Name: rs111471814
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.

rs111471814

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:28772574-28772589 (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)₇ / del(A)₅ / del(A)₄ / delA…
del(A)₇ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₁₅
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₇=0.00000 (0/11332, ALFA)
del(A)₅=0.00000 (0/11332, ALFA)
del(A)₄=0.00000 (0/11332, ALFA) (+ 8 more)
delAAA=0.00000 (0/11332, ALFA)
delAA=0.00000 (0/11332, ALFA)
delA=0.00000 (0/11332, ALFA)
dupA=0.00000 (0/11332, ALFA)
dupAA=0.00000 (0/11332, ALFA)
dupAAA=0.00000 (0/11332, ALFA)
dup(A)₄=0.00000 (0/11332, ALFA)
(A)₁₆=0.4681 (2344/5008, 1000G)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: FAM222B : Intron Variant
LOC124903965 : 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	11332	AAAAAAAAAAAAAAAA=1.00000	AAAAAAAAA=0.00000, AAAAAAAAAAA=0.00000, AAAAAAAAAAAA=0.00000, AAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAA=0.00000	1.0	N/A
European	Sub	9186	AAAAAAAAAAAAAAAA=1.0000	AAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African	Sub	952	AAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
African Others	Sub	28	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
African American	Sub	924	AAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
Asian	Sub	94	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
East Asian	Sub	68	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other Asian	Sub	26	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 1	Sub	114	AAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
Latin American 2	Sub	536	AAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
South Asian	Sub	68	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other	Sub	382	AAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	11332	(A)₁₆=1.00000	del(A)₇=0.00000, del(A)₅=0.00000, del(A)₄=0.00000, delAAA=0.00000, delAA=0.00000, delA=0.00000, dupA=0.00000, dupAA=0.00000, dupAAA=0.00000, dup(A)₄=0.00000
Allele Frequency Aggregator	European	Sub	9186	(A)₁₆=1.0000	del(A)₇=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	952	(A)₁₆=1.000	del(A)₇=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	536	(A)₁₆=1.000	del(A)₇=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	Other	Sub	382	(A)₁₆=1.000	del(A)₇=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	114	(A)₁₆=1.000	del(A)₇=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	Asian	Sub	94	(A)₁₆=1.00	del(A)₇=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	68	(A)₁₆=1.00	del(A)₇=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
1000Genomes	Global	Study-wide	5008	(A)₁₆=0.4681	delA=0.5319
1000Genomes	African	Sub	1322	(A)₁₆=0.3026	delA=0.6974
1000Genomes	East Asian	Sub	1008	(A)₁₆=0.5367	delA=0.4633
1000Genomes	Europe	Sub	1006	(A)₁₆=0.5547	delA=0.4453
1000Genomes	South Asian	Sub	978	(A)₁₆=0.461	delA=0.539
1000Genomes	American	Sub	694	(A)₁₆=0.568	delA=0.432

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.28772583_28772589del
GRCh38.p14 chr 17	NC_000017.11:g.28772585_28772589del
GRCh38.p14 chr 17	NC_000017.11:g.28772586_28772589del
GRCh38.p14 chr 17	NC_000017.11:g.28772587_28772589del
GRCh38.p14 chr 17	NC_000017.11:g.28772588_28772589del
GRCh38.p14 chr 17	NC_000017.11:g.28772589del
GRCh38.p14 chr 17	NC_000017.11:g.28772589dup
GRCh38.p14 chr 17	NC_000017.11:g.28772588_28772589dup
GRCh38.p14 chr 17	NC_000017.11:g.28772587_28772589dup
GRCh38.p14 chr 17	NC_000017.11:g.28772586_28772589dup
GRCh38.p14 chr 17	NC_000017.11:g.28772575_28772589dup
GRCh37.p13 chr 17	NC_000017.10:g.27099601_27099607del
GRCh37.p13 chr 17	NC_000017.10:g.27099603_27099607del
GRCh37.p13 chr 17	NC_000017.10:g.27099604_27099607del
GRCh37.p13 chr 17	NC_000017.10:g.27099605_27099607del
GRCh37.p13 chr 17	NC_000017.10:g.27099606_27099607del
GRCh37.p13 chr 17	NC_000017.10:g.27099607del
GRCh37.p13 chr 17	NC_000017.10:g.27099607dup
GRCh37.p13 chr 17	NC_000017.10:g.27099606_27099607dup
GRCh37.p13 chr 17	NC_000017.10:g.27099605_27099607dup
GRCh37.p13 chr 17	NC_000017.10:g.27099604_27099607dup
GRCh37.p13 chr 17	NC_000017.10:g.27099593_27099607dup

Gene: FAM222B, family with sequence similarity 222 member B (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
