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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs71355710

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr17:51108387-51108404 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
del(A)5 / del(A)4 / delAAA / delAA…

del(A)5 / del(A)4 / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)17

Variation Type
Indel Insertion and Deletion
Frequency
delAAA=0.2214 (1109/5008, 1000G)
del(A)5=0.0000 (0/2570, ALFA)
del(A)4=0.0000 (0/2570, ALFA) (+ 5 more)
delAAA=0.0000 (0/2570, ALFA)
delAA=0.0000 (0/2570, ALFA)
delA=0.0000 (0/2570, ALFA)
dupA=0.0000 (0/2570, ALFA)
dupAA=0.0000 (0/2570, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SPAG9 : 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 2570 AAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
European Sub 1472 AAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Sub 826 AAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Others Sub 28 AAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African American Sub 798 AAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Asian Sub 22 AAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
East Asian Sub 20 AAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 2 AAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Latin American 1 Sub 32 AAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 92 AAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
South Asian Sub 24 AAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 102 AAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A


Help

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

Download
Study Population Group Sample Size Ref Allele Alt Allele
1000Genomes Global Study-wide 5008 (A)18=0.7786 delAAA=0.2214
1000Genomes African Sub 1322 (A)18=0.9206 delAAA=0.0794
1000Genomes East Asian Sub 1008 (A)18=0.7718 delAAA=0.2282
1000Genomes Europe Sub 1006 (A)18=0.7038 delAAA=0.2962
1000Genomes South Asian Sub 978 (A)18=0.756 delAAA=0.244
1000Genomes American Sub 694 (A)18=0.659 delAAA=0.341
Allele Frequency Aggregator Total Global 2570 (A)18=1.0000 del(A)5=0.0000, del(A)4=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000
Allele Frequency Aggregator European Sub 1472 (A)18=1.0000 del(A)5=0.0000, del(A)4=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000
Allele Frequency Aggregator African Sub 826 (A)18=1.000 del(A)5=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator Other Sub 102 (A)18=1.000 del(A)5=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator Latin American 2 Sub 92 (A)18=1.00 del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator Latin American 1 Sub 32 (A)18=1.00 del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator South Asian Sub 24 (A)18=1.00 del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator Asian Sub 22 (A)18=1.00 del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Help

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

Genomic Placements
Sequence name Change
GRCh38.p14 chr 17 NC_000017.11:g.51108400_51108404del
GRCh38.p14 chr 17 NC_000017.11:g.51108401_51108404del
GRCh38.p14 chr 17 NC_000017.11:g.51108402_51108404del
GRCh38.p14 chr 17 NC_000017.11:g.51108403_51108404del
GRCh38.p14 chr 17 NC_000017.11:g.51108404del
GRCh38.p14 chr 17 NC_000017.11:g.51108404dup
GRCh38.p14 chr 17 NC_000017.11:g.51108403_51108404dup
GRCh38.p14 chr 17 NC_000017.11:g.51108402_51108404dup
GRCh38.p14 chr 17 NC_000017.11:g.51108388_51108404dup
GRCh37.p13 chr 17 NC_000017.10:g.49185761_49185765del
GRCh37.p13 chr 17 NC_000017.10:g.49185762_49185765del
GRCh37.p13 chr 17 NC_000017.10:g.49185763_49185765del
GRCh37.p13 chr 17 NC_000017.10:g.49185764_49185765del
GRCh37.p13 chr 17 NC_000017.10:g.49185765del
GRCh37.p13 chr 17 NC_000017.10:g.49185765dup
GRCh37.p13 chr 17 NC_000017.10:g.49185764_49185765dup
GRCh37.p13 chr 17 NC_000017.10:g.49185763_49185765dup
GRCh37.p13 chr 17 NC_000017.10:g.49185749_49185765dup
SPAG9 RefSeqGene NG_029710.1:g.17475_17479del
SPAG9 RefSeqGene NG_029710.1:g.17476_17479del
SPAG9 RefSeqGene NG_029710.1:g.17477_17479del
SPAG9 RefSeqGene NG_029710.1:g.17478_17479del
SPAG9 RefSeqGene NG_029710.1:g.17479del
SPAG9 RefSeqGene NG_029710.1:g.17479dup
SPAG9 RefSeqGene NG_029710.1:g.17478_17479dup
SPAG9 RefSeqGene NG_029710.1:g.17477_17479dup
SPAG9 RefSeqGene NG_029710.1:g.17463_17479dup
Gene: SPAG9, sperm associated antigen 9 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
SPAG9 transcript variant 2 NM_001130527.3:c.303+1196…

