SNP Links for Gene (Select 5340) - SNP

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Select item 14915038241.

rs1491503824 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA [Show Flanks]
Chromosome:: 6:160748404 (GRCh38)
6:161169436 (GRCh37)
Canonical SPDI:: NC_000006.12:160748402:AGA:A,NC_000006.12:160748402:AGA:AGAGA
Gene:: PLG (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
AG=0.00006/1 (GnomAD)
HGVS:: NC_000006.12:g.160748404_160748405del, NC_000006.12:g.160748404_160748405dup, NC_000006.11:g.161169436_161169437del, NC_000006.11:g.161169436_161169437dup, NG_016200.1:g.51212_51213del, NG_016200.1:g.51212_51213dup

Select item 14914738622.

rs1491473862 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,AAA,AAAAA,AAAGAA,AAAGAAAGAA,AAAGAAAGAAAGAAAGGGAA,AAAGAAAGAAAGGGAA,AAAGAAAGGGAA,AAAGGGAA,AGAA,CAA [Show Flanks]
Chromosome:: 6:160748416 (GRCh38)
6:161169449 (GRCh37)
Canonical SPDI:: NC_000006.12:160748416::A,NC_000006.12:160748416::AA,NC_000006.12:160748416::AAA,NC_000006.12:160748416::AAAAA,NC_000006.12:160748416::AAAGAA,NC_000006.12:160748416::AAAGAAAGAA,NC_000006.12:160748416::AAAGAAAGAAAGAAAGGGAA,NC_000006.12:160748416::AAAGAAAGAAAGGGAA,NC_000006.12:160748416::AAAGAAAGGGAA,NC_000006.12:160748416::AAAGGGAA,NC_000006.12:160748416::AGAA,NC_000006.12:160748416::CAA
Gene:: PLG (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAGAA=0./0 (ALFA)
HGVS:: NC_000006.12:g.160748416_160748417insA, NC_000006.12:g.160748416_160748417insAA, NC_000006.12:g.160748416_160748417insAAA, NC_000006.12:g.160748416_160748417insAAAAA, NC_000006.12:g.160748416_160748417insAAAGAA, NC_000006.12:g.160748416_160748417insAAAGAAAGAA, NC_000006.12:g.160748416_160748417insAAAGAAAGAAAGAAAGGGAA, NC_000006.12:g.160748416_160748417insAAAGAAAGAAAGGGAA, NC_000006.12:g.160748416_160748417insAAAGAAAGGGAA, NC_000006.12:g.160748416_160748417insAAAGGGAA, NC_000006.12:g.160748416_160748417insAGAA, NC_000006.12:g.160748416_160748417insCAA, NC_000006.11:g.161169448_161169449insA, NC_000006.11:g.161169448_161169449insAA, NC_000006.11:g.161169448_161169449insAAA, NC_000006.11:g.161169448_161169449insAAAAA, NC_000006.11:g.161169448_161169449insAAAGAA, NC_000006.11:g.161169448_161169449insAAAGAAAGAA, NC_000006.11:g.161169448_161169449insAAAGAAAGAAAGAAAGGGAA, NC_000006.11:g.161169448_161169449insAAAGAAAGAAAGGGAA, NC_000006.11:g.161169448_161169449insAAAGAAAGGGAA, NC_000006.11:g.161169448_161169449insAAAGGGAA, NC_000006.11:g.161169448_161169449insAGAA, NC_000006.11:g.161169448_161169449insCAA, NG_016200.1:g.51224_51225insA, NG_016200.1:g.51224_51225insAA, NG_016200.1:g.51224_51225insAAA, NG_016200.1:g.51224_51225insAAAAA, NG_016200.1:g.51224_51225insAAAGAA, NG_016200.1:g.51224_51225insAAAGAAAGAA, NG_016200.1:g.51224_51225insAAAGAAAGAAAGAAAGGGAA, NG_016200.1:g.51224_51225insAAAGAAAGAAAGGGAA, NG_016200.1:g.51224_51225insAAAGAAAGGGAA, NG_016200.1:g.51224_51225insAAAGGGAA, NG_016200.1:g.51224_51225insAGAA, NG_016200.1:g.51224_51225insCAA