FAM222B transcript variant 1	NM_001077498.3:c.-40-5873… NM_001077498.3:c.-40-5873_-40-5867del	N/A	Intron Variant
FAM222B transcript variant 3	NM_001288631.2:c.-205-587… NM_001288631.2:c.-205-5873_-205-5867del	N/A	Intron Variant
FAM222B transcript variant 4	NM_001288632.2:c.-40-5873… NM_001288632.2:c.-40-5873_-40-5867del	N/A	Intron Variant
FAM222B transcript variant 5	NM_001288633.2:c.-41+1135… NM_001288633.2:c.-41+1135_-41+1141del	N/A	Intron Variant
FAM222B transcript variant 6	NM_001288634.2:c.-40-5873… NM_001288634.2:c.-40-5873_-40-5867del	N/A	Intron Variant
FAM222B transcript variant 7	NM_001288635.2:c.-40-5873… NM_001288635.2:c.-40-5873_-40-5867del	N/A	Intron Variant
FAM222B transcript variant 8	NM_001288636.2:c.-313+446… NM_001288636.2:c.-313+4468_-313+4474del	N/A	Intron Variant
FAM222B transcript variant 9	NM_001288637.2:c.-313+446… NM_001288637.2:c.-313+4468_-313+4474del	N/A	Intron Variant
FAM222B transcript variant 10	NM_001288638.2:c.-312-587… NM_001288638.2:c.-312-5873_-312-5867del	N/A	Intron Variant
FAM222B transcript variant 11	NM_001288639.2:c.-312-587… NM_001288639.2:c.-312-5873_-312-5867del	N/A	Intron Variant
FAM222B transcript variant 12	NM_001288640.2:c.-312-587… NM_001288640.2:c.-312-5873_-312-5867del	N/A	Intron Variant
FAM222B transcript variant 2	NM_018182.4:c.-40-5873_-4… NM_018182.4:c.-40-5873_-40-5867del	N/A	Intron Variant
FAM222B transcript variant X1	XM_047436371.1:c.-40-5873… XM_047436371.1:c.-40-5873_-40-5867del	N/A	Intron Variant
FAM222B transcript variant X2	XM_047436372.1:c.-40-5873… XM_047436372.1:c.-40-5873_-40-5867del	N/A	Intron Variant
FAM222B transcript variant X3	XM_047436373.1:c.-40-5873… XM_047436373.1:c.-40-5873_-40-5867del	N/A	Intron Variant
FAM222B transcript variant X4	XM_047436374.1:c.-40-5873… XM_047436374.1:c.-40-5873_-40-5867del	N/A	Intron Variant
FAM222B transcript variant X5	XM_047436375.1:c.-40-5873… XM_047436375.1:c.-40-5873_-40-5867del	N/A	Intron Variant
FAM222B transcript variant X6	XM_047436376.1:c.-40-5873… XM_047436376.1:c.-40-5873_-40-5867del	N/A	Intron Variant
FAM222B transcript variant X7	XM_047436377.1:c.-40-5873… XM_047436377.1:c.-40-5873_-40-5867del	N/A	Intron Variant
FAM222B transcript variant X8	XM_047436378.1:c.-40-5873… XM_047436378.1:c.-40-5873_-40-5867del	N/A	Intron Variant
FAM222B transcript variant X9	XM_047436379.1:c.-40-5873… XM_047436379.1:c.-40-5873_-40-5867del	N/A	Intron Variant
FAM222B transcript variant X10	XM_047436380.1:c.-40-5873… XM_047436380.1:c.-40-5873_-40-5867del	N/A	Intron Variant
FAM222B transcript variant X11	XM_047436381.1:c.-40-5873… XM_047436381.1:c.-40-5873_-40-5867del	N/A	Intron Variant
FAM222B transcript variant X12	XM_047436382.1:c.-40-5873… XM_047436382.1:c.-40-5873_-40-5867del	N/A	Intron Variant
FAM222B transcript variant X13	XM_047436383.1:c.-40-5873… XM_047436383.1:c.-40-5873_-40-5867del	N/A	Intron Variant
FAM222B transcript variant X14	XM_047436384.1:c.-41+4468… XM_047436384.1:c.-41+4468_-41+4474del	N/A	Intron Variant
FAM222B transcript variant X15	XM_047436385.1:c.-40-5873… XM_047436385.1:c.-40-5873_-40-5867del	N/A	Intron Variant
FAM222B transcript variant X16	XM_047436386.1:c.-40-5873… XM_047436386.1:c.-40-5873_-40-5867del	N/A	Intron Variant

Gene: LOC124903965, uncharacterized LOC124903965 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC124903965 transcript	XR_007065689.1:n.	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)₁₆=	del(A)₇	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₁₅
GRCh38.p14 chr 17	NC_000017.11:g.28772574_28772589=	NC_000017.11:g.28772583_28772589del	NC_000017.11:g.28772585_28772589del	NC_000017.11:g.28772586_28772589del	NC_000017.11:g.28772587_28772589del	NC_000017.11:g.28772588_28772589del	NC_000017.11:g.28772589del	NC_000017.11:g.28772589dup	NC_000017.11:g.28772588_28772589dup	NC_000017.11:g.28772587_28772589dup	NC_000017.11:g.28772586_28772589dup	NC_000017.11:g.28772575_28772589dup
GRCh37.p13 chr 17	NC_000017.10:g.27099592_27099607=	NC_000017.10:g.27099601_27099607del	NC_000017.10:g.27099603_27099607del	NC_000017.10:g.27099604_27099607del	NC_000017.10:g.27099605_27099607del	NC_000017.10:g.27099606_27099607del	NC_000017.10:g.27099607del	NC_000017.10:g.27099607dup	NC_000017.10:g.27099606_27099607dup	NC_000017.10:g.27099605_27099607dup	NC_000017.10:g.27099604_27099607dup	NC_000017.10:g.27099593_27099607dup
