Name: rs199529204
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.

rs199529204

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:46941741-46941756 (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(T)₇ / delTTT / delTT / delT / …
del(T)₇ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₅ / dup(T)₆ / dup(T)₇ / dup(T)₈ / dup(T)₁₁ / dup(T)₁₃
Variation Type: Indel Insertion and Deletion
Frequency: delT=0.02865 (358/12494, ALFA)
delT=0.1869 (936/5008, 1000G)
delT=0.25 (10/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: GOSR2 : Intron Variant
LRRC37A2 : 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	12494	TTTTTTTTTTTTTTTT=0.96134	TTTTTTTTT=0.00000, TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.02865, TTTTTTTTTTTTTTTTTTTTTTTT=0.00040, TTTTTTTTTTTTTTTTTT=0.00352, TTTTTTTTTTTTTTTTT=0.00528, TTTTTTTTTTTTTTTTTTTTTT=0.00056, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00024, TTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTT=0.00000	0.946312	0.002937	0.050751	20
European	Sub	10216	TTTTTTTTTTTTTTTT=0.95282	TTTTTTTTT=0.00000, TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.03495, TTTTTTTTTTTTTTTTTTTTTTTT=0.00049, TTTTTTTTTTTTTTTTTT=0.00431, TTTTTTTTTTTTTTTTT=0.00646, TTTTTTTTTTTTTTTTTTTTTT=0.00069, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00029, TTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTT=0.00000	0.934255	0.003608	0.062137	14
African	Sub	1318	TTTTTTTTTTTTTTTT=1.0000	TTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	42	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	1276	TTTTTTTTTTTTTTTT=1.0000	TTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	88	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	74	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	14	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	96	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	370	TTTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	78	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	328	TTTTTTTTTTTTTTTT=0.997	TTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.003, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000	0.993902	0.0	0.006098	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	12494	(T)₁₆=0.96134	del(T)₇=0.00000, delTT=0.00000, delT=0.02865, dupT=0.00528, dupTT=0.00352, dupTTT=0.00000, dup(T)₅=0.00000, dup(T)₆=0.00056, dup(T)₈=0.00040, dup(T)₁₁=0.00024
Allele Frequency Aggregator	European	Sub	10216	(T)₁₆=0.95282	del(T)₇=0.00000, delTT=0.00000, delT=0.03495, dupT=0.00646, dupTT=0.00431, dupTTT=0.00000, dup(T)₅=0.00000, dup(T)₆=0.00069, dup(T)₈=0.00049, dup(T)₁₁=0.00029
Allele Frequency Aggregator	African	Sub	1318	(T)₁₆=1.0000	del(T)₇=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000, dup(T)₅=0.0000, dup(T)₆=0.0000, dup(T)₈=0.0000, dup(T)₁₁=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	370	(T)₁₆=1.000	del(T)₇=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₅=0.000, dup(T)₆=0.000, dup(T)₈=0.000, dup(T)₁₁=0.000
Allele Frequency Aggregator	Other	Sub	328	(T)₁₆=0.997	del(T)₇=0.000, delTT=0.000, delT=0.003, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₅=0.000, dup(T)₆=0.000, dup(T)₈=0.000, dup(T)₁₁=0.000
Allele Frequency Aggregator	Latin American 1	Sub	96	(T)₁₆=1.00	del(T)₇=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₅=0.00, dup(T)₆=0.00, dup(T)₈=0.00, dup(T)₁₁=0.00
Allele Frequency Aggregator	Asian	Sub	88	(T)₁₆=1.00	del(T)₇=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₅=0.00, dup(T)₆=0.00, dup(T)₈=0.00, dup(T)₁₁=0.00
Allele Frequency Aggregator	South Asian	Sub	78	(T)₁₆=1.00	del(T)₇=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₅=0.00, dup(T)₆=0.00, dup(T)₈=0.00, dup(T)₁₁=0.00
1000Genomes	Global	Study-wide	5008	(T)₁₆=0.8131	delT=0.1869
1000Genomes	African	Sub	1322	(T)₁₆=0.7572	delT=0.2428
1000Genomes	East Asian	Sub	1008	(T)₁₆=0.8601	delT=0.1399
1000Genomes	Europe	Sub	1006	(T)₁₆=0.7903	delT=0.2097
1000Genomes	South Asian	Sub	978	(T)₁₆=0.864	delT=0.136
1000Genomes	American	Sub	694	(T)₁₆=0.813	delT=0.187
The Danish reference pan genome	Danish	Study-wide	40	(T)₁₆=0.75	delT=0.25

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.46941750_46941756del
GRCh38.p14 chr 17	NC_000017.11:g.46941754_46941756del
GRCh38.p14 chr 17	NC_000017.11:g.46941755_46941756del
GRCh38.p14 chr 17	NC_000017.11:g.46941756del
GRCh38.p14 chr 17	NC_000017.11:g.46941756dup
GRCh38.p14 chr 17	NC_000017.11:g.46941755_46941756dup
GRCh38.p14 chr 17	NC_000017.11:g.46941754_46941756dup
GRCh38.p14 chr 17	NC_000017.11:g.46941752_46941756dup
GRCh38.p14 chr 17	NC_000017.11:g.46941751_46941756dup
GRCh38.p14 chr 17	NC_000017.11:g.46941750_46941756dup
GRCh38.p14 chr 17	NC_000017.11:g.46941749_46941756dup
GRCh38.p14 chr 17	NC_000017.11:g.46941746_46941756dup
GRCh38.p14 chr 17	NC_000017.11:g.46941744_46941756dup
GRCh37.p13 chr 17	NC_000017.10:g.45019116_45019122del
GRCh37.p13 chr 17	NC_000017.10:g.45019120_45019122del
GRCh37.p13 chr 17	NC_000017.10:g.45019121_45019122del
GRCh37.p13 chr 17	NC_000017.10:g.45019122del
GRCh37.p13 chr 17	NC_000017.10:g.45019122dup
GRCh37.p13 chr 17	NC_000017.10:g.45019121_45019122dup
GRCh37.p13 chr 17	NC_000017.10:g.45019120_45019122dup
