SNP Links for Gene (Select 80324) - SNP

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Select item 14910015541.

rs1491001554 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 12:131929842 (GRCh38)
12:132414387 (GRCh37)
Canonical SPDI:: NC_000012.12:131929841:AG:
Gene:: PUS1 (Varview), LOC107984455 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.02888/484 (TOMMO)
HGVS:: NC_000012.12:g.131929842_131929843del, NC_000012.11:g.132414387_132414388del, NG_013039.1:g.5643_5644del

Select item 14909992082.

rs1490999208 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:131936031 (GRCh38)
12:132420576 (GRCh37)
Canonical SPDI:: NC_000012.12:131936030:T:C,NC_000012.12:131936030:T:G
Gene:: PUS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000198/3 (ALFA)
G=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000531/9 (TOMMO)
C=0.00067/3 (Estonian)
G=0.002183/4 (Korea1K)
HGVS:: NC_000012.12:g.131936031T>C, NC_000012.12:g.131936031T>G, NC_000012.11:g.132420576T>C, NC_000012.11:g.132420576T>G, NG_013039.1:g.11832T>C, NG_013039.1:g.11832T>G

Select item 14909786153.

rs1490978615 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:131931433 (GRCh38)
12:132415978 (GRCh37)
Canonical SPDI:: NC_000012.12:131931432:A:T
Gene:: PUS1 (Varview)
Functional Consequence:: 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_000012.12:g.131931433A>T, NC_000012.11:g.132415978A>T, NG_013039.1:g.7234A>T

Select item 14908940574.

rs1490894057 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:131942935 (GRCh38)
12:132427480 (GRCh37)
Canonical SPDI:: NC_000012.12:131942934:C:T
Gene:: PUS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.131942935C>T, NC_000012.11:g.132427480C>T, NG_013039.1:g.18736C>T

Select item 14905818505.

rs1490581850 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:131937315 (GRCh38)
12:132421860 (GRCh37)
Canonical SPDI:: NC_000012.12:131937314:T:C
Gene:: PUS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_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_000012.12:g.131937315T>C, NC_000012.11:g.132421860T>C, NG_013039.1:g.13116T>C

Select item 14904874286.

rs1490487428 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:131931883 (GRCh38)
12:132416428 (GRCh37)
Canonical SPDI:: NC_000012.12:131931882:G:C
Gene:: PUS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.131931883G>C, NC_000012.11:g.132416428G>C, NG_013039.1:g.7684G>C

Select item 14902896387.

rs1490289638 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:131930180 (GRCh38)
12:132414725 (GRCh37)
Canonical SPDI:: NC_000012.12:131930179:A:G
Gene:: PUS1 (Varview), LOC107984455 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.131930180A>G, NC_000012.11:g.132414725A>G, NG_013039.1:g.5981A>G

Select item 14897280068.

rs1489728006 has merged into rs113924882 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 12:131936873 (GRCh38)
12:132421418 (GRCh37)
Canonical SPDI:: NC_000012.12:131936866:AAAAAAAAAAAAAA:AAAAAA,NC_000012.12:131936866:AAAAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:131936866:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:131936866:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:131936866:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:131936866:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:131936866:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:131936866:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: PUS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.252314/66785 (TOPMED)
-=0.343251/1719 (1000Genomes)
HGVS:: NC_000012.12:g.131936873_131936880del, NC_000012.12:g.131936876_131936880del, NC_000012.12:g.131936877_131936880del, NC_000012.12:g.131936878_131936880del, NC_000012.12:g.131936879_131936880del, NC_000012.12:g.131936880del, NC_000012.12:g.131936880dup, NC_000012.12:g.131936879_131936880dup, NC_000012.11:g.132421418_132421425del, NC_000012.11:g.132421421_132421425del, NC_000012.11:g.132421422_132421425del, NC_000012.11:g.132421423_132421425del, NC_000012.11:g.132421424_132421425del, NC_000012.11:g.132421425del, NC_000012.11:g.132421425dup, NC_000012.11:g.132421424_132421425dup, NG_013039.1:g.12674_12681del, NG_013039.1:g.12677_12681del, NG_013039.1:g.12678_12681del, NG_013039.1:g.12679_12681del, NG_013039.1:g.12680_12681del, NG_013039.1:g.12681del, NG_013039.1:g.12681dup, NG_013039.1:g.12680_12681dup

Select item 14896165719.

