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Select item 14915784741.

rs1491578474 has merged into rs1164155218 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:172329096 (GRCh38)
5:171756100 (GRCh37)
Canonical SPDI:: NC_000005.10:172329083:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:172329083:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:172329083:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:172329083:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:172329083:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:172329083:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:172329083:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:172329083:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:172329083:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:172329083:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:172329083:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:172329083:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:172329083:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:172329083:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:172329083:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:172329083:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:172329083:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:172329083:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:172329083:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:172329083:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:172329083:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:172329083:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:172329083:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:172329083:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SH3PXD2B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000005.10:g.172329096_172329098del, NC_000005.10:g.172329097_172329098del, NC_000005.10:g.172329098del, NC_000005.10:g.172329098dup, NC_000005.10:g.172329097_172329098dup, NC_000005.10:g.172329096_172329098dup, NC_000005.10:g.172329095_172329098dup, NC_000005.10:g.172329094_172329098dup, NC_000005.10:g.172329093_172329098dup, NC_000005.10:g.172329092_172329098dup, NC_000005.10:g.172329091_172329098dup, NC_000005.10:g.172329090_172329098dup, NC_000005.10:g.172329089_172329098dup, NC_000005.10:g.172329088_172329098dup, NC_000005.10:g.172329087_172329098dup, NC_000005.10:g.172329086_172329098dup, NC_000005.10:g.172329085_172329098dup, NC_000005.10:g.172329084_172329098dup, NC_000005.10:g.172329098_172329099insTTTTTTTTTTTTTTTT, NC_000005.10:g.172329098_172329099insTTTTTTTTTTTTTTTTT, NC_000005.10:g.172329098_172329099insTTTTTTTTTTTTTTTTTT, NC_000005.10:g.172329098_172329099insTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.172329098_172329099insTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.172329098_172329099insTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.171756100_171756102del, NC_000005.9:g.171756101_171756102del, NC_000005.9:g.171756102del, NC_000005.9:g.171756102dup, NC_000005.9:g.171756101_171756102dup, NC_000005.9:g.171756100_171756102dup, NC_000005.9:g.171756099_171756102dup, NC_000005.9:g.171756098_171756102dup, NC_000005.9:g.171756097_171756102dup, NC_000005.9:g.171756096_171756102dup, NC_000005.9:g.171756095_171756102dup, NC_000005.9:g.171756094_171756102dup, NC_000005.9:g.171756093_171756102dup, NC_000005.9:g.171756092_171756102dup, NC_000005.9:g.171756091_171756102dup, NC_000005.9:g.171756090_171756102dup, NC_000005.9:g.171756089_171756102dup, NC_000005.9:g.171756088_171756102dup, NC_000005.9:g.171756102_171756103insTTTTTTTTTTTTTTTT, NC_000005.9:g.171756102_171756103insTTTTTTTTTTTTTTTTT, NC_000005.9:g.171756102_171756103insTTTTTTTTTTTTTTTTTT, NC_000005.9:g.171756102_171756103insTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.171756102_171756103insTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.171756102_171756103insTTTTTTTTTTTTTTTTTTTTTTT, NG_027746.2:g.130438_130440del, NG_027746.2:g.130439_130440del, NG_027746.2:g.130440del, NG_027746.2:g.130440dup, NG_027746.2:g.130439_130440dup, NG_027746.2:g.130438_130440dup, NG_027746.2:g.130437_130440dup, NG_027746.2:g.130436_130440dup, NG_027746.2:g.130435_130440dup, NG_027746.2:g.130434_130440dup, NG_027746.2:g.130433_130440dup, NG_027746.2:g.130432_130440dup, NG_027746.2:g.130431_130440dup, NG_027746.2:g.130430_130440dup, NG_027746.2:g.130429_130440dup, NG_027746.2:g.130428_130440dup, NG_027746.2:g.130427_130440dup, NG_027746.2:g.130426_130440dup, NG_027746.2:g.130440_130441insAAAAAAAAAAAAAAAA, NG_027746.2:g.130440_130441insAAAAAAAAAAAAAAAAA, NG_027746.2:g.130440_130441insAAAAAAAAAAAAAAAAAA, NG_027746.2:g.130440_130441insAAAAAAAAAAAAAAAAAAA, NG_027746.2:g.130440_130441insAAAAAAAAAAAAAAAAAAAA, NG_027746.2:g.130440_130441insAAAAAAAAAAAAAAAAAAAAAAA