GRCh37.p13 chr 17	NC_000017.10:g.45019118_45019122dup
GRCh37.p13 chr 17	NC_000017.10:g.45019117_45019122dup
GRCh37.p13 chr 17	NC_000017.10:g.45019116_45019122dup
GRCh37.p13 chr 17	NC_000017.10:g.45019115_45019122dup
GRCh37.p13 chr 17	NC_000017.10:g.45019112_45019122dup
GRCh37.p13 chr 17	NC_000017.10:g.45019110_45019122dup
GOSR2 RefSeqGene	NG_031806.2:g.23631_23637del
GOSR2 RefSeqGene	NG_031806.2:g.23635_23637del
GOSR2 RefSeqGene	NG_031806.2:g.23636_23637del
GOSR2 RefSeqGene	NG_031806.2:g.23637del
GOSR2 RefSeqGene	NG_031806.2:g.23637dup
GOSR2 RefSeqGene	NG_031806.2:g.23636_23637dup
GOSR2 RefSeqGene	NG_031806.2:g.23635_23637dup
GOSR2 RefSeqGene	NG_031806.2:g.23633_23637dup
GOSR2 RefSeqGene	NG_031806.2:g.23632_23637dup
GOSR2 RefSeqGene	NG_031806.2:g.23631_23637dup
GOSR2 RefSeqGene	NG_031806.2:g.23630_23637dup
GOSR2 RefSeqGene	NG_031806.2:g.23627_23637dup
GOSR2 RefSeqGene	NG_031806.2:g.23625_23637dup

Gene: GOSR2, golgi SNAP receptor complex member 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
GOSR2 transcript variant D	NM_001321133.2:c.583+3046… NM_001321133.2:c.583+3046_583+3052del	N/A	Intron Variant
GOSR2 transcript variant I	NM_001353116.2:c.1128_1… NM_001353116.2:c.1128_1143=	N/A	3 Prime UTR Variant
GOSR2 transcript variant B	NM_054022.4:c.1128_1143=	N/A	3 Prime UTR Variant
GOSR2 transcript variant A	NM_004287.5:c.2981_2996=	N/A	3 Prime UTR Variant
GOSR2 transcript variant F	NM_001330252.2:c.2981_2… NM_001330252.2:c.2981_2996=	N/A	3 Prime UTR Variant
GOSR2 transcript variant G	NM_001353114.2:c.2981_2… NM_001353114.2:c.2981_2996=	N/A	3 Prime UTR Variant
GOSR2 transcript variant H	NM_001353115.2:c.2981_2… NM_001353115.2:c.2981_2996=	N/A	3 Prime UTR Variant
GOSR2 transcript variant M	NM_001363851.2:c.2981_2… NM_001363851.2:c.2981_2996=	N/A	3 Prime UTR Variant
GOSR2 transcript variant E	NM_001321134.2:c.2981_2… NM_001321134.2:c.2981_2996=	N/A	3 Prime UTR Variant
GOSR2 transcript variant C	NM_001012511.3:c.	N/A	Genic Downstream Transcript Variant
GOSR2 transcript variant J	NR_148349.2:n.	N/A	Intron Variant
GOSR2 transcript variant K	NR_148350.2:n.	N/A	Intron Variant
GOSR2 transcript variant L	NR_148351.2:n.	N/A	Intron Variant
GOSR2 transcript variant X4	XM_006722190.5:c.583+3046… XM_006722190.5:c.583+3046_583+3052del	N/A	Intron Variant
GOSR2 transcript variant X8	XM_011525501.4:c.583+3046… XM_011525501.4:c.583+3046_583+3052del	N/A	Intron Variant
GOSR2 transcript variant X9	XM_011525502.4:c.583+3046… XM_011525502.4:c.583+3046_583+3052del	N/A	Intron Variant
GOSR2 transcript variant X1	XM_017025378.2:c.580+3046… XM_017025378.2:c.580+3046_580+3052del	N/A	Intron Variant
GOSR2 transcript variant X3	XM_017025383.3:c.583+3046… XM_017025383.3:c.583+3046_583+3052del	N/A	Intron Variant
GOSR2 transcript variant X5	XM_017025386.2:c.442+3046… XM_017025386.2:c.442+3046_442+3052del	N/A	Intron Variant
GOSR2 transcript variant X6	XM_017025387.2:c.439+3046… XM_017025387.2:c.439+3046_439+3052del	N/A	Intron Variant
GOSR2 transcript variant X21	XM_017025389.2:c.529+3046… XM_017025389.2:c.529+3046_529+3052del	N/A	Intron Variant
GOSR2 transcript variant X10	XM_017025392.2:c.442+3046… XM_017025392.2:c.442+3046_442+3052del	N/A	Intron Variant
GOSR2 transcript variant X12	XM_047437112.1:c.583+3046… XM_047437112.1:c.583+3046_583+3052del	N/A	Intron Variant
GOSR2 transcript variant X15	XM_047437113.1:c.580+3046… XM_047437113.1:c.580+3046_580+3052del	N/A	Intron Variant
GOSR2 transcript variant X16	XM_047437114.1:c.529+3046… XM_047437114.1:c.529+3046_529+3052del	N/A	Intron Variant
GOSR2 transcript variant X17	XM_047437115.1:c.526+3046… XM_047437115.1:c.526+3046_526+3052del	N/A	Intron Variant
GOSR2 transcript variant X2	XM_047437116.1:c.583+3046… XM_047437116.1:c.583+3046_583+3052del	N/A	Intron Variant
GOSR2 transcript variant X18	XM_047437117.1:c.442+3046… XM_047437117.1:c.442+3046_442+3052del	N/A	Intron Variant
GOSR2 transcript variant X19	XM_047437118.1:c.439+3046… XM_047437118.1:c.439+3046_439+3052del	N/A	Intron Variant
GOSR2 transcript variant X7	XM_047437119.1:c.583+3046… XM_047437119.1:c.583+3046_583+3052del	N/A	Intron Variant
GOSR2 transcript variant X11	XM_047437120.1:c.442+3046… XM_047437120.1:c.442+3046_442+3052del	N/A	Intron Variant
GOSR2 transcript variant X13	XR_007065552.1:n.	N/A	Intron Variant
GOSR2 transcript variant X14	XR_007065553.1:n.	N/A	Intron Variant
GOSR2 transcript variant X20	XR_934616.4:n.	N/A	Intron Variant

Gene: LRRC37A2, leucine rich repeat containing 37 member A2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LRRC37A2 transcript variant 1	NM_001006607.3:c.	N/A	Genic Downstream Transcript Variant
LRRC37A2 transcript variant 2	NM_001385803.1:c.	N/A	Genic Downstream Transcript Variant
LRRC37A2 transcript variant X16	XM_024450773.2:c.4810-107… XM_024450773.2:c.4810-107306_4810-107300del	N/A	Intron Variant
LRRC37A2 transcript variant X1	XM_011524841.4:c.	N/A	Genic Downstream Transcript Variant
LRRC37A2 transcript variant X2	XM_011524842.4:c.	N/A	Genic Downstream Transcript Variant
LRRC37A2 transcript variant X3	XM_011524843.4:c.	N/A	Genic Downstream Transcript Variant
LRRC37A2 transcript variant X4	XM_011524844.4:c.	N/A	Genic Downstream Transcript Variant