NM_001130527.3:c.303+11963_303+11967del

N/A Intron Variant
SPAG9 transcript variant 1 NM_001130528.3:c.303+1196…

NM_001130528.3:c.303+11963_303+11967del

N/A Intron Variant
SPAG9 transcript variant 3 NM_003971.6:c.303+11963_3…

NM_003971.6:c.303+11963_303+11967del

N/A Intron Variant
SPAG9 transcript variant 4 NM_001251971.2:c. N/A Genic Upstream Transcript Variant
SPAG9 transcript variant X1 XM_005257768.3:c.303+1196…

XM_005257768.3:c.303+11963_303+11967del

N/A Intron Variant
SPAG9 transcript variant X2 XM_005257771.4:c.303+1196…

XM_005257771.4:c.303+11963_303+11967del

N/A Intron Variant
SPAG9 transcript variant X5 XM_005257774.5:c. N/A Genic Upstream Transcript Variant
SPAG9 transcript variant X3 XM_017025283.3:c. N/A Genic Upstream Transcript Variant
SPAG9 transcript variant X4 XM_017025284.3:c. N/A Genic Upstream Transcript Variant
SPAG9 transcript variant X6 XM_017025285.3:c. N/A Genic Upstream Transcript Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement (A)18= del(A)5 del(A)4 delAAA delAA delA dupA dupAA dupAAA dup(A)17
GRCh38.p14 chr 17 NC_000017.11:g.51108387_51108404= NC_000017.11:g.51108400_51108404del NC_000017.11:g.51108401_51108404del NC_000017.11:g.51108402_51108404del NC_000017.11:g.51108403_51108404del NC_000017.11:g.51108404del NC_000017.11:g.51108404dup NC_000017.11:g.51108403_51108404dup NC_000017.11:g.51108402_51108404dup NC_000017.11:g.51108388_51108404dup
GRCh37.p13 chr 17 NC_000017.10:g.49185748_49185765= NC_000017.10:g.49185761_49185765del NC_000017.10:g.49185762_49185765del NC_000017.10:g.49185763_49185765del NC_000017.10:g.49185764_49185765del NC_000017.10:g.49185765del NC_000017.10:g.49185765dup NC_000017.10:g.49185764_49185765dup NC_000017.10:g.49185763_49185765dup NC_000017.10:g.49185749_49185765dup
SPAG9 RefSeqGene NG_029710.1:g.17462_17479= NG_029710.1:g.17475_17479del NG_029710.1:g.17476_17479del NG_029710.1:g.17477_17479del NG_029710.1:g.17478_17479del NG_029710.1:g.17479del NG_029710.1:g.17479dup NG_029710.1:g.17478_17479dup NG_029710.1:g.17477_17479dup NG_029710.1:g.17463_17479dup
SPAG9 transcript variant 2 NM_001130527.2:c.303+11967= NM_001130527.2:c.303+11963_303+11967del NM_001130527.2:c.303+11964_303+11967del NM_001130527.2:c.303+11965_303+11967del NM_001130527.2:c.303+11966_303+11967del NM_001130527.2:c.303+11967del NM_001130527.2:c.303+11967dup NM_001130527.2:c.303+11966_303+11967dup NM_001130527.2:c.303+11965_303+11967dup NM_001130527.2:c.303+11951_303+11967dup