Select item 14914634433.

rs1491463443 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GG [Show Flanks]
Chromosome:: 6:160748403 (GRCh38)
6:161169436 (GRCh37)
Canonical SPDI:: NC_000006.12:160748403:G:GGG
Gene:: PLG (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GGG=0./0 (ALFA)
HGVS:: NC_000006.12:g.160748404_160748405insGG, NC_000006.11:g.161169436_161169437insGG, NG_016200.1:g.51212_51213insGG

Select item 14914082084.

rs1491408208 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAA [Show Flanks]
Chromosome:: 6:160748348 (GRCh38)
6:161169380 (GRCh37)
Canonical SPDI:: NC_000006.12:160748346:AAA:A,NC_000006.12:160748346:AAA:AAAA
Gene:: PLG (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.160748348_160748349del, NC_000006.12:g.160748349dup, NC_000006.11:g.161169380_161169381del, NC_000006.11:g.161169381dup, NG_016200.1:g.51156_51157del, NG_016200.1:g.51157dup

Select item 14914046345.

rs1491404634 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 6:160748369 (GRCh38)
6:161169402 (GRCh37)
Canonical SPDI:: NC_000006.12:160748369::G
Gene:: PLG (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.00138/52 (GnomAD)
HGVS:: NC_000006.12:g.160748369_160748370insG, NC_000006.11:g.161169401_161169402insG, NG_016200.1:g.51177_51178insG

Select item 14913003786.

rs1491300378 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 6:160723116 (GRCh38)
6:161144149 (GRCh37)
Canonical SPDI:: NC_000006.12:160723116::A
Gene:: PLG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
HGVS:: NC_000006.12:g.160723116_160723117insA, NC_000006.11:g.161144148_161144149insA, NG_016200.1:g.25924_25925insA

Select item 14912544417.

rs1491254441 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGAGAGAGA [Show Flanks]
Chromosome:: 6:160748388 (GRCh38)
6:161169420 (GRCh37)
Canonical SPDI:: NC_000006.12:160748386:AGA:A,NC_000006.12:160748386:AGA:AGAGAGAGAGA
Gene:: PLG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
AGAGAGAG=0.00003/1 (GnomAD)
HGVS:: NC_000006.12:g.160748388_160748389del, NC_000006.12:g.160748388GA[5], NC_000006.11:g.161169420_161169421del, NC_000006.11:g.161169420GA[5], NG_016200.1:g.51196_51197del, NG_016200.1:g.51196GA[5]

Select item 14912453658.

rs1491245365 has merged into rs201754541 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:160734756 (GRCh38)
6:161155788 (GRCh37)
Canonical SPDI:: NC_000006.12:160734745:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:160734745:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:160734745:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:160734745:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:160734745:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:160734745:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:160734745:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:160734745:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:160734745:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:160734745:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:160734745:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:160734745:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:160734745:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:160734745:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:160734745:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PLG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.275/11 (GENOME_DK)
HGVS:: NC_000006.12:g.160734756_160734764del, NC_000006.12:g.160734757_160734764del, NC_000006.12:g.160734758_160734764del, NC_000006.12:g.160734759_160734764del, NC_000006.12:g.160734761_160734764del, NC_000006.12:g.160734762_160734764del, NC_000006.12:g.160734763_160734764del, NC_000006.12:g.160734764del, NC_000006.12:g.160734764dup, NC_000006.12:g.160734763_160734764dup, NC_000006.12:g.160734762_160734764dup, NC_000006.12:g.160734761_160734764dup, NC_000006.12:g.160734760_160734764dup, NC_000006.12:g.160734758_160734764dup, NC_000006.12:g.160734757_160734764dup, NC_000006.11:g.161155788_161155796del, NC_000006.11:g.161155789_161155796del, NC_000006.11:g.161155790_161155796del, NC_000006.11:g.161155791_161155796del, NC_000006.11:g.161155793_161155796del, NC_000006.11:g.161155794_161155796del, NC_000006.11:g.161155795_161155796del, NC_000006.11:g.161155796del, NC_000006.11:g.161155796dup, NC_000006.11:g.161155795_161155796dup, NC_000006.11:g.161155794_161155796dup, NC_000006.11:g.161155793_161155796dup, NC_000006.11:g.161155792_161155796dup, NC_000006.11:g.161155790_161155796dup, NC_000006.11:g.161155789_161155796dup, NG_016200.1:g.37564_37572del, NG_016200.1:g.37565_37572del, NG_016200.1:g.37566_37572del, NG_016200.1:g.37567_37572del, NG_016200.1:g.37569_37572del, NG_016200.1:g.37570_37572del, NG_016200.1:g.37571_37572del, NG_016200.1:g.37572del, NG_016200.1:g.37572dup, NG_016200.1:g.37571_37572dup, NG_016200.1:g.37570_37572dup, NG_016200.1:g.37569_37572dup, NG_016200.1:g.37568_37572dup, NG_016200.1:g.37566_37572dup, NG_016200.1:g.37565_37572dup