FAM222B transcript variant 1	NM_001077498.1:c.-40-5867=	NM_001077498.1:c.-40-5873_-40-5867del	NM_001077498.1:c.-40-5871_-40-5867del	NM_001077498.1:c.-40-5870_-40-5867del	NM_001077498.1:c.-40-5869_-40-5867del	NM_001077498.1:c.-40-5868_-40-5867del	NM_001077498.1:c.-40-5867del	NM_001077498.1:c.-40-5867dup	NM_001077498.1:c.-40-5868_-40-5867dup	NM_001077498.1:c.-40-5869_-40-5867dup	NM_001077498.1:c.-40-5870_-40-5867dup	NM_001077498.1:c.-40-5881_-40-5867dup
FAM222B transcript variant 1	NM_001077498.3:c.-40-5867=	NM_001077498.3:c.-40-5873_-40-5867del	NM_001077498.3:c.-40-5871_-40-5867del	NM_001077498.3:c.-40-5870_-40-5867del	NM_001077498.3:c.-40-5869_-40-5867del	NM_001077498.3:c.-40-5868_-40-5867del	NM_001077498.3:c.-40-5867del	NM_001077498.3:c.-40-5867dup	NM_001077498.3:c.-40-5868_-40-5867dup	NM_001077498.3:c.-40-5869_-40-5867dup	NM_001077498.3:c.-40-5870_-40-5867dup	NM_001077498.3:c.-40-5881_-40-5867dup
FAM222B transcript variant 3	NM_001288631.2:c.-205-5867=	NM_001288631.2:c.-205-5873_-205-5867del	NM_001288631.2:c.-205-5871_-205-5867del	NM_001288631.2:c.-205-5870_-205-5867del	NM_001288631.2:c.-205-5869_-205-5867del	NM_001288631.2:c.-205-5868_-205-5867del	NM_001288631.2:c.-205-5867del	NM_001288631.2:c.-205-5867dup	NM_001288631.2:c.-205-5868_-205-5867dup	NM_001288631.2:c.-205-5869_-205-5867dup	NM_001288631.2:c.-205-5870_-205-5867dup	NM_001288631.2:c.-205-5881_-205-5867dup
FAM222B transcript variant 4	NM_001288632.2:c.-40-5867=	NM_001288632.2:c.-40-5873_-40-5867del	NM_001288632.2:c.-40-5871_-40-5867del	NM_001288632.2:c.-40-5870_-40-5867del	NM_001288632.2:c.-40-5869_-40-5867del	NM_001288632.2:c.-40-5868_-40-5867del	NM_001288632.2:c.-40-5867del	NM_001288632.2:c.-40-5867dup	NM_001288632.2:c.-40-5868_-40-5867dup	NM_001288632.2:c.-40-5869_-40-5867dup	NM_001288632.2:c.-40-5870_-40-5867dup	NM_001288632.2:c.-40-5881_-40-5867dup
FAM222B transcript variant 5	NM_001288633.2:c.-41+1141=	NM_001288633.2:c.-41+1135_-41+1141del	NM_001288633.2:c.-41+1137_-41+1141del	NM_001288633.2:c.-41+1138_-41+1141del	NM_001288633.2:c.-41+1139_-41+1141del	NM_001288633.2:c.-41+1140_-41+1141del	NM_001288633.2:c.-41+1141del	NM_001288633.2:c.-41+1141dup	NM_001288633.2:c.-41+1140_-41+1141dup	NM_001288633.2:c.-41+1139_-41+1141dup	NM_001288633.2:c.-41+1138_-41+1141dup	NM_001288633.2:c.-41+1127_-41+1141dup
FAM222B transcript variant 6	NM_001288634.2:c.-40-5867=	NM_001288634.2:c.-40-5873_-40-5867del	NM_001288634.2:c.-40-5871_-40-5867del	NM_001288634.2:c.-40-5870_-40-5867del	NM_001288634.2:c.-40-5869_-40-5867del	NM_001288634.2:c.-40-5868_-40-5867del	NM_001288634.2:c.-40-5867del	NM_001288634.2:c.-40-5867dup	NM_001288634.2:c.-40-5868_-40-5867dup	NM_001288634.2:c.-40-5869_-40-5867dup	NM_001288634.2:c.-40-5870_-40-5867dup	NM_001288634.2:c.-40-5881_-40-5867dup
FAM222B transcript variant 7	NM_001288635.2:c.-40-5867=	NM_001288635.2:c.-40-5873_-40-5867del	NM_001288635.2:c.-40-5871_-40-5867del	NM_001288635.2:c.-40-5870_-40-5867del	NM_001288635.2:c.-40-5869_-40-5867del	NM_001288635.2:c.-40-5868_-40-5867del	NM_001288635.2:c.-40-5867del	NM_001288635.2:c.-40-5867dup	NM_001288635.2:c.-40-5868_-40-5867dup	NM_001288635.2:c.-40-5869_-40-5867dup	NM_001288635.2:c.-40-5870_-40-5867dup	NM_001288635.2:c.-40-5881_-40-5867dup
FAM222B transcript variant 8	NM_001288636.2:c.-313+4474=	NM_001288636.2:c.-313+4468_-313+4474del	NM_001288636.2:c.-313+4470_-313+4474del	NM_001288636.2:c.-313+4471_-313+4474del	NM_001288636.2:c.-313+4472_-313+4474del	NM_001288636.2:c.-313+4473_-313+4474del	NM_001288636.2:c.-313+4474del	NM_001288636.2:c.-313+4474dup	NM_001288636.2:c.-313+4473_-313+4474dup	NM_001288636.2:c.-313+4472_-313+4474dup	NM_001288636.2:c.-313+4471_-313+4474dup	NM_001288636.2:c.-313+4460_-313+4474dup
FAM222B transcript variant 9	NM_001288637.2:c.-313+4474=	NM_001288637.2:c.-313+4468_-313+4474del	NM_001288637.2:c.-313+4470_-313+4474del	NM_001288637.2:c.-313+4471_-313+4474del	NM_001288637.2:c.-313+4472_-313+4474del	NM_001288637.2:c.-313+4473_-313+4474del	NM_001288637.2:c.-313+4474del	NM_001288637.2:c.-313+4474dup	NM_001288637.2:c.-313+4473_-313+4474dup	NM_001288637.2:c.-313+4472_-313+4474dup	NM_001288637.2:c.-313+4471_-313+4474dup	NM_001288637.2:c.-313+4460_-313+4474dup
