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Select item 14914770401.

rs1491477040 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:8010808 (GRCh38)
17:7914126 (GRCh37)
Canonical SPDI:: NC_000017.11:8010807:CA:
Gene:: GUCY2D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.8010808_8010809del, NC_000017.10:g.7914126_7914127del, NG_009092.1:g.13139_13140del

Select item 14913979452.

rs1491397945 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 17:8011981 (GRCh38)
17:7915299 (GRCh37)
Canonical SPDI:: NC_000017.11:8011979:TAT:T
Gene:: GUCY2D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.8011981_8011982del, NC_000017.10:g.7915299_7915300del, NG_009092.1:g.14312_14313del

Select item 14913613363.

rs1491361336 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 17:8011980 (GRCh38)
17:7915299 (GRCh37)
Canonical SPDI:: NC_000017.11:8011980:A:AA
Gene:: GUCY2D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.8011981dup, NC_000017.10:g.7915299dup, NG_009092.1:g.14312dup

Select item 14912954264.

rs1491295426 has merged into rs566986521 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:8010818 (GRCh38)
17:7914136 (GRCh37)
Canonical SPDI:: NC_000017.11:8010808:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:8010808:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:8010808:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:8010808:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:8010808:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:8010808:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:8010808:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:8010808:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:8010808:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:8010808:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:8010808:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8010808:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GUCY2D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.108/541 (1000Genomes)
HGVS:: NC_000017.11:g.8010818_8010826del, NC_000017.11:g.8010819_8010826del, NC_000017.11:g.8010820_8010826del, NC_000017.11:g.8010822_8010826del, NC_000017.11:g.8010823_8010826del, NC_000017.11:g.8010824_8010826del, NC_000017.11:g.8010825_8010826del, NC_000017.11:g.8010826del, NC_000017.11:g.8010826dup, NC_000017.11:g.8010825_8010826dup, NC_000017.11:g.8010824_8010826dup, NC_000017.11:g.8010820_8010826dup, NC_000017.10:g.7914136_7914144del, NC_000017.10:g.7914137_7914144del, NC_000017.10:g.7914138_7914144del, NC_000017.10:g.7914140_7914144del, NC_000017.10:g.7914141_7914144del, NC_000017.10:g.7914142_7914144del, NC_000017.10:g.7914143_7914144del, NC_000017.10:g.7914144del, NC_000017.10:g.7914144dup, NC_000017.10:g.7914143_7914144dup, NC_000017.10:g.7914142_7914144dup, NC_000017.10:g.7914138_7914144dup, NG_009092.1:g.13149_13157del, NG_009092.1:g.13150_13157del, NG_009092.1:g.13151_13157del, NG_009092.1:g.13153_13157del, NG_009092.1:g.13154_13157del, NG_009092.1:g.13155_13157del, NG_009092.1:g.13156_13157del, NG_009092.1:g.13157del, NG_009092.1:g.13157dup, NG_009092.1:g.13156_13157dup, NG_009092.1:g.13155_13157dup, NG_009092.1:g.13151_13157dup

Select item 14912749435.

rs1491274943 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 17:8020115 (GRCh38)
17:7923433 (GRCh37)
Canonical SPDI:: NC_000017.11:8020112:TGTG:TG
Gene:: GUCY2D (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TGTG=0./0 (ALFA)
-=0.00068/19 (TOMMO)
HGVS:: NC_000017.11:g.8020113TG[1], NC_000017.10:g.7923431TG[1], NG_009092.1:g.22444TG[1], XM_011523816.2:c.*3110TG[1], XM_011523816.1:c.*3110TG[1]

Select item 14911666946.

rs1491166694 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:8020113 (GRCh38)
17:7923432 (GRCh37)
Canonical SPDI:: NC_000017.11:8020113:G:GG
Gene:: GUCY2D (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000024/3 (GnomAD)
HGVS:: NC_000017.11:g.8020114dup, NC_000017.10:g.7923432dup, NG_009092.1:g.22445dup, XM_011523816.2:c.*3111dup, XM_011523816.1:c.*3111dup

Select item 14908814917.

rs1490881491 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:8003066 (GRCh38)
17:7906384 (GRCh37)
Canonical SPDI:: NC_000017.11:8003065:C:A
Gene:: GUCY2D (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.8003066C>A, NC_000017.10:g.7906384C>A, NG_009092.1:g.5397C>A, NM_000180.4:c.19C>A, NM_000180.3:c.19C>A, XM_011523816.2:c.19C>A, XM_011523816.1:c.19C>A

Select item 14907450498.

rs1490745049 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:8016882 (GRCh38)
17:7920200 (GRCh37)
Canonical SPDI:: NC_000017.11:8016881:G:A
Gene:: GUCY2D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.8016882G>A, NC_000017.10:g.7920200G>A, NG_009092.1:g.19213G>A

Select item 14907094419.

rs1490709441 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:8018023 (GRCh38)
17:7921341 (GRCh37)
Canonical SPDI:: NC_000017.11:8018022:G:A
Gene:: GUCY2D (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_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_000017.11:g.8018023G>A, NC_000017.10:g.7921341G>A, NG_009092.1:g.20354G>A, XM_011523816.2:c.*1020G>A, XM_011523816.1:c.*1020G>A

Select item 149053933510.

rs1490539335 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 17:8004794 (GRCh38)
17:7908112 (GRCh37)
Canonical SPDI:: NC_000017.11:8004793:AA:
Gene:: GUCY2D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000071/10 (GnomAD)
HGVS:: NC_000017.11:g.8004794_8004795del, NC_000017.10:g.7908112_7908113del, NG_009092.1:g.7125_7126del