Select item 14915517892.

rs1491551789 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:172367390 (GRCh38)
5:171794395 (GRCh37)
Canonical SPDI:: NC_000005.10:172367390::A
Gene:: SH3PXD2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000029/1 (GnomAD)
HGVS:: NC_000005.10:g.172367390_172367391insA, NC_000005.9:g.171794394_171794395insA, NG_027746.2:g.92133_92134insT

Select item 14915482783.

rs1491548278 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:172349850 (GRCh38)
5:171776855 (GRCh37)
Canonical SPDI:: NC_000005.10:172349850::A
Gene:: SH3PXD2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.172349850_172349851insA, NC_000005.9:g.171776854_171776855insA, NG_027746.2:g.109673_109674insT

Select item 14915336594.

rs1491533659 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 5:172355548 (GRCh38)
5:171782552 (GRCh37)
Canonical SPDI:: NC_000005.10:172355546:TCT:T
Gene:: SH3PXD2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000198/3 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000177/3 (TOMMO)
HGVS:: NC_000005.10:g.172355548_172355549del, NC_000005.9:g.171782552_171782553del, NG_027746.2:g.103976_103977del

Select item 14915308675.

rs1491530867 has merged into rs1283627913 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 5:172332950 (GRCh38)
5:171759954 (GRCh37)
Canonical SPDI:: NC_000005.10:172332936:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:172332936:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:172332936:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:172332936:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:172332936:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:172332936:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: SH3PXD2B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000005.10:g.172332950_172332953del, NC_000005.10:g.172332951_172332953del, NC_000005.10:g.172332952_172332953del, NC_000005.10:g.172332953del, NC_000005.10:g.172332953dup, NC_000005.10:g.172332952_172332953dup, NC_000005.9:g.171759954_171759957del, NC_000005.9:g.171759955_171759957del, NC_000005.9:g.171759956_171759957del, NC_000005.9:g.171759957del, NC_000005.9:g.171759957dup, NC_000005.9:g.171759956_171759957dup, NG_027746.2:g.126584_126587del, NG_027746.2:g.126585_126587del, NG_027746.2:g.126586_126587del, NG_027746.2:g.126587del, NG_027746.2:g.126587dup, NG_027746.2:g.126586_126587dup

Select item 14915082846.

rs1491508284 has merged into rs34660682 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 5:172367403 (GRCh38)
5:171794407 (GRCh37)
Canonical SPDI:: NC_000005.10:172367389:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:172367389:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:172367389:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:172367389:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:172367389:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:172367389:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:172367389:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:172367389:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: SH3PXD2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
T=0.4928/2468 (1000Genomes)
HGVS:: NC_000005.10:g.172367403_172367405del, NC_000005.10:g.172367404_172367405del, NC_000005.10:g.172367405del, NC_000005.10:g.172367405dup, NC_000005.10:g.172367404_172367405dup, NC_000005.10:g.172367403_172367405dup, NC_000005.10:g.172367402_172367405dup, NC_000005.10:g.172367399_172367405dup, NC_000005.9:g.171794407_171794409del, NC_000005.9:g.171794408_171794409del, NC_000005.9:g.171794409del, NC_000005.9:g.171794409dup, NC_000005.9:g.171794408_171794409dup, NC_000005.9:g.171794407_171794409dup, NC_000005.9:g.171794406_171794409dup, NC_000005.9:g.171794403_171794409dup, NG_027746.2:g.92132_92134del, NG_027746.2:g.92133_92134del, NG_027746.2:g.92134del, NG_027746.2:g.92134dup, NG_027746.2:g.92133_92134dup, NG_027746.2:g.92132_92134dup, NG_027746.2:g.92131_92134dup, NG_027746.2:g.92128_92134dup

Select item 14915067037.