rs1489616571 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:131929327 (GRCh38)
12:132413872 (GRCh37)
Canonical SPDI:: NC_000012.12:131929326:G:T
Gene:: PUS1 (Varview), LOC107984455 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.131929327G>T, NC_000012.11:g.132413872G>T, NG_013039.1:g.5128G>T, NM_025215.5:c.-396G>T, NM_025215.6:c.-396G>T, NM_001002020.2:c.-64G>T, NM_001002020.3:c.-64G>T, NM_001002019.2:c.-88G>T, NM_001002019.3:c.-88G>T, XM_011538769.3:c.-396G>T, XM_011538769.2:c.-396G>T, XM_011538769.1:c.-396G>T, XR_001748872.2:n.52G>T, XR_001748872.1:n.60G>T

Select item 148960553010.

rs1489605530 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:131933239 (GRCh38)
12:132417784 (GRCh37)
Canonical SPDI:: NC_000012.12:131933238:C:T
Gene:: PUS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.131933239C>T, NC_000012.11:g.132417784C>T, NG_013039.1:g.9040C>T

Select item 148942769511.

rs1489427695 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:131935822 (GRCh38)
12:132420367 (GRCh37)
Canonical SPDI:: NC_000012.12:131935821:C:T
Gene:: PUS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000012.12:g.131935822C>T, NC_000012.11:g.132420367C>T, NG_013039.1:g.11623C>T

Select item 148930612512.

rs1489306125 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:131938892 (GRCh38)
12:132423437 (GRCh37)
Canonical SPDI:: NC_000012.12:131938891:T:C,NC_000012.12:131938891:T:G
Gene:: PUS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
C=0.000142/2 (TOMMO)
HGVS:: NC_000012.12:g.131938892T>C, NC_000012.12:g.131938892T>G, NC_000012.11:g.132423437T>C, NC_000012.11:g.132423437T>G, NG_013039.1:g.14693T>C, NG_013039.1:g.14693T>G

Select item 148929553013.

rs1489295530 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:131943162 (GRCh38)
12:132427707 (GRCh37)
Canonical SPDI:: NC_000012.12:131943161:C:T
Gene:: PUS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.131943162C>T, NC_000012.11:g.132427707C>T, NG_013039.1:g.18963C>T

Select item 148921120114.

rs1489211201 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:131932692 (GRCh38)
12:132417237 (GRCh37)
Canonical SPDI:: NC_000012.12:131932691:T:C
Gene:: PUS1 (Varview)
Functional Consequence:: 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_000012.12:g.131932692T>C, NC_000012.11:g.132417237T>C, NG_013039.1:g.8493T>C

Select item 148920068215.

rs1489200682 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:131929840 (GRCh38)
12:132414385 (GRCh37)
Canonical SPDI:: NC_000012.12:131929839:C:T
Gene:: PUS1 (Varview), LOC107984455 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.0001/1 (ALFA)
HGVS:: NC_000012.12:g.131929840C>T, NC_000012.11:g.132414385C>T, NG_013039.1:g.5641C>T

Select item 148916054516.

rs1489160545 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 12:131933589 (GRCh38)
12:132418134 (GRCh37)
Canonical SPDI:: NC_000012.12:131933588:A:C,NC_000012.12:131933588:A:T
Gene:: PUS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.131933589A>C, NC_000012.12:g.131933589A>T, NC_000012.11:g.132418134A>C, NC_000012.11:g.132418134A>T, NG_013039.1:g.9390A>C, NG_013039.1:g.9390A>T

Select item 148884164217.

rs1488841642 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:131939152 (GRCh38)
12:132423697 (GRCh37)
Canonical SPDI:: NC_000012.12:131939151:C:G
Gene:: PUS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.131939152C>G, NC_000012.11:g.132423697C>G, NG_013039.1:g.14953C>G

Select item 148861399918.

rs1488613999 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:131938760 (GRCh38)
12:132423305 (GRCh37)
Canonical SPDI:: NC_000012.12:131938759:C:T
Gene:: PUS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000022/3 (GnomAD)
HGVS:: NC_000012.12:g.131938760C>T, NC_000012.11:g.132423305C>T, NG_013039.1:g.14561C>T

Select item 148860351819.

rs1488603518 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:131940180 (GRCh38)
12:132424725 (GRCh37)
Canonical SPDI:: NC_000012.12:131940179:C:T
Gene:: PUS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.131940180C>T, NC_000012.11:g.132424725C>T, NG_013039.1:g.15981C>T

Select item 148856276120.

rs1488562761 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:131938542 (GRCh38)
12:132423087 (GRCh37)
Canonical SPDI:: NC_000012.12:131938541:C:T
Gene:: PUS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.131938542C>T, NC_000012.11:g.132423087C>T, NG_013039.1:g.14343C>T

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