SNP Links for Gene (Select 101928521) - SNP

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Select item 14892912141.

rs1489291214 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:653373 (GRCh38)
4:647162 (GRCh37)
Canonical SPDI:: NC_000004.12:653372:G:A
Gene:: PDE6B (Varview), PDE6B-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.653373G>A, NC_000004.11:g.647162G>A, NG_009839.1:g.32800G>A, XR_246615.4:n.4457C>T, XR_246615.3:n.1781C>T, XR_246615.2:n.1539C>T, XR_246615.1:n.1304C>T, XR_001741541.2:n.644C>T, XR_001741541.1:n.1632C>T

Select item 14888496392.

rs1488849639 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:657218 (GRCh38)
4:651007 (GRCh37)
Canonical SPDI:: NC_000004.12:657217:C:G
Gene:: PDE6B (Varview), PDE6B-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.657218C>G, NC_000004.11:g.651007C>G, NG_009839.1:g.36645C>G, XR_246615.4:n.1647G>C

Select item 14877004903.

rs1487700490 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:656680 (GRCh38)
4:650469 (GRCh37)
Canonical SPDI:: NC_000004.12:656679:A:G
Gene:: PDE6B (Varview), PDE6B-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_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_000004.12:g.656680A>G, NC_000004.11:g.650469A>G, NG_009839.1:g.36107A>G, XR_246615.4:n.2185T>C

Select item 14873236204.

rs1487323620 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:652446 (GRCh38)
4:646235 (GRCh37)
Canonical SPDI:: NC_000004.12:652445:G:A
Gene:: PDE6B (Varview), PDE6B-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,5_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000034/9 (TOPMED)
HGVS:: NC_000004.12:g.652446G>A, NC_000004.11:g.646235G>A, NG_009839.1:g.31873G>A, NM_001379246.1:c.-234G>A, XM_047415775.1:c.-234G>A

Select item 14873069675.

rs1487306967 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:654397 (GRCh38)
4:648186 (GRCh37)
Canonical SPDI:: NC_000004.12:654396:T:A
Gene:: PDE6B (Varview), PDE6B-AS1 (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_000004.12:g.654397T>A, NC_000004.11:g.648186T>A, NG_009839.1:g.33824T>A

Select item 14870374676.

rs1487037467 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:655739 (GRCh38)
4:649528 (GRCh37)
Canonical SPDI:: NC_000004.12:655738:A:C
Gene:: PDE6B (Varview), PDE6B-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.655739A>C, NC_000004.11:g.649528A>C, NG_009839.1:g.35166A>C, XR_246615.4:n.3126T>G, XR_246615.3:n.450T>G, XR_246615.2:n.208T>G

Select item 14852253127.

rs1485225312 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:655546 (GRCh38)
4:649335 (GRCh37)
Canonical SPDI:: NC_000004.12:655545:A:C
Gene:: PDE6B (Varview), PDE6B-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000004.12:g.655546A>C, NC_000004.11:g.649335A>C, NG_009839.1:g.34973A>C, XR_246615.4:n.3319T>G, XR_246615.3:n.643T>G, XR_246615.2:n.401T>G, XR_246615.1:n.166T>G

Select item 14850675388.

rs1485067538 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 4:655277 (GRCh38)
4:649066 (GRCh37)
Canonical SPDI:: NC_000004.12:655275:GAG:G
Gene:: PDE6B (Varview), PDE6B-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.000086/12 (GnomAD)
-=0.000087/23 (TOPMED)
HGVS:: NC_000004.12:g.655277_655278del, NC_000004.11:g.649066_649067del, NG_009839.1:g.34704_34705del, XR_246615.4:n.3588_3589del, XR_246615.3:n.912_913del, XR_246615.2:n.670_671del, XR_246615.1:n.435_436del

Select item 14847362569.

rs1484736256 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:654328 (GRCh38)
4:648117 (GRCh37)
Canonical SPDI:: NC_000004.12:654327:A:G
Gene:: PDE6B (Varview), PDE6B-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.654328A>G, NC_000004.11:g.648117A>G, NG_009839.1:g.33755A>G

Select item 148434996010.

rs1484349960 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:654391 (GRCh38)
4:648180 (GRCh37)
Canonical SPDI:: NC_000004.12:654390:G:A
Gene:: PDE6B (Varview), PDE6B-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
A=0.00002/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.654391G>A, NC_000004.11:g.648180G>A, NG_009839.1:g.33818G>A

Select item 148393848611.

rs1483938486 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:655716 (GRCh38)
4:649505 (GRCh37)
Canonical SPDI:: NC_000004.12:655715:C:A,NC_000004.12:655715:C:T
Gene:: PDE6B (Varview), PDE6B-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000004.12:g.655716C>A, NC_000004.12:g.655716C>T, NC_000004.11:g.649505C>A, NC_000004.11:g.649505C>T, NG_009839.1:g.35143C>A, NG_009839.1:g.35143C>T, XR_246615.4:n.3149G>T, XR_246615.4:n.3149G>A, XR_246615.3:n.473G>T, XR_246615.3:n.473G>A, XR_246615.2:n.231G>T, XR_246615.2:n.231G>A