LRRC37A2 transcript variant X5	XM_011524846.4:c.	N/A	Genic Downstream Transcript Variant
LRRC37A2 transcript variant X7	XM_011524848.4:c.	N/A	Genic Downstream Transcript Variant
LRRC37A2 transcript variant X9	XM_011524849.3:c.	N/A	Genic Downstream Transcript Variant
LRRC37A2 transcript variant X10	XM_011524850.4:c.	N/A	Genic Downstream Transcript Variant
LRRC37A2 transcript variant X14	XM_047436141.1:c.	N/A	Genic Downstream Transcript Variant
LRRC37A2 transcript variant X15	XM_047436142.1:c.	N/A	Genic Downstream Transcript Variant
LRRC37A2 transcript variant X6	XM_047436143.1:c.	N/A	Genic Downstream Transcript Variant
LRRC37A2 transcript variant X8	XM_047436144.1:c.	N/A	Genic Downstream Transcript Variant
LRRC37A2 transcript variant X11	XM_047436145.1:c.	N/A	Genic Downstream Transcript Variant
LRRC37A2 transcript variant X17	XM_047436146.1:c.	N/A	Genic Downstream Transcript Variant
LRRC37A2 transcript variant X12	XM_047436147.1:c.	N/A	Genic Downstream Transcript Variant
LRRC37A2 transcript variant X13	XR_007065300.1:n.	N/A	Genic Downstream 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	(T)₁₆=	del(T)₇	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₅	dup(T)₆	dup(T)₇	dup(T)₈	dup(T)₁₁	dup(T)₁₃
GRCh38.p14 chr 17	NC_000017.11:g.46941741_46941756=	NC_000017.11:g.46941750_46941756del	NC_000017.11:g.46941754_46941756del	NC_000017.11:g.46941755_46941756del	NC_000017.11:g.46941756del	NC_000017.11:g.46941756dup	NC_000017.11:g.46941755_46941756dup	NC_000017.11:g.46941754_46941756dup	NC_000017.11:g.46941752_46941756dup	NC_000017.11:g.46941751_46941756dup	NC_000017.11:g.46941750_46941756dup	NC_000017.11:g.46941749_46941756dup	NC_000017.11:g.46941746_46941756dup	NC_000017.11:g.46941744_46941756dup
GRCh37.p13 chr 17	NC_000017.10:g.45019107_45019122=	NC_000017.10:g.45019116_45019122del	NC_000017.10:g.45019120_45019122del	NC_000017.10:g.45019121_45019122del	NC_000017.10:g.45019122del	NC_000017.10:g.45019122dup	NC_000017.10:g.45019121_45019122dup	NC_000017.10:g.45019120_45019122dup	NC_000017.10:g.45019118_45019122dup	NC_000017.10:g.45019117_45019122dup	NC_000017.10:g.45019116_45019122dup	NC_000017.10:g.45019115_45019122dup	NC_000017.10:g.45019112_45019122dup	NC_000017.10:g.45019110_45019122dup
GOSR2 RefSeqGene	NG_031806.2:g.23622_23637=	NG_031806.2:g.23631_23637del	NG_031806.2:g.23635_23637del	NG_031806.2:g.23636_23637del	NG_031806.2:g.23637del	NG_031806.2:g.23637dup	NG_031806.2:g.23636_23637dup	NG_031806.2:g.23635_23637dup	NG_031806.2:g.23633_23637dup	NG_031806.2:g.23632_23637dup	NG_031806.2:g.23631_23637dup	NG_031806.2:g.23630_23637dup	NG_031806.2:g.23627_23637dup	NG_031806.2:g.23625_23637dup
GOSR2 transcript variant A	NM_004287.5:c.2981_2996=	NM_004287.5:c.2990_2996del	NM_004287.5:c.2994_2996del	NM_004287.5:c.2995_2996del	NM_004287.5:c.*2996del	NM_004287.5:c.*2996dup	NM_004287.5:c.2995_2996dup	NM_004287.5:c.2994_2996dup	NM_004287.5:c.2992_2996dup	NM_004287.5:c.2991_2996dup	NM_004287.5:c.2990_2996dup	NM_004287.5:c.2989_2996dup	NM_004287.5:c.2986_2996dup	NM_004287.5:c.2984_2996dup
GOSR2 transcript variant A	NM_004287.4:c.2981_2996=	NM_004287.4:c.2990_2996del	NM_004287.4:c.2994_2996del	NM_004287.4:c.2995_2996del	NM_004287.4:c.*2996del	NM_004287.4:c.*2996dup	NM_004287.4:c.2995_2996dup	NM_004287.4:c.2994_2996dup	NM_004287.4:c.2992_2996dup	NM_004287.4:c.2991_2996dup	NM_004287.4:c.2990_2996dup	NM_004287.4:c.2989_2996dup	NM_004287.4:c.2986_2996dup	NM_004287.4:c.2984_2996dup
GOSR2 transcript variant B	NM_054022.4:c.1128_1143=	NM_054022.4:c.1137_1143del	NM_054022.4:c.1141_1143del	NM_054022.4:c.1142_1143del	NM_054022.4:c.*1143del	NM_054022.4:c.*1143dup	NM_054022.4:c.1142_1143dup	NM_054022.4:c.1141_1143dup	NM_054022.4:c.1139_1143dup	NM_054022.4:c.1138_1143dup	NM_054022.4:c.1137_1143dup	NM_054022.4:c.1136_1143dup	NM_054022.4:c.1133_1143dup	NM_054022.4:c.1131_1143dup
GOSR2 transcript variant B	NM_054022.3:c.1128_1143=	NM_054022.3:c.1137_1143del	NM_054022.3:c.1141_1143del	NM_054022.3:c.1142_1143del	NM_054022.3:c.*1143del	NM_054022.3:c.*1143dup	NM_054022.3:c.1142_1143dup	NM_054022.3:c.1141_1143dup	NM_054022.3:c.1139_1143dup	NM_054022.3:c.1138_1143dup	NM_054022.3:c.1137_1143dup	NM_054022.3:c.1136_1143dup	NM_054022.3:c.1133_1143dup	NM_054022.3:c.1131_1143dup
GOSR2 transcript variant M	NM_001363851.2:c.2981_2996=	NM_001363851.2:c.2990_2996del	NM_001363851.2:c.2994_2996del	NM_001363851.2:c.2995_2996del	NM_001363851.2:c.*2996del	NM_001363851.2:c.*2996dup	NM_001363851.2:c.2995_2996dup	NM_001363851.2:c.2994_2996dup	NM_001363851.2:c.2992_2996dup	NM_001363851.2:c.2991_2996dup	NM_001363851.2:c.2990_2996dup	NM_001363851.2:c.2989_2996dup	NM_001363851.2:c.2986_2996dup	NM_001363851.2:c.2984_2996dup
GOSR2 transcript variant M	NM_001363851.1:c.2981_2996=	NM_001363851.1:c.2990_2996del	NM_001363851.1:c.2994_2996del	NM_001363851.1:c.2995_2996del	NM_001363851.1:c.*2996del	NM_001363851.1:c.*2996dup	NM_001363851.1:c.2995_2996dup	NM_001363851.1:c.2994_2996dup	NM_001363851.1:c.2992_2996dup	NM_001363851.1:c.2991_2996dup	NM_001363851.1:c.2990_2996dup	NM_001363851.1:c.2989_2996dup	NM_001363851.1:c.2986_2996dup	NM_001363851.1:c.2984_2996dup
