Name: rs111818272
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.

rs111818272

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr9:89484989-89485011 (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(GT)₇ / del(GT)₄ / del(GT)₃ / d…
del(GT)₇ / del(GT)₄ / del(GT)₃ / delGTGT / delGT / dupGT / dupGTGT / dup(GT)₃ / dup(GT)₄ / dup(GT)₅
Variation Type: Indel Insertion and Deletion
Frequency: dupGT=0.2095 (1525/7280, ALFA)
delGTGT=0.1343 (544/4050, 1000G)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SEMA4D : 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	7280	TGTGTGTGTGTGTGTGTGTGTGT=0.6328	TGTGTGTGT=0.0000, TGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGT=0.1243, TGTGTGTGTGTGTGTGTGTGTGTGT=0.2095, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0334, TGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000	0.666036	0.094282	0.239682	32
European	Sub	5456	TGTGTGTGTGTGTGTGTGTGTGT=0.5104	TGTGTGTGT=0.0000, TGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGT=0.1657, TGTGTGTGTGTGTGTGTGTGTGTGT=0.2793, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0445, TGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000	0.490751	0.143931	0.365318	27
African	Sub	1260	TGTGTGTGTGTGTGTGTGTGTGT=1.0000	TGTGTGTGT=0.0000, TGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	62	TGTGTGTGTGTGTGTGTGTGTGT=1.00	TGTGTGTGT=0.00, TGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00	1.0	0.0	0.0	N/A
African American	Sub	1198	TGTGTGTGTGTGTGTGTGTGTGT=1.0000	TGTGTGTGT=0.0000, TGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	94	TGTGTGTGTGTGTGTGTGTGTGT=1.00	TGTGTGTGT=0.00, TGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	76	TGTGTGTGTGTGTGTGTGTGTGT=1.00	TGTGTGTGT=0.00, TGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	18	TGTGTGTGTGTGTGTGTGTGTGT=1.00	TGTGTGTGT=0.00, TGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	30	TGTGTGTGTGTGTGTGTGTGTGT=1.00	TGTGTGTGT=0.00, TGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	256	TGTGTGTGTGTGTGTGTGTGTGT=1.000	TGTGTGTGT=0.000, TGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	26	TGTGTGTGTGTGTGTGTGTGTGT=1.00	TGTGTGTGT=0.00, TGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00	1.0	0.0	0.0	N/A
Other	Sub	158	TGTGTGTGTGTGTGTGTGTGTGT=0.987	TGTGTGTGT=0.000, TGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGT=0.006, TGTGTGTGTGTGTGTGTGTGTGTGT=0.006, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000	0.987179	0.0	0.012821	0

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	7280	(TG)₁₁T=0.6328	del(GT)₇=0.0000, del(GT)₄=0.0000, del(GT)₃=0.0000, delGTGT=0.1243, delGT=0.0000, dupGT=0.2095, dupGTGT=0.0334, dup(GT)₃=0.0000, dup(GT)₄=0.0000
Allele Frequency Aggregator	European	Sub	5456	(TG)₁₁T=0.5104	del(GT)₇=0.0000, del(GT)₄=0.0000, del(GT)₃=0.0000, delGTGT=0.1657, delGT=0.0000, dupGT=0.2793, dupGTGT=0.0445, dup(GT)₃=0.0000, dup(GT)₄=0.0000
Allele Frequency Aggregator	African	Sub	1260	(TG)₁₁T=1.0000	del(GT)₇=0.0000, del(GT)₄=0.0000, del(GT)₃=0.0000, delGTGT=0.0000, delGT=0.0000, dupGT=0.0000, dupGTGT=0.0000, dup(GT)₃=0.0000, dup(GT)₄=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	256	(TG)₁₁T=1.000	del(GT)₇=0.000, del(GT)₄=0.000, del(GT)₃=0.000, delGTGT=0.000, delGT=0.000, dupGT=0.000, dupGTGT=0.000, dup(GT)₃=0.000, dup(GT)₄=0.000
Allele Frequency Aggregator	Other	Sub	158	(TG)₁₁T=0.987	del(GT)₇=0.000, del(GT)₄=0.000, del(GT)₃=0.000, delGTGT=0.006, delGT=0.000, dupGT=0.006, dupGTGT=0.000, dup(GT)₃=0.000, dup(GT)₄=0.000
Allele Frequency Aggregator	Asian	Sub	94	(TG)₁₁T=1.00	del(GT)₇=0.00, del(GT)₄=0.00, del(GT)₃=0.00, delGTGT=0.00, delGT=0.00, dupGT=0.00, dupGTGT=0.00, dup(GT)₃=0.00, dup(GT)₄=0.00
Allele Frequency Aggregator	Latin American 1	Sub	30	(TG)₁₁T=1.00	del(GT)₇=0.00, del(GT)₄=0.00, del(GT)₃=0.00, delGTGT=0.00, delGT=0.00, dupGT=0.00, dupGTGT=0.00, dup(GT)₃=0.00, dup(GT)₄=0.00
Allele Frequency Aggregator	South Asian	Sub	26	(TG)₁₁T=1.00	del(GT)₇=0.00, del(GT)₄=0.00, del(GT)₃=0.00, delGTGT=0.00, delGT=0.00, dupGT=0.00, dupGTGT=0.00, dup(GT)₃=0.00, dup(GT)₄=0.00
1000Genomes	Global	Study-wide	4050	(TG)₁₁T=0.8657	delGTGT=0.1343
1000Genomes	African	Sub	1181	(TG)₁₁T=0.8645	delGTGT=0.1355
1000Genomes	East Asian	Sub	956	(TG)₁₁T=0.999	delGTGT=0.001
1000Genomes	South Asian	Sub	705	(TG)₁₁T=0.912	delGTGT=0.088
1000Genomes	Europe	Sub	682	(TG)₁₁T=0.661	delGTGT=0.339
1000Genomes	American	Sub	526	(TG)₁₁T=0.829	delGTGT=0.171

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.89484990GT[4]
