SNP Links for Gene (Select 729603) - SNP

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Select item 14905166121.

rs1490516612 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:160093212 (GRCh38)
6:160514244 (GRCh37)
Canonical SPDI:: NC_000006.12:160093211:C:G,NC_000006.12:160093211:C:T
Gene:: IGF2R (Varview), CHP1P2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.160093212C>G, NC_000006.12:g.160093212C>T, NC_000006.11:g.160514244C>G, NC_000006.11:g.160514244C>T, NG_011785.4:g.129114C>G, NG_011785.4:g.129114C>T, NR_003288.2:n.131C>G, NR_003288.2:n.131C>T

Select item 14903400812.

rs1490340081 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:160095920 (GRCh38)
6:160516952 (GRCh37)
Canonical SPDI:: NC_000006.12:160095919:C:G
Gene:: IGF2R (Varview), CHP1P2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.160095920C>G, NC_000006.11:g.160516952C>G, NG_011785.4:g.131822C>G, NR_003288.2:n.2839C>G

Select item 14902440653.

rs1490244065 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:160091441 (GRCh38)
6:160512473 (GRCh37)
Canonical SPDI:: NC_000006.12:160091440:C:T
Gene:: IGF2R (Varview), CHP1P2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.160091441C>T, NC_000006.11:g.160512473C>T, NG_011785.4:g.127343C>T

Select item 14898458234.

rs1489845823 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:160093616 (GRCh38)
6:160514648 (GRCh37)
Canonical SPDI:: NC_000006.12:160093615:C:T
Gene:: IGF2R (Varview), CHP1P2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
T=0.000546/1 (Korea1K)
HGVS:: NC_000006.12:g.160093616C>T, NC_000006.11:g.160514648C>T, NG_011785.4:g.129518C>T, NR_003288.2:n.535C>T

Select item 14890055125.

rs1489005512 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:160096047 (GRCh38)
6:160517079 (GRCh37)
Canonical SPDI:: NC_000006.12:160096046:C:T
Gene:: IGF2R (Varview), CHP1P2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.160096047C>T, NC_000006.11:g.160517079C>T, NG_011785.4:g.131949C>T, NR_003288.2:n.2966C>T

Select item 14885952906.

rs1488595290 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:160096357 (GRCh38)
6:160517389 (GRCh37)
Canonical SPDI:: NC_000006.12:160096356:T:A
Gene:: IGF2R (Varview), CHP1P2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000034/9 (TOPMED)
HGVS:: NC_000006.12:g.160096357T>A, NC_000006.11:g.160517389T>A, NG_011785.4:g.132259T>A

Select item 14874285767.

rs1487428576 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:160095827 (GRCh38)
6:160516859 (GRCh37)
Canonical SPDI:: NC_000006.12:160095826:T:A
Gene:: IGF2R (Varview), CHP1P2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.160095827T>A, NC_000006.11:g.160516859T>A, NG_011785.4:g.131729T>A, NR_003288.2:n.2746T>A

Select item 14866255958.

rs1486625595 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:160091120 (GRCh38)
6:160512152 (GRCh37)
Canonical SPDI:: NC_000006.12:160091119:G:A,NC_000006.12:160091119:G:T
Gene:: IGF2R (Varview), CHP1P2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000024/3 (GnomAD)
HGVS:: NC_000006.12:g.160091120G>A, NC_000006.12:g.160091120G>T, NC_000006.11:g.160512152G>A, NC_000006.11:g.160512152G>T, NG_011785.4:g.127022G>A, NG_011785.4:g.127022G>T

Select item 14851845069.

rs1485184506 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:160093506 (GRCh38)
6:160514538 (GRCh37)
Canonical SPDI:: NC_000006.12:160093505:A:G
Gene:: IGF2R (Varview), CHP1P2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.160093506A>G, NC_000006.11:g.160514538A>G, NG_011785.4:g.129408A>G, NR_003288.2:n.425A>G

Select item 148490776210.

rs1484907762 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 6:160094938 (GRCh38)
6:160515970 (GRCh37)
Canonical SPDI:: NC_000006.12:160094937:T:A,NC_000006.12:160094937:T:C
Gene:: IGF2R (Varview), CHP1P2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.160094938T>A, NC_000006.12:g.160094938T>C, NC_000006.11:g.160515970T>A, NC_000006.11:g.160515970T>C, NG_011785.4:g.130840T>A, NG_011785.4:g.130840T>C, NR_003288.2:n.1857T>A, NR_003288.2:n.1857T>C

