SNP Links for Gene (Select 110117498) - SNP

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Items: 1 to 20 of 874

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Select item 14913831041.

rs1491383104 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:46178353 (GRCh38)
1:46644026 (GRCh37)
Canonical SPDI:: NC_000001.11:46178353:C:CC
Gene:: TSPAN1 (Varview), P3R3URF (Varview), P3R3URF-PIK3R3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000506/57 (GnomAD)
HGVS:: NC_000001.11:g.46178354dup, NC_000001.10:g.46644026dup, NG_050949.1:g.3142dup

Select item 14913763332.

rs1491376333 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 1:46178353 (GRCh38)
1:46644025 (GRCh37)
Canonical SPDI:: NC_000001.11:46178352:TC:
Gene:: TSPAN1 (Varview), P3R3URF (Varview), P3R3URF-PIK3R3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0.0005/2 (ALFA)
HGVS:: NC_000001.11:g.46178353_46178354del, NC_000001.10:g.46644025_46644026del, NG_050949.1:g.3142_3143del

Select item 14888319533.

rs1488831953 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:46176393 (GRCh38)
1:46642065 (GRCh37)
Canonical SPDI:: NC_000001.11:46176392:G:A,NC_000001.11:46176392:G:T
Gene:: PIK3R3 (Varview), TSPAN1 (Varview), P3R3URF (Varview), P3R3URF-PIK3R3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.46176393G>A, NC_000001.11:g.46176393G>T, NC_000001.10:g.46642065G>A, NC_000001.10:g.46642065G>T, NG_050949.1:g.5103C>T, NG_050949.1:g.5103C>A, NM_001303427.2:c.79C>T, NM_001303427.2:c.79C>A, NM_001303427.1:c.79C>T, NM_001303427.1:c.79C>A, NM_001328655.2:c.79C>T, NM_001328655.2:c.79C>A, NM_001328655.1:c.79C>T, NM_001328655.1:c.79C>A, NP_001290356.1:p.Pro27Ser, NP_001290356.1:p.Pro27Thr, NP_001315584.1:p.Pro27Ser, NP_001315584.1:p.Pro27Thr

Select item 14881896944.

rs1488189694 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:46177908 (GRCh38)
1:46643580 (GRCh37)
Canonical SPDI:: NC_000001.11:46177907:A:G
Gene:: TSPAN1 (Varview), P3R3URF (Varview), P3R3URF-PIK3R3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.46177908A>G, NC_000001.10:g.46643580A>G, NG_050949.1:g.3588T>C

Select item 14879726845.

rs1487972684 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:46178084 (GRCh38)
1:46643756 (GRCh37)
Canonical SPDI:: NC_000001.11:46178083:C:T
Gene:: TSPAN1 (Varview), P3R3URF (Varview), P3R3URF-PIK3R3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.46178084C>T, NC_000001.10:g.46643756C>T, NG_050949.1:g.3412G>A

Select item 14878427506.

rs1487842750 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:46177238 (GRCh38)
1:46642910 (GRCh37)
Canonical SPDI:: NC_000001.11:46177237:G:A
Gene:: TSPAN1 (Varview), P3R3URF (Varview), P3R3URF-PIK3R3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.46177238G>A, NC_000001.10:g.46642910G>A, NG_050949.1:g.4258C>T

Select item 14874460597.

rs1487446059 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:46176772 (GRCh38)
1:46642444 (GRCh37)
Canonical SPDI:: NC_000001.11:46176771:C:T
Gene:: PIK3R3 (Varview), TSPAN1 (Varview), P3R3URF (Varview), P3R3URF-PIK3R3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.46176772C>T, NC_000001.10:g.46642444C>T, NG_050949.1:g.4724G>A

Select item 14858709358.

rs1485870935 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 1:46176213 (GRCh38)
1:46641885 (GRCh37)
Canonical SPDI:: NC_000001.11:46176212:GG:G
Gene:: PIK3R3 (Varview), TSPAN1 (Varview), P3R3URF (Varview), P3R3URF-PIK3R3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.46176214del, NC_000001.10:g.46641886del, NG_050949.1:g.5283del

Select item 14854901679.

rs1485490167 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:46176065 (GRCh38)
1:46641738 (GRCh37)
Canonical SPDI:: NC_000001.11:46176065:GGG:GGGG
Gene:: PIK3R3 (Varview), TSPAN1 (Varview), P3R3URF (Varview), P3R3URF-PIK3R3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGG=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.46176068dup, NC_000001.10:g.46641740dup, NG_050949.1:g.5430dup

Select item 148450689510.

rs1484506895 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:46175794 (GRCh38)
1:46641466 (GRCh37)
Canonical SPDI:: NC_000001.11:46175793:T:A
Gene:: PIK3R3 (Varview), TSPAN1 (Varview), P3R3URF (Varview), P3R3URF-PIK3R3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.46175794T>A, NC_000001.10:g.46641466T>A, NG_050949.1:g.5702A>T, XM_047421003.1:c.-195T>A

Select item 148411783711.

rs1484117837 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:46175876 (GRCh38)
1:46641548 (GRCh37)
Canonical SPDI:: NC_000001.11:46175875:T:G
Gene:: PIK3R3 (Varview), TSPAN1 (Varview), P3R3URF (Varview), P3R3URF-PIK3R3 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.46175876T>G, NC_000001.10:g.46641548T>G, NG_050949.1:g.5620A>C

Select item 148377689012.