Select item 148315643612.

rs1483156436 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 4:657354 (GRCh38)
4:651143 (GRCh37)
Canonical SPDI:: NC_000004.12:657353:C:A,NC_000004.12:657353:C:G,NC_000004.12:657353:C:T
Gene:: PDE6B (Varview), PDE6B-AS1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.657354C>A, NC_000004.12:g.657354C>G, NC_000004.12:g.657354C>T, NC_000004.11:g.651143C>A, NC_000004.11:g.651143C>G, NC_000004.11:g.651143C>T, NG_009839.1:g.36781C>A, NG_009839.1:g.36781C>G, NG_009839.1:g.36781C>T, NM_000283.4:c.1261C>A, NM_000283.4:c.1261C>G, NM_000283.4:c.1261C>T, NM_000283.3:c.1261C>A, NM_000283.3:c.1261C>G, NM_000283.3:c.1261C>T, NM_001350154.3:c.424C>A, NM_001350154.3:c.424C>G, NM_001350154.3:c.424C>T, NM_001350154.2:c.424C>A, NM_001350154.2:c.424C>G, NM_001350154.2:c.424C>T, NM_001350154.1:c.424C>A, NM_001350154.1:c.424C>G, NM_001350154.1:c.424C>T, NM_001350155.3:c.106C>A, NM_001350155.3:c.106C>G, NM_001350155.3:c.106C>T, NM_001350155.2:c.106C>A, NM_001350155.2:c.106C>G, NM_001350155.2:c.106C>T, NM_001350155.1:c.106C>A, NM_001350155.1:c.106C>G, NM_001350155.1:c.106C>T, NM_001145291.2:c.1261C>A, NM_001145291.2:c.1261C>G, NM_001145291.2:c.1261C>T, NM_001145291.1:c.1261C>A, NM_001145291.1:c.1261C>G, NM_001145291.1:c.1261C>T, NM_001145292.2:c.424C>A, NM_001145292.2:c.424C>G, NM_001145292.2:c.424C>T, NM_001145292.1:c.424C>A, NM_001145292.1:c.424C>G, NM_001145292.1:c.424C>T, NM_001379246.1:c.424C>A, NM_001379246.1:c.424C>G, NM_001379246.1:c.424C>T, NM_001379247.1:c.424C>A, NM_001379247.1:c.424C>G, NM_001379247.1:c.424C>T, XR_246615.4:n.1511G>T, XR_246615.4:n.1511G>C, XR_246615.4:n.1511G>A, XM_011513473.4:c.1261C>A, XM_011513473.4:c.1261C>G, XM_011513473.4:c.1261C>T, XM_011513473.3:c.1480C>A, XM_011513473.3:c.1480C>G, XM_011513473.3:c.1480C>T, XM_011513473.2:c.1480C>A, XM_011513473.2:c.1480C>G, XM_011513473.2:c.1480C>T, XM_011513473.1:c.1480C>A, XM_011513473.1:c.1480C>G, XM_011513473.1:c.1480C>T, XM_047415773.1:c.1261C>A, XM_047415773.1:c.1261C>G, XM_047415773.1:c.1261C>T, XM_047415772.1:c.1261C>A, XM_047415772.1:c.1261C>G, XM_047415772.1:c.1261C>T, XM_047415775.1:c.424C>A, XM_047415775.1:c.424C>G, XM_047415775.1:c.424C>T, XM_047415774.1:c.1261C>A, XM_047415774.1:c.1261C>G, XM_047415774.1:c.1261C>T, XM_047415777.1:c.424C>A, XM_047415777.1:c.424C>G, XM_047415777.1:c.424C>T, XM_047415776.1:c.424C>A, XM_047415776.1:c.424C>G, XM_047415776.1:c.424C>T, NP_000274.3:p.Leu421Met, NP_000274.3:p.Leu421Val, NP_001337083.1:p.Leu142Met, NP_001337083.1:p.Leu142Val, NP_001337084.1:p.Leu36Met, NP_001337084.1:p.Leu36Val, NP_001138763.2:p.Leu421Met, NP_001138763.2:p.Leu421Val, NP_001138764.2:p.Leu142Met, NP_001138764.2:p.Leu142Val, NP_001366175.1:p.Leu142Met, NP_001366175.1:p.Leu142Val, NP_001366176.1:p.Leu142Met, NP_001366176.1:p.Leu142Val, XP_011511775.2:p.Leu421Met, XP_011511775.2:p.Leu421Val, XP_047271729.1:p.Leu421Met, XP_047271729.1:p.Leu421Val, XP_047271728.1:p.Leu421Met, XP_047271728.1:p.Leu421Val, XP_047271731.1:p.Leu142Met, XP_047271731.1:p.Leu142Val, XP_047271730.1:p.Leu421Met, XP_047271730.1:p.Leu421Val, XP_047271733.1:p.Leu142Met, XP_047271733.1:p.Leu142Val, XP_047271732.1:p.Leu142Met, XP_047271732.1:p.Leu142Val