GOSR2 transcript variant G	NM_001353114.2:c.2981_2996=	NM_001353114.2:c.2990_2996del	NM_001353114.2:c.2994_2996del	NM_001353114.2:c.2995_2996del	NM_001353114.2:c.*2996del	NM_001353114.2:c.*2996dup	NM_001353114.2:c.2995_2996dup	NM_001353114.2:c.2994_2996dup	NM_001353114.2:c.2992_2996dup	NM_001353114.2:c.2991_2996dup	NM_001353114.2:c.2990_2996dup	NM_001353114.2:c.2989_2996dup	NM_001353114.2:c.2986_2996dup	NM_001353114.2:c.2984_2996dup
GOSR2 transcript variant G	NM_001353114.1:c.2981_2996=	NM_001353114.1:c.2990_2996del	NM_001353114.1:c.2994_2996del	NM_001353114.1:c.2995_2996del	NM_001353114.1:c.*2996del	NM_001353114.1:c.*2996dup	NM_001353114.1:c.2995_2996dup	NM_001353114.1:c.2994_2996dup	NM_001353114.1:c.2992_2996dup	NM_001353114.1:c.2991_2996dup	NM_001353114.1:c.2990_2996dup	NM_001353114.1:c.2989_2996dup	NM_001353114.1:c.2986_2996dup	NM_001353114.1:c.2984_2996dup
GOSR2 transcript variant E	NM_001321134.2:c.2981_2996=	NM_001321134.2:c.2990_2996del	NM_001321134.2:c.2994_2996del	NM_001321134.2:c.2995_2996del	NM_001321134.2:c.*2996del	NM_001321134.2:c.*2996dup	NM_001321134.2:c.2995_2996dup	NM_001321134.2:c.2994_2996dup	NM_001321134.2:c.2992_2996dup	NM_001321134.2:c.2991_2996dup	NM_001321134.2:c.2990_2996dup	NM_001321134.2:c.2989_2996dup	NM_001321134.2:c.2986_2996dup	NM_001321134.2:c.2984_2996dup
GOSR2 transcript variant E	NM_001321134.1:c.2981_2996=	NM_001321134.1:c.2990_2996del	NM_001321134.1:c.2994_2996del	NM_001321134.1:c.2995_2996del	NM_001321134.1:c.*2996del	NM_001321134.1:c.*2996dup	NM_001321134.1:c.2995_2996dup	NM_001321134.1:c.2994_2996dup	NM_001321134.1:c.2992_2996dup	NM_001321134.1:c.2991_2996dup	NM_001321134.1:c.2990_2996dup	NM_001321134.1:c.2989_2996dup	NM_001321134.1:c.2986_2996dup	NM_001321134.1:c.2984_2996dup
GOSR2 transcript variant F	NM_001330252.2:c.2981_2996=	NM_001330252.2:c.2990_2996del	NM_001330252.2:c.2994_2996del	NM_001330252.2:c.2995_2996del	NM_001330252.2:c.*2996del	NM_001330252.2:c.*2996dup	NM_001330252.2:c.2995_2996dup	NM_001330252.2:c.2994_2996dup	NM_001330252.2:c.2992_2996dup	NM_001330252.2:c.2991_2996dup	NM_001330252.2:c.2990_2996dup	NM_001330252.2:c.2989_2996dup	NM_001330252.2:c.2986_2996dup	NM_001330252.2:c.2984_2996dup
GOSR2 transcript variant F	NM_001330252.1:c.2981_2996=	NM_001330252.1:c.2990_2996del	NM_001330252.1:c.2994_2996del	NM_001330252.1:c.2995_2996del	NM_001330252.1:c.*2996del	NM_001330252.1:c.*2996dup	NM_001330252.1:c.2995_2996dup	NM_001330252.1:c.2994_2996dup	NM_001330252.1:c.2992_2996dup	NM_001330252.1:c.2991_2996dup	NM_001330252.1:c.2990_2996dup	NM_001330252.1:c.2989_2996dup	NM_001330252.1:c.2986_2996dup	NM_001330252.1:c.2984_2996dup
GOSR2 transcript variant H	NM_001353115.2:c.2981_2996=	NM_001353115.2:c.2990_2996del	NM_001353115.2:c.2994_2996del	NM_001353115.2:c.2995_2996del	NM_001353115.2:c.*2996del	NM_001353115.2:c.*2996dup	NM_001353115.2:c.2995_2996dup	NM_001353115.2:c.2994_2996dup	NM_001353115.2:c.2992_2996dup	NM_001353115.2:c.2991_2996dup	NM_001353115.2:c.2990_2996dup	NM_001353115.2:c.2989_2996dup	NM_001353115.2:c.2986_2996dup	NM_001353115.2:c.2984_2996dup
GOSR2 transcript variant H	NM_001353115.1:c.2981_2996=	NM_001353115.1:c.2990_2996del	NM_001353115.1:c.2994_2996del	NM_001353115.1:c.2995_2996del	NM_001353115.1:c.*2996del	NM_001353115.1:c.*2996dup	NM_001353115.1:c.2995_2996dup	NM_001353115.1:c.2994_2996dup	NM_001353115.1:c.2992_2996dup	NM_001353115.1:c.2991_2996dup	NM_001353115.1:c.2990_2996dup	NM_001353115.1:c.2989_2996dup	NM_001353115.1:c.2986_2996dup	NM_001353115.1:c.2984_2996dup
GOSR2 transcript variant I	NM_001353116.2:c.1128_1143=	NM_001353116.2:c.1137_1143del	NM_001353116.2:c.1141_1143del	NM_001353116.2:c.1142_1143del	NM_001353116.2:c.*1143del	NM_001353116.2:c.*1143dup	NM_001353116.2:c.1142_1143dup	NM_001353116.2:c.1141_1143dup	NM_001353116.2:c.1139_1143dup	NM_001353116.2:c.1138_1143dup	NM_001353116.2:c.1137_1143dup	NM_001353116.2:c.1136_1143dup	NM_001353116.2:c.1133_1143dup	NM_001353116.2:c.1131_1143dup
GOSR2 transcript variant I	NM_001353116.1:c.1128_1143=	NM_001353116.1:c.1137_1143del	NM_001353116.1:c.1141_1143del	NM_001353116.1:c.1142_1143del	NM_001353116.1:c.*1143del	NM_001353116.1:c.*1143dup	NM_001353116.1:c.1142_1143dup	NM_001353116.1:c.1141_1143dup	NM_001353116.1:c.1139_1143dup	NM_001353116.1:c.1138_1143dup	NM_001353116.1:c.1137_1143dup	NM_001353116.1:c.1136_1143dup	NM_001353116.1:c.1133_1143dup	NM_001353116.1:c.1131_1143dup
GOSR2 transcript variant D	NM_001321133.2:c.583+3037=	NM_001321133.2:c.583+3046_583+3052del	NM_001321133.2:c.583+3050_583+3052del	NM_001321133.2:c.583+3051_583+3052del	NM_001321133.2:c.583+3052del	NM_001321133.2:c.583+3052dup	NM_001321133.2:c.583+3051_583+3052dup	NM_001321133.2:c.583+3050_583+3052dup	NM_001321133.2:c.583+3048_583+3052dup	NM_001321133.2:c.583+3047_583+3052dup	NM_001321133.2:c.583+3046_583+3052dup	NM_001321133.2:c.583+3045_583+3052dup	NM_001321133.2:c.583+3042_583+3052dup	NM_001321133.2:c.583+3040_583+3052dup
GOSR2 transcript variant X1	XM_005257843.1:c.583+3037=	XM_005257843.1:c.583+3046_583+3052del	XM_005257843.1:c.583+3050_583+3052del	XM_005257843.1:c.583+3051_583+3052del	XM_005257843.1:c.583+3052del	XM_005257843.1:c.583+3052dup	XM_005257843.1:c.583+3051_583+3052dup	XM_005257843.1:c.583+3050_583+3052dup	XM_005257843.1:c.583+3048_583+3052dup	XM_005257843.1:c.583+3047_583+3052dup	XM_005257843.1:c.583+3046_583+3052dup	XM_005257843.1:c.583+3045_583+3052dup	XM_005257843.1:c.583+3042_583+3052dup	XM_005257843.1:c.583+3040_583+3052dup