Select item 14912054959.

rs1491205495 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GG [Show Flanks]
Chromosome:: 6:160748387 (GRCh38)
6:161169420 (GRCh37)
Canonical SPDI:: NC_000006.12:160748387:G:GGG
Gene:: PLG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GGG=0./0 (ALFA)
HGVS:: NC_000006.12:g.160748388_160748389insGG, NC_000006.11:g.161169420_161169421insGG, NG_016200.1:g.51196_51197insGG

Select item 149116082710.

rs1491160827 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAA,AAAGAAA,AAAGAAAGAAA,AAAGAAAGAAAACGAAAGAAA,AAAGAAAGAGAACGAAAGAAA,AAAGAAAGAGAATGAAAGAAA,AAAGAGAACGAAAGAAA,AACGAAA,AACGAAAGAAA [Show Flanks]
Chromosome:: 6:160748447 (GRCh38)
6:161169480 (GRCh37)
Canonical SPDI:: NC_000006.12:160748447::AAA,NC_000006.12:160748447::AAAGAAA,NC_000006.12:160748447::AAAGAAAGAAA,NC_000006.12:160748447::AAAGAAAGAAAACGAAAGAAA,NC_000006.12:160748447::AAAGAAAGAGAACGAAAGAAA,NC_000006.12:160748447::AAAGAAAGAGAATGAAAGAAA,NC_000006.12:160748447::AAAGAGAACGAAAGAAA,NC_000006.12:160748447::AACGAAA,NC_000006.12:160748447::AACGAAAGAAA
Gene:: PLG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by cluster
HGVS:: NC_000006.12:g.160748447_160748448insAAA, NC_000006.12:g.160748447_160748448insAAAGAAA, NC_000006.12:g.160748447_160748448insAAAGAAAGAAA, NC_000006.12:g.160748447_160748448insAAAGAAAGAAAACGAAAGAAA, NC_000006.12:g.160748447_160748448insAAAGAAAGAGAACGAAAGAAA, NC_000006.12:g.160748447_160748448insAAAGAAAGAGAATGAAAGAAA, NC_000006.12:g.160748447_160748448insAAAGAGAACGAAAGAAA, NC_000006.12:g.160748447_160748448insAACGAAA, NC_000006.12:g.160748447_160748448insAACGAAAGAAA, NC_000006.11:g.161169479_161169480insAAA, NC_000006.11:g.161169479_161169480insAAAGAAA, NC_000006.11:g.161169479_161169480insAAAGAAAGAAA, NC_000006.11:g.161169479_161169480insAAAGAAAGAAAACGAAAGAAA, NC_000006.11:g.161169479_161169480insAAAGAAAGAGAACGAAAGAAA, NC_000006.11:g.161169479_161169480insAAAGAAAGAGAATGAAAGAAA, NC_000006.11:g.161169479_161169480insAAAGAGAACGAAAGAAA, NC_000006.11:g.161169479_161169480insAACGAAA, NC_000006.11:g.161169479_161169480insAACGAAAGAAA, NG_016200.1:g.51255_51256insAAA, NG_016200.1:g.51255_51256insAAAGAAA, NG_016200.1:g.51255_51256insAAAGAAAGAAA, NG_016200.1:g.51255_51256insAAAGAAAGAAAACGAAAGAAA, NG_016200.1:g.51255_51256insAAAGAAAGAGAACGAAAGAAA, NG_016200.1:g.51255_51256insAAAGAAAGAGAATGAAAGAAA, NG_016200.1:g.51255_51256insAAAGAGAACGAAAGAAA, NG_016200.1:g.51255_51256insAACGAAA, NG_016200.1:g.51255_51256insAACGAAAGAAA