FAM222B transcript variant 10	NM_001288638.2:c.-312-5867=	NM_001288638.2:c.-312-5873_-312-5867del	NM_001288638.2:c.-312-5871_-312-5867del	NM_001288638.2:c.-312-5870_-312-5867del	NM_001288638.2:c.-312-5869_-312-5867del	NM_001288638.2:c.-312-5868_-312-5867del	NM_001288638.2:c.-312-5867del	NM_001288638.2:c.-312-5867dup	NM_001288638.2:c.-312-5868_-312-5867dup	NM_001288638.2:c.-312-5869_-312-5867dup	NM_001288638.2:c.-312-5870_-312-5867dup	NM_001288638.2:c.-312-5881_-312-5867dup
FAM222B transcript variant 11	NM_001288639.2:c.-312-5867=	NM_001288639.2:c.-312-5873_-312-5867del	NM_001288639.2:c.-312-5871_-312-5867del	NM_001288639.2:c.-312-5870_-312-5867del	NM_001288639.2:c.-312-5869_-312-5867del	NM_001288639.2:c.-312-5868_-312-5867del	NM_001288639.2:c.-312-5867del	NM_001288639.2:c.-312-5867dup	NM_001288639.2:c.-312-5868_-312-5867dup	NM_001288639.2:c.-312-5869_-312-5867dup	NM_001288639.2:c.-312-5870_-312-5867dup	NM_001288639.2:c.-312-5881_-312-5867dup
FAM222B transcript variant 12	NM_001288640.2:c.-312-5867=	NM_001288640.2:c.-312-5873_-312-5867del	NM_001288640.2:c.-312-5871_-312-5867del	NM_001288640.2:c.-312-5870_-312-5867del	NM_001288640.2:c.-312-5869_-312-5867del	NM_001288640.2:c.-312-5868_-312-5867del	NM_001288640.2:c.-312-5867del	NM_001288640.2:c.-312-5867dup	NM_001288640.2:c.-312-5868_-312-5867dup	NM_001288640.2:c.-312-5869_-312-5867dup	NM_001288640.2:c.-312-5870_-312-5867dup	NM_001288640.2:c.-312-5881_-312-5867dup
FAM222B transcript variant 2	NM_018182.2:c.-40-5867=	NM_018182.2:c.-40-5873_-40-5867del	NM_018182.2:c.-40-5871_-40-5867del	NM_018182.2:c.-40-5870_-40-5867del	NM_018182.2:c.-40-5869_-40-5867del	NM_018182.2:c.-40-5868_-40-5867del	NM_018182.2:c.-40-5867del	NM_018182.2:c.-40-5867dup	NM_018182.2:c.-40-5868_-40-5867dup	NM_018182.2:c.-40-5869_-40-5867dup	NM_018182.2:c.-40-5870_-40-5867dup	NM_018182.2:c.-40-5881_-40-5867dup
FAM222B transcript variant 2	NM_018182.4:c.-40-5867=	NM_018182.4:c.-40-5873_-40-5867del	NM_018182.4:c.-40-5871_-40-5867del	NM_018182.4:c.-40-5870_-40-5867del	NM_018182.4:c.-40-5869_-40-5867del	NM_018182.4:c.-40-5868_-40-5867del	NM_018182.4:c.-40-5867del	NM_018182.4:c.-40-5867dup	NM_018182.4:c.-40-5868_-40-5867dup	NM_018182.4:c.-40-5869_-40-5867dup	NM_018182.4:c.-40-5870_-40-5867dup	NM_018182.4:c.-40-5881_-40-5867dup
FAM222B transcript variant X1	XM_005258002.1:c.-40-5867=	XM_005258002.1:c.-40-5873_-40-5867del	XM_005258002.1:c.-40-5871_-40-5867del	XM_005258002.1:c.-40-5870_-40-5867del	XM_005258002.1:c.-40-5869_-40-5867del	XM_005258002.1:c.-40-5868_-40-5867del	XM_005258002.1:c.-40-5867del	XM_005258002.1:c.-40-5867dup	XM_005258002.1:c.-40-5868_-40-5867dup	XM_005258002.1:c.-40-5869_-40-5867dup	XM_005258002.1:c.-40-5870_-40-5867dup	XM_005258002.1:c.-40-5881_-40-5867dup
FAM222B transcript variant X2	XM_005258003.1:c.-312-5867=	XM_005258003.1:c.-312-5873_-312-5867del	XM_005258003.1:c.-312-5871_-312-5867del	XM_005258003.1:c.-312-5870_-312-5867del	XM_005258003.1:c.-312-5869_-312-5867del	XM_005258003.1:c.-312-5868_-312-5867del	XM_005258003.1:c.-312-5867del	XM_005258003.1:c.-312-5867dup	XM_005258003.1:c.-312-5868_-312-5867dup	XM_005258003.1:c.-312-5869_-312-5867dup	XM_005258003.1:c.-312-5870_-312-5867dup	XM_005258003.1:c.-312-5881_-312-5867dup
FAM222B transcript variant X3	XM_005258004.1:c.-312-5867=	XM_005258004.1:c.-312-5873_-312-5867del	XM_005258004.1:c.-312-5871_-312-5867del	XM_005258004.1:c.-312-5870_-312-5867del	XM_005258004.1:c.-312-5869_-312-5867del	XM_005258004.1:c.-312-5868_-312-5867del	XM_005258004.1:c.-312-5867del	XM_005258004.1:c.-312-5867dup	XM_005258004.1:c.-312-5868_-312-5867dup	XM_005258004.1:c.-312-5869_-312-5867dup	XM_005258004.1:c.-312-5870_-312-5867dup	XM_005258004.1:c.-312-5881_-312-5867dup
FAM222B transcript variant X4	XM_005258005.1:c.-312-5867=	XM_005258005.1:c.-312-5873_-312-5867del	XM_005258005.1:c.-312-5871_-312-5867del	XM_005258005.1:c.-312-5870_-312-5867del	XM_005258005.1:c.-312-5869_-312-5867del	XM_005258005.1:c.-312-5868_-312-5867del	XM_005258005.1:c.-312-5867del	XM_005258005.1:c.-312-5867dup	XM_005258005.1:c.-312-5868_-312-5867dup	XM_005258005.1:c.-312-5869_-312-5867dup	XM_005258005.1:c.-312-5870_-312-5867dup	XM_005258005.1:c.-312-5881_-312-5867dup