GOSR2 transcript variant X4	XM_006722190.5:c.583+3037=	XM_006722190.5:c.583+3046_583+3052del	XM_006722190.5:c.583+3050_583+3052del	XM_006722190.5:c.583+3051_583+3052del	XM_006722190.5:c.583+3052del	XM_006722190.5:c.583+3052dup	XM_006722190.5:c.583+3051_583+3052dup	XM_006722190.5:c.583+3050_583+3052dup	XM_006722190.5:c.583+3048_583+3052dup	XM_006722190.5:c.583+3047_583+3052dup	XM_006722190.5:c.583+3046_583+3052dup	XM_006722190.5:c.583+3045_583+3052dup	XM_006722190.5:c.583+3042_583+3052dup	XM_006722190.5:c.583+3040_583+3052dup
GOSR2 transcript variant X8	XM_011525501.4:c.583+3037=	XM_011525501.4:c.583+3046_583+3052del	XM_011525501.4:c.583+3050_583+3052del	XM_011525501.4:c.583+3051_583+3052del	XM_011525501.4:c.583+3052del	XM_011525501.4:c.583+3052dup	XM_011525501.4:c.583+3051_583+3052dup	XM_011525501.4:c.583+3050_583+3052dup	XM_011525501.4:c.583+3048_583+3052dup	XM_011525501.4:c.583+3047_583+3052dup	XM_011525501.4:c.583+3046_583+3052dup	XM_011525501.4:c.583+3045_583+3052dup	XM_011525501.4:c.583+3042_583+3052dup	XM_011525501.4:c.583+3040_583+3052dup
GOSR2 transcript variant X9	XM_011525502.4:c.583+3037=	XM_011525502.4:c.583+3046_583+3052del	XM_011525502.4:c.583+3050_583+3052del	XM_011525502.4:c.583+3051_583+3052del	XM_011525502.4:c.583+3052del	XM_011525502.4:c.583+3052dup	XM_011525502.4:c.583+3051_583+3052dup	XM_011525502.4:c.583+3050_583+3052dup	XM_011525502.4:c.583+3048_583+3052dup	XM_011525502.4:c.583+3047_583+3052dup	XM_011525502.4:c.583+3046_583+3052dup	XM_011525502.4:c.583+3045_583+3052dup	XM_011525502.4:c.583+3042_583+3052dup	XM_011525502.4:c.583+3040_583+3052dup
GOSR2 transcript variant X1	XM_017025378.2:c.580+3037=	XM_017025378.2:c.580+3046_580+3052del	XM_017025378.2:c.580+3050_580+3052del	XM_017025378.2:c.580+3051_580+3052del	XM_017025378.2:c.580+3052del	XM_017025378.2:c.580+3052dup	XM_017025378.2:c.580+3051_580+3052dup	XM_017025378.2:c.580+3050_580+3052dup	XM_017025378.2:c.580+3048_580+3052dup	XM_017025378.2:c.580+3047_580+3052dup	XM_017025378.2:c.580+3046_580+3052dup	XM_017025378.2:c.580+3045_580+3052dup	XM_017025378.2:c.580+3042_580+3052dup	XM_017025378.2:c.580+3040_580+3052dup
GOSR2 transcript variant X3	XM_017025383.3:c.583+3037=	XM_017025383.3:c.583+3046_583+3052del	XM_017025383.3:c.583+3050_583+3052del	XM_017025383.3:c.583+3051_583+3052del	XM_017025383.3:c.583+3052del	XM_017025383.3:c.583+3052dup	XM_017025383.3:c.583+3051_583+3052dup	XM_017025383.3:c.583+3050_583+3052dup	XM_017025383.3:c.583+3048_583+3052dup	XM_017025383.3:c.583+3047_583+3052dup	XM_017025383.3:c.583+3046_583+3052dup	XM_017025383.3:c.583+3045_583+3052dup	XM_017025383.3:c.583+3042_583+3052dup	XM_017025383.3:c.583+3040_583+3052dup
GOSR2 transcript variant X5	XM_017025386.2:c.442+3037=	XM_017025386.2:c.442+3046_442+3052del	XM_017025386.2:c.442+3050_442+3052del	XM_017025386.2:c.442+3051_442+3052del	XM_017025386.2:c.442+3052del	XM_017025386.2:c.442+3052dup	XM_017025386.2:c.442+3051_442+3052dup	XM_017025386.2:c.442+3050_442+3052dup	XM_017025386.2:c.442+3048_442+3052dup	XM_017025386.2:c.442+3047_442+3052dup	XM_017025386.2:c.442+3046_442+3052dup	XM_017025386.2:c.442+3045_442+3052dup	XM_017025386.2:c.442+3042_442+3052dup	XM_017025386.2:c.442+3040_442+3052dup
GOSR2 transcript variant X6	XM_017025387.2:c.439+3037=	XM_017025387.2:c.439+3046_439+3052del	XM_017025387.2:c.439+3050_439+3052del	XM_017025387.2:c.439+3051_439+3052del	XM_017025387.2:c.439+3052del	XM_017025387.2:c.439+3052dup	XM_017025387.2:c.439+3051_439+3052dup	XM_017025387.2:c.439+3050_439+3052dup	XM_017025387.2:c.439+3048_439+3052dup	XM_017025387.2:c.439+3047_439+3052dup	XM_017025387.2:c.439+3046_439+3052dup	XM_017025387.2:c.439+3045_439+3052dup	XM_017025387.2:c.439+3042_439+3052dup	XM_017025387.2:c.439+3040_439+3052dup
GOSR2 transcript variant X21	XM_017025389.2:c.529+3037=	XM_017025389.2:c.529+3046_529+3052del	XM_017025389.2:c.529+3050_529+3052del	XM_017025389.2:c.529+3051_529+3052del	XM_017025389.2:c.529+3052del	XM_017025389.2:c.529+3052dup	XM_017025389.2:c.529+3051_529+3052dup	XM_017025389.2:c.529+3050_529+3052dup	XM_017025389.2:c.529+3048_529+3052dup	XM_017025389.2:c.529+3047_529+3052dup	XM_017025389.2:c.529+3046_529+3052dup	XM_017025389.2:c.529+3045_529+3052dup	XM_017025389.2:c.529+3042_529+3052dup	XM_017025389.2:c.529+3040_529+3052dup
GOSR2 transcript variant X10	XM_017025392.2:c.442+3037=	XM_017025392.2:c.442+3046_442+3052del	XM_017025392.2:c.442+3050_442+3052del	XM_017025392.2:c.442+3051_442+3052del	XM_017025392.2:c.442+3052del	XM_017025392.2:c.442+3052dup	XM_017025392.2:c.442+3051_442+3052dup	XM_017025392.2:c.442+3050_442+3052dup	XM_017025392.2:c.442+3048_442+3052dup	XM_017025392.2:c.442+3047_442+3052dup	XM_017025392.2:c.442+3046_442+3052dup	XM_017025392.2:c.442+3045_442+3052dup	XM_017025392.2:c.442+3042_442+3052dup	XM_017025392.2:c.442+3040_442+3052dup