GRCh38.p14 chr 9	NC_000009.12:g.89484990GT[7]
GRCh38.p14 chr 9	NC_000009.12:g.89484990GT[8]
GRCh38.p14 chr 9	NC_000009.12:g.89484990GT[9]
GRCh38.p14 chr 9	NC_000009.12:g.89484990GT[10]
GRCh38.p14 chr 9	NC_000009.12:g.89484990GT[12]
GRCh38.p14 chr 9	NC_000009.12:g.89484990GT[13]
GRCh38.p14 chr 9	NC_000009.12:g.89484990GT[14]
GRCh38.p14 chr 9	NC_000009.12:g.89484990GT[15]
GRCh38.p14 chr 9	NC_000009.12:g.89484990GT[16]
GRCh37.p13 chr 9	NC_000009.11:g.92099905GT[4]
GRCh37.p13 chr 9	NC_000009.11:g.92099905GT[7]
GRCh37.p13 chr 9	NC_000009.11:g.92099905GT[8]
GRCh37.p13 chr 9	NC_000009.11:g.92099905GT[9]
GRCh37.p13 chr 9	NC_000009.11:g.92099905GT[10]
GRCh37.p13 chr 9	NC_000009.11:g.92099905GT[12]
GRCh37.p13 chr 9	NC_000009.11:g.92099905GT[13]
GRCh37.p13 chr 9	NC_000009.11:g.92099905GT[14]
GRCh37.p13 chr 9	NC_000009.11:g.92099905GT[15]
GRCh37.p13 chr 9	NC_000009.11:g.92099905GT[16]

Gene: SEMA4D, semaphorin 4D (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SEMA4D transcript variant 3	NM_001371194.2:c.-310+129… NM_001371194.2:c.-310+12909CA[4]	N/A	Intron Variant
SEMA4D transcript variant 4	NM_001371195.1:c.-373+105… NM_001371195.1:c.-373+10557CA[4]	N/A	Intron Variant
SEMA4D transcript variant 7	NM_001371198.1:c.-310+105… NM_001371198.1:c.-310+10557CA[4]	N/A	Intron Variant
SEMA4D transcript variant 2	NM_001142287.2:c.	N/A	Genic Upstream Transcript Variant
SEMA4D transcript variant 5	NM_001371196.1:c.	N/A	Genic Upstream Transcript Variant
SEMA4D transcript variant 6	NM_001371197.1:c.	N/A	Genic Upstream Transcript Variant
SEMA4D transcript variant 8	NM_001371199.1:c.	N/A	Genic Upstream Transcript Variant
SEMA4D transcript variant 9	NM_001371200.1:c.	N/A	Genic Upstream Transcript Variant
SEMA4D transcript variant 10	NM_001371201.1:c.	N/A	Genic Upstream Transcript Variant
SEMA4D transcript variant 11	NM_001371202.1:c.	N/A	Genic Upstream Transcript Variant
SEMA4D transcript variant 1	NM_006378.4:c.	N/A	Genic Upstream Transcript Variant
SEMA4D transcript variant 12	NR_163884.1:n.	N/A	Genic Upstream Transcript Variant
SEMA4D transcript variant 13	NR_163885.1:n.	N/A	Genic Upstream Transcript Variant
SEMA4D transcript variant 14	NR_163886.1:n.	N/A	Genic Upstream Transcript Variant
SEMA4D transcript variant 15	NR_163887.1:n.	N/A	Genic Upstream Transcript Variant
SEMA4D transcript variant 16	NR_163888.1:n.	N/A	Genic Upstream Transcript Variant
SEMA4D transcript variant 17	NR_163889.1:n.	N/A	Genic Upstream Transcript Variant
SEMA4D transcript variant X4	XM_011518123.3:c.-598-946… XM_011518123.3:c.-598-9460CA[4]	N/A	Intron Variant
SEMA4D transcript variant X9	XM_011518125.2:c.-448+129… XM_011518125.2:c.-448+12909CA[4]	N/A	Intron Variant
SEMA4D transcript variant X6	XM_011518127.3:c.-513-946… XM_011518127.3:c.-513-9460CA[4]	N/A	Intron Variant
SEMA4D transcript variant X14	XM_011518128.3:c.-438-946… XM_011518128.3:c.-438-9460CA[4]	N/A	Intron Variant
SEMA4D transcript variant X22	XM_011518129.2:c.-373+123… XM_011518129.2:c.-373+12365CA[4]	N/A	Intron Variant
SEMA4D transcript variant X3	XM_011518133.3:c.-375-946… XM_011518133.3:c.-375-9460CA[4]	N/A	Intron Variant
SEMA4D transcript variant X1	XM_047422606.1:c.-523-946… XM_047422606.1:c.-523-9460CA[4]	N/A	Intron Variant
SEMA4D transcript variant X2	XM_047422607.1:c.-373+129… XM_047422607.1:c.-373+12909CA[4]	N/A	Intron Variant
SEMA4D transcript variant X12	XM_047422614.1:c.-460-946… XM_047422614.1:c.-460-9460CA[4]	N/A	Intron Variant
SEMA4D transcript variant X23	XM_047422619.1:c.-310+123… XM_047422619.1:c.-310+12365CA[4]	N/A	Intron Variant
SEMA4D transcript variant X24	XM_047422620.1:c.-598-946… XM_047422620.1:c.-598-9460CA[4]	N/A	Intron Variant
SEMA4D transcript variant X28	XM_047422624.1:c.-460-946… XM_047422624.1:c.-460-9460CA[4]	N/A	Intron Variant
SEMA4D transcript variant X31	XM_047422627.1:c.-310+129… XM_047422627.1:c.-310+12909CA[4]	N/A	Intron Variant
SEMA4D transcript variant X33	XM_047422629.1:c.-598-946… XM_047422629.1:c.-598-9460CA[4]	N/A	Intron Variant
SEMA4D transcript variant X34	XM_047422630.1:c.-598-946… XM_047422630.1:c.-598-9460CA[4]	N/A	Intron Variant
SEMA4D transcript variant X37	XM_047422631.1:c.-373+129… XM_047422631.1:c.-373+12909CA[4]	N/A	Intron Variant
SEMA4D transcript variant X36	XM_047422632.1:c.-310+129… XM_047422632.1:c.-310+12909CA[4]	N/A	Intron Variant
SEMA4D transcript variant X8	XM_011518124.3:c.	N/A	Genic Upstream Transcript Variant
SEMA4D transcript variant X11	XM_011518130.3:c.	N/A	Genic Upstream Transcript Variant