Select item 148438323611.

rs1484383236 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTG>-,CTTGCTTG [Show Flanks]
Chromosome:: 6:160095818 (GRCh38)
6:160516850 (GRCh37)
Canonical SPDI:: NC_000006.12:160095807:TGCTTGCTTGCTTG:TGCTTGCTTG,NC_000006.12:160095807:TGCTTGCTTGCTTG:TGCTTGCTTGCTTGCTTG
Gene:: IGF2R (Varview), CHP1P2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGCTTGCTTG=0./0 (ALFA)
-=0.000011/3 (TOPMED)
TGCT=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.160095810CTTG[2], NC_000006.12:g.160095810CTTG[4], NC_000006.11:g.160516842CTTG[2], NC_000006.11:g.160516842CTTG[4], NG_011785.4:g.131712CTTG[2], NG_011785.4:g.131712CTTG[4], NR_003288.2:n.2729CTTG[2], NR_003288.2:n.2729CTTG[4]

Select item 148437537412.

rs1484375374 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:160093413 (GRCh38)
6:160514445 (GRCh37)
Canonical SPDI:: NC_000006.12:160093412:C:T
Gene:: IGF2R (Varview), CHP1P2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.160093413C>T, NC_000006.11:g.160514445C>T, NG_011785.4:g.129315C>T, NR_003288.2:n.332C>T

Select item 148415416613.

rs1484154166 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:160093316 (GRCh38)
6:160514348 (GRCh37)
Canonical SPDI:: NC_000006.12:160093315:A:G
Gene:: IGF2R (Varview), CHP1P2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.160093316A>G, NC_000006.11:g.160514348A>G, NG_011785.4:g.129218A>G, NR_003288.2:n.235A>G

Select item 148382316514.

rs1483823165 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:160092579 (GRCh38)
6:160513611 (GRCh37)
Canonical SPDI:: NC_000006.12:160092578:A:T
Gene:: IGF2R (Varview), CHP1P2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.160092579A>T, NC_000006.11:g.160513611A>T, NG_011785.4:g.128481A>T

Select item 148346322015.

rs1483463220 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:160093442 (GRCh38)
6:160514474 (GRCh37)
Canonical SPDI:: NC_000006.12:160093441:T:G
Gene:: IGF2R (Varview), CHP1P2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.160093442T>G, NC_000006.11:g.160514474T>G, NG_011785.4:g.129344T>G, NR_003288.2:n.361T>G

Select item 148244860116.

rs1482448601 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:160093335 (GRCh38)
6:160514367 (GRCh37)
Canonical SPDI:: NC_000006.12:160093334:C:T
Gene:: IGF2R (Varview), CHP1P2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.160093335C>T, NC_000006.11:g.160514367C>T, NG_011785.4:g.129237C>T, NR_003288.2:n.254C>T

Select item 148182660517.

rs1481826605 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:160094485 (GRCh38)
6:160515517 (GRCh37)
Canonical SPDI:: NC_000006.12:160094484:T:C
Gene:: IGF2R (Varview), CHP1P2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000006.12:g.160094485T>C, NC_000006.11:g.160515517T>C, NG_011785.4:g.130387T>C, NR_003288.2:n.1404T>C

Select item 148166971118.

rs1481669711 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:160091312 (GRCh38)
6:160512344 (GRCh37)
Canonical SPDI:: NC_000006.12:160091311:T:C
Gene:: IGF2R (Varview), CHP1P2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.160091312T>C, NC_000006.11:g.160512344T>C, NG_011785.4:g.127214T>C

Select item 148134822819.

rs1481348228 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:160095566 (GRCh38)
6:160516598 (GRCh37)
Canonical SPDI:: NC_000006.12:160095565:C:T
Gene:: IGF2R (Varview), CHP1P2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.160095566C>T, NC_000006.11:g.160516598C>T, NG_011785.4:g.131468C>T, NR_003288.2:n.2485C>T

Select item 148077112420.

rs1480771124 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:160094324 (GRCh38)
6:160515356 (GRCh37)
Canonical SPDI:: NC_000006.12:160094323:A:G
Gene:: IGF2R (Varview), CHP1P2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.160094324A>G, NC_000006.11:g.160515356A>G, NG_011785.4:g.130226A>G, NR_003288.2:n.1243A>G

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