SPAG9 transcript variant 2 NM_001130527.3:c.303+11967= NM_001130527.3:c.303+11963_303+11967del NM_001130527.3:c.303+11964_303+11967del NM_001130527.3:c.303+11965_303+11967del NM_001130527.3:c.303+11966_303+11967del NM_001130527.3:c.303+11967del NM_001130527.3:c.303+11967dup NM_001130527.3:c.303+11966_303+11967dup NM_001130527.3:c.303+11965_303+11967dup NM_001130527.3:c.303+11951_303+11967dup
SPAG9 transcript variant 1 NM_001130528.2:c.303+11967= NM_001130528.2:c.303+11963_303+11967del NM_001130528.2:c.303+11964_303+11967del NM_001130528.2:c.303+11965_303+11967del NM_001130528.2:c.303+11966_303+11967del NM_001130528.2:c.303+11967del NM_001130528.2:c.303+11967dup NM_001130528.2:c.303+11966_303+11967dup NM_001130528.2:c.303+11965_303+11967dup NM_001130528.2:c.303+11951_303+11967dup
SPAG9 transcript variant 1 NM_001130528.3:c.303+11967= NM_001130528.3:c.303+11963_303+11967del NM_001130528.3:c.303+11964_303+11967del NM_001130528.3:c.303+11965_303+11967del NM_001130528.3:c.303+11966_303+11967del NM_001130528.3:c.303+11967del NM_001130528.3:c.303+11967dup NM_001130528.3:c.303+11966_303+11967dup NM_001130528.3:c.303+11965_303+11967dup NM_001130528.3:c.303+11951_303+11967dup
SPAG9 transcript variant 3 NM_003971.5:c.303+11967= NM_003971.5:c.303+11963_303+11967del NM_003971.5:c.303+11964_303+11967del NM_003971.5:c.303+11965_303+11967del NM_003971.5:c.303+11966_303+11967del NM_003971.5:c.303+11967del NM_003971.5:c.303+11967dup NM_003971.5:c.303+11966_303+11967dup NM_003971.5:c.303+11965_303+11967dup NM_003971.5:c.303+11951_303+11967dup
SPAG9 transcript variant 3 NM_003971.6:c.303+11967= NM_003971.6:c.303+11963_303+11967del NM_003971.6:c.303+11964_303+11967del NM_003971.6:c.303+11965_303+11967del NM_003971.6:c.303+11966_303+11967del NM_003971.6:c.303+11967del NM_003971.6:c.303+11967dup NM_003971.6:c.303+11966_303+11967dup NM_003971.6:c.303+11965_303+11967dup NM_003971.6:c.303+11951_303+11967dup
SPAG9 transcript variant X1 XM_005257767.1:c.303+11967= XM_005257767.1:c.303+11963_303+11967del XM_005257767.1:c.303+11964_303+11967del XM_005257767.1:c.303+11965_303+11967del XM_005257767.1:c.303+11966_303+11967del XM_005257767.1:c.303+11967del XM_005257767.1:c.303+11967dup XM_005257767.1:c.303+11966_303+11967dup XM_005257767.1:c.303+11965_303+11967dup XM_005257767.1:c.303+11951_303+11967dup