SEMA4D transcript variant X16	XM_011518131.3:c.	N/A	Genic Upstream Transcript Variant
SEMA4D transcript variant X5	XM_011518134.3:c.	N/A	Genic Upstream Transcript Variant
SEMA4D transcript variant X7	XM_017014193.3:c.	N/A	Genic Upstream Transcript Variant
SEMA4D transcript variant X13	XM_017014194.2:c.	N/A	Genic Upstream Transcript Variant
SEMA4D transcript variant X21	XM_017014195.2:c.	N/A	Genic Upstream Transcript Variant
SEMA4D transcript variant X19	XM_017014198.2:c.	N/A	Genic Upstream Transcript Variant
SEMA4D transcript variant X10	XM_047422609.1:c.	N/A	Genic Upstream Transcript Variant
SEMA4D transcript variant X39	XM_047422610.1:c.	N/A	Genic Upstream Transcript Variant
SEMA4D transcript variant X17	XM_047422611.1:c.	N/A	Genic Upstream Transcript Variant
SEMA4D transcript variant X40	XM_047422612.1:c.	N/A	Genic Upstream Transcript Variant
SEMA4D transcript variant X41	XM_047422613.1:c.	N/A	Genic Upstream Transcript Variant
SEMA4D transcript variant X20	XM_047422615.1:c.	N/A	Genic Upstream Transcript Variant
SEMA4D transcript variant X15	XM_047422617.1:c.	N/A	Genic Upstream Transcript Variant
SEMA4D transcript variant X18	XM_047422618.1:c.	N/A	Genic Upstream Transcript Variant
SEMA4D transcript variant X25	XM_047422621.1:c.	N/A	Genic Upstream Transcript Variant
SEMA4D transcript variant X26	XM_047422622.1:c.	N/A	Genic Upstream Transcript Variant
SEMA4D transcript variant X27	XM_047422623.1:c.	N/A	Genic Upstream Transcript Variant
SEMA4D transcript variant X29	XM_047422625.1:c.	N/A	Genic Upstream Transcript Variant
SEMA4D transcript variant X30	XM_047422626.1:c.	N/A	Genic Upstream Transcript Variant
SEMA4D transcript variant X32	XM_047422628.1:c.	N/A	Genic Upstream Transcript Variant
SEMA4D transcript variant X35	XM_047422633.1:c.	N/A	Genic Upstream Transcript Variant
SEMA4D transcript variant X38	XM_047422634.1:c.	N/A	Genic Upstream Transcript 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	(TG)₁₁T=	del(GT)₇	del(GT)₄	del(GT)₃	delGTGT	delGT	dupGT	dupGTGT	dup(GT)₃	dup(GT)₄	dup(GT)₅
GRCh38.p14 chr 9	NC_000009.12:g.89484989_89485011=	NC_000009.12:g.89484990GT[4]	NC_000009.12:g.89484990GT[7]	NC_000009.12:g.89484990GT[8]	NC_000009.12:g.89484990GT[9]	NC_000009.12:g.89484990GT[10]	NC_000009.12:g.89484990GT[12]	NC_000009.12:g.89484990GT[13]	NC_000009.12:g.89484990GT[14]	NC_000009.12:g.89484990GT[15]	NC_000009.12:g.89484990GT[16]
GRCh37.p13 chr 9	NC_000009.11:g.92099904_92099926=	NC_000009.11:g.92099905GT[4]	NC_000009.11:g.92099905GT[7]	NC_000009.11:g.92099905GT[8]	NC_000009.11:g.92099905GT[9]	NC_000009.11:g.92099905GT[10]	NC_000009.11:g.92099905GT[12]	NC_000009.11:g.92099905GT[13]	NC_000009.11:g.92099905GT[14]	NC_000009.11:g.92099905GT[15]	NC_000009.11:g.92099905GT[16]
SEMA4D transcript variant 3	NM_001371194.2:c.-310+12930=	NM_001371194.2:c.-310+12909CA[4]	NM_001371194.2:c.-310+12909CA[7]	NM_001371194.2:c.-310+12909CA[8]	NM_001371194.2:c.-310+12909CA[9]	NM_001371194.2:c.-310+12909CA[10]	NM_001371194.2:c.-310+12909CA[12]	NM_001371194.2:c.-310+12909CA[13]	NM_001371194.2:c.-310+12909CA[14]	NM_001371194.2:c.-310+12909CA[15]	NM_001371194.2:c.-310+12909CA[16]
SEMA4D transcript variant 4	NM_001371195.1:c.-373+10578=	NM_001371195.1:c.-373+10557CA[4]	NM_001371195.1:c.-373+10557CA[7]	NM_001371195.1:c.-373+10557CA[8]	NM_001371195.1:c.-373+10557CA[9]	NM_001371195.1:c.-373+10557CA[10]	NM_001371195.1:c.-373+10557CA[12]	NM_001371195.1:c.-373+10557CA[13]	NM_001371195.1:c.-373+10557CA[14]	NM_001371195.1:c.-373+10557CA[15]	NM_001371195.1:c.-373+10557CA[16]
SEMA4D transcript variant 7	NM_001371198.1:c.-310+10578=	NM_001371198.1:c.-310+10557CA[4]	NM_001371198.1:c.-310+10557CA[7]	NM_001371198.1:c.-310+10557CA[8]	NM_001371198.1:c.-310+10557CA[9]	NM_001371198.1:c.-310+10557CA[10]	NM_001371198.1:c.-310+10557CA[12]	NM_001371198.1:c.-310+10557CA[13]	NM_001371198.1:c.-310+10557CA[14]	NM_001371198.1:c.-310+10557CA[15]	NM_001371198.1:c.-310+10557CA[16]
SEMA4D transcript variant X1	XM_005251647.1:c.-523-9439=	XM_005251647.1:c.-523-9460CA[4]	XM_005251647.1:c.-523-9460CA[7]	XM_005251647.1:c.-523-9460CA[8]	XM_005251647.1:c.-523-9460CA[9]	XM_005251647.1:c.-523-9460CA[10]	XM_005251647.1:c.-523-9460CA[12]	XM_005251647.1:c.-523-9460CA[13]	XM_005251647.1:c.-523-9460CA[14]	XM_005251647.1:c.-523-9460CA[15]	XM_005251647.1:c.-523-9460CA[16]
