SNP Links for Gene (Select 5148) - SNP

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Select item 14915814551.

rs1491581455 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 17:81650223 (GRCh38)
17:79617253 (GRCh37)
Canonical SPDI:: NC_000017.11:81650222:TC:
Gene:: PDE6G (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.015552/254 (ALFA)
-=0.010491/47 (Estonian)
-=0.013117/84 (1000Genomes)
-=0.014709/2063 (GnomAD)
-=0.015/9 (NorthernSweden)
HGVS:: NC_000017.11:g.81650223_81650224del, NC_000017.10:g.79617253_79617254del, NG_009834.2:g.18195_18196del

Select item 14915681512.

rs1491568151 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 17:81654378 (GRCh38)
17:79621409 (GRCh37)
Canonical SPDI:: NC_000017.11:81654378::A
Gene:: PDE6G (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.007296/813 (GnomAD)
HGVS:: NC_000017.11:g.81654378_81654379insA, NC_000017.10:g.79621408_79621409insA, NG_009834.2:g.14040_14041insT

Select item 14914772053.

rs1491477205 has merged into rs33915100 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:81661871 (GRCh38)
17:79628901 (GRCh37)
Canonical SPDI:: NC_000017.11:81661858:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:81661858:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:81661858:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:81661858:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:81661858:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:81661858:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:81661858:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:81661858:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:81661858:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:81661858:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:81661858:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:81661858:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:81661858:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:81661858:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PDE6G (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.81661871_81661881del, NC_000017.11:g.81661872_81661881del, NC_000017.11:g.81661874_81661881del, NC_000017.11:g.81661875_81661881del, NC_000017.11:g.81661876_81661881del, NC_000017.11:g.81661877_81661881del, NC_000017.11:g.81661878_81661881del, NC_000017.11:g.81661879_81661881del, NC_000017.11:g.81661880_81661881del, NC_000017.11:g.81661881del, NC_000017.11:g.81661881dup, NC_000017.11:g.81661880_81661881dup, NC_000017.11:g.81661879_81661881dup, NC_000017.11:g.81661878_81661881dup, NC_000017.10:g.79628901_79628911del, NC_000017.10:g.79628902_79628911del, NC_000017.10:g.79628904_79628911del, NC_000017.10:g.79628905_79628911del, NC_000017.10:g.79628906_79628911del, NC_000017.10:g.79628907_79628911del, NC_000017.10:g.79628908_79628911del, NC_000017.10:g.79628909_79628911del, NC_000017.10:g.79628910_79628911del, NC_000017.10:g.79628911del, NC_000017.10:g.79628911dup, NC_000017.10:g.79628910_79628911dup, NC_000017.10:g.79628909_79628911dup, NC_000017.10:g.79628908_79628911dup, NG_009834.2:g.6550_6560del, NG_009834.2:g.6551_6560del, NG_009834.2:g.6553_6560del, NG_009834.2:g.6554_6560del, NG_009834.2:g.6555_6560del, NG_009834.2:g.6556_6560del, NG_009834.2:g.6557_6560del, NG_009834.2:g.6558_6560del, NG_009834.2:g.6559_6560del, NG_009834.2:g.6560del, NG_009834.2:g.6560dup, NG_009834.2:g.6559_6560dup, NG_009834.2:g.6558_6560dup, NG_009834.2:g.6557_6560dup

Select item 14914576524.

rs1491457652 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:81654379 (GRCh38)
17:79621409 (GRCh37)
Canonical SPDI:: NC_000017.11:81654377:TCT:T
Gene:: PDE6G (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.002192/26 (ALFA)
-=0.002374/272 (GnomAD)
HGVS:: NC_000017.11:g.81654379_81654380del, NC_000017.10:g.79621409_79621410del, NG_009834.2:g.14040_14041del

Select item 14914369695.