rs1483776890 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:46176143 (GRCh38)
1:46641815 (GRCh37)
Canonical SPDI:: NC_000001.11:46176142:G:A
Gene:: PIK3R3 (Varview), TSPAN1 (Varview), P3R3URF (Varview), P3R3URF-PIK3R3 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000026/7 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.46176143G>A, NC_000001.10:g.46641815G>A, NG_050949.1:g.5353C>T

Select item 148353348613.

rs1483533486 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:46175304 (GRCh38)
1:46640976 (GRCh37)
Canonical SPDI:: NC_000001.11:46175303:G:A
Gene:: PIK3R3 (Varview), TSPAN1 (Varview), P3R3URF (Varview), P3R3URF-PIK3R3 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,intron_variant,500B_downstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.46175304G>A, NC_000001.10:g.46640976G>A, NG_050949.1:g.6192C>T, NM_005727.4:c.-247G>A, NM_005727.3:c.-247G>A, XM_011540460.4:c.-247G>A, XM_011540460.3:c.-247G>A, XM_011540460.2:c.-247G>A, XM_047420887.1:c.-754G>A, XM_047420946.1:c.-458G>A, XM_047420922.1:c.-410G>A, XM_047420982.1:c.-383G>A, XM_047421003.1:c.-366G>A

Select item 148221389014.

rs1482213890 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:46175609 (GRCh38)
1:46641281 (GRCh37)
Canonical SPDI:: NC_000001.11:46175608:G:A
Gene:: PIK3R3 (Varview), TSPAN1 (Varview), P3R3URF (Varview), P3R3URF-PIK3R3 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,intron_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.46175609G>A, NC_000001.10:g.46641281G>A, NG_050949.1:g.5887C>T, NM_001328655.2:c.265C>T, NM_001328655.1:c.265C>T, NP_001315584.1:p.Pro89Ser

Select item 147965305715.

rs1479653057 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:46176323 (GRCh38)
1:46641995 (GRCh37)
Canonical SPDI:: NC_000001.11:46176322:G:A
Gene:: PIK3R3 (Varview), TSPAN1 (Varview), P3R3URF (Varview), P3R3URF-PIK3R3 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,intron_variant,upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.46176323G>A, NC_000001.10:g.46641995G>A, NG_050949.1:g.5173C>T, NM_001303427.2:c.149C>T, NM_001303427.1:c.149C>T, NM_001328655.2:c.149C>T, NM_001328655.1:c.149C>T, NP_001290356.1:p.Thr50Ile, NP_001315584.1:p.Thr50Ile

Select item 147896364316.

rs1478963643 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:46176412 (GRCh38)
1:46642084 (GRCh37)
Canonical SPDI:: NC_000001.11:46176411:G:A
Gene:: PIK3R3 (Varview), TSPAN1 (Varview), P3R3URF (Varview), P3R3URF-PIK3R3 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,intron_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.46176412G>A, NC_000001.10:g.46642084G>A, NG_050949.1:g.5084C>T, NM_001303427.2:c.60C>T, NM_001303427.1:c.60C>T, NM_001328655.2:c.60C>T, NM_001328655.1:c.60C>T

Select item 147863990117.

rs1478639901 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:46177529 (GRCh38)
1:46643201 (GRCh37)
Canonical SPDI:: NC_000001.11:46177528:C:T
Gene:: TSPAN1 (Varview), P3R3URF (Varview), P3R3URF-PIK3R3 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.00003/8 (TOPMED)
HGVS:: NC_000001.11:g.46177529C>T, NC_000001.10:g.46643201C>T, NG_050949.1:g.3967G>A

Select item 147792747418.

rs1477927474 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:46178170 (GRCh38)
1:46643842 (GRCh37)
Canonical SPDI:: NC_000001.11:46178169:A:G
Gene:: TSPAN1 (Varview), P3R3URF (Varview), P3R3URF-PIK3R3 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.46178170A>G, NC_000001.10:g.46643842A>G, NG_050949.1:g.3326T>C

Select item 147666477019.

rs1476664770 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:46176740 (GRCh38)
1:46642412 (GRCh37)
Canonical SPDI:: NC_000001.11:46176739:A:G
Gene:: PIK3R3 (Varview), TSPAN1 (Varview), P3R3URF (Varview), P3R3URF-PIK3R3 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.46176740A>G, NC_000001.10:g.46642412A>G, NG_050949.1:g.4756T>C

Select item 147658791020.

rs1476587910 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:46176360 (GRCh38)
1:46642032 (GRCh37)
Canonical SPDI:: NC_000001.11:46176359:T:A,NC_000001.11:46176359:T:C
Gene:: PIK3R3 (Varview), TSPAN1 (Varview), P3R3URF (Varview), P3R3URF-PIK3R3 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,intron_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.46176360T>A, NC_000001.11:g.46176360T>C, NC_000001.10:g.46642032T>A, NC_000001.10:g.46642032T>C, NG_050949.1:g.5136A>T, NG_050949.1:g.5136A>G, NM_001303427.2:c.112A>T, NM_001303427.2:c.112A>G, NM_001303427.1:c.112A>T, NM_001303427.1:c.112A>G, NM_001328655.2:c.112A>T, NM_001328655.2:c.112A>G, NM_001328655.1:c.112A>T, NM_001328655.1:c.112A>G, NP_001290356.1:p.Ser38Cys, NP_001290356.1:p.Ser38Gly, NP_001315584.1:p.Ser38Cys, NP_001315584.1:p.Ser38Gly

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