
9447533224	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss5223406589	NC_000017.10:71215330::A	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4315412105, ss5496849418, ss5779927906	NC_000017.11:73219191::A	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
9447533224	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3834969727, ss5223406590	NC_000017.10:71215330::AA	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4315412106, ss5496849419, ss5779927908	NC_000017.11:73219191::AA	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
9447533224	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5223406591	NC_000017.10:71215330::AAA	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4315412107, ss5496849420, ss5779927910	NC_000017.11:73219191::AAA	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
9447533224	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5223406592	NC_000017.10:71215330::AAAA	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4315412108, ss5779927911	NC_000017.11:73219191::AAAA	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4315412109	NC_000017.11:73219191::AAAAA	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4315412110	NC_000017.11:73219191::AAAAAA	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4315412111	NC_000017.11:73219191::AAAAAAAAAAA… NC_000017.11:73219191::AAAAAAAAAAAAAAAAAAAAAA	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4315412112	NC_000017.11:73219191::AAAAAAAAAAA… NC_000017.11:73219191::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3268421043	NC_000017.11:73219191:AAAAAAA:	NC_000017.11:73219191:AAAAAAAAAAAA… NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1222794052

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1222794052