rs1491436969 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AC,GC [Show Flanks]
Chromosome:: 17:81656980 (GRCh38)
17:79624011 (GRCh37)
Canonical SPDI:: NC_000017.11:81656980:C:CAC,NC_000017.11:81656980:C:CGC
Gene:: PDE6G (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGC=0./0 (ALFA)
CA=0.000011/1 (GnomAD)
CG=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.81656981_81656982insAC, NC_000017.11:g.81656981_81656982insGC, NC_000017.10:g.79624011_79624012insAC, NC_000017.10:g.79624011_79624012insGC, NG_009834.2:g.11438_11439insTG, NG_009834.2:g.11438_11439insCG

Select item 14912163896.

rs1491216389 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:81661858 (GRCh38)
17:79628888 (GRCh37)
Canonical SPDI:: NC_000017.11:81661857:CA:
Gene:: PDE6G (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.81661858_81661859del, NC_000017.10:g.79628888_79628889del, NG_009834.2:g.6560_6561del

Select item 14910151997.

rs1491015199 has merged into rs11431043 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:81654389 (GRCh38)
17:79621419 (GRCh37)
Canonical SPDI:: NC_000017.11:81654379:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:81654379:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:81654379:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:81654379:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:81654379:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:81654379:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:81654379:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:81654379:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:81654379:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:81654379:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:81654379:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:81654379:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PDE6G (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.81654389_81654397del, NC_000017.11:g.81654394_81654397del, NC_000017.11:g.81654395_81654397del, NC_000017.11:g.81654396_81654397del, NC_000017.11:g.81654397del, NC_000017.11:g.81654397dup, NC_000017.11:g.81654396_81654397dup, NC_000017.11:g.81654395_81654397dup, NC_000017.11:g.81654394_81654397dup, NC_000017.11:g.81654393_81654397dup, NC_000017.11:g.81654391_81654397dup, NC_000017.11:g.81654388_81654397dup, NC_000017.10:g.79621419_79621427del, NC_000017.10:g.79621424_79621427del, NC_000017.10:g.79621425_79621427del, NC_000017.10:g.79621426_79621427del, NC_000017.10:g.79621427del, NC_000017.10:g.79621427dup, NC_000017.10:g.79621426_79621427dup, NC_000017.10:g.79621425_79621427dup, NC_000017.10:g.79621424_79621427dup, NC_000017.10:g.79621423_79621427dup, NC_000017.10:g.79621421_79621427dup, NC_000017.10:g.79621418_79621427dup, NG_009834.2:g.14031_14039del, NG_009834.2:g.14036_14039del, NG_009834.2:g.14037_14039del, NG_009834.2:g.14038_14039del, NG_009834.2:g.14039del, NG_009834.2:g.14039dup, NG_009834.2:g.14038_14039dup, NG_009834.2:g.14037_14039dup, NG_009834.2:g.14036_14039dup, NG_009834.2:g.14035_14039dup, NG_009834.2:g.14033_14039dup, NG_009834.2:g.14030_14039dup

Select item 14907279678.

rs1490727967 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:81657917 (GRCh38)
17:79624947 (GRCh37)
Canonical SPDI:: NC_000017.11:81657916:A:C
Gene:: PDE6G (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.81657917A>C, NC_000017.10:g.79624947A>C, NG_009834.2:g.10502T>G

Select item 14907077339.

rs1490707733 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81657092 (GRCh38)
17:79624122 (GRCh37)
Canonical SPDI:: NC_000017.11:81657091:C:T
Gene:: PDE6G (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_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_000017.11:g.81657092C>T, NC_000017.10:g.79624122C>T, NG_009834.2:g.11327G>A

Select item 149055094710.

rs1490550947 [Homo sapiens]

Variant type:: DEL
Alleles:: TCCTAGGGGGCTACTTTGGCAGGTATTAAAACTTTTTTTTAGGCCGGGCG>- [Show Flanks]
Chromosome:: 17:81652804 (GRCh38)
17:79619834 (GRCh37)
Canonical SPDI:: NC_000017.11:81652803:TCCTAGGGGGCTACTTTGGCAGGTATTAAAACTTTTTTTTAGGCCGGGCG:
Gene:: PDE6G (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.00117/51 (GnomAD)
HGVS:: NC_000017.11:g.81652804_81652853del, NC_000017.10:g.79619834_79619883del, NG_009834.2:g.15566_15615del

Select item 149052494511.