rs1491506703 has merged into rs202242720 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:172416708 (GRCh38)
5:171843712 (GRCh37)
Canonical SPDI:: NC_000005.10:172416696:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:172416696:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:172416696:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:172416696:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:172416696:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:172416696:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:172416696:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:172416696:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:172416696:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:172416696:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:172416696:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:172416696:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:172416696:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:172416696:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:172416696:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:172416696:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:172416696:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:172416696:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:172416696:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:172416696:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:172416696:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:172416696:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:172416696:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:172416696:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:172416696:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:172416696:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:172416696:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:172416696:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:172416696:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:172416696:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SH3PXD2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000005.10:g.172416708_172416726del, NC_000005.10:g.172416709_172416726del, NC_000005.10:g.172416710_172416726del, NC_000005.10:g.172416711_172416726del, NC_000005.10:g.172416712_172416726del, NC_000005.10:g.172416713_172416726del, NC_000005.10:g.172416714_172416726del, NC_000005.10:g.172416715_172416726del, NC_000005.10:g.172416716_172416726del, NC_000005.10:g.172416717_172416726del, NC_000005.10:g.172416718_172416726del, NC_000005.10:g.172416719_172416726del, NC_000005.10:g.172416720_172416726del, NC_000005.10:g.172416721_172416726del, NC_000005.10:g.172416722_172416726del, NC_000005.10:g.172416723_172416726del, NC_000005.10:g.172416724_172416726del, NC_000005.10:g.172416725_172416726del, NC_000005.10:g.172416726del, NC_000005.10:g.172416726dup, NC_000005.10:g.172416725_172416726dup, NC_000005.10:g.172416724_172416726dup, NC_000005.10:g.172416723_172416726dup, NC_000005.10:g.172416722_172416726dup, NC_000005.10:g.172416721_172416726dup, NC_000005.10:g.172416720_172416726dup, NC_000005.10:g.172416719_172416726dup, NC_000005.10:g.172416718_172416726dup, NC_000005.10:g.172416717_172416726dup, NC_000005.10:g.172416716_172416726dup, NC_000005.9:g.171843712_171843730del, NC_000005.9:g.171843713_171843730del, NC_000005.9:g.171843714_171843730del, NC_000005.9:g.171843715_171843730del, NC_000005.9:g.171843716_171843730del, NC_000005.9:g.171843717_171843730del, NC_000005.9:g.171843718_171843730del, NC_000005.9:g.171843719_171843730del, NC_000005.9:g.171843720_171843730del, NC_000005.9:g.171843721_171843730del, NC_000005.9:g.171843722_171843730del, NC_000005.9:g.171843723_171843730del, NC_000005.9:g.171843724_171843730del, NC_000005.9:g.171843725_171843730del, NC_000005.9:g.171843726_171843730del, NC_000005.9:g.171843727_171843730del, NC_000005.9:g.171843728_171843730del, NC_000005.9:g.171843729_171843730del, NC_000005.9:g.171843730del, NC_000005.9:g.171843730dup, NC_000005.9:g.171843729_171843730dup, NC_000005.9:g.171843728_171843730dup, NC_000005.9:g.171843727_171843730dup, NC_000005.9:g.171843726_171843730dup, NC_000005.9:g.171843725_171843730dup, NC_000005.9:g.171843724_171843730dup, NC_000005.9:g.171843723_171843730dup, NC_000005.9:g.171843722_171843730dup, NC_000005.9:g.171843721_171843730dup, NC_000005.9:g.171843720_171843730dup, NG_027746.2:g.42809_42827del, NG_027746.2:g.42810_42827del, NG_027746.2:g.42811_42827del, NG_027746.2:g.42812_42827del, NG_027746.2:g.42813_42827del, NG_027746.2:g.42814_42827del, NG_027746.2:g.42815_42827del, NG_027746.2:g.42816_42827del, NG_027746.2:g.42817_42827del, NG_027746.2:g.42818_42827del, NG_027746.2:g.42819_42827del, NG_027746.2:g.42820_42827del, NG_027746.2:g.42821_42827del, NG_027746.2:g.42822_42827del, NG_027746.2:g.42823_42827del, NG_027746.2:g.42824_42827del, NG_027746.2:g.42825_42827del, NG_027746.2:g.42826_42827del, NG_027746.2:g.42827del, NG_027746.2:g.42827dup, NG_027746.2:g.42826_42827dup, NG_027746.2:g.42825_42827dup, NG_027746.2:g.42824_42827dup, NG_027746.2:g.42823_42827dup, NG_027746.2:g.42822_42827dup, NG_027746.2:g.42821_42827dup, NG_027746.2:g.42820_42827dup, NG_027746.2:g.42819_42827dup, NG_027746.2:g.42818_42827dup, NG_027746.2:g.42817_42827dup