LRRC37A2 transcript variant X16	XM_024450773.2:c.4810-107315=	XM_024450773.2:c.4810-107306_4810-107300del	XM_024450773.2:c.4810-107302_4810-107300del	XM_024450773.2:c.4810-107301_4810-107300del	XM_024450773.2:c.4810-107300del	XM_024450773.2:c.4810-107300dup	XM_024450773.2:c.4810-107301_4810-107300dup	XM_024450773.2:c.4810-107302_4810-107300dup	XM_024450773.2:c.4810-107304_4810-107300dup	XM_024450773.2:c.4810-107305_4810-107300dup	XM_024450773.2:c.4810-107306_4810-107300dup	XM_024450773.2:c.4810-107307_4810-107300dup	XM_024450773.2:c.4810-107310_4810-107300dup	XM_024450773.2:c.4810-107312_4810-107300dup
GOSR2 transcript variant X12	XM_047437112.1:c.583+3037=	XM_047437112.1:c.583+3046_583+3052del	XM_047437112.1:c.583+3050_583+3052del	XM_047437112.1:c.583+3051_583+3052del	XM_047437112.1:c.583+3052del	XM_047437112.1:c.583+3052dup	XM_047437112.1:c.583+3051_583+3052dup	XM_047437112.1:c.583+3050_583+3052dup	XM_047437112.1:c.583+3048_583+3052dup	XM_047437112.1:c.583+3047_583+3052dup	XM_047437112.1:c.583+3046_583+3052dup	XM_047437112.1:c.583+3045_583+3052dup	XM_047437112.1:c.583+3042_583+3052dup	XM_047437112.1:c.583+3040_583+3052dup
GOSR2 transcript variant X15	XM_047437113.1:c.580+3037=	XM_047437113.1:c.580+3046_580+3052del	XM_047437113.1:c.580+3050_580+3052del	XM_047437113.1:c.580+3051_580+3052del	XM_047437113.1:c.580+3052del	XM_047437113.1:c.580+3052dup	XM_047437113.1:c.580+3051_580+3052dup	XM_047437113.1:c.580+3050_580+3052dup	XM_047437113.1:c.580+3048_580+3052dup	XM_047437113.1:c.580+3047_580+3052dup	XM_047437113.1:c.580+3046_580+3052dup	XM_047437113.1:c.580+3045_580+3052dup	XM_047437113.1:c.580+3042_580+3052dup	XM_047437113.1:c.580+3040_580+3052dup
GOSR2 transcript variant X16	XM_047437114.1:c.529+3037=	XM_047437114.1:c.529+3046_529+3052del	XM_047437114.1:c.529+3050_529+3052del	XM_047437114.1:c.529+3051_529+3052del	XM_047437114.1:c.529+3052del	XM_047437114.1:c.529+3052dup	XM_047437114.1:c.529+3051_529+3052dup	XM_047437114.1:c.529+3050_529+3052dup	XM_047437114.1:c.529+3048_529+3052dup	XM_047437114.1:c.529+3047_529+3052dup	XM_047437114.1:c.529+3046_529+3052dup	XM_047437114.1:c.529+3045_529+3052dup	XM_047437114.1:c.529+3042_529+3052dup	XM_047437114.1:c.529+3040_529+3052dup
GOSR2 transcript variant X17	XM_047437115.1:c.526+3037=	XM_047437115.1:c.526+3046_526+3052del	XM_047437115.1:c.526+3050_526+3052del	XM_047437115.1:c.526+3051_526+3052del	XM_047437115.1:c.526+3052del	XM_047437115.1:c.526+3052dup	XM_047437115.1:c.526+3051_526+3052dup	XM_047437115.1:c.526+3050_526+3052dup	XM_047437115.1:c.526+3048_526+3052dup	XM_047437115.1:c.526+3047_526+3052dup	XM_047437115.1:c.526+3046_526+3052dup	XM_047437115.1:c.526+3045_526+3052dup	XM_047437115.1:c.526+3042_526+3052dup	XM_047437115.1:c.526+3040_526+3052dup
GOSR2 transcript variant X2	XM_047437116.1:c.583+3037=	XM_047437116.1:c.583+3046_583+3052del	XM_047437116.1:c.583+3050_583+3052del	XM_047437116.1:c.583+3051_583+3052del	XM_047437116.1:c.583+3052del	XM_047437116.1:c.583+3052dup	XM_047437116.1:c.583+3051_583+3052dup	XM_047437116.1:c.583+3050_583+3052dup	XM_047437116.1:c.583+3048_583+3052dup	XM_047437116.1:c.583+3047_583+3052dup	XM_047437116.1:c.583+3046_583+3052dup	XM_047437116.1:c.583+3045_583+3052dup	XM_047437116.1:c.583+3042_583+3052dup	XM_047437116.1:c.583+3040_583+3052dup
GOSR2 transcript variant X18	XM_047437117.1:c.442+3037=	XM_047437117.1:c.442+3046_442+3052del	XM_047437117.1:c.442+3050_442+3052del	XM_047437117.1:c.442+3051_442+3052del	XM_047437117.1:c.442+3052del	XM_047437117.1:c.442+3052dup	XM_047437117.1:c.442+3051_442+3052dup	XM_047437117.1:c.442+3050_442+3052dup	XM_047437117.1:c.442+3048_442+3052dup	XM_047437117.1:c.442+3047_442+3052dup	XM_047437117.1:c.442+3046_442+3052dup	XM_047437117.1:c.442+3045_442+3052dup	XM_047437117.1:c.442+3042_442+3052dup	XM_047437117.1:c.442+3040_442+3052dup
GOSR2 transcript variant X19	XM_047437118.1:c.439+3037=	XM_047437118.1:c.439+3046_439+3052del	XM_047437118.1:c.439+3050_439+3052del	XM_047437118.1:c.439+3051_439+3052del	XM_047437118.1:c.439+3052del	XM_047437118.1:c.439+3052dup	XM_047437118.1:c.439+3051_439+3052dup	XM_047437118.1:c.439+3050_439+3052dup	XM_047437118.1:c.439+3048_439+3052dup	XM_047437118.1:c.439+3047_439+3052dup	XM_047437118.1:c.439+3046_439+3052dup	XM_047437118.1:c.439+3045_439+3052dup	XM_047437118.1:c.439+3042_439+3052dup	XM_047437118.1:c.439+3040_439+3052dup
GOSR2 transcript variant X7	XM_047437119.1:c.583+3037=	XM_047437119.1:c.583+3046_583+3052del	XM_047437119.1:c.583+3050_583+3052del	XM_047437119.1:c.583+3051_583+3052del	XM_047437119.1:c.583+3052del	XM_047437119.1:c.583+3052dup	XM_047437119.1:c.583+3051_583+3052dup	XM_047437119.1:c.583+3050_583+3052dup	XM_047437119.1:c.583+3048_583+3052dup	XM_047437119.1:c.583+3047_583+3052dup	XM_047437119.1:c.583+3046_583+3052dup	XM_047437119.1:c.583+3045_583+3052dup	XM_047437119.1:c.583+3042_583+3052dup	XM_047437119.1:c.583+3040_583+3052dup
GOSR2 transcript variant X11	XM_047437120.1:c.442+3037=	XM_047437120.1:c.442+3046_442+3052del	XM_047437120.1:c.442+3050_442+3052del	XM_047437120.1:c.442+3051_442+3052del	XM_047437120.1:c.442+3052del	XM_047437120.1:c.442+3052dup	XM_047437120.1:c.442+3051_442+3052dup	XM_047437120.1:c.442+3050_442+3052dup	XM_047437120.1:c.442+3048_442+3052dup	XM_047437120.1:c.442+3047_442+3052dup	XM_047437120.1:c.442+3046_442+3052dup	XM_047437120.1:c.442+3045_442+3052dup	XM_047437120.1:c.442+3042_442+3052dup	XM_047437120.1:c.442+3040_442+3052dup

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#.