FAM222B transcript variant X5	XM_005258006.1:c.-312-5867=	XM_005258006.1:c.-312-5873_-312-5867del	XM_005258006.1:c.-312-5871_-312-5867del	XM_005258006.1:c.-312-5870_-312-5867del	XM_005258006.1:c.-312-5869_-312-5867del	XM_005258006.1:c.-312-5868_-312-5867del	XM_005258006.1:c.-312-5867del	XM_005258006.1:c.-312-5867dup	XM_005258006.1:c.-312-5868_-312-5867dup	XM_005258006.1:c.-312-5869_-312-5867dup	XM_005258006.1:c.-312-5870_-312-5867dup	XM_005258006.1:c.-312-5881_-312-5867dup
FAM222B transcript variant X6	XM_005258007.1:c.-312-5867=	XM_005258007.1:c.-312-5873_-312-5867del	XM_005258007.1:c.-312-5871_-312-5867del	XM_005258007.1:c.-312-5870_-312-5867del	XM_005258007.1:c.-312-5869_-312-5867del	XM_005258007.1:c.-312-5868_-312-5867del	XM_005258007.1:c.-312-5867del	XM_005258007.1:c.-312-5867dup	XM_005258007.1:c.-312-5868_-312-5867dup	XM_005258007.1:c.-312-5869_-312-5867dup	XM_005258007.1:c.-312-5870_-312-5867dup	XM_005258007.1:c.-312-5881_-312-5867dup
FAM222B transcript variant X1	XM_047436371.1:c.-40-5867=	XM_047436371.1:c.-40-5873_-40-5867del	XM_047436371.1:c.-40-5871_-40-5867del	XM_047436371.1:c.-40-5870_-40-5867del	XM_047436371.1:c.-40-5869_-40-5867del	XM_047436371.1:c.-40-5868_-40-5867del	XM_047436371.1:c.-40-5867del	XM_047436371.1:c.-40-5867dup	XM_047436371.1:c.-40-5868_-40-5867dup	XM_047436371.1:c.-40-5869_-40-5867dup	XM_047436371.1:c.-40-5870_-40-5867dup	XM_047436371.1:c.-40-5881_-40-5867dup
FAM222B transcript variant X2	XM_047436372.1:c.-40-5867=	XM_047436372.1:c.-40-5873_-40-5867del	XM_047436372.1:c.-40-5871_-40-5867del	XM_047436372.1:c.-40-5870_-40-5867del	XM_047436372.1:c.-40-5869_-40-5867del	XM_047436372.1:c.-40-5868_-40-5867del	XM_047436372.1:c.-40-5867del	XM_047436372.1:c.-40-5867dup	XM_047436372.1:c.-40-5868_-40-5867dup	XM_047436372.1:c.-40-5869_-40-5867dup	XM_047436372.1:c.-40-5870_-40-5867dup	XM_047436372.1:c.-40-5881_-40-5867dup
FAM222B transcript variant X3	XM_047436373.1:c.-40-5867=	XM_047436373.1:c.-40-5873_-40-5867del	XM_047436373.1:c.-40-5871_-40-5867del	XM_047436373.1:c.-40-5870_-40-5867del	XM_047436373.1:c.-40-5869_-40-5867del	XM_047436373.1:c.-40-5868_-40-5867del	XM_047436373.1:c.-40-5867del	XM_047436373.1:c.-40-5867dup	XM_047436373.1:c.-40-5868_-40-5867dup	XM_047436373.1:c.-40-5869_-40-5867dup	XM_047436373.1:c.-40-5870_-40-5867dup	XM_047436373.1:c.-40-5881_-40-5867dup
FAM222B transcript variant X4	XM_047436374.1:c.-40-5867=	XM_047436374.1:c.-40-5873_-40-5867del	XM_047436374.1:c.-40-5871_-40-5867del	XM_047436374.1:c.-40-5870_-40-5867del	XM_047436374.1:c.-40-5869_-40-5867del	XM_047436374.1:c.-40-5868_-40-5867del	XM_047436374.1:c.-40-5867del	XM_047436374.1:c.-40-5867dup	XM_047436374.1:c.-40-5868_-40-5867dup	XM_047436374.1:c.-40-5869_-40-5867dup	XM_047436374.1:c.-40-5870_-40-5867dup	XM_047436374.1:c.-40-5881_-40-5867dup
FAM222B transcript variant X5	XM_047436375.1:c.-40-5867=	XM_047436375.1:c.-40-5873_-40-5867del	XM_047436375.1:c.-40-5871_-40-5867del	XM_047436375.1:c.-40-5870_-40-5867del	XM_047436375.1:c.-40-5869_-40-5867del	XM_047436375.1:c.-40-5868_-40-5867del	XM_047436375.1:c.-40-5867del	XM_047436375.1:c.-40-5867dup	XM_047436375.1:c.-40-5868_-40-5867dup	XM_047436375.1:c.-40-5869_-40-5867dup	XM_047436375.1:c.-40-5870_-40-5867dup	XM_047436375.1:c.-40-5881_-40-5867dup
FAM222B transcript variant X6	XM_047436376.1:c.-40-5867=	XM_047436376.1:c.-40-5873_-40-5867del	XM_047436376.1:c.-40-5871_-40-5867del	XM_047436376.1:c.-40-5870_-40-5867del	XM_047436376.1:c.-40-5869_-40-5867del	XM_047436376.1:c.-40-5868_-40-5867del	XM_047436376.1:c.-40-5867del	XM_047436376.1:c.-40-5867dup	XM_047436376.1:c.-40-5868_-40-5867dup	XM_047436376.1:c.-40-5869_-40-5867dup	XM_047436376.1:c.-40-5870_-40-5867dup	XM_047436376.1:c.-40-5881_-40-5867dup
FAM222B transcript variant X7	XM_047436377.1:c.-40-5867=	XM_047436377.1:c.-40-5873_-40-5867del	XM_047436377.1:c.-40-5871_-40-5867del	XM_047436377.1:c.-40-5870_-40-5867del	XM_047436377.1:c.-40-5869_-40-5867del	XM_047436377.1:c.-40-5868_-40-5867del	XM_047436377.1:c.-40-5867del	XM_047436377.1:c.-40-5867dup	XM_047436377.1:c.-40-5868_-40-5867dup	XM_047436377.1:c.-40-5869_-40-5867dup	XM_047436377.1:c.-40-5870_-40-5867dup	XM_047436377.1:c.-40-5881_-40-5867dup