Select item 14914998288.

rs1491499828 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:172432926 (GRCh38)
5:171859931 (GRCh37)
Canonical SPDI:: NC_000005.10:172432926::A
Gene:: SH3PXD2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000982/3 (GnomAD)
HGVS:: NC_000005.10:g.172432926_172432927insA, NC_000005.9:g.171859930_171859931insA, NG_027746.2:g.26597_26598insT

Select item 14914747999.

rs1491474799 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A [Show Flanks]
Chromosome:: 5:172368723 (GRCh38)
5:171795727 (GRCh37)
Canonical SPDI:: NC_000005.10:172368721:AAAA:A,NC_000005.10:172368721:AAAA:AA
Gene:: SH3PXD2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000005.10:g.172368723_172368725del, NC_000005.10:g.172368724_172368725del, NC_000005.9:g.171795727_171795729del, NC_000005.9:g.171795728_171795729del, NG_027746.2:g.90800_90802del, NG_027746.2:g.90801_90802del

Select item 149146285110.

rs1491462851 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TAT,TATAT [Show Flanks]
Chromosome:: 5:172368696 (GRCh38)
5:171795701 (GRCh37)
Canonical SPDI:: NC_000005.10:172368696::T,NC_000005.10:172368696::TAT,NC_000005.10:172368696::TATAT
Gene:: SH3PXD2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TAT=0./0 (ALFA)
HGVS:: NC_000005.10:g.172368696_172368697insT, NC_000005.10:g.172368696_172368697insTAT, NC_000005.10:g.172368696_172368697insTATAT, NC_000005.9:g.171795700_171795701insT, NC_000005.9:g.171795700_171795701insTAT, NC_000005.9:g.171795700_171795701insTATAT, NG_027746.2:g.90827_90828insA, NG_027746.2:g.90827_90828insATA, NG_027746.2:g.90827_90828insATATA

Select item 149145645111.

rs1491456451 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 5:172368744 (GRCh38)
5:171795748 (GRCh37)
Canonical SPDI:: NC_000005.10:172368743:AA:
Gene:: SH3PXD2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00002/2 (GnomAD)
HGVS:: NC_000005.10:g.172368744_172368745del, NC_000005.9:g.171795748_171795749del, NG_027746.2:g.90779_90780del

Select item 149145439912.

rs1491454399 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:172379069 (GRCh38)
5:171806073 (GRCh37)
Canonical SPDI:: NC_000005.10:172379068:CA:
Gene:: SH3PXD2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01281/152 (ALFA)
-=0.00552/152 (TOMMO)
HGVS:: NC_000005.10:g.172379069_172379070del, NC_000005.9:g.171806073_171806074del, NG_027746.2:g.80454_80455del

Select item 149145201913.