SPAG9 transcript variant X2 XM_005257768.1:c.303+11967= XM_005257768.1:c.303+11963_303+11967del XM_005257768.1:c.303+11964_303+11967del XM_005257768.1:c.303+11965_303+11967del XM_005257768.1:c.303+11966_303+11967del XM_005257768.1:c.303+11967del XM_005257768.1:c.303+11967dup XM_005257768.1:c.303+11966_303+11967dup XM_005257768.1:c.303+11965_303+11967dup XM_005257768.1:c.303+11951_303+11967dup
SPAG9 transcript variant X1 XM_005257768.3:c.303+11967= XM_005257768.3:c.303+11963_303+11967del XM_005257768.3:c.303+11964_303+11967del XM_005257768.3:c.303+11965_303+11967del XM_005257768.3:c.303+11966_303+11967del XM_005257768.3:c.303+11967del XM_005257768.3:c.303+11967dup XM_005257768.3:c.303+11966_303+11967dup XM_005257768.3:c.303+11965_303+11967dup XM_005257768.3:c.303+11951_303+11967dup
SPAG9 transcript variant X3 XM_005257769.1:c.303+11967= XM_005257769.1:c.303+11963_303+11967del XM_005257769.1:c.303+11964_303+11967del XM_005257769.1:c.303+11965_303+11967del XM_005257769.1:c.303+11966_303+11967del XM_005257769.1:c.303+11967del XM_005257769.1:c.303+11967dup XM_005257769.1:c.303+11966_303+11967dup XM_005257769.1:c.303+11965_303+11967dup XM_005257769.1:c.303+11951_303+11967dup
SPAG9 transcript variant X4 XM_005257770.1:c.303+11967= XM_005257770.1:c.303+11963_303+11967del XM_005257770.1:c.303+11964_303+11967del XM_005257770.1:c.303+11965_303+11967del XM_005257770.1:c.303+11966_303+11967del XM_005257770.1:c.303+11967del XM_005257770.1:c.303+11967dup XM_005257770.1:c.303+11966_303+11967dup XM_005257770.1:c.303+11965_303+11967dup XM_005257770.1:c.303+11951_303+11967dup
SPAG9 transcript variant X5 XM_005257771.1:c.303+11967= XM_005257771.1:c.303+11963_303+11967del XM_005257771.1:c.303+11964_303+11967del XM_005257771.1:c.303+11965_303+11967del XM_005257771.1:c.303+11966_303+11967del XM_005257771.1:c.303+11967del XM_005257771.1:c.303+11967dup XM_005257771.1:c.303+11966_303+11967dup XM_005257771.1:c.303+11965_303+11967dup XM_005257771.1:c.303+11951_303+11967dup
SPAG9 transcript variant X2 XM_005257771.4:c.303+11967= XM_005257771.4:c.303+11963_303+11967del XM_005257771.4:c.303+11964_303+11967del XM_005257771.4:c.303+11965_303+11967del XM_005257771.4:c.303+11966_303+11967del XM_005257771.4:c.303+11967del XM_005257771.4:c.303+11967dup XM_005257771.4:c.303+11966_303+11967dup XM_005257771.4:c.303+11965_303+11967dup XM_005257771.4:c.303+11951_303+11967dup
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