FAM222B transcript variant X8	XM_047436378.1:c.-40-5867=	XM_047436378.1:c.-40-5873_-40-5867del	XM_047436378.1:c.-40-5871_-40-5867del	XM_047436378.1:c.-40-5870_-40-5867del	XM_047436378.1:c.-40-5869_-40-5867del	XM_047436378.1:c.-40-5868_-40-5867del	XM_047436378.1:c.-40-5867del	XM_047436378.1:c.-40-5867dup	XM_047436378.1:c.-40-5868_-40-5867dup	XM_047436378.1:c.-40-5869_-40-5867dup	XM_047436378.1:c.-40-5870_-40-5867dup	XM_047436378.1:c.-40-5881_-40-5867dup
FAM222B transcript variant X9	XM_047436379.1:c.-40-5867=	XM_047436379.1:c.-40-5873_-40-5867del	XM_047436379.1:c.-40-5871_-40-5867del	XM_047436379.1:c.-40-5870_-40-5867del	XM_047436379.1:c.-40-5869_-40-5867del	XM_047436379.1:c.-40-5868_-40-5867del	XM_047436379.1:c.-40-5867del	XM_047436379.1:c.-40-5867dup	XM_047436379.1:c.-40-5868_-40-5867dup	XM_047436379.1:c.-40-5869_-40-5867dup	XM_047436379.1:c.-40-5870_-40-5867dup	XM_047436379.1:c.-40-5881_-40-5867dup
FAM222B transcript variant X10	XM_047436380.1:c.-40-5867=	XM_047436380.1:c.-40-5873_-40-5867del	XM_047436380.1:c.-40-5871_-40-5867del	XM_047436380.1:c.-40-5870_-40-5867del	XM_047436380.1:c.-40-5869_-40-5867del	XM_047436380.1:c.-40-5868_-40-5867del	XM_047436380.1:c.-40-5867del	XM_047436380.1:c.-40-5867dup	XM_047436380.1:c.-40-5868_-40-5867dup	XM_047436380.1:c.-40-5869_-40-5867dup	XM_047436380.1:c.-40-5870_-40-5867dup	XM_047436380.1:c.-40-5881_-40-5867dup
FAM222B transcript variant X11	XM_047436381.1:c.-40-5867=	XM_047436381.1:c.-40-5873_-40-5867del	XM_047436381.1:c.-40-5871_-40-5867del	XM_047436381.1:c.-40-5870_-40-5867del	XM_047436381.1:c.-40-5869_-40-5867del	XM_047436381.1:c.-40-5868_-40-5867del	XM_047436381.1:c.-40-5867del	XM_047436381.1:c.-40-5867dup	XM_047436381.1:c.-40-5868_-40-5867dup	XM_047436381.1:c.-40-5869_-40-5867dup	XM_047436381.1:c.-40-5870_-40-5867dup	XM_047436381.1:c.-40-5881_-40-5867dup
FAM222B transcript variant X12	XM_047436382.1:c.-40-5867=	XM_047436382.1:c.-40-5873_-40-5867del	XM_047436382.1:c.-40-5871_-40-5867del	XM_047436382.1:c.-40-5870_-40-5867del	XM_047436382.1:c.-40-5869_-40-5867del	XM_047436382.1:c.-40-5868_-40-5867del	XM_047436382.1:c.-40-5867del	XM_047436382.1:c.-40-5867dup	XM_047436382.1:c.-40-5868_-40-5867dup	XM_047436382.1:c.-40-5869_-40-5867dup	XM_047436382.1:c.-40-5870_-40-5867dup	XM_047436382.1:c.-40-5881_-40-5867dup
FAM222B transcript variant X13	XM_047436383.1:c.-40-5867=	XM_047436383.1:c.-40-5873_-40-5867del	XM_047436383.1:c.-40-5871_-40-5867del	XM_047436383.1:c.-40-5870_-40-5867del	XM_047436383.1:c.-40-5869_-40-5867del	XM_047436383.1:c.-40-5868_-40-5867del	XM_047436383.1:c.-40-5867del	XM_047436383.1:c.-40-5867dup	XM_047436383.1:c.-40-5868_-40-5867dup	XM_047436383.1:c.-40-5869_-40-5867dup	XM_047436383.1:c.-40-5870_-40-5867dup	XM_047436383.1:c.-40-5881_-40-5867dup
FAM222B transcript variant X14	XM_047436384.1:c.-41+4474=	XM_047436384.1:c.-41+4468_-41+4474del	XM_047436384.1:c.-41+4470_-41+4474del	XM_047436384.1:c.-41+4471_-41+4474del	XM_047436384.1:c.-41+4472_-41+4474del	XM_047436384.1:c.-41+4473_-41+4474del	XM_047436384.1:c.-41+4474del	XM_047436384.1:c.-41+4474dup	XM_047436384.1:c.-41+4473_-41+4474dup	XM_047436384.1:c.-41+4472_-41+4474dup	XM_047436384.1:c.-41+4471_-41+4474dup	XM_047436384.1:c.-41+4460_-41+4474dup
FAM222B transcript variant X15	XM_047436385.1:c.-40-5867=	XM_047436385.1:c.-40-5873_-40-5867del	XM_047436385.1:c.-40-5871_-40-5867del	XM_047436385.1:c.-40-5870_-40-5867del	XM_047436385.1:c.-40-5869_-40-5867del	XM_047436385.1:c.-40-5868_-40-5867del	XM_047436385.1:c.-40-5867del	XM_047436385.1:c.-40-5867dup	XM_047436385.1:c.-40-5868_-40-5867dup	XM_047436385.1:c.-40-5869_-40-5867dup	XM_047436385.1:c.-40-5870_-40-5867dup	XM_047436385.1:c.-40-5881_-40-5867dup
FAM222B transcript variant X16	XM_047436386.1:c.-40-5867=	XM_047436386.1:c.-40-5873_-40-5867del	XM_047436386.1:c.-40-5871_-40-5867del	XM_047436386.1:c.-40-5870_-40-5867del	XM_047436386.1:c.-40-5869_-40-5867del	XM_047436386.1:c.-40-5868_-40-5867del	XM_047436386.1:c.-40-5867del	XM_047436386.1:c.-40-5867dup	XM_047436386.1:c.-40-5868_-40-5867dup	XM_047436386.1:c.-40-5869_-40-5867dup	XM_047436386.1:c.-40-5870_-40-5867dup	XM_047436386.1:c.-40-5881_-40-5867dup

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#.