rs1491452019 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TAAAAT,TAAC,TAACAT,TAAT,TATAACAT,TATAAT,TT [Show Flanks]
Chromosome:: 5:172368606 (GRCh38)
5:171795611 (GRCh37)
Canonical SPDI:: NC_000005.10:172368606::T,NC_000005.10:172368606::TAAAAT,NC_000005.10:172368606::TAAC,NC_000005.10:172368606::TAACAT,NC_000005.10:172368606::TAAT,NC_000005.10:172368606::TATAACAT,NC_000005.10:172368606::TATAAT,NC_000005.10:172368606::TT
Gene:: SH3PXD2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAAC=0./0 (ALFA)
HGVS:: NC_000005.10:g.172368606_172368607insT, NC_000005.10:g.172368606_172368607insTAAAAT, NC_000005.10:g.172368606_172368607insTAAC, NC_000005.10:g.172368606_172368607insTAACAT, NC_000005.10:g.172368606_172368607insTAAT, NC_000005.10:g.172368606_172368607insTATAACAT, NC_000005.10:g.172368606_172368607insTATAAT, NC_000005.10:g.172368606_172368607insTT, NC_000005.9:g.171795610_171795611insT, NC_000005.9:g.171795610_171795611insTAAAAT, NC_000005.9:g.171795610_171795611insTAAC, NC_000005.9:g.171795610_171795611insTAACAT, NC_000005.9:g.171795610_171795611insTAAT, NC_000005.9:g.171795610_171795611insTATAACAT, NC_000005.9:g.171795610_171795611insTATAAT, NC_000005.9:g.171795610_171795611insTT, NG_027746.2:g.90917_90918insA, NG_027746.2:g.90917_90918insATTTTA, NG_027746.2:g.90917_90918insGTTA, NG_027746.2:g.90917_90918insATGTTA, NG_027746.2:g.90917_90918insATTA, NG_027746.2:g.90917_90918insATGTTATA, NG_027746.2:g.90917_90918insATTATA, NG_027746.2:g.90917_90918insAA

Select item 149143008114.

rs1491430081 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 5:172368630 (GRCh38)
5:171795634 (GRCh37)
Canonical SPDI:: NC_000005.10:172368629:AA:
Gene:: SH3PXD2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000005.10:g.172368630_172368631del, NC_000005.9:g.171795634_171795635del, NG_027746.2:g.90893_90894del

Select item 149141849915.

rs1491418499 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 5:172368687 (GRCh38)
5:171795692 (GRCh37)
Canonical SPDI:: NC_000005.10:172368687:A:ACA
Gene:: SH3PXD2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACA=0./0 (ALFA)
HGVS:: NC_000005.10:g.172368688_172368689insCA, NC_000005.9:g.171795692_171795693insCA, NG_027746.2:g.90836_90837insGT

Select item 149141676916.

rs1491416769 has merged into rs113765077 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:172389065 (GRCh38)
5:171816069 (GRCh37)
Canonical SPDI:: NC_000005.10:172389057:TTTTTTTTTTTTTTTT:TTTTTTT,NC_000005.10:172389057:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:172389057:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:172389057:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:172389057:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:172389057:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:172389057:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:172389057:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:172389057:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:172389057:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:172389057:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:172389057:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: SH3PXD2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.05167/31 (NorthernSweden)
-=0.15/6 (GENOME_DK)
HGVS:: NC_000005.10:g.172389065_172389073del, NC_000005.10:g.172389068_172389073del, NC_000005.10:g.172389070_172389073del, NC_000005.10:g.172389071_172389073del, NC_000005.10:g.172389072_172389073del, NC_000005.10:g.172389073del, NC_000005.10:g.172389073dup, NC_000005.10:g.172389072_172389073dup, NC_000005.10:g.172389071_172389073dup, NC_000005.10:g.172389070_172389073dup, NC_000005.10:g.172389068_172389073dup, NC_000005.10:g.172389067_172389073dup, NC_000005.9:g.171816069_171816077del, NC_000005.9:g.171816072_171816077del, NC_000005.9:g.171816074_171816077del, NC_000005.9:g.171816075_171816077del, NC_000005.9:g.171816076_171816077del, NC_000005.9:g.171816077del, NC_000005.9:g.171816077dup, NC_000005.9:g.171816076_171816077dup, NC_000005.9:g.171816075_171816077dup, NC_000005.9:g.171816074_171816077dup, NC_000005.9:g.171816072_171816077dup, NC_000005.9:g.171816071_171816077dup, NG_027746.2:g.70458_70466del, NG_027746.2:g.70461_70466del, NG_027746.2:g.70463_70466del, NG_027746.2:g.70464_70466del, NG_027746.2:g.70465_70466del, NG_027746.2:g.70466del, NG_027746.2:g.70466dup, NG_027746.2:g.70465_70466dup, NG_027746.2:g.70464_70466dup, NG_027746.2:g.70463_70466dup, NG_027746.2:g.70461_70466dup, NG_027746.2:g.70460_70466dup