Select item 148311801413.

rs1483118014 [Homo sapiens]

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

Select item 148183129114.

rs1481831291 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:657998 (GRCh38)
4:651787 (GRCh37)
Canonical SPDI:: NC_000004.12:657997:G:A
Gene:: PDE6B (Varview), PDE6B-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000496/14 (TOMMO)
HGVS:: NC_000004.12:g.657998G>A, NC_000004.11:g.651787G>A, NG_009839.1:g.37425G>A, XR_246615.4:n.867C>T

Select item 148180059815.

rs1481800598 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:656810 (GRCh38)
4:650599 (GRCh37)
Canonical SPDI:: NC_000004.12:656809:G:A
Gene:: PDE6B (Varview), PDE6B-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000108/2 (ALFA)
A=0.00003/8 (TOPMED)
A=0.00005/7 (GnomAD)
A=0.000071/1 (TOMMO)
A=0.00067/3 (Estonian)
HGVS:: NC_000004.12:g.656810G>A, NC_000004.11:g.650599G>A, NG_009839.1:g.36237G>A, XR_246615.4:n.2055C>T

Select item 148178997316.

rs1481789973 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:653551 (GRCh38)
4:647340 (GRCh37)
Canonical SPDI:: NC_000004.12:653550:G:A
Gene:: PDE6B (Varview), PDE6B-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_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_000004.12:g.653551G>A, NC_000004.11:g.647340G>A, NG_009839.1:g.32978G>A, XR_246615.4:n.4279C>T, XR_246615.3:n.1603C>T, XR_246615.2:n.1361C>T, XR_246615.1:n.1126C>T, XR_001741541.2:n.466C>T, XR_001741541.1:n.1454C>T

Select item 148025461417.

rs1480254614 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 4:653203 (GRCh38)
4:646992 (GRCh37)
Canonical SPDI:: NC_000004.12:653202:A:C,NC_000004.12:653202:A:G
Gene:: PDE6B (Varview), PDE6B-AS1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
C=0.002183/4 (Korea1K)
HGVS:: NC_000004.12:g.653203A>C, NC_000004.12:g.653203A>G, NC_000004.11:g.646992A>C, NC_000004.11:g.646992A>G, NG_009839.1:g.32630A>C, NG_009839.1:g.32630A>G, NM_001350154.3:c.-243A>C, NM_001350154.3:c.-243A>G, NM_001350154.2:c.-243A>C, NM_001350154.2:c.-243A>G, NM_001350154.1:c.-243A>C, NM_001350154.1:c.-243A>G, NM_001350155.3:c.-446A>C, NM_001350155.3:c.-446A>G, NM_001350155.2:c.-446A>C, NM_001350155.2:c.-446A>G, NM_001350155.1:c.-446A>C, NM_001350155.1:c.-446A>G, NM_001145292.2:c.-243A>C, NM_001145292.2:c.-243A>G, NM_001145292.1:c.-243A>C, NM_001145292.1:c.-243A>G, XR_246615.4:n.4627T>G, XR_246615.4:n.4627T>C, XR_246615.3:n.1951T>G, XR_246615.3:n.1951T>C, XR_246615.2:n.1709T>G, XR_246615.2:n.1709T>C, XR_001741541.2:n.814T>G, XR_001741541.2:n.814T>C, XR_001741541.1:n.1802T>G, XR_001741541.1:n.1802T>C, XM_047415777.1:c.-243A>C, XM_047415777.1:c.-243A>G

Select item 147984842118.

rs1479848421 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:658144 (GRCh38)
4:651933 (GRCh37)
Canonical SPDI:: NC_000004.12:658143:G:A
Gene:: PDE6B (Varview), PDE6B-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/2 (GnomAD)
HGVS:: NC_000004.12:g.658144G>A, NC_000004.11:g.651933G>A, NG_009839.1:g.37571G>A

Select item 147972814519.

rs1479728145 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:656483 (GRCh38)
4:650272 (GRCh37)
Canonical SPDI:: NC_000004.12:656482:C:G,NC_000004.12:656482:C:T
Gene:: PDE6B (Varview), PDE6B-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000004.12:g.656483C>G, NC_000004.12:g.656483C>T, NC_000004.11:g.650272C>G, NC_000004.11:g.650272C>T, NG_009839.1:g.35910C>G, NG_009839.1:g.35910C>T, XR_246615.4:n.2382G>C, XR_246615.4:n.2382G>A

Select item 147959118320.

rs1479591183 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:656072 (GRCh38)
4:649861 (GRCh37)
Canonical SPDI:: NC_000004.12:656071:T:C
Gene:: PDE6B (Varview), PDE6B-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.656072T>C, NC_000004.11:g.649861T>C, NG_009839.1:g.35499T>C, XR_246615.4:n.2793A>G, XR_246615.3:n.117A>G

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