Select item 149048340311.

rs1490483403 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:8009195 (GRCh38)
17:7912513 (GRCh37)
Canonical SPDI:: NC_000017.11:8009194:A:G
Gene:: GUCY2D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.8009195A>G, NC_000017.10:g.7912513A>G, NG_009092.1:g.11526A>G

Select item 149044328612.

rs1490443286 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:8015982 (GRCh38)
17:7919300 (GRCh37)
Canonical SPDI:: NC_000017.11:8015981:G:A
Gene:: GUCY2D (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.8015982G>A, NC_000017.10:g.7919300G>A, NG_009092.1:g.18313G>A, NM_000180.4:c.3099G>A, NM_000180.3:c.3099G>A, XM_011523816.2:c.3099G>A, XM_011523816.1:c.3099G>A

Select item 149014071813.

rs1490140718 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:8015620 (GRCh38)
17:7918938 (GRCh37)
Canonical SPDI:: NC_000017.11:8015619:C:A
Gene:: GUCY2D (Varview)
Functional Consequence:: intron_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_000017.11:g.8015620C>A, NC_000017.10:g.7918938C>A, NG_009092.1:g.17951C>A

Select item 149010188714.

rs1490101887 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:8016509 (GRCh38)
17:7919827 (GRCh37)
Canonical SPDI:: NC_000017.11:8016508:G:A
Gene:: GUCY2D (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000017/3 (GnomAD_exomes)
HGVS:: NC_000017.11:g.8016509G>A, NC_000017.10:g.7919827G>A, NG_009092.1:g.18840G>A, NM_000180.4:c.3291G>A, NM_000180.3:c.3291G>A, XM_011523816.2:c.3291G>A, XM_011523816.1:c.3291G>A

Select item 149007942015.

rs1490079420 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAGAGAGCCAATGGGGAGGGAGG [Show Flanks]
Chromosome:: 17:8006170 (GRCh38)
17:7909489 (GRCh37)
Canonical SPDI:: NC_000017.11:8006170:GAGAGAGCCAATGGGGAGGGAGG:GAGAGAGCCAATGGGGAGGGAGGGAGAGAGCCAATGGGGAGGGAGG
Gene:: GUCY2D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: GAGAGAGCCAATGGGGAGGGAGG=0.000157/22 (GnomAD)
GAGAGAGCCAATGGGGAGGGAGG=0.000937/6 (1000Genomes)
GAGAGAGCCAATGGGGAGGGAGG=0.00655/12 (Korea1K)
GAGAGAGCCAATGGGGAGGGAGG=0.006866/115 (TOMMO)
HGVS:: NC_000017.11:g.8006171_8006193dup, NC_000017.10:g.7909489_7909511dup, NG_009092.1:g.8502_8524dup

Select item 148943748216.

rs1489437482 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:8018073 (GRCh38)
17:7921391 (GRCh37)
Canonical SPDI:: NC_000017.11:8018072:T:C
Gene:: GUCY2D (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000017.11:g.8018073T>C, NC_000017.10:g.7921391T>C, NG_009092.1:g.20404T>C, XM_011523816.2:c.*1070T>C, XM_011523816.1:c.*1070T>C

Select item 148940130817.

rs1489401308 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:8006409 (GRCh38)
17:7909727 (GRCh37)
Canonical SPDI:: NC_000017.11:8006408:C:T
Gene:: GUCY2D (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.8006409C>T, NC_000017.10:g.7909727C>T, NG_009092.1:g.8740C>T, NM_000180.4:c.1073C>T, NM_000180.3:c.1073C>T, XM_011523816.2:c.1073C>T, XM_011523816.1:c.1073C>T, NP_000171.1:p.Ala358Val, XP_011522118.1:p.Ala358Val

Select item 148938693218.

rs1489386932 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:8007363 (GRCh38)
17:7910681 (GRCh37)
Canonical SPDI:: NC_000017.11:8007362:C:G,NC_000017.11:8007362:C:T
Gene:: GUCY2D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.8007363C>G, NC_000017.11:g.8007363C>T, NC_000017.10:g.7910681C>G, NC_000017.10:g.7910681C>T, NG_009092.1:g.9694C>G, NG_009092.1:g.9694C>T

Select item 148921023319.

rs1489210233 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:8014014 (GRCh38)
17:7917332 (GRCh37)
Canonical SPDI:: NC_000017.11:8014013:C:T
Gene:: GUCY2D (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.8014014C>T, NC_000017.10:g.7917332C>T, NG_009092.1:g.16345C>T, NM_000180.4:c.2398C>T, NM_000180.3:c.2398C>T, XM_011523816.2:c.2398C>T, XM_011523816.1:c.2398C>T, NP_000171.1:p.His800Tyr, XP_011522118.1:p.His800Tyr

Select item 148900708320.

rs1489007083 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:8006636 (GRCh38)
17:7909954 (GRCh37)
Canonical SPDI:: NC_000017.11:8006635:A:C
Gene:: GUCY2D (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000546/1 (Korea1K)
HGVS:: NC_000017.11:g.8006636A>C, NC_000017.10:g.7909954A>C, NG_009092.1:g.8967A>C, NM_000180.4:c.1300A>C, NM_000180.3:c.1300A>C, XM_011523816.2:c.1300A>C, XM_011523816.1:c.1300A>C, NP_000171.1:p.Met434Leu, XP_011522118.1:p.Met434Leu

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