56 SubSNP, 26 Frequency submissions
No Submitter Submission ID Date (Build)
1 HUMANGENOME_JCVI ss96568913 Feb 13, 2009 (130)
2 SSMP ss664362138 Apr 01, 2015 (144)
3 SSIP ss947370652 Aug 21, 2014 (142)
4 1000GENOMES ss1376716747 Aug 21, 2014 (142)
5 EVA_UK10K_ALSPAC ss1708781864 Apr 01, 2015 (144)
6 EVA_UK10K_TWINSUK ss1708781885 Apr 01, 2015 (144)
7 EVA_UK10K_ALSPAC ss1710734818 Apr 01, 2015 (144)
8 EVA_UK10K_TWINSUK ss1710734825 Apr 01, 2015 (144)
9 SYSTEMSBIOZJU ss2629039748 Nov 08, 2017 (151)
10 SWEGEN ss3015633093 Nov 08, 2017 (151)
11 MCHAISSO ss3064713977 Nov 08, 2017 (151)
12 EVA_DECODE ss3700581275 Jul 13, 2019 (153)
13 EVA_DECODE ss3700581276 Jul 13, 2019 (153)
14 EVA_DECODE ss3700581277 Jul 13, 2019 (153)
15 EVA_DECODE ss3700581278 Jul 13, 2019 (153)
16 EVA_DECODE ss3700581279 Jul 13, 2019 (153)
17 ACPOP ss3742074820 Jul 13, 2019 (153)
18 ACPOP ss3742074821 Jul 13, 2019 (153)
19 ACPOP ss3742074822 Jul 13, 2019 (153)
20 INMEGENXS ss3745621353 Jul 13, 2019 (153)
21 KHV_HUMAN_GENOMES ss3820000074 Jul 13, 2019 (153)
22 EVA ss3834896166 Apr 27, 2020 (154)
23 EVA ss3846557354 Apr 27, 2020 (154)
24 GNOMAD ss4312640728 Apr 27, 2021 (155)
25 GNOMAD ss4312640729 Apr 27, 2021 (155)
26 GNOMAD ss4312640730 Apr 27, 2021 (155)
27 GNOMAD ss4312640731 Apr 27, 2021 (155)
28 GNOMAD ss4312640732 Apr 27, 2021 (155)
29 GNOMAD ss4312640733 Apr 27, 2021 (155)
30 GNOMAD ss4312640734 Apr 27, 2021 (155)
31 GNOMAD ss4312640735 Apr 27, 2021 (155)
32 GNOMAD ss4312640736 Apr 27, 2021 (155)
33 TOMMO_GENOMICS ss5222701440 Apr 27, 2021 (155)
34 TOMMO_GENOMICS ss5222701441 Apr 27, 2021 (155)
35 TOMMO_GENOMICS ss5222701442 Apr 27, 2021 (155)
36 TOMMO_GENOMICS ss5222701443 Apr 27, 2021 (155)
37 1000G_HIGH_COVERAGE ss5303335616 Oct 16, 2022 (156)
38 1000G_HIGH_COVERAGE ss5303335617 Oct 16, 2022 (156)
39 1000G_HIGH_COVERAGE ss5303335618 Oct 16, 2022 (156)
40 1000G_HIGH_COVERAGE ss5303335619 Oct 16, 2022 (156)
41 1000G_HIGH_COVERAGE ss5303335620 Oct 16, 2022 (156)
42 1000G_HIGH_COVERAGE ss5303335621 Oct 16, 2022 (156)
43 HUGCELL_USP ss5496362149 Oct 16, 2022 (156)
44 HUGCELL_USP ss5496362150 Oct 16, 2022 (156)
45 HUGCELL_USP ss5496362151 Oct 16, 2022 (156)
46 HUGCELL_USP ss5496362152 Oct 16, 2022 (156)
47 HUGCELL_USP ss5496362153 Oct 16, 2022 (156)
48 TOMMO_GENOMICS ss5779003774 Oct 16, 2022 (156)
49 TOMMO_GENOMICS ss5779003775 Oct 16, 2022 (156)
50 TOMMO_GENOMICS ss5779003776 Oct 16, 2022 (156)
51 TOMMO_GENOMICS ss5779003778 Oct 16, 2022 (156)
52 EVA ss5834062338 Oct 16, 2022 (156)
53 EVA ss5834062339 Oct 16, 2022 (156)
54 EVA ss5851828398 Oct 16, 2022 (156)
55 EVA ss5914154177 Oct 16, 2022 (156)
56 EVA ss5980972404 Oct 16, 2022 (156)
57 1000Genomes NC_000017.10 - 49185748 Oct 12, 2018 (152)
58 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 39967582 (NC_000017.10:49185748:AA: 1946/3854)
Row 39967583 (NC_000017.10:49185747:AAAA: 300/3854)