SEMA4D transcript variant X2	XM_005251648.1:c.-373+12930=	XM_005251648.1:c.-373+12909CA[4]	XM_005251648.1:c.-373+12909CA[7]	XM_005251648.1:c.-373+12909CA[8]	XM_005251648.1:c.-373+12909CA[9]	XM_005251648.1:c.-373+12909CA[10]	XM_005251648.1:c.-373+12909CA[12]	XM_005251648.1:c.-373+12909CA[13]	XM_005251648.1:c.-373+12909CA[14]	XM_005251648.1:c.-373+12909CA[15]	XM_005251648.1:c.-373+12909CA[16]
SEMA4D transcript variant X3	XM_005251649.1:c.-438-9439=	XM_005251649.1:c.-438-9460CA[4]	XM_005251649.1:c.-438-9460CA[7]	XM_005251649.1:c.-438-9460CA[8]	XM_005251649.1:c.-438-9460CA[9]	XM_005251649.1:c.-438-9460CA[10]	XM_005251649.1:c.-438-9460CA[12]	XM_005251649.1:c.-438-9460CA[13]	XM_005251649.1:c.-438-9460CA[14]	XM_005251649.1:c.-438-9460CA[15]	XM_005251649.1:c.-438-9460CA[16]
SEMA4D transcript variant X4	XM_005251650.1:c.-373+10578=	XM_005251650.1:c.-373+10557CA[4]	XM_005251650.1:c.-373+10557CA[7]	XM_005251650.1:c.-373+10557CA[8]	XM_005251650.1:c.-373+10557CA[9]	XM_005251650.1:c.-373+10557CA[10]	XM_005251650.1:c.-373+10557CA[12]	XM_005251650.1:c.-373+10557CA[13]	XM_005251650.1:c.-373+10557CA[14]	XM_005251650.1:c.-373+10557CA[15]	XM_005251650.1:c.-373+10557CA[16]
SEMA4D transcript variant X5	XM_005251651.1:c.-598-9439=	XM_005251651.1:c.-598-9460CA[4]	XM_005251651.1:c.-598-9460CA[7]	XM_005251651.1:c.-598-9460CA[8]	XM_005251651.1:c.-598-9460CA[9]	XM_005251651.1:c.-598-9460CA[10]	XM_005251651.1:c.-598-9460CA[12]	XM_005251651.1:c.-598-9460CA[13]	XM_005251651.1:c.-598-9460CA[14]	XM_005251651.1:c.-598-9460CA[15]	XM_005251651.1:c.-598-9460CA[16]
SEMA4D transcript variant X7	XM_005251653.1:c.-460-9439=	XM_005251653.1:c.-460-9460CA[4]	XM_005251653.1:c.-460-9460CA[7]	XM_005251653.1:c.-460-9460CA[8]	XM_005251653.1:c.-460-9460CA[9]	XM_005251653.1:c.-460-9460CA[10]	XM_005251653.1:c.-460-9460CA[12]	XM_005251653.1:c.-460-9460CA[13]	XM_005251653.1:c.-460-9460CA[14]	XM_005251653.1:c.-460-9460CA[15]	XM_005251653.1:c.-460-9460CA[16]
SEMA4D transcript variant X8	XM_005251654.1:c.-310+12930=	XM_005251654.1:c.-310+12909CA[4]	XM_005251654.1:c.-310+12909CA[7]	XM_005251654.1:c.-310+12909CA[8]	XM_005251654.1:c.-310+12909CA[9]	XM_005251654.1:c.-310+12909CA[10]	XM_005251654.1:c.-310+12909CA[12]	XM_005251654.1:c.-310+12909CA[13]	XM_005251654.1:c.-310+12909CA[14]	XM_005251654.1:c.-310+12909CA[15]	XM_005251654.1:c.-310+12909CA[16]
SEMA4D transcript variant X4	XM_011518123.3:c.-598-9439=	XM_011518123.3:c.-598-9460CA[4]	XM_011518123.3:c.-598-9460CA[7]	XM_011518123.3:c.-598-9460CA[8]	XM_011518123.3:c.-598-9460CA[9]	XM_011518123.3:c.-598-9460CA[10]	XM_011518123.3:c.-598-9460CA[12]	XM_011518123.3:c.-598-9460CA[13]	XM_011518123.3:c.-598-9460CA[14]	XM_011518123.3:c.-598-9460CA[15]	XM_011518123.3:c.-598-9460CA[16]
SEMA4D transcript variant X9	XM_011518125.2:c.-448+12930=	XM_011518125.2:c.-448+12909CA[4]	XM_011518125.2:c.-448+12909CA[7]	XM_011518125.2:c.-448+12909CA[8]	XM_011518125.2:c.-448+12909CA[9]	XM_011518125.2:c.-448+12909CA[10]	XM_011518125.2:c.-448+12909CA[12]	XM_011518125.2:c.-448+12909CA[13]	XM_011518125.2:c.-448+12909CA[14]	XM_011518125.2:c.-448+12909CA[15]	XM_011518125.2:c.-448+12909CA[16]
SEMA4D transcript variant X6	XM_011518127.3:c.-513-9439=	XM_011518127.3:c.-513-9460CA[4]	XM_011518127.3:c.-513-9460CA[7]	XM_011518127.3:c.-513-9460CA[8]	XM_011518127.3:c.-513-9460CA[9]	XM_011518127.3:c.-513-9460CA[10]	XM_011518127.3:c.-513-9460CA[12]	XM_011518127.3:c.-513-9460CA[13]	XM_011518127.3:c.-513-9460CA[14]	XM_011518127.3:c.-513-9460CA[15]	XM_011518127.3:c.-513-9460CA[16]
SEMA4D transcript variant X14	XM_011518128.3:c.-438-9439=	XM_011518128.3:c.-438-9460CA[4]	XM_011518128.3:c.-438-9460CA[7]	XM_011518128.3:c.-438-9460CA[8]	XM_011518128.3:c.-438-9460CA[9]	XM_011518128.3:c.-438-9460CA[10]	XM_011518128.3:c.-438-9460CA[12]	XM_011518128.3:c.-438-9460CA[13]	XM_011518128.3:c.-438-9460CA[14]	XM_011518128.3:c.-438-9460CA[15]	XM_011518128.3:c.-438-9460CA[16]
SEMA4D transcript variant X22	XM_011518129.2:c.-373+12386=	XM_011518129.2:c.-373+12365CA[4]	XM_011518129.2:c.-373+12365CA[7]	XM_011518129.2:c.-373+12365CA[8]	XM_011518129.2:c.-373+12365CA[9]	XM_011518129.2:c.-373+12365CA[10]	XM_011518129.2:c.-373+12365CA[12]	XM_011518129.2:c.-373+12365CA[13]	XM_011518129.2:c.-373+12365CA[14]	XM_011518129.2:c.-373+12365CA[15]	XM_011518129.2:c.-373+12365CA[16]
SEMA4D transcript variant X3	XM_011518133.3:c.-375-9439=	XM_011518133.3:c.-375-9460CA[4]	XM_011518133.3:c.-375-9460CA[7]	XM_011518133.3:c.-375-9460CA[8]	XM_011518133.3:c.-375-9460CA[9]	XM_011518133.3:c.-375-9460CA[10]	XM_011518133.3:c.-375-9460CA[12]	XM_011518133.3:c.-375-9460CA[13]	XM_011518133.3:c.-375-9460CA[14]	XM_011518133.3:c.-375-9460CA[15]	XM_011518133.3:c.-375-9460CA[16]