41 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	GMI	ss289327382	May 04, 2012 (137)
2	SSIP	ss947369906	Aug 21, 2014 (142)
3	1000GENOMES	ss1376680455	Aug 21, 2014 (142)
4	EVA_GENOME_DK	ss1575054449	Apr 01, 2015 (144)
5	SWEGEN	ss3015586031	Nov 08, 2017 (151)
6	EVA_DECODE	ss3700524077	Jul 13, 2019 (153)
7	EVA_DECODE	ss3700524078	Jul 13, 2019 (153)
8	EVA_DECODE	ss3700524079	Jul 13, 2019 (153)
9	EVA_DECODE	ss3700524080	Jul 13, 2019 (153)
10	EVA_DECODE	ss3700524081	Jul 13, 2019 (153)
11	ACPOP	ss3742050576	Jul 13, 2019 (153)
12	ACPOP	ss3742050577	Jul 13, 2019 (153)
13	PACBIO	ss3788215259	Jul 13, 2019 (153)
14	KHV_HUMAN_GENOMES	ss3819968119	Jul 13, 2019 (153)
15	EVA	ss3834882421	Apr 27, 2020 (154)
16	GNOMAD	ss4312130738	Apr 27, 2021 (155)
17	GNOMAD	ss4312130739	Apr 27, 2021 (155)
18	GNOMAD	ss4312130740	Apr 27, 2021 (155)
19	GNOMAD	ss4312130741	Apr 27, 2021 (155)
20	GNOMAD	ss4312130742	Apr 27, 2021 (155)
21	GNOMAD	ss4312130743	Apr 27, 2021 (155)
22	GNOMAD	ss4312130744	Apr 27, 2021 (155)
23	GNOMAD	ss4312130745	Apr 27, 2021 (155)
24	GNOMAD	ss4312130746	Apr 27, 2021 (155)
25	GNOMAD	ss4312130747	Apr 27, 2021 (155)
26	TOMMO_GENOMICS	ss5222563307	Apr 27, 2021 (155)
27	TOMMO_GENOMICS	ss5222563308	Apr 27, 2021 (155)
28	TOMMO_GENOMICS	ss5222563309	Apr 27, 2021 (155)
29	1000G_HIGH_COVERAGE	ss5303236260	Oct 16, 2022 (156)
30	1000G_HIGH_COVERAGE	ss5303236261	Oct 16, 2022 (156)
31	1000G_HIGH_COVERAGE	ss5303236262	Oct 16, 2022 (156)
32	1000G_HIGH_COVERAGE	ss5303236263	Oct 16, 2022 (156)
33	1000G_HIGH_COVERAGE	ss5303236264	Oct 16, 2022 (156)
34	HUGCELL_USP	ss5496275159	Oct 16, 2022 (156)
35	HUGCELL_USP	ss5496275160	Oct 16, 2022 (156)
36	HUGCELL_USP	ss5496275161	Oct 16, 2022 (156)
37	HUGCELL_USP	ss5496275162	Oct 16, 2022 (156)
38	TOMMO_GENOMICS	ss5778821228	Oct 16, 2022 (156)
39	TOMMO_GENOMICS	ss5778821229	Oct 16, 2022 (156)
40	TOMMO_GENOMICS	ss5778821230	Oct 16, 2022 (156)
41	EVA	ss5851817224	Oct 16, 2022 (156)
42	1000Genomes	NC_000017.10 - 45019107	Oct 12, 2018 (152)
43	The Danish reference pan genome	NC_000017.10 - 45019107	Apr 27, 2020 (154)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 508105476 (NC_000017.11:46941740::T 5039/130352) Row 508105477 (NC_000017.11:46941740::TT 3896/130370) Row 508105478 (NC_000017.11:46941740::TTT 19/130408)...	-	Apr 27, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 508105476 (NC_000017.11:46941740::T 5039/130352) Row 508105477 (NC_000017.11:46941740::TT 3896/130370) Row 508105478 (NC_000017.11:46941740::TTT 19/130408)...	-	Apr 27, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 508105476 (NC_000017.11:46941740::T 5039/130352) Row 508105477 (NC_000017.11:46941740::TT 3896/130370) Row 508105478 (NC_000017.11:46941740::TTT 19/130408)...	-	Apr 27, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 508105476 (NC_000017.11:46941740::T 5039/130352) Row 508105477 (NC_000017.11:46941740::TT 3896/130370) Row 508105478 (NC_000017.11:46941740::TTT 19/130408)...	-	Apr 27, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 508105476 (NC_000017.11:46941740::T 5039/130352) Row 508105477 (NC_000017.11:46941740::TT 3896/130370) Row 508105478 (NC_000017.11:46941740::TTT 19/130408)...	-	Apr 27, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 508105476 (NC_000017.11:46941740::T 5039/130352) Row 508105477 (NC_000017.11:46941740::TT 3896/130370) Row 508105478 (NC_000017.11:46941740::TTT 19/130408)...	-	Apr 27, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 508105476 (NC_000017.11:46941740::T 5039/130352) Row 508105477 (NC_000017.11:46941740::TT 3896/130370) Row 508105478 (NC_000017.11:46941740::TTT 19/130408)...	-	Apr 27, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 508105476 (NC_000017.11:46941740::T 5039/130352) Row 508105477 (NC_000017.11:46941740::TT 3896/130370) Row 508105478 (NC_000017.11:46941740::TTT 19/130408)...	-	Apr 27, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 508105476 (NC_000017.11:46941740::T 5039/130352) Row 508105477 (NC_000017.11:46941740::TT 3896/130370) Row 508105478 (NC_000017.11:46941740::TTT 19/130408)...	-	Apr 27, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 508105476 (NC_000017.11:46941740::T 5039/130352) Row 508105477 (NC_000017.11:46941740::TT 3896/130370) Row 508105478 (NC_000017.11:46941740::TTT 19/130408)...	-	Apr 27, 2021 (155)
54	Northern Sweden Submission ignored due to conflicting rows: Row 15335441 (NC_000017.10:45019106:T: 45/600) Row 15335442 (NC_000017.10:45019106::T 9/600)	-	Jul 13, 2019 (153)
55	Northern Sweden Submission ignored due to conflicting rows: Row 15335441 (NC_000017.10:45019106:T: 45/600) Row 15335442 (NC_000017.10:45019106::T 9/600)	-	Jul 13, 2019 (153)
56	8.3KJPN Submission ignored due to conflicting rows: Row 80532614 (NC_000017.10:45019106::T 1034/16758) Row 80532615 (NC_000017.10:45019106:T: 20/16758) Row 80532616 (NC_000017.10:45019106::TT 2/16758)	-	Apr 27, 2021 (155)
57	8.3KJPN Submission ignored due to conflicting rows: Row 80532614 (NC_000017.10:45019106::T 1034/16758) Row 80532615 (NC_000017.10:45019106:T: 20/16758) Row 80532616 (NC_000017.10:45019106::TT 2/16758)	-	Apr 27, 2021 (155)
58	8.3KJPN Submission ignored due to conflicting rows: Row 80532614 (NC_000017.10:45019106::T 1034/16758) Row 80532615 (NC_000017.10:45019106:T: 20/16758) Row 80532616 (NC_000017.10:45019106::TT 2/16758)	-	Apr 27, 2021 (155)
59	14KJPN Submission ignored due to conflicting rows: Row 112658332 (NC_000017.11:46941740::T 1669/28238) Row 112658333 (NC_000017.11:46941740:T: 21/28238) Row 112658334 (NC_000017.11:46941740::TT 4/28238)	-	Oct 16, 2022 (156)