- Oct 12, 2018 (152)
59 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 39967582 (NC_000017.10:49185748:AA: 1946/3854)
Row 39967583 (NC_000017.10:49185747:AAAA: 300/3854)

- Oct 12, 2018 (152)
60 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 508949745 (NC_000017.11:51108386::A 7942/109510)
Row 508949746 (NC_000017.11:51108386::AA 32/109634)
Row 508949747 (NC_000017.11:51108386::AAA 1/109648)...

- Apr 27, 2021 (155)
61 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 508949745 (NC_000017.11:51108386::A 7942/109510)
Row 508949746 (NC_000017.11:51108386::AA 32/109634)
Row 508949747 (NC_000017.11:51108386::AAA 1/109648)...

- Apr 27, 2021 (155)
62 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 508949745 (NC_000017.11:51108386::A 7942/109510)
Row 508949746 (NC_000017.11:51108386::AA 32/109634)
Row 508949747 (NC_000017.11:51108386::AAA 1/109648)...

- Apr 27, 2021 (155)
63 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 508949745 (NC_000017.11:51108386::A 7942/109510)
Row 508949746 (NC_000017.11:51108386::AA 32/109634)
Row 508949747 (NC_000017.11:51108386::AAA 1/109648)...

- Apr 27, 2021 (155)
64 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 508949745 (NC_000017.11:51108386::A 7942/109510)
Row 508949746 (NC_000017.11:51108386::AA 32/109634)
Row 508949747 (NC_000017.11:51108386::AAA 1/109648)...

- Apr 27, 2021 (155)
65 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 508949745 (NC_000017.11:51108386::A 7942/109510)
Row 508949746 (NC_000017.11:51108386::AA 32/109634)
Row 508949747 (NC_000017.11:51108386::AAA 1/109648)...

- Apr 27, 2021 (155)
66 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 508949745 (NC_000017.11:51108386::A 7942/109510)
Row 508949746 (NC_000017.11:51108386::AA 32/109634)
Row 508949747 (NC_000017.11:51108386::AAA 1/109648)...

- Apr 27, 2021 (155)
67 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 508949745 (NC_000017.11:51108386::A 7942/109510)
Row 508949746 (NC_000017.11:51108386::AA 32/109634)
Row 508949747 (NC_000017.11:51108386::AAA 1/109648)...

- Apr 27, 2021 (155)
68 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 508949745 (NC_000017.11:51108386::A 7942/109510)
Row 508949746 (NC_000017.11:51108386::AA 32/109634)
Row 508949747 (NC_000017.11:51108386::AAA 1/109648)...

- Apr 27, 2021 (155)
69 Northern Sweden

Submission ignored due to conflicting rows:
Row 15359685 (NC_000017.10:49185747:A: 126/512)
Row 15359686 (NC_000017.10:49185747:AAA: 143/512)
Row 15359687 (NC_000017.10:49185747:AAAA: 6/512)

- Jul 13, 2019 (153)
70 Northern Sweden

Submission ignored due to conflicting rows:
Row 15359685 (NC_000017.10:49185747:A: 126/512)
Row 15359686 (NC_000017.10:49185747:AAA: 143/512)
Row 15359687 (NC_000017.10:49185747:AAAA: 6/512)

- Jul 13, 2019 (153)
71 Northern Sweden

Submission ignored due to conflicting rows:
Row 15359685 (NC_000017.10:49185747:A: 126/512)
Row 15359686 (NC_000017.10:49185747:AAA: 143/512)
Row 15359687 (NC_000017.10:49185747:AAAA: 6/512)

- Jul 13, 2019 (153)
72 8.3KJPN

Submission ignored due to conflicting rows:
Row 80670747 (NC_000017.10:49185747:AAA: 2775/16722)
Row 80670748 (NC_000017.10:49185747::A 3599/16722)
Row 80670749 (NC_000017.10:49185747:A: 790/16722)...

- Apr 27, 2021 (155)
73 8.3KJPN

Submission ignored due to conflicting rows:
Row 80670747 (NC_000017.10:49185747:AAA: 2775/16722)
Row 80670748 (NC_000017.10:49185747::A 3599/16722)
Row 80670749 (NC_000017.10:49185747:A: 790/16722)...

- Apr 27, 2021 (155)
74 8.3KJPN

Submission ignored due to conflicting rows:
Row 80670747 (NC_000017.10:49185747:AAA: 2775/16722)
Row 80670748 (NC_000017.10:49185747::A 3599/16722)
Row 80670749 (NC_000017.10:49185747:A: 790/16722)...