SEMA4D transcript variant X1	XM_047422606.1:c.-523-9439=	XM_047422606.1:c.-523-9460CA[4]	XM_047422606.1:c.-523-9460CA[7]	XM_047422606.1:c.-523-9460CA[8]	XM_047422606.1:c.-523-9460CA[9]	XM_047422606.1:c.-523-9460CA[10]	XM_047422606.1:c.-523-9460CA[12]	XM_047422606.1:c.-523-9460CA[13]	XM_047422606.1:c.-523-9460CA[14]	XM_047422606.1:c.-523-9460CA[15]	XM_047422606.1:c.-523-9460CA[16]
SEMA4D transcript variant X2	XM_047422607.1:c.-373+12930=	XM_047422607.1:c.-373+12909CA[4]	XM_047422607.1:c.-373+12909CA[7]	XM_047422607.1:c.-373+12909CA[8]	XM_047422607.1:c.-373+12909CA[9]	XM_047422607.1:c.-373+12909CA[10]	XM_047422607.1:c.-373+12909CA[12]	XM_047422607.1:c.-373+12909CA[13]	XM_047422607.1:c.-373+12909CA[14]	XM_047422607.1:c.-373+12909CA[15]	XM_047422607.1:c.-373+12909CA[16]
SEMA4D transcript variant X12	XM_047422614.1:c.-460-9439=	XM_047422614.1:c.-460-9460CA[4]	XM_047422614.1:c.-460-9460CA[7]	XM_047422614.1:c.-460-9460CA[8]	XM_047422614.1:c.-460-9460CA[9]	XM_047422614.1:c.-460-9460CA[10]	XM_047422614.1:c.-460-9460CA[12]	XM_047422614.1:c.-460-9460CA[13]	XM_047422614.1:c.-460-9460CA[14]	XM_047422614.1:c.-460-9460CA[15]	XM_047422614.1:c.-460-9460CA[16]
SEMA4D transcript variant X23	XM_047422619.1:c.-310+12386=	XM_047422619.1:c.-310+12365CA[4]	XM_047422619.1:c.-310+12365CA[7]	XM_047422619.1:c.-310+12365CA[8]	XM_047422619.1:c.-310+12365CA[9]	XM_047422619.1:c.-310+12365CA[10]	XM_047422619.1:c.-310+12365CA[12]	XM_047422619.1:c.-310+12365CA[13]	XM_047422619.1:c.-310+12365CA[14]	XM_047422619.1:c.-310+12365CA[15]	XM_047422619.1:c.-310+12365CA[16]
SEMA4D transcript variant X24	XM_047422620.1:c.-598-9439=	XM_047422620.1:c.-598-9460CA[4]	XM_047422620.1:c.-598-9460CA[7]	XM_047422620.1:c.-598-9460CA[8]	XM_047422620.1:c.-598-9460CA[9]	XM_047422620.1:c.-598-9460CA[10]	XM_047422620.1:c.-598-9460CA[12]	XM_047422620.1:c.-598-9460CA[13]	XM_047422620.1:c.-598-9460CA[14]	XM_047422620.1:c.-598-9460CA[15]	XM_047422620.1:c.-598-9460CA[16]
SEMA4D transcript variant X28	XM_047422624.1:c.-460-9439=	XM_047422624.1:c.-460-9460CA[4]	XM_047422624.1:c.-460-9460CA[7]	XM_047422624.1:c.-460-9460CA[8]	XM_047422624.1:c.-460-9460CA[9]	XM_047422624.1:c.-460-9460CA[10]	XM_047422624.1:c.-460-9460CA[12]	XM_047422624.1:c.-460-9460CA[13]	XM_047422624.1:c.-460-9460CA[14]	XM_047422624.1:c.-460-9460CA[15]	XM_047422624.1:c.-460-9460CA[16]
SEMA4D transcript variant X31	XM_047422627.1:c.-310+12930=	XM_047422627.1:c.-310+12909CA[4]	XM_047422627.1:c.-310+12909CA[7]	XM_047422627.1:c.-310+12909CA[8]	XM_047422627.1:c.-310+12909CA[9]	XM_047422627.1:c.-310+12909CA[10]	XM_047422627.1:c.-310+12909CA[12]	XM_047422627.1:c.-310+12909CA[13]	XM_047422627.1:c.-310+12909CA[14]	XM_047422627.1:c.-310+12909CA[15]	XM_047422627.1:c.-310+12909CA[16]
SEMA4D transcript variant X33	XM_047422629.1:c.-598-9439=	XM_047422629.1:c.-598-9460CA[4]	XM_047422629.1:c.-598-9460CA[7]	XM_047422629.1:c.-598-9460CA[8]	XM_047422629.1:c.-598-9460CA[9]	XM_047422629.1:c.-598-9460CA[10]	XM_047422629.1:c.-598-9460CA[12]	XM_047422629.1:c.-598-9460CA[13]	XM_047422629.1:c.-598-9460CA[14]	XM_047422629.1:c.-598-9460CA[15]	XM_047422629.1:c.-598-9460CA[16]
SEMA4D transcript variant X34	XM_047422630.1:c.-598-9439=	XM_047422630.1:c.-598-9460CA[4]	XM_047422630.1:c.-598-9460CA[7]	XM_047422630.1:c.-598-9460CA[8]	XM_047422630.1:c.-598-9460CA[9]	XM_047422630.1:c.-598-9460CA[10]	XM_047422630.1:c.-598-9460CA[12]	XM_047422630.1:c.-598-9460CA[13]	XM_047422630.1:c.-598-9460CA[14]	XM_047422630.1:c.-598-9460CA[15]	XM_047422630.1:c.-598-9460CA[16]
SEMA4D transcript variant X37	XM_047422631.1:c.-373+12930=	XM_047422631.1:c.-373+12909CA[4]	XM_047422631.1:c.-373+12909CA[7]	XM_047422631.1:c.-373+12909CA[8]	XM_047422631.1:c.-373+12909CA[9]	XM_047422631.1:c.-373+12909CA[10]	XM_047422631.1:c.-373+12909CA[12]	XM_047422631.1:c.-373+12909CA[13]	XM_047422631.1:c.-373+12909CA[14]	XM_047422631.1:c.-373+12909CA[15]	XM_047422631.1:c.-373+12909CA[16]
SEMA4D transcript variant X36	XM_047422632.1:c.-310+12930=	XM_047422632.1:c.-310+12909CA[4]	XM_047422632.1:c.-310+12909CA[7]	XM_047422632.1:c.-310+12909CA[8]	XM_047422632.1:c.-310+12909CA[9]	XM_047422632.1:c.-310+12909CA[10]	XM_047422632.1:c.-310+12909CA[12]	XM_047422632.1:c.-310+12909CA[13]	XM_047422632.1:c.-310+12909CA[14]	XM_047422632.1:c.-310+12909CA[15]	XM_047422632.1:c.-310+12909CA[16]

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#.

