SNP Links for Gene (Select 5827) - SNP

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Select item 14915646781.

rs1491564678 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 12:132699526 (GRCh38)
12:133276112 (GRCh37)
Canonical SPDI:: NC_000012.12:132699525:CT:
Gene:: PXMP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000169/2 (ALFA)
-=0.000034/4 (GnomAD)
HGVS:: NC_000012.12:g.132699526_132699527del, NC_000012.11:g.133276112_133276113del

Select item 14915439992.

rs1491543999 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 12:132699548 (GRCh38)
12:133276134 (GRCh37)
Canonical SPDI:: NC_000012.12:132699547:TG:
Gene:: PXMP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00472/56 (ALFA)
-=0.00149/25 (TOMMO)
HGVS:: NC_000012.12:g.132699548_132699549del, NC_000012.11:g.133276134_133276135del

Select item 14915323713.

rs1491532371 has merged into rs1333130107 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT [Show Flanks]
Chromosome:: 12:132705279 (GRCh38)
12:133281865 (GRCh37)
Canonical SPDI:: NC_000012.12:132705274:ATATATAT:ATAT,NC_000012.12:132705274:ATATATAT:ATATAT,NC_000012.12:132705274:ATATATAT:ATATATATAT
Gene:: PXMP2 (Varview), LOC124903063 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATAT=0./0 (ALFA)
-=0.1572/94 (NorthernSweden)
-=0.1728/666 (ALSPAC)
-=0.1877/696 (TWINSUK)
-=0.1904/190 (GoNL)
-=0.225/9 (GENOME_DK)
HGVS:: NC_000012.12:g.132705275AT[2], NC_000012.12:g.132705275AT[3], NC_000012.12:g.132705275AT[5], NC_000012.11:g.133281861AT[2], NC_000012.11:g.133281861AT[3], NC_000012.11:g.133281861AT[5]

Select item 14914156134.

rs1491415613 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TACA,TACACA,TACACACA,TACACACACA,TACACACACACA,TACACACACACACA [Show Flanks]
Chromosome:: 12:132705246 (GRCh38)
12:133281833 (GRCh37)
Canonical SPDI:: NC_000012.12:132705246:A:ATACA,NC_000012.12:132705246:A:ATACACA,NC_000012.12:132705246:A:ATACACACA,NC_000012.12:132705246:A:ATACACACACA,NC_000012.12:132705246:A:ATACACACACACA,NC_000012.12:132705246:A:ATACACACACACACA
Gene:: PXMP2 (Varview), LOC124903063 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATACACA=0./0 (ALFA)
HGVS:: NC_000012.12:g.132705247_132705248insTACA, NC_000012.12:g.132705247_132705248insTACACA, NC_000012.12:g.132705247_132705248insTACACACA, NC_000012.12:g.132705247_132705248insTACACACACA, NC_000012.12:g.132705247_132705248insTACACACACACA, NC_000012.12:g.132705247_132705248insTACACACACACACA, NC_000012.11:g.133281833_133281834insTACA, NC_000012.11:g.133281833_133281834insTACACA, NC_000012.11:g.133281833_133281834insTACACACA, NC_000012.11:g.133281833_133281834insTACACACACA, NC_000012.11:g.133281833_133281834insTACACACACACA, NC_000012.11:g.133281833_133281834insTACACACACACACA

Select item 14913219585.