60	14KJPN Submission ignored due to conflicting rows: Row 112658332 (NC_000017.11:46941740::T 1669/28238) Row 112658333 (NC_000017.11:46941740:T: 21/28238) Row 112658334 (NC_000017.11:46941740::TT 4/28238)	-	Oct 16, 2022 (156)
61	14KJPN Submission ignored due to conflicting rows: Row 112658332 (NC_000017.11:46941740::T 1669/28238) Row 112658333 (NC_000017.11:46941740:T: 21/28238) Row 112658334 (NC_000017.11:46941740::TT 4/28238)	-	Oct 16, 2022 (156)
62	ALFA	NC_000017.11 - 46941741	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
5855380894	NC_000017.11:46941740:TTTTTTTTTTTT… NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTT	NC_000017.11:46941740:TTTTTTTTTTTT… NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTT	(self)
ss4312130747	NC_000017.11:46941740:TTT:	NC_000017.11:46941740:TTTTTTTTTTTT… NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3700524077, ss4312130746, ss5303236264	NC_000017.11:46941740:TT:	NC_000017.11:46941740:TTTTTTTTTTTT… NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
5855380894	NC_000017.11:46941740:TTTTTTTTTTTT… NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000017.11:46941740:TTTTTTTTTTTT… NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
72011317, 563561, ss1376680455, ss1575054449, ss3015586031, ss3742050576, ss3788215259, ss3834882421, ss5222563308	NC_000017.10:45019106:T:	NC_000017.11:46941740:TTTTTTTTTTTT… NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3819968119, ss4312130745, ss5303236262, ss5496275160, ss5778821229	NC_000017.11:46941740:T:	NC_000017.11:46941740:TTTTTTTTTTTT… NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
5855380894	NC_000017.11:46941740:TTTTTTTTTTTT… NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000017.11:46941740:TTTTTTTTTTTT… NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3700524078	NC_000017.11:46941741:T:	NC_000017.11:46941740:TTTTTTTTTTTT… NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss289327382	NC_000017.9:42374121::T	NC_000017.11:46941740:TTTTTTTTTTTT… NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3742050577, ss5222563307	NC_000017.10:45019106::T	NC_000017.11:46941740:TTTTTTTTTTTT… NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss947369906	NC_000017.10:45019107::T	NC_000017.11:46941740:TTTTTTTTTTTT… NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4312130738, ss5303236260, ss5496275159, ss5778821228, ss5851817224	NC_000017.11:46941740::T	NC_000017.11:46941740:TTTTTTTTTTTT… NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
5855380894	NC_000017.11:46941740:TTTTTTTTTTTT… NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000017.11:46941740:TTTTTTTTTTTT… NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3700524079	NC_000017.11:46941742::T	NC_000017.11:46941740:TTTTTTTTTTTT… NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss5222563309	NC_000017.10:45019106::TT	NC_000017.11:46941740:TTTTTTTTTTTT… NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4312130739, ss5303236261, ss5496275161, ss5778821230	NC_000017.11:46941740::TT	NC_000017.11:46941740:TTTTTTTTTTTT… NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
5855380894	NC_000017.11:46941740:TTTTTTTTTTTT… NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000017.11:46941740:TTTTTTTTTTTT… NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3700524080	NC_000017.11:46941742::TT	NC_000017.11:46941740:TTTTTTTTTTTT… NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4312130740, ss5303236263, ss5496275162	NC_000017.11:46941740::TTT	NC_000017.11:46941740:TTTTTTTTTTTT… NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
5855380894	NC_000017.11:46941740:TTTTTTTTTTTT… NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000017.11:46941740:TTTTTTTTTTTT… NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4312130741	NC_000017.11:46941740::TTTTT	NC_000017.11:46941740:TTTTTTTTTTTT… NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
5855380894	NC_000017.11:46941740:TTTTTTTTTTTT… NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000017.11:46941740:TTTTTTTTTTTT… NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4312130742	NC_000017.11:46941740::TTTTTT	NC_000017.11:46941740:TTTTTTTTTTTT… NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
5855380894	NC_000017.11:46941740:TTTTTTTTTTTT… NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000017.11:46941740:TTTTTTTTTTTT… NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss3700524081	NC_000017.11:46941742::TTTTTTT	NC_000017.11:46941740:TTTTTTTTTTTT… NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4312130743	NC_000017.11:46941740::TTTTTTTT	NC_000017.11:46941740:TTTTTTTTTTTT… NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
5855380894	NC_000017.11:46941740:TTTTTTTTTTTT… NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	NC_000017.11:46941740:TTTTTTTTTTTT… NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
5855380894	NC_000017.11:46941740:TTTTTTTTTTTT… NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000017.11:46941740:TTTTTTTTTTTT… NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4312130744	NC_000017.11:46941740::TTTTTTTTTTT… NC_000017.11:46941740::TTTTTTTTTTTTT	NC_000017.11:46941740:TTTTTTTTTTTT… NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(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 rs199529204

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

rs199529204