69 SubSNP, 29 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BUSHMAN	ss194029485	Jul 04, 2010 (132)
2	BL	ss256119749	May 09, 2011 (134)
3	GMI	ss287847794	May 09, 2011 (134)
4	1000GENOMES	ss327161701	Jan 10, 2018 (151)
5	1000GENOMES	ss327234631	May 09, 2011 (135)
6	LUNTER	ss551956489	Apr 25, 2013 (138)
7	LUNTER	ss553382635	Jan 10, 2018 (151)
8	TISHKOFF	ss554470531	Apr 25, 2013 (138)
9	SSMP	ss663940892	Jan 10, 2018 (151)
10	BILGI_BIOE	ss666475263	Apr 25, 2013 (138)
11	1000GENOMES	ss1368430590	Aug 21, 2014 (142)
12	1000GENOMES	ss1368430593	Oct 12, 2018 (152)
13	1000GENOMES	ss1368430596	Oct 12, 2018 (152)
14	EVA_UK10K_ALSPAC	ss1706466777	Apr 01, 2015 (144)
15	EVA_UK10K_TWINSUK	ss1706466827	Apr 01, 2015 (144)
16	EVA_UK10K_TWINSUK	ss1710430777	Oct 12, 2018 (152)
17	EVA_UK10K_ALSPAC	ss1710430906	Oct 12, 2018 (152)
18	HAMMER_LAB	ss1806051322	Sep 08, 2015 (146)
19	HAMMER_LAB	ss1806051323	Sep 08, 2015 (146)
20	SWEGEN	ss3005197897	Nov 08, 2017 (151)
21	MCHAISSO	ss3066257861	Nov 08, 2017 (151)
22	URBANLAB	ss3649189283	Oct 12, 2018 (152)
23	EVA_DECODE	ss3724276174	Jul 13, 2019 (153)
24	EVA_DECODE	ss3724276175	Jul 13, 2019 (153)
25	EVA_DECODE	ss3724276176	Jul 13, 2019 (153)
26	EVA_DECODE	ss3724276177	Jul 13, 2019 (153)
27	EVA_DECODE	ss3724276178	Jul 13, 2019 (153)
28	PACBIO	ss3786459702	Jul 13, 2019 (153)
29	PACBIO	ss3791669627	Jul 13, 2019 (153)
30	PACBIO	ss3796551042	Jul 13, 2019 (153)
31	KHV_HUMAN_GENOMES	ss3812556769	Jul 13, 2019 (153)
32	KHV_HUMAN_GENOMES	ss3812556770	Jul 13, 2019 (153)
33	KHV_HUMAN_GENOMES	ss3812556771	Jul 13, 2019 (153)
34	EVA	ss3831735034	Apr 26, 2020 (154)
35	EVA	ss3839395668	Apr 26, 2020 (154)
36	EVA	ss3844858915	Apr 26, 2020 (154)
37	KOGIC	ss3966257644	Apr 26, 2020 (154)
38	KOGIC	ss3966257645	Apr 26, 2020 (154)
39	KOGIC	ss3966257646	Apr 26, 2020 (154)
40	KOGIC	ss3966257647	Apr 26, 2020 (154)
41	KOGIC	ss3966257648	Apr 26, 2020 (154)
42	GNOMAD	ss4205266335	Apr 26, 2021 (155)
43	GNOMAD	ss4205266336	Apr 26, 2021 (155)
44	GNOMAD	ss4205266337	Apr 26, 2021 (155)
45	GNOMAD	ss4205266338	Apr 26, 2021 (155)
46	GNOMAD	ss4205266339	Apr 26, 2021 (155)
47	GNOMAD	ss4205266340	Apr 26, 2021 (155)
48	GNOMAD	ss4205266341	Apr 26, 2021 (155)
49	GNOMAD	ss4205266342	Apr 26, 2021 (155)
50	TOMMO_GENOMICS	ss5194206680	Apr 26, 2021 (155)
51	TOMMO_GENOMICS	ss5194206681	Apr 26, 2021 (155)
52	TOMMO_GENOMICS	ss5194206682	Apr 26, 2021 (155)
53	TOMMO_GENOMICS	ss5194206683	Apr 26, 2021 (155)
54	TOMMO_GENOMICS	ss5194206684	Apr 26, 2021 (155)
55	1000G_HIGH_COVERAGE	ss5281336455	Oct 16, 2022 (156)
56	1000G_HIGH_COVERAGE	ss5281336456	Oct 16, 2022 (156)
57	HUGCELL_USP	ss5477290601	Oct 16, 2022 (156)
58	HUGCELL_USP	ss5477290602	Oct 16, 2022 (156)
59	HUGCELL_USP	ss5477290603	Oct 16, 2022 (156)
60	HUGCELL_USP	ss5477290604	Oct 16, 2022 (156)
61	HUGCELL_USP	ss5477290605	Oct 16, 2022 (156)
62	TOMMO_GENOMICS	ss5738410421	Oct 16, 2022 (156)
63	TOMMO_GENOMICS	ss5738410422	Oct 16, 2022 (156)
64	TOMMO_GENOMICS	ss5738410423	Oct 16, 2022 (156)
65	TOMMO_GENOMICS	ss5738410424	Oct 16, 2022 (156)
66	TOMMO_GENOMICS	ss5738410425	Oct 16, 2022 (156)
67	EVA	ss5829414981	Oct 16, 2022 (156)
68	EVA	ss5829414982	Oct 16, 2022 (156)
69	EVA	ss5856831428	Oct 16, 2022 (156)
70	1000Genomes	NC_000009.11 - 92099904	Oct 12, 2018 (152)
71	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 25981230 (NC_000009.11:92099903::TG 1349/3854) Row 25981231 (NC_000009.11:92099903:TGTG: 1026/3854)	-	Oct 12, 2018 (152)
72	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 25981230 (NC_000009.11:92099903::TG 1349/3854) Row 25981231 (NC_000009.11:92099903:TGTG: 1026/3854)	-	Oct 12, 2018 (152)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 330705062 (NC_000009.12:89484988::TG 37432/137802) Row 330705063 (NC_000009.12:89484988::TGTG 3642/137934) Row 330705064 (NC_000009.12:89484988::TGTGTG 840/137940)...	-	Apr 26, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 330705062 (NC_000009.12:89484988::TG 37432/137802) Row 330705063 (NC_000009.12:89484988::TGTG 3642/137934) Row 330705064 (NC_000009.12:89484988::TGTGTG 840/137940)...	-	Apr 26, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 330705062 (NC_000009.12:89484988::TG 37432/137802) Row 330705063 (NC_000009.12:89484988::TGTG 3642/137934) Row 330705064 (NC_000009.12:89484988::TGTGTG 840/137940)...	-	Apr 26, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 330705062 (NC_000009.12:89484988::TG 37432/137802) Row 330705063 (NC_000009.12:89484988::TGTG 3642/137934) Row 330705064 (NC_000009.12:89484988::TGTGTG 840/137940)...	-	Apr 26, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 330705062 (NC_000009.12:89484988::TG 37432/137802) Row 330705063 (NC_000009.12:89484988::TGTG 3642/137934) Row 330705064 (NC_000009.12:89484988::TGTGTG 840/137940)...	