SNP Links for Gene (Select 266971) - SNP

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Select item 14911358991.

rs1491135899 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TATATACATATATATATACTATATATATA,TATATACATATATATATACTATATATATATATATACATATATATATACTATATATATA [Show Flanks]
Chromosome:: 10:93962366 (GRCh38)
10:95722124 (GRCh37)
Canonical SPDI:: NC_000010.11:93962366:TATATATATATATATACATATATATATACTATATATATA:TATATATATATATATACATATATATATACTATATATATATATATACATATATATATACTATATATATA,NC_000010.11:93962366:TATATATATATATATACATATATATATACTATATATATA:TATATATATATATATACATATATATATACTATATATATATATATACATATATATATACTATATATATATATATACATATATATATACTATATATATA
Gene:: PIPSL (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATACATATATATATACTATATATATATATATACATATATATATACTATATATATA=0.0195/87 (ALFA)
TATATATATATATATACATATATATATAC=0.0153/98 (1000Genomes)
HGVS:: NC_000010.11:g.93962377_93962405dup, NC_000010.11:g.93962377TATATACATATATATATACTATATATATA[3], NC_000010.10:g.95722134_95722162dup, NC_000010.10:g.95722134TATATACATATATATATACTATATATATA[3]

Select item 14910878552.

rs1491087855 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 10:93958612 (GRCh38)
10:95718369 (GRCh37)
Canonical SPDI:: NC_000010.11:93958610:TCT:T
Gene:: PIPSL (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00126/15 (ALFA)
-=0.00255/178 (GnomAD)
HGVS:: NC_000010.11:g.93958612_93958613del, NC_000010.10:g.95718369_95718370del, NR_002319.2:n.3304_3305del

Select item 14907639493.

rs1490763949 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTATATATATAATATATACATATATA>-,CTATATATATAATATATACATATATACTATATATATAATATATACATATATA [Show Flanks]
Chromosome:: 10:93962453 (GRCh38)
10:95722210 (GRCh37)
Canonical SPDI:: NC_000010.11:93962437:ATATATACATATATACTATATATATAATATATACATATATA:ATATATACATATATA,NC_000010.11:93962437:ATATATACATATATACTATATATATAATATATACATATATA:ATATATACATATATACTATATATATAATATATACATATATACTATATATATAATATATACATATATA
Gene:: PIPSL (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.00032/5 (TOMMO)
-=0.0006/1 (Korea1K)
HGVS:: NC_000010.11:g.93962453_93962478del, NC_000010.11:g.93962453_93962478dup, NC_000010.10:g.95722210_95722235del, NC_000010.10:g.95722210_95722235dup

Select item 14905172904.

rs1490517290 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:93962939 (GRCh38)
10:95722696 (GRCh37)
Canonical SPDI:: NC_000010.11:93962938:G:A
Gene:: PIPSL (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (Korea1K)
HGVS:: NC_000010.11:g.93962939G>A, NC_000010.10:g.95722696G>A

Select item 14904230345.

rs1490423034 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:93963493 (GRCh38)
10:95723250 (GRCh37)
Canonical SPDI:: NC_000010.11:93963492:G:T
Gene:: PIPSL (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.93963493G>T, NC_000010.10:g.95723250G>T

Select item 14898153656.

rs1489815365 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 10:93958152 (GRCh38)
10:95717909 (GRCh37)
Canonical SPDI:: NC_000010.11:93958151:A:G,NC_000010.11:93958151:A:T
Gene:: PIPSL (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.93958152A>G, NC_000010.11:g.93958152A>T, NC_000010.10:g.95717909A>G, NC_000010.10:g.95717909A>T, NR_002319.2:n.3764T>C, NR_002319.2:n.3764T>A

Select item 14888854407.

rs1488885440 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:93961072 (GRCh38)
10:95720829 (GRCh37)
Canonical SPDI:: NC_000010.11:93961071:A:C
Gene:: PIPSL (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.93961072A>C, NC_000010.10:g.95720829A>C, NR_002319.2:n.844T>G

Select item 14885744078.

rs1488574407 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:93962473 (GRCh38)
10:95722230 (GRCh37)
Canonical SPDI:: NC_000010.11:93962472:T:C
Gene:: PIPSL (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000010.11:g.93962473T>C, NC_000010.10:g.95722230T>C

Select item 14881965539.