rs1490524945 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:81663940 (GRCh38)
17:79630970 (GRCh37)
Canonical SPDI:: NC_000017.11:81663939:A:G
Gene:: PDE6G (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.81663940A>G, NC_000017.10:g.79630970A>G, NG_009834.2:g.4479T>C

Select item 149051557812.

rs1490515578 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81654538 (GRCh38)
17:79621568 (GRCh37)
Canonical SPDI:: NC_000017.11:81654537:C:T
Gene:: PDE6G (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.81654538C>T, NC_000017.10:g.79621568C>T, NG_009834.2:g.13881G>A

Select item 149022135813.

rs1490221358 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81656674 (GRCh38)
17:79623704 (GRCh37)
Canonical SPDI:: NC_000017.11:81656673:G:A
Gene:: PDE6G (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.81656674G>A, NC_000017.10:g.79623704G>A, NG_009834.2:g.11745C>T

Select item 149018095614.

rs1490180956 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 17:81663419 (GRCh38)
17:79630449 (GRCh37)
Canonical SPDI:: NC_000017.11:81663418:C:A,NC_000017.11:81663418:C:G,NC_000017.11:81663418:C:T
Gene:: PDE6G (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
G=0.003275/6 (Korea1K)
HGVS:: NC_000017.11:g.81663419C>A, NC_000017.11:g.81663419C>G, NC_000017.11:g.81663419C>T, NC_000017.10:g.79630449C>A, NC_000017.10:g.79630449C>G, NC_000017.10:g.79630449C>T, NG_009834.2:g.5000G>T, NG_009834.2:g.5000G>C, NG_009834.2:g.5000G>A

Select item 148986067015.

rs1489860670 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:81650594 (GRCh38)
17:79617624 (GRCh37)
Canonical SPDI:: NC_000017.11:81650593:T:C
Gene:: PDE6G (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.81650594T>C, NC_000017.10:g.79617624T>C, NG_009834.2:g.17825A>G, NM_002602.4:c.*480A>G, NM_002602.3:c.*480A>G, NR_026872.2:n.648A>G, NR_026872.1:n.683A>G, NM_001365724.1:c.*480A>G, NM_001365725.1:c.*480A>G, NR_158591.1:n.667A>G, XM_017024736.2:c.*480A>G, XM_017024736.1:c.*480A>G

Select item 148960041916.

rs1489600419 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:81653822 (GRCh38)
17:79620852 (GRCh37)
Canonical SPDI:: NC_000017.11:81653821:G:T
Gene:: PDE6G (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.81653822G>T, NC_000017.10:g.79620852G>T, NG_009834.2:g.14597C>A

Select item 148954661017.

rs1489546610 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:81656556 (GRCh38)
17:79623586 (GRCh37)
Canonical SPDI:: NC_000017.11:81656555:A:G
Gene:: PDE6G (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000005/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.81656556A>G, NC_000017.10:g.79623586A>G, NG_009834.2:g.11863T>C, NM_002602.3:c.-123T>C, NR_026872.1:n.22T>C

Select item 148935314018.

rs1489353140 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:81655322 (GRCh38)
17:79622352 (GRCh37)
Canonical SPDI:: NC_000017.11:81655321:G:C
Gene:: PDE6G (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.81655322G>C, NC_000017.10:g.79622352G>C, NG_009834.2:g.13097C>G

Select item 148898187619.

rs1488981876 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:81663080 (GRCh38)
17:79630110 (GRCh37)
Canonical SPDI:: NC_000017.11:81663079:A:G
Gene:: PDE6G (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.81663080A>G, NC_000017.10:g.79630110A>G, NG_009834.2:g.5339T>C, NM_001365724.1:c.-81T>C, NR_158591.1:n.48T>C

Select item 148882232320.

rs1488822323 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 17:81652971 (GRCh38)
17:79620001 (GRCh37)
Canonical SPDI:: NC_000017.11:81652970:CCCCC:CCCC
Gene:: PDE6G (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CCCC=0./0 (ALFA)
HGVS:: NC_000017.11:g.81652975del, NC_000017.10:g.79620005del, NG_009834.2:g.15448del

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