-	Apr 26, 2021 (155)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 330705062 (NC_000009.12:89484988::TG 37432/137802) Row 330705063 (NC_000009.12:89484988::TGTG 3642/137934) Row 330705064 (NC_000009.12:89484988::TGTGTG 840/137940)...	-	Apr 26, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 330705062 (NC_000009.12:89484988::TG 37432/137802) Row 330705063 (NC_000009.12:89484988::TGTG 3642/137934) Row 330705064 (NC_000009.12:89484988::TGTGTG 840/137940)...	-	Apr 26, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 330705062 (NC_000009.12:89484988::TG 37432/137802) Row 330705063 (NC_000009.12:89484988::TGTG 3642/137934) Row 330705064 (NC_000009.12:89484988::TGTGTG 840/137940)...	-	Apr 26, 2021 (155)
81	Korean Genome Project Submission ignored due to conflicting rows: Row 22635645 (NC_000009.12:89484992::TGTG 80/1832) Row 22635646 (NC_000009.12:89484992::TG 32/1832) Row 22635647 (NC_000009.12:89484990:TG: 71/1832)...	-	Apr 26, 2020 (154)
82	Korean Genome Project Submission ignored due to conflicting rows: Row 22635645 (NC_000009.12:89484992::TGTG 80/1832) Row 22635646 (NC_000009.12:89484992::TG 32/1832) Row 22635647 (NC_000009.12:89484990:TG: 71/1832)...	-	Apr 26, 2020 (154)
83	Korean Genome Project Submission ignored due to conflicting rows: Row 22635645 (NC_000009.12:89484992::TGTG 80/1832) Row 22635646 (NC_000009.12:89484992::TG 32/1832) Row 22635647 (NC_000009.12:89484990:TG: 71/1832)...	-	Apr 26, 2020 (154)
84	Korean Genome Project Submission ignored due to conflicting rows: Row 22635645 (NC_000009.12:89484992::TGTG 80/1832) Row 22635646 (NC_000009.12:89484992::TG 32/1832) Row 22635647 (NC_000009.12:89484990:TG: 71/1832)...	-	Apr 26, 2020 (154)
85	Korean Genome Project Submission ignored due to conflicting rows: Row 22635645 (NC_000009.12:89484992::TGTG 80/1832) Row 22635646 (NC_000009.12:89484992::TG 32/1832) Row 22635647 (NC_000009.12:89484990:TG: 71/1832)...	-	Apr 26, 2020 (154)
86	8.3KJPN Submission ignored due to conflicting rows: Row 52175987 (NC_000009.11:92099903::TGTG 1738/16760) Row 52175988 (NC_000009.11:92099903::TG 235/16760) Row 52175989 (NC_000009.11:92099903:TGTG: 4/16760)...	-	Apr 26, 2021 (155)
87	8.3KJPN Submission ignored due to conflicting rows: Row 52175987 (NC_000009.11:92099903::TGTG 1738/16760) Row 52175988 (NC_000009.11:92099903::TG 235/16760) Row 52175989 (NC_000009.11:92099903:TGTG: 4/16760)...	-	Apr 26, 2021 (155)
88	8.3KJPN Submission ignored due to conflicting rows: Row 52175987 (NC_000009.11:92099903::TGTG 1738/16760) Row 52175988 (NC_000009.11:92099903::TG 235/16760) Row 52175989 (NC_000009.11:92099903:TGTG: 4/16760)...	-	Apr 26, 2021 (155)
89	8.3KJPN Submission ignored due to conflicting rows: Row 52175987 (NC_000009.11:92099903::TGTG 1738/16760) Row 52175988 (NC_000009.11:92099903::TG 235/16760) Row 52175989 (NC_000009.11:92099903:TGTG: 4/16760)...	-	Apr 26, 2021 (155)
90	8.3KJPN Submission ignored due to conflicting rows: Row 52175987 (NC_000009.11:92099903::TGTG 1738/16760) Row 52175988 (NC_000009.11:92099903::TG 235/16760) Row 52175989 (NC_000009.11:92099903:TGTG: 4/16760)...	-	Apr 26, 2021 (155)
91	14KJPN Submission ignored due to conflicting rows: Row 72247525 (NC_000009.12:89484988::TGTG 2785/28242) Row 72247526 (NC_000009.12:89484988::TGTGTG 24/28242) Row 72247527 (NC_000009.12:89484988:TG: 25/28242)...	-	Oct 16, 2022 (156)
92	14KJPN Submission ignored due to conflicting rows: Row 72247525 (NC_000009.12:89484988::TGTG 2785/28242) Row 72247526 (NC_000009.12:89484988::TGTGTG 24/28242) Row 72247527 (NC_000009.12:89484988:TG: 25/28242)...	-	Oct 16, 2022 (156)
93	14KJPN Submission ignored due to conflicting rows: Row 72247525 (NC_000009.12:89484988::TGTG 2785/28242) Row 72247526 (NC_000009.12:89484988::TGTGTG 24/28242) Row 72247527 (NC_000009.12:89484988:TG: 25/28242)...	-	Oct 16, 2022 (156)
94	14KJPN Submission ignored due to conflicting rows: Row 72247525 (NC_000009.12:89484988::TGTG 2785/28242) Row 72247526 (NC_000009.12:89484988::TGTGTG 24/28242) Row 72247527 (NC_000009.12:89484988:TG: 25/28242)...	-	Oct 16, 2022 (156)
95	14KJPN Submission ignored due to conflicting rows: Row 72247525 (NC_000009.12:89484988::TGTG 2785/28242) Row 72247526 (NC_000009.12:89484988::TGTGTG 24/28242) Row 72247527 (NC_000009.12:89484988:TG: 25/28242)...	-	Oct 16, 2022 (156)
96	UK 10K study - Twins Submission ignored due to conflicting rows: Row 25981230 (NC_000009.11:92099903::TG 1327/3708) Row 25981231 (NC_000009.11:92099903:TGTG: 936/3708)	-	Oct 12, 2018 (152)
97	UK 10K study - Twins Submission ignored due to conflicting rows: Row 25981230 (NC_000009.11:92099903::TG 1327/3708) Row 25981231 (NC_000009.11:92099903:TGTG: 936/3708)	-	Oct 12, 2018 (152)