Select item 149115728611.

rs1491157286 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>- [Show Flanks]
Chromosome:: 6:160748448 (GRCh38)
6:161169480 (GRCh37)
Canonical SPDI:: NC_000006.12:160748446:GGG:G
Gene:: PLG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.0063/35 (GnomAD)
HGVS:: NC_000006.12:g.160748448_160748449del, NC_000006.11:g.161169480_161169481del, NG_016200.1:g.51256_51257del

Select item 149114097012.

rs1491140970 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 6:160748370 (GRCh38)
6:161169402 (GRCh37)
Canonical SPDI:: NC_000006.12:160748368:AAA:A
Gene:: PLG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00025/3 (ALFA)
-=0.00172/11 (1000Genomes)
HGVS:: NC_000006.12:g.160748370_160748371del, NC_000006.11:g.161169402_161169403del, NG_016200.1:g.51178_51179del

Select item 149111546613.

rs1491115466 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->G
Chromosome:: no mapping
Canonical SPDI:

Select item 149109118814.

rs1491091188 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 6:160734745 (GRCh38)
6:161155777 (GRCh37)
Canonical SPDI:: NC_000006.12:160734744:GA:
Gene:: PLG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000006.12:g.160734745_160734746del, NC_000006.11:g.161155777_161155778del, NG_016200.1:g.37553_37554del

Select item 149102427015.

rs1491024270 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 6:160706966 (GRCh38)
6:161127998 (GRCh37)
Canonical SPDI:: NC_000006.12:160706964:AGA:A
Gene:: PLG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.160706966_160706967del, NC_000006.11:g.161127998_161127999del, NG_016200.1:g.9774_9775del

Select item 149080180916.

rs1490801809 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:160746003 (GRCh38)
6:161167035 (GRCh37)
Canonical SPDI:: NC_000006.12:160746002:A:G
Gene:: PLG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.160746003A>G, NC_000006.11:g.161167035A>G, NG_016200.1:g.48811A>G

Select item 149071516917.

rs1490715169 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:160703615 (GRCh38)
6:161124647 (GRCh37)
Canonical SPDI:: NC_000006.12:160703614:C:G
Gene:: PLG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.160703615C>G, NC_000006.11:g.161124647C>G, NG_016200.1:g.6423C>G

Select item 149067329318.

rs1490673293 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:160751404 (GRCh38)
6:161172436 (GRCh37)
Canonical SPDI:: NC_000006.12:160751403:A:G
Gene:: PLG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
HGVS:: NC_000006.12:g.160751404A>G, NC_000006.11:g.161172436A>G, NG_016200.1:g.54212A>G

Select item 149061345319.

rs1490613453 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:160719286 (GRCh38)
6:161140318 (GRCh37)
Canonical SPDI:: NC_000006.12:160719285:T:C
Gene:: PLG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.160719286T>C, NC_000006.11:g.161140318T>C, NG_016200.1:g.22094T>C

Select item 149055026120.

rs1490550261 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:160704030 (GRCh38)
6:161125062 (GRCh37)
Canonical SPDI:: NC_000006.12:160704029:C:G
Gene:: PLG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.160704030C>G, NC_000006.11:g.161125062C>G, NG_016200.1:g.6838C>G

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