36 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss40837639	Dec 03, 2013 (138)
2	HUMANGENOME_JCVI	ss96566345	Dec 05, 2013 (138)
3	BUSHMAN	ss193444113	Jul 04, 2010 (132)
4	1000GENOMES	ss1376521329	Aug 21, 2014 (142)
5	SWEGEN	ss3015382338	Nov 08, 2017 (151)
6	EVA_DECODE	ss3700285853	Jul 13, 2019 (153)
7	EVA_DECODE	ss3700285854	Jul 13, 2019 (153)
8	EVA_DECODE	ss3700285855	Jul 13, 2019 (153)
9	EVA_DECODE	ss3700285856	Jul 13, 2019 (153)
10	EVA_DECODE	ss3700285857	Jul 13, 2019 (153)
11	PACBIO	ss3788178555	Jul 13, 2019 (153)
12	KHV_HUMAN_GENOMES	ss3819839836	Jul 13, 2019 (153)
13	EVA	ss3834824787	Apr 27, 2020 (154)
14	GNOMAD	ss4309915545	Apr 26, 2021 (155)
15	GNOMAD	ss4309915546	Apr 26, 2021 (155)
16	GNOMAD	ss4309915547	Apr 26, 2021 (155)
17	GNOMAD	ss4309915548	Apr 26, 2021 (155)
18	GNOMAD	ss4309915549	Apr 26, 2021 (155)
19	GNOMAD	ss4309915550	Apr 26, 2021 (155)
20	GNOMAD	ss4309915551	Apr 26, 2021 (155)
21	GNOMAD	ss4309915552	Apr 26, 2021 (155)
22	GNOMAD	ss4309915553	Apr 26, 2021 (155)
23	GNOMAD	ss4309915554	Apr 26, 2021 (155)
24	TOMMO_GENOMICS	ss5221971061	Apr 26, 2021 (155)
25	TOMMO_GENOMICS	ss5221971062	Apr 26, 2021 (155)
26	TOMMO_GENOMICS	ss5221971063	Apr 26, 2021 (155)
27	1000G_HIGH_COVERAGE	ss5302804529	Oct 17, 2022 (156)
28	1000G_HIGH_COVERAGE	ss5302804530	Oct 17, 2022 (156)
29	1000G_HIGH_COVERAGE	ss5302804531	Oct 17, 2022 (156)
30	1000G_HIGH_COVERAGE	ss5302804532	Oct 17, 2022 (156)
31	HUGCELL_USP	ss5495905941	Oct 17, 2022 (156)
32	HUGCELL_USP	ss5495905942	Oct 17, 2022 (156)
33	HUGCELL_USP	ss5495905943	Oct 17, 2022 (156)
34	TOMMO_GENOMICS	ss5778036989	Oct 17, 2022 (156)
35	TOMMO_GENOMICS	ss5778036990	Oct 17, 2022 (156)
36	TOMMO_GENOMICS	ss5778036991	Oct 17, 2022 (156)
37	1000Genomes	NC_000017.10 - 27099592	Oct 12, 2018 (152)
38	gnomAD - Genomes Submission ignored due to conflicting rows: Row 504512908 (NC_000017.11:28772573::A 19286/84852) Row 504512909 (NC_000017.11:28772573::AA 2403/84936) Row 504512910 (NC_000017.11:28772573::AAA 9/84990)...	-	Apr 26, 2021 (155)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 504512908 (NC_000017.11:28772573::A 19286/84852) Row 504512909 (NC_000017.11:28772573::AA 2403/84936) Row 504512910 (NC_000017.11:28772573::AAA 9/84990)...	-	Apr 26, 2021 (155)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 504512908 (NC_000017.11:28772573::A 19286/84852) Row 504512909 (NC_000017.11:28772573::AA 2403/84936) Row 504512910 (NC_000017.11:28772573::AAA 9/84990)...	-	Apr 26, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 504512908 (NC_000017.11:28772573::A 19286/84852) Row 504512909 (NC_000017.11:28772573::AA 2403/84936) Row 504512910 (NC_000017.11:28772573::AAA 9/84990)...	-	Apr 26, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 504512908 (NC_000017.11:28772573::A 19286/84852) Row 504512909 (NC_000017.11:28772573::AA 2403/84936) Row 504512910 (NC_000017.11:28772573::AAA 9/84990)...	-	Apr 26, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 504512908 (NC_000017.11:28772573::A 19286/84852) Row 504512909 (NC_000017.11:28772573::AA 2403/84936) Row 504512910 (NC_000017.11:28772573::AAA 9/84990)...	-	Apr 26, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 504512908 (NC_000017.11:28772573::A 19286/84852) Row 504512909 (NC_000017.11:28772573::AA 2403/84936) Row 504512910 (NC_000017.11:28772573::AAA 9/84990)...	-	Apr 26, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 504512908 (NC_000017.11:28772573::A 19286/84852) Row 504512909 (NC_000017.11:28772573::AA 2403/84936) Row 504512910 (NC_000017.11:28772573::AAA 9/84990)...	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 504512908 (NC_000017.11:28772573::A 19286/84852) Row 504512909 (NC_000017.11:28772573::AA 2403/84936) Row 504512910 (NC_000017.11:28772573::AAA 9/84990)...	-	Apr 26, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 504512908 (NC_000017.11:28772573::A 19286/84852) Row 504512909 (NC_000017.11:28772573::AA 2403/84936) Row 504512910 (NC_000017.11:28772573::AAA 9/84990)...	-	Apr 26, 2021 (155)
48	8.3KJPN Submission ignored due to conflicting rows: Row 79940368 (NC_000017.10:27099591::A 4744/16056) Row 79940369 (NC_000017.10:27099591:A: 472/16056) Row 79940370 (NC_000017.10:27099591::AA 33/16056)	-	Apr 26, 2021 (155)
49	8.3KJPN Submission ignored due to conflicting rows: Row 79940368 (NC_000017.10:27099591::A 4744/16056) Row 79940369 (NC_000017.10:27099591:A: 472/16056) Row 79940370 (NC_000017.10:27099591::AA 33/16056)	-	Apr 26, 2021 (155)
50	8.3KJPN Submission ignored due to conflicting rows: Row 79940368 (NC_000017.10:27099591::A 4744/16056) Row 79940369 (NC_000017.10:27099591:A: 472/16056) Row 79940370 (NC_000017.10:27099591::AA 33/16056)	-	Apr 26, 2021 (155)
51	14KJPN Submission ignored due to conflicting rows: Row 111874093 (NC_000017.11:28772573::A 7871/27418) Row 111874094 (NC_000017.11:28772573:A: 755/27418) Row 111874095 (NC_000017.11:28772573::AA 40/27418)	-	Oct 17, 2022 (156)
52	14KJPN Submission ignored due to conflicting rows: Row 111874093 (NC_000017.11:28772573::A 7871/27418) Row 111874094 (NC_000017.11:28772573:A: 755/27418) Row 111874095 (NC_000017.11:28772573::AA 40/27418)	-	Oct 17, 2022 (156)