98	ALFA	NC_000009.12 - 89484989	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).

Associated ID	History Updated (Build)
rs145548392	Sep 17, 2011 (135)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
2942870489	NC_000009.12:89484988:TGTGTGTGTGTG… NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGT	NC_000009.12:89484988:TGTGTGTGTGTG… NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGT	(self)
2942870489	NC_000009.12:89484988:TGTGTGTGTGTG… NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT	NC_000009.12:89484988:TGTGTGTGTGTG… NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT	(self)
ss3724276174, ss4205266342	NC_000009.12:89484988:TGTGTG:	NC_000009.12:89484988:TGTGTGTGTGTG… NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT	(self)
2942870489	NC_000009.12:89484988:TGTGTGTGTGTG… NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT	NC_000009.12:89484988:TGTGTGTGTGTG… NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT	(self)
ss327234631, ss551956489	NC_000009.10:91289723:TGTG:	NC_000009.12:89484988:TGTGTGTGTGTG… NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT	(self)
46778301, ss1368430590, ss1706466777, ss1706466827, ss1806051323, ss3005197897, ss5194206682, ss5829414982	NC_000009.11:92099903:TGTG:	NC_000009.12:89484988:TGTGTGTGTGTG… NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT	(self)
ss554470531	NC_000009.11:92099922:GTGT:	NC_000009.12:89484988:TGTGTGTGTGTG… NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT	(self)
ss3812556770, ss3966257648, ss4205266341, ss5477290604, ss5738410424	NC_000009.12:89484988:TGTG:	NC_000009.12:89484988:TGTGTGTGTGTG… NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT	(self)
2942870489	NC_000009.12:89484988:TGTGTGTGTGTG… NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT	NC_000009.12:89484988:TGTGTGTGTGTG… NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT	(self)
ss3724276175	NC_000009.12:89484990:TGTG:	NC_000009.12:89484988:TGTGTGTGTGTG… NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT	(self)
ss194029485	NT_008470.20:21264436:TGTG:	NC_000009.12:89484988:TGTGTGTGTGTG… NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT	(self)
ss327161701, ss553382635	NC_000009.10:91289723:TG:	NC_000009.12:89484988:TGTGTGTGTGTG… NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT	(self)
ss663940892, ss5194206683	NC_000009.11:92099903:TG:	NC_000009.12:89484988:TGTGTGTGTGTG… NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT	(self)
ss4205266340, ss5477290603, ss5738410423	NC_000009.12:89484988:TG:	NC_000009.12:89484988:TGTGTGTGTGTG… NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT	(self)
2942870489	NC_000009.12:89484988:TGTGTGTGTGTG… NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT	NC_000009.12:89484988:TGTGTGTGTGTG… NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT	(self)
ss3966257646	NC_000009.12:89484990:TG:	NC_000009.12:89484988:TGTGTGTGTGTG… NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT	(self)
ss3724276176	NC_000009.12:89484992:TG:	NC_000009.12:89484988:TGTGTGTGTGTG… NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT	(self)
ss256119749	NC_000009.10:91289723::TG	NC_000009.12:89484988:TGTGTGTGTGTG… NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss666475263, ss1806051322, ss3786459702, ss3791669627, ss3796551042, ss3831735034, ss3839395668, ss5194206681, ss5829414981	NC_000009.11:92099903::TG	NC_000009.12:89484988:TGTGTGTGTGTG… NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss1368430593, ss1710430777, ss1710430906	NC_000009.11:92099907::TG	NC_000009.12:89484988:TGTGTGTGTGTG… NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss3066257861, ss3649189283, ss3844858915, ss4205266335, ss5281336455, ss5477290601, ss5738410425	NC_000009.12:89484988::TG	NC_000009.12:89484988:TGTGTGTGTGTG… NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT	(self)
2942870489	NC_000009.12:89484988:TGTGTGTGTGTG… NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT	NC_000009.12:89484988:TGTGTGTGTGTG… NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss3812556771, ss3966257645	NC_000009.12:89484992::TG	NC_000009.12:89484988:TGTGTGTGTGTG… NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss3724276177	NC_000009.12:89484994::TG	NC_000009.12:89484988:TGTGTGTGTGTG… NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss287847794	NT_008470.19:21264458::GT	NC_000009.12:89484988:TGTGTGTGTGTG… NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss5194206680	NC_000009.11:92099903::TGTG	NC_000009.12:89484988:TGTGTGTGTGTG… NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss1368430596	NC_000009.11:92099907::TGTG	NC_000009.12:89484988:TGTGTGTGTGTG… NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss4205266336, ss5477290605, ss5738410421, ss5856831428	NC_000009.12:89484988::TGTG	NC_000009.12:89484988:TGTGTGTGTGTG… NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
2942870489	NC_000009.12:89484988:TGTGTGTGTGTG… NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT	NC_000009.12:89484988:TGTGTGTGTGTG… NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss3812556769, ss3966257644	NC_000009.12:89484992::TGTG	NC_000009.12:89484988:TGTGTGTGTGTG… NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss3724276178	NC_000009.12:89484994::TGTG	NC_000009.12:89484988:TGTGTGTGTGTG… NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss5194206684	NC_000009.11:92099903::TGTGTG	NC_000009.12:89484988:TGTGTGTGTGTG… NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss4205266337, ss5281336456, ss5477290602, ss5738410422	NC_000009.12:89484988::TGTGTG	NC_000009.12:89484988:TGTGTGTGTGTG… NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
2942870489	NC_000009.12:89484988:TGTGTGTGTGTG… NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT	NC_000009.12:89484988:TGTGTGTGTGTG… NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss3966257647	NC_000009.12:89484992::TGTGTG	NC_000009.12:89484988:TGTGTGTGTGTG… NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss4205266338	NC_000009.12:89484988::TGTGTGTG	NC_000009.12:89484988:TGTGTGTGTGTG… NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
2942870489	NC_000009.12:89484988:TGTGTGTGTGTG… NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	NC_000009.12:89484988:TGTGTGTGTGTG… NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss4205266339	NC_000009.12:89484988::TGTGTGTGTG	NC_000009.12:89484988:TGTGTGTGTGTG… NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(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 rs111818272

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
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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.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs111818272