rs1488196553 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 10:93960100 (GRCh38)
10:95719857 (GRCh37)
Canonical SPDI:: NC_000010.11:93960099:A:C,NC_000010.11:93960099:A:G
Gene:: PIPSL (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000019/5 (TOPMED)
HGVS:: NC_000010.11:g.93960100A>C, NC_000010.11:g.93960100A>G, NC_000010.10:g.95719857A>C, NC_000010.10:g.95719857A>G, NR_002319.2:n.1816T>G, NR_002319.2:n.1816T>C

Select item 148808346910.

rs1488083469 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:93959344 (GRCh38)
10:95719101 (GRCh37)
Canonical SPDI:: NC_000010.11:93959343:C:A
Gene:: PIPSL (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.93959344C>A, NC_000010.10:g.95719101C>A, NR_002319.2:n.2572G>T

Select item 148780306711.

rs1487803067 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:93958593 (GRCh38)
10:95718350 (GRCh37)
Canonical SPDI:: NC_000010.11:93958592:C:A
Gene:: PIPSL (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000015/2 (GnomAD)
HGVS:: NC_000010.11:g.93958593C>A, NC_000010.10:g.95718350C>A, NR_002319.2:n.3323G>T

Select item 148720863812.

rs1487208638 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:93960416 (GRCh38)
10:95720173 (GRCh37)
Canonical SPDI:: NC_000010.11:93960415:A:G
Gene:: PIPSL (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000342/1 (KOREAN)
HGVS:: NC_000010.11:g.93960416A>G, NC_000010.10:g.95720173A>G, NR_002319.2:n.1500T>C

Select item 148708956013.

rs1487089560 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:93961787 (GRCh38)
10:95721544 (GRCh37)
Canonical SPDI:: NC_000010.11:93961786:G:C
Gene:: PIPSL (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.93961787G>C, NC_000010.10:g.95721544G>C, NR_002319.2:n.129C>G

Select item 148708149814.

rs1487081498 [Homo sapiens]

Variant type:: DEL
Alleles:: TTTT>- [Show Flanks]
Chromosome:: 10:93958604 (GRCh38)
10:95718361 (GRCh37)
Canonical SPDI:: NC_000010.11:93958603:TTTT:
Gene:: PIPSL (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.93958604_93958607del, NC_000010.10:g.95718361_95718364del, NR_002319.2:n.3309_3312del

Select item 148689655515.

rs1486896555 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:93961260 (GRCh38)
10:95721017 (GRCh37)
Canonical SPDI:: NC_000010.11:93961259:C:T
Gene:: PIPSL (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.93961260C>T, NC_000010.10:g.95721017C>T, NR_002319.2:n.656G>A

Select item 148661916216.

rs1486619162 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:93963383 (GRCh38)
10:95723140 (GRCh37)
Canonical SPDI:: NC_000010.11:93963382:C:G
Gene:: PIPSL (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.93963383C>G, NC_000010.10:g.95723140C>G

Select item 148620563717.

rs1486205637 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:93959303 (GRCh38)
10:95719060 (GRCh37)
Canonical SPDI:: NC_000010.11:93959302:A:T
Gene:: PIPSL (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.93959303A>T, NC_000010.10:g.95719060A>T, NR_002319.2:n.2613T>A

Select item 148597706818.

rs1485977068 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:93960684 (GRCh38)
10:95720441 (GRCh37)
Canonical SPDI:: NC_000010.11:93960683:G:A
Gene:: PIPSL (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.93960684G>A, NC_000010.10:g.95720441G>A, NR_002319.2:n.1232C>T

Select item 148506904419.

rs1485069044 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTTTTCTTTCTTT>- [Show Flanks]
Chromosome:: 10:93958602 (GRCh38)
10:95718359 (GRCh37)
Canonical SPDI:: NC_000010.11:93958594:TTTCTTTTCTTTTCTTTCTTT:TTTCTTT
Gene:: PIPSL (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTCTTT=0./0 (ALFA)
-=0.000089/12 (GnomAD)
HGVS:: NC_000010.11:g.93958602_93958615del, NC_000010.10:g.95718359_95718372del, NR_002319.2:n.3308_3321del

Select item 148485625220.

rs1484856252 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:93960154 (GRCh38)
10:95719911 (GRCh37)
Canonical SPDI:: NC_000010.11:93960153:A:G
Gene:: PIPSL (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.93960154A>G, NC_000010.10:g.95719911A>G, NR_002319.2:n.1762T>C

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