Select item 149140501917.

rs1491405019 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 5:172389058 (GRCh38)
5:171816063 (GRCh37)
Canonical SPDI:: NC_000005.10:172389058::C
Gene:: SH3PXD2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.172389058_172389059insC, NC_000005.9:g.171816062_171816063insC, NG_027746.2:g.70465_70466insG

Select item 149140403118.

rs1491404031 has merged into rs61301407 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:172379078 (GRCh38)
5:171806082 (GRCh37)
Canonical SPDI:: NC_000005.10:172379069:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000005.10:172379069:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:172379069:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:172379069:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:172379069:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:172379069:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:172379069:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:172379069:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:172379069:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:172379069:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:172379069:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:172379069:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:172379069:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:172379069:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:172379069:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:172379069:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SH3PXD2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000005.10:g.172379078_172379091del, NC_000005.10:g.172379079_172379091del, NC_000005.10:g.172379081_172379091del, NC_000005.10:g.172379082_172379091del, NC_000005.10:g.172379085_172379091del, NC_000005.10:g.172379087_172379091del, NC_000005.10:g.172379088_172379091del, NC_000005.10:g.172379089_172379091del, NC_000005.10:g.172379090_172379091del, NC_000005.10:g.172379091del, NC_000005.10:g.172379091dup, NC_000005.10:g.172379090_172379091dup, NC_000005.10:g.172379089_172379091dup, NC_000005.10:g.172379088_172379091dup, NC_000005.10:g.172379087_172379091dup, NC_000005.10:g.172379086_172379091dup, NC_000005.9:g.171806082_171806095del, NC_000005.9:g.171806083_171806095del, NC_000005.9:g.171806085_171806095del, NC_000005.9:g.171806086_171806095del, NC_000005.9:g.171806089_171806095del, NC_000005.9:g.171806091_171806095del, NC_000005.9:g.171806092_171806095del, NC_000005.9:g.171806093_171806095del, NC_000005.9:g.171806094_171806095del, NC_000005.9:g.171806095del, NC_000005.9:g.171806095dup, NC_000005.9:g.171806094_171806095dup, NC_000005.9:g.171806093_171806095dup, NC_000005.9:g.171806092_171806095dup, NC_000005.9:g.171806091_171806095dup, NC_000005.9:g.171806090_171806095dup, NG_027746.2:g.80441_80454del, NG_027746.2:g.80442_80454del, NG_027746.2:g.80444_80454del, NG_027746.2:g.80445_80454del, NG_027746.2:g.80448_80454del, NG_027746.2:g.80450_80454del, NG_027746.2:g.80451_80454del, NG_027746.2:g.80452_80454del, NG_027746.2:g.80453_80454del, NG_027746.2:g.80454del, NG_027746.2:g.80454dup, NG_027746.2:g.80453_80454dup, NG_027746.2:g.80452_80454dup, NG_027746.2:g.80451_80454dup, NG_027746.2:g.80450_80454dup, NG_027746.2:g.80449_80454dup

Select item 149140365419.

rs1491403654 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 5:172368555 (GRCh38)
5:171795560 (GRCh37)
Canonical SPDI:: NC_000005.10:172368555:A:ACA
Gene:: SH3PXD2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACA=0./0 (ALFA)
HGVS:: NC_000005.10:g.172368556_172368557insCA, NC_000005.9:g.171795560_171795561insCA, NG_027746.2:g.90968_90969insGT

Select item 149139990120.

rs1491399901 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 5:172368514 (GRCh38)
5:171795518 (GRCh37)
Canonical SPDI:: NC_000005.10:172368511:AAAA:AA
Gene:: SH3PXD2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0.00025/3 (ALFA)
-=0.00115/25 (GnomAD)
HGVS:: NC_000005.10:g.172368514_172368515del, NC_000005.9:g.171795518_171795519del, NG_027746.2:g.91011_91012del

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