- Apr 27, 2021 (155)
75 8.3KJPN

Submission ignored due to conflicting rows:
Row 80670747 (NC_000017.10:49185747:AAA: 2775/16722)
Row 80670748 (NC_000017.10:49185747::A 3599/16722)
Row 80670749 (NC_000017.10:49185747:A: 790/16722)...

- Apr 27, 2021 (155)
76 14KJPN

Submission ignored due to conflicting rows:
Row 112840878 (NC_000017.11:51108386:AAA: 4603/28254)
Row 112840879 (NC_000017.11:51108386::A 6132/28254)
Row 112840880 (NC_000017.11:51108386:A: 1383/28254)...

- Oct 16, 2022 (156)
77 14KJPN

Submission ignored due to conflicting rows:
Row 112840878 (NC_000017.11:51108386:AAA: 4603/28254)
Row 112840879 (NC_000017.11:51108386::A 6132/28254)
Row 112840880 (NC_000017.11:51108386:A: 1383/28254)...

- Oct 16, 2022 (156)
78 14KJPN

Submission ignored due to conflicting rows:
Row 112840878 (NC_000017.11:51108386:AAA: 4603/28254)
Row 112840879 (NC_000017.11:51108386::A 6132/28254)
Row 112840880 (NC_000017.11:51108386:A: 1383/28254)...

- Oct 16, 2022 (156)
79 14KJPN

Submission ignored due to conflicting rows:
Row 112840878 (NC_000017.11:51108386:AAA: 4603/28254)
Row 112840879 (NC_000017.11:51108386::A 6132/28254)
Row 112840880 (NC_000017.11:51108386:A: 1383/28254)...

- Oct 16, 2022 (156)
80 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 39967582 (NC_000017.10:49185748:AA: 1836/3708)
Row 39967583 (NC_000017.10:49185747:AAAA: 266/3708)

- Oct 12, 2018 (152)
81 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 39967582 (NC_000017.10:49185748:AA: 1836/3708)
Row 39967583 (NC_000017.10:49185747:AAAA: 266/3708)

- Oct 12, 2018 (152)
82 ALFA NC_000017.11 - 51108387 Apr 27, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3015633093 NC_000017.10:49185747:AAAAA: NC_000017.11:51108386:AAAAAAAAAAAA…

NC_000017.11:51108386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss4312640736 NC_000017.11:51108386:AAAAA: NC_000017.11:51108386:AAAAAAAAAAAA…

NC_000017.11:51108386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
10429942338 NC_000017.11:51108386:AAAAAAAAAAAA…

NC_000017.11:51108386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

NC_000017.11:51108386:AAAAAAAAAAAA…

NC_000017.11:51108386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss1708781864, ss1708781885, ss3742074822, ss5834062339 NC_000017.10:49185747:AAAA: NC_000017.11:51108386:AAAAAAAAAAAA…

NC_000017.11:51108386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss3064713977, ss3700581279, ss4312640735, ss5303335620, ss5496362153 NC_000017.11:51108386:AAAA: NC_000017.11:51108386:AAAAAAAAAAAA…

NC_000017.11:51108386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
10429942338 NC_000017.11:51108386:AAAAAAAAAAAA…

NC_000017.11:51108386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000017.11:51108386:AAAAAAAAAAAA…

NC_000017.11:51108386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
72125052, ss664362138, ss947370652, ss1376716747, ss2629039748, ss3742074821, ss3745621353, ss5222701440, ss5834062338 NC_000017.10:49185747:AAA: NC_000017.11:51108386:AAAAAAAAAAAA…

NC_000017.11:51108386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss1710734818, ss1710734825 NC_000017.10:49185748:AAA: NC_000017.11:51108386:AAAAAAAAAAAA…