53	14KJPN Submission ignored due to conflicting rows: Row 111874093 (NC_000017.11:28772573::A 7871/27418) Row 111874094 (NC_000017.11:28772573:A: 755/27418) Row 111874095 (NC_000017.11:28772573::AA 40/27418)	-	Oct 17, 2022 (156)
54	ALFA	NC_000017.11 - 28772574	Apr 26, 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
7487305246	NC_000017.11:28772573:AAAAAAAAAAAA… NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAA	NC_000017.11:28772573:AAAAAAAAAAAA… NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
ss4309915554, ss5302804532	NC_000017.11:28772573:AAAAA:	NC_000017.11:28772573:AAAAAAAAAAAA… NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
7487305246	NC_000017.11:28772573:AAAAAAAAAAAA… NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000017.11:28772573:AAAAAAAAAAAA… NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss4309915553	NC_000017.11:28772573:AAAA:	NC_000017.11:28772573:AAAAAAAAAAAA… NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
7487305246	NC_000017.11:28772573:AAAAAAAAAAAA… NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000017.11:28772573:AAAAAAAAAAAA… NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4309915552	NC_000017.11:28772573:AAA:	NC_000017.11:28772573:AAAAAAAAAAAA… NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
7487305246	NC_000017.11:28772573:AAAAAAAAAAAA… NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000017.11:28772573:AAAAAAAAAAAA… NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3700285857, ss4309915551	NC_000017.11:28772573:AA:	NC_000017.11:28772573:AAAAAAAAAAAA… NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
7487305246	NC_000017.11:28772573:AAAAAAAAAAAA… NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000017.11:28772573:AAAAAAAAAAAA… NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
71518067, ss1376521329, ss3015382338, ss3788178555, ss3834824787, ss5221971062	NC_000017.10:27099591:A:	NC_000017.11:28772573:AAAAAAAAAAAA… NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3819839836, ss4309915550, ss5302804529, ss5495905941, ss5778036990	NC_000017.11:28772573:A:	NC_000017.11:28772573:AAAAAAAAAAAA… NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
7487305246	NC_000017.11:28772573:AAAAAAAAAAAA… NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000017.11:28772573:AAAAAAAAAAAA… NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3700285856	NC_000017.11:28772574:A:	NC_000017.11:28772573:AAAAAAAAAAAA… NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss193444113	NT_010783.16:1836593:A:	NC_000017.11:28772573:AAAAAAAAAAAA… NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss5221971061	NC_000017.10:27099591::A	NC_000017.11:28772573:AAAAAAAAAAAA… NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4309915545, ss5302804530, ss5495905942, ss5778036989	NC_000017.11:28772573::A	NC_000017.11:28772573:AAAAAAAAAAAA… NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
7487305246	NC_000017.11:28772573:AAAAAAAAAAAA… NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000017.11:28772573:AAAAAAAAAAAA… NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3700285855	NC_000017.11:28772575::A	NC_000017.11:28772573:AAAAAAAAAAAA… NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss40837639, ss96566345	NT_010799.15:1836601::A	NC_000017.11:28772573:AAAAAAAAAAAA… NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss5221971063	NC_000017.10:27099591::AA	NC_000017.11:28772573:AAAAAAAAAAAA… NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4309915546, ss5302804531, ss5495905943, ss5778036991	NC_000017.11:28772573::AA	NC_000017.11:28772573:AAAAAAAAAAAA… NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
7487305246	NC_000017.11:28772573:AAAAAAAAAAAA… NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000017.11:28772573:AAAAAAAAAAAA… NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3700285854	NC_000017.11:28772575::AA	NC_000017.11:28772573:AAAAAAAAAAAA… NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4309915547	NC_000017.11:28772573::AAA	NC_000017.11:28772573:AAAAAAAAAAAA… NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
7487305246	NC_000017.11:28772573:AAAAAAAAAAAA… NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000017.11:28772573:AAAAAAAAAAAA… NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3700285853	NC_000017.11:28772575::AAA	NC_000017.11:28772573:AAAAAAAAAAAA… NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4309915548	NC_000017.11:28772573::AAAA	NC_000017.11:28772573:AAAAAAAAAAAA… NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
7487305246	NC_000017.11:28772573:AAAAAAAAAAAA… NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000017.11:28772573:AAAAAAAAAAAA… NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4309915549	NC_000017.11:28772573::AAAAAAAAAAA… NC_000017.11:28772573::AAAAAAAAAAAAAAA	NC_000017.11:28772573:AAAAAAAAAAAA… NC_000017.11:28772573:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

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

No publications for rs111471814

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

rs111471814