rs1491321958 has merged into rs67730658 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:132699535 (GRCh38)
12:133276121 (GRCh37)
Canonical SPDI:: NC_000012.12:132699526:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000012.12:132699526:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000012.12:132699526:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:132699526:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:132699526:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:132699526:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:132699526:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:132699526:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:132699526:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:132699526:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:132699526:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:132699526:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:132699526:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:132699526:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:132699526:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:132699526:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:132699526:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:132699526:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:132699526:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:132699526:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:132699526:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:132699526:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PXMP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.132699535_132699548del, NC_000012.12:g.132699536_132699548del, NC_000012.12:g.132699540_132699548del, NC_000012.12:g.132699541_132699548del, NC_000012.12:g.132699542_132699548del, NC_000012.12:g.132699543_132699548del, NC_000012.12:g.132699544_132699548del, NC_000012.12:g.132699545_132699548del, NC_000012.12:g.132699546_132699548del, NC_000012.12:g.132699547_132699548del, NC_000012.12:g.132699548del, NC_000012.12:g.132699548dup, NC_000012.12:g.132699547_132699548dup, NC_000012.12:g.132699546_132699548dup, NC_000012.12:g.132699545_132699548dup, NC_000012.12:g.132699544_132699548dup, NC_000012.12:g.132699543_132699548dup, NC_000012.12:g.132699542_132699548dup, NC_000012.12:g.132699541_132699548dup, NC_000012.12:g.132699540_132699548dup, NC_000012.12:g.132699539_132699548dup, NC_000012.12:g.132699548_132699549insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.133276121_133276134del, NC_000012.11:g.133276122_133276134del, NC_000012.11:g.133276126_133276134del, NC_000012.11:g.133276127_133276134del, NC_000012.11:g.133276128_133276134del, NC_000012.11:g.133276129_133276134del, NC_000012.11:g.133276130_133276134del, NC_000012.11:g.133276131_133276134del, NC_000012.11:g.133276132_133276134del, NC_000012.11:g.133276133_133276134del, NC_000012.11:g.133276134del, NC_000012.11:g.133276134dup, NC_000012.11:g.133276133_133276134dup, NC_000012.11:g.133276132_133276134dup, NC_000012.11:g.133276131_133276134dup, NC_000012.11:g.133276130_133276134dup, NC_000012.11:g.133276129_133276134dup, NC_000012.11:g.133276128_133276134dup, NC_000012.11:g.133276127_133276134dup, NC_000012.11:g.133276126_133276134dup, NC_000012.11:g.133276125_133276134dup, NC_000012.11:g.133276134_133276135insTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14912631926.

rs1491263192 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 12:132691051 (GRCh38)
12:133267637 (GRCh37)
Canonical SPDI:: NC_000012.12:132691050:AT:
Gene:: PXMP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000017/2 (GnomAD)
HGVS:: NC_000012.12:g.132691051_132691052del, NC_000012.11:g.133267637_133267638del, NG_033840.1:g.1473_1474del

Select item 14912418217.

rs1491241821 has merged into rs35869908 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:132691062 (GRCh38)
12:133267648 (GRCh37)
Canonical SPDI:: NC_000012.12:132691051:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:132691051:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:132691051:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:132691051:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:132691051:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:132691051:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:132691051:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:132691051:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:132691051:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:132691051:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:132691051:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PXMP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.1819/701 (ALSPAC)
-=0.4445/2226 (1000Genomes)
HGVS:: NC_000012.12:g.132691062_132691069del, NC_000012.12:g.132691064_132691069del, NC_000012.12:g.132691066_132691069del, NC_000012.12:g.132691067_132691069del, NC_000012.12:g.132691068_132691069del, NC_000012.12:g.132691069del, NC_000012.12:g.132691069dup, NC_000012.12:g.132691068_132691069dup, NC_000012.12:g.132691067_132691069dup, NC_000012.12:g.132691066_132691069dup, NC_000012.12:g.132691062_132691069dup, NC_000012.11:g.133267648_133267655del, NC_000012.11:g.133267650_133267655del, NC_000012.11:g.133267652_133267655del, NC_000012.11:g.133267653_133267655del, NC_000012.11:g.133267654_133267655del, NC_000012.11:g.133267655del, NC_000012.11:g.133267655dup, NC_000012.11:g.133267654_133267655dup, NC_000012.11:g.133267653_133267655dup, NC_000012.11:g.133267652_133267655dup, NC_000012.11:g.133267648_133267655dup, NG_033840.1:g.1466_1473del, NG_033840.1:g.1468_1473del, NG_033840.1:g.1470_1473del, NG_033840.1:g.1471_1473del, NG_033840.1:g.1472_1473del, NG_033840.1:g.1473del, NG_033840.1:g.1473dup, NG_033840.1:g.1472_1473dup, NG_033840.1:g.1471_1473dup, NG_033840.1:g.1470_1473dup, NG_033840.1:g.1466_1473dup

Select item 14911547408.

rs1491154740 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 12:132701453 (GRCh38)
12:133278039 (GRCh37)
Canonical SPDI:: NC_000012.12:132701451:CTC:C
Gene:: PXMP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.132701453_132701454del, NC_000012.11:g.133278039_133278040del

Select item 14910041779.

rs1491004177 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:132704978 (GRCh38)
12:133281564 (GRCh37)
Canonical SPDI:: NC_000012.12:132704977:T:C
Gene:: PXMP2 (Varview), LOC124903063 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.132704978T>C, NC_000012.11:g.133281564T>C, NM_018663.3:c.*291T>C, NM_018663.2:c.*291T>C, NM_018663.1:c.*291T>C, XR_007063551.1:n.340A>G

Select item 149098301510.