NC_000017.11:51108386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3820000074, ss4312640734, ss5303335616, ss5496362151, ss5779003774, ss5851828398, ss5914154177 NC_000017.11:51108386:AAA: NC_000017.11:51108386:AAAAAAAAAAAA…

NC_000017.11:51108386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
10429942338 NC_000017.11:51108386:AAAAAAAAAAAA…

NC_000017.11:51108386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000017.11:51108386:AAAAAAAAAAAA…

NC_000017.11:51108386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3700581278 NC_000017.11:51108387:AAA: NC_000017.11:51108386:AAAAAAAAAAAA…

NC_000017.11:51108386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss96568913 NT_010783.15:14459899:AAA: NC_000017.11:51108386:AAAAAAAAAAAA…

NC_000017.11:51108386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss5980972404 NC_000017.10:49185747:AA: NC_000017.11:51108386:AAAAAAAAAAAA…

NC_000017.11:51108386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000017.10:49185748:AA: NC_000017.11:51108386:AAAAAAAAAAAA…

NC_000017.11:51108386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss4312640733, ss5303335619, ss5496362149 NC_000017.11:51108386:AA: NC_000017.11:51108386:AAAAAAAAAAAA…

NC_000017.11:51108386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
10429942338 NC_000017.11:51108386:AAAAAAAAAAAA…

NC_000017.11:51108386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000017.11:51108386:AAAAAAAAAAAA…

NC_000017.11:51108386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3700581277 NC_000017.11:51108388:AA: NC_000017.11:51108386:AAAAAAAAAAAA…

NC_000017.11:51108386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3742074820, ss3834896166, ss5222701442 NC_000017.10:49185747:A: NC_000017.11:51108386:AAAAAAAAAAAA…

NC_000017.11:51108386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3846557354, ss4312640732, ss5303335618, ss5496362150, ss5779003776 NC_000017.11:51108386:A: NC_000017.11:51108386:AAAAAAAAAAAA…

NC_000017.11:51108386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
10429942338 NC_000017.11:51108386:AAAAAAAAAAAA…

NC_000017.11:51108386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000017.11:51108386:AAAAAAAAAAAA…

NC_000017.11:51108386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3700581276 NC_000017.11:51108389:A: NC_000017.11:51108386:AAAAAAAAAAAA…

NC_000017.11:51108386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss5222701441 NC_000017.10:49185747::A NC_000017.11:51108386:AAAAAAAAAAAA…

NC_000017.11:51108386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss4312640728, ss5303335617, ss5496362152, ss5779003775 NC_000017.11:51108386::A NC_000017.11:51108386:AAAAAAAAAAAA…

NC_000017.11:51108386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
10429942338 NC_000017.11:51108386:AAAAAAAAAAAA…

NC_000017.11:51108386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000017.11:51108386:AAAAAAAAAAAA…

NC_000017.11:51108386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss3700581275 NC_000017.11:51108390::A NC_000017.11:51108386:AAAAAAAAAAAA…

NC_000017.11:51108386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss5222701443 NC_000017.10:49185747::AA NC_000017.11:51108386:AAAAAAAAAAAA…

NC_000017.11:51108386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss4312640729, ss5303335621, ss5779003778 NC_000017.11:51108386::AA NC_000017.11:51108386:AAAAAAAAAAAA…

NC_000017.11:51108386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
10429942338 NC_000017.11:51108386:AAAAAAAAAAAA…

NC_000017.11:51108386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000017.11:51108386:AAAAAAAAAAAA…

NC_000017.11:51108386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss4312640730 NC_000017.11:51108386::AAA NC_000017.11:51108386:AAAAAAAAAAAA…

NC_000017.11:51108386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss4312640731 NC_000017.11:51108386::AAAAAAAAAAA…

NC_000017.11:51108386::AAAAAAAAAAAAAAAAA

NC_000017.11:51108386:AAAAAAAAAAAA…

NC_000017.11:51108386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
Help

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

No publications for rs71355710

Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post820+afb47a3d