rs1490983015 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:132686204 (GRCh38)
12:133262790 (GRCh37)
Canonical SPDI:: NC_000012.12:132686203:A:G
Gene:: POLE (Varview), PXMP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,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_000012.12:g.132686204A>G, NC_000012.11:g.133262790A>G, NG_033840.1:g.6321T>C

Select item 149085213411.

rs1490852134 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAGT>- [Show Flanks]
Chromosome:: 12:132692888 (GRCh38)
12:133269474 (GRCh37)
Canonical SPDI:: NC_000012.12:132692880:AGTTAGTTAGT:AGTTAGT
Gene:: PXMP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGTTAGT=0./0 (ALFA)
HGVS:: NC_000012.12:g.132692884TAGT[1], NC_000012.11:g.133269470TAGT[1]

Select item 149076328312.

rs1490763283 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:132687844 (GRCh38)
12:133264430 (GRCh37)
Canonical SPDI:: NC_000012.12:132687843:G:A
Gene:: POLE (Varview), PXMP2 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_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_000012.12:g.132687844G>A, NC_000012.11:g.133264430G>A, NG_033840.1:g.4681C>T

Select item 149064133413.

rs1490641334 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:132687056 (GRCh38)
12:133263642 (GRCh37)
Canonical SPDI:: NC_000012.12:132687055:C:A
Gene:: POLE (Varview), PXMP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_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_000012.12:g.132687056C>A, NC_000012.11:g.133263642C>A, NG_033840.1:g.5469G>T

Select item 149013750414.

rs1490137504 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:132687756 (GRCh38)
12:133264342 (GRCh37)
Canonical SPDI:: NC_000012.12:132687755:T:C
Gene:: POLE (Varview), PXMP2 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
HGVS:: NC_000012.12:g.132687756T>C, NC_000012.11:g.133264342T>C, NG_033840.1:g.4769A>G, NM_018663.3:c.86T>C, NM_018663.2:c.86T>C, NM_018663.1:c.86T>C, NP_061133.1:p.Leu29Pro

Select item 148992973515.

rs1489929735 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:132699014 (GRCh38)
12:133275600 (GRCh37)
Canonical SPDI:: NC_000012.12:132699013:G:A
Gene:: PXMP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.132699014G>A, NC_000012.11:g.133275600G>A

Select item 148985729516.

rs1489857295 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:132693775 (GRCh38)
12:133270361 (GRCh37)
Canonical SPDI:: NC_000012.12:132693774:G:A,NC_000012.12:132693774:G:T
Gene:: PXMP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00836/5 (NorthernSweden)
T=0.01747/51 (KOREAN)
HGVS:: NC_000012.12:g.132693775G>A, NC_000012.12:g.132693775G>T, NC_000012.11:g.133270361G>A, NC_000012.11:g.133270361G>T

Select item 148968929517.

rs1489689295 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:132694054 (GRCh38)
12:133270640 (GRCh37)
Canonical SPDI:: NC_000012.12:132694053:A:G
Gene:: PXMP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000024/2 (GnomAD)
HGVS:: NC_000012.12:g.132694054A>G, NC_000012.11:g.133270640A>G

Select item 148949257918.

rs1489492579 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:132695897 (GRCh38)
12:133272483 (GRCh37)
Canonical SPDI:: NC_000012.12:132695896:G:A
Gene:: PXMP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000012.12:g.132695897G>A, NC_000012.11:g.133272483G>A, NM_018663.3:c.250G>A, NM_018663.2:c.250G>A, NM_018663.1:c.250G>A, NP_061133.1:p.Gly84Arg

Select item 148945989919.

rs1489459899 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:132703914 (GRCh38)
12:133280500 (GRCh37)
Canonical SPDI:: NC_000012.12:132703913:G:A
Gene:: PXMP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000108/2 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000026/7 (TOPMED)
A=0.000035/1 (TOMMO)
A=0.000446/2 (Estonian)
HGVS:: NC_000012.12:g.132703914G>A, NC_000012.11:g.133280500G>A

Select item 148940350120.

rs1489403501 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:132694916 (GRCh38)
12:133271502 (GRCh37)
Canonical SPDI:: NC_000012.12:132694915:C:A
Gene:: PXMP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000132/2 (ALFA)
A=0.000048/6 (GnomAD)
A=0.000495/8 (TOMMO)
A=0.00203/13 (1000Genomes)
A=0.008898/26 (KOREAN)
HGVS:: NC_000012.12:g.132694916C>A, NC_000012.11:g.133271502C>A

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