SNP Links for Gene (Select 79541) - SNP

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Select item 14903596251.

rs1490359625 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 6:131699509 (GRCh38)
6:132020649 (GRCh37)
Canonical SPDI:: NC_000006.12:131699508:C:A,NC_000006.12:131699508:C:G
Gene:: ENPP3 (Varview), OR2A4 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.131699509C>A, NC_000006.12:g.131699509C>G, NC_000006.11:g.132020649C>A, NC_000006.11:g.132020649C>G, NG_033982.1:g.67208C>A, NG_033982.1:g.67208C>G

Select item 14902677462.

rs1490267746 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 6:131701466 (GRCh38)
6:132022606 (GRCh37)
Canonical SPDI:: NC_000006.12:131701465:C:A,NC_000006.12:131701465:C:G
Gene:: ENPP3 (Varview), OR2A4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000007/1 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.131701466C>A, NC_000006.12:g.131701466C>G, NC_000006.11:g.132022606C>A, NC_000006.11:g.132022606C>G, NG_033982.1:g.69165C>A, NG_033982.1:g.69165C>G

Select item 14901963183.

rs1490196318 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:131700043 (GRCh38)
6:132021183 (GRCh37)
Canonical SPDI:: NC_000006.12:131700042:C:T
Gene:: ENPP3 (Varview), OR2A4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.131700043C>T, NC_000006.11:g.132021183C>T, NG_033982.1:g.67742C>T, NM_030908.2:c.*426G>A

Select item 14884417014.

rs1488441701 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 6:131701763 (GRCh38)
6:132022903 (GRCh37)
Canonical SPDI:: NC_000006.12:131701762:T:C,NC_000006.12:131701762:T:G
Gene:: ENPP3 (Varview), OR2A4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.131701763T>C, NC_000006.12:g.131701763T>G, NC_000006.11:g.132022903T>C, NC_000006.11:g.132022903T>G, NG_033982.1:g.69462T>C, NG_033982.1:g.69462T>G

Select item 14881129345.

rs1488112934 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:131700435 (GRCh38)
6:132021575 (GRCh37)
Canonical SPDI:: NC_000006.12:131700434:T:C
Gene:: ENPP3 (Varview), OR2A4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.131700435T>C, NC_000006.11:g.132021575T>C, NG_033982.1:g.68134T>C, NM_030908.2:c.*34A>G

Select item 14881074346.

rs1488107434 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:131702559 (GRCh38)
6:132023699 (GRCh37)
Canonical SPDI:: NC_000006.12:131702558:A:G
Gene:: ENPP3 (Varview), OR2A4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.131702559A>G, NC_000006.11:g.132023699A>G, NG_033982.1:g.70258A>G

Select item 14878689187.

rs1487868918 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 6:131701907 (GRCh38)
6:132023048 (GRCh37)
Canonical SPDI:: NC_000006.12:131701907::G
Gene:: ENPP3 (Varview), OR2A4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000169/2 (ALFA)
G=0.000156/1 (1000Genomes)
G=0.000179/25 (GnomAD)
HGVS:: NC_000006.12:g.131701907_131701908insG, NC_000006.11:g.132023047_132023048insG, NG_033982.1:g.69606_69607insG

Select item 14877970578.

rs1487797057 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:131699350 (GRCh38)
6:132020490 (GRCh37)
Canonical SPDI:: NC_000006.12:131699349:C:A
Gene:: ENPP3 (Varview), OR2A4 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/1 (GnomAD)
A=0.001168/33 (TOMMO)
HGVS:: NC_000006.12:g.131699350C>A, NC_000006.11:g.132020490C>A, NG_033982.1:g.67049C>A

Select item 14873191799.

rs1487319179 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:131699153 (GRCh38)
6:132020293 (GRCh37)
Canonical SPDI:: NC_000006.12:131699152:G:A
Gene:: ENPP3 (Varview), OR2A4 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00067/11 (TOMMO)
HGVS:: NC_000006.12:g.131699153G>A, NC_000006.11:g.132020293G>A, NG_033982.1:g.66852G>A

Select item 148718867410.

rs1487188674 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:131700797 (GRCh38)
6:132021937 (GRCh37)
Canonical SPDI:: NC_000006.12:131700796:G:A
Gene:: ENPP3 (Varview), OR2A4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000005/1 (GnomAD_exomes)
A=0.000387/1 (KOREAN)
HGVS:: NC_000006.12:g.131700797G>A, NC_000006.11:g.132021937G>A, NG_033982.1:g.68496G>A, NM_030908.2:c.605C>T, NM_030908.1:c.605C>T, NP_112170.1:p.Ala202Val

Select item 148680157211.

rs1486801572 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:131703052 (GRCh38)
6:132024192 (GRCh37)
Canonical SPDI:: NC_000006.12:131703051:A:G
Gene:: ENPP3 (Varview), OR2A4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (KOREAN)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.131703052A>G, NC_000006.11:g.132024192A>G, NG_033982.1:g.70751A>G

Select item 148623724812.

rs1486237248 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:131700421 (GRCh38)
6:132021561 (GRCh37)
Canonical SPDI:: NC_000006.12:131700420:A:G
Gene:: ENPP3 (Varview), OR2A4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.01062/126 (ALFA)
G=0.00004/3 (GnomAD_exomes)
G=0.00008/3 (GnomAD)
G=0.0002/3 (TOMMO)
HGVS:: NC_000006.12:g.131700421A>G, NC_000006.11:g.132021561A>G, NG_033982.1:g.68120A>G, NM_030908.2:c.*48T>C

Select item 148429174513.

rs1484291745 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:131701977 (GRCh38)
6:132023117 (GRCh37)
Canonical SPDI:: NC_000006.12:131701976:T:A
Gene:: ENPP3 (Varview), OR2A4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.131701977T>A, NC_000006.11:g.132023117T>A, NG_033982.1:g.69676T>A

Select item 148390219414.

rs1483902194 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:131701739 (GRCh38)
6:132022879 (GRCh37)
Canonical SPDI:: NC_000006.12:131701738:C:T
Gene:: ENPP3 (Varview), OR2A4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000169/2 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.131701739C>T, NC_000006.11:g.132022879C>T, NG_033982.1:g.69438C>T

Select item 148379810615.

rs1483798106 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:131702340 (GRCh38)
6:132023480 (GRCh37)
Canonical SPDI:: NC_000006.12:131702339:C:A
Gene:: ENPP3 (Varview), OR2A4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.007756/92 (ALFA)
A=0.006155/843 (GnomAD)
A=0.007495/48 (1000Genomes)
C=0.5/3 (SGDP_PRJ)
HGVS:: NC_000006.12:g.131702340C>A, NC_000006.11:g.132023480C>A, NG_033982.1:g.70039C>A

Select item 148372509616.

rs1483725096 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:131700966 (GRCh38)
6:132022106 (GRCh37)
Canonical SPDI:: NC_000006.12:131700965:T:G
Gene:: ENPP3 (Varview), OR2A4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.131700966T>G, NC_000006.11:g.132022106T>G, NG_033982.1:g.68665T>G, NM_030908.2:c.436A>C, NM_030908.1:c.436A>C, NP_112170.1:p.Thr146Pro

Select item 148354402017.

rs1483544020 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:131702025 (GRCh38)
6:132023165 (GRCh37)
Canonical SPDI:: NC_000006.12:131702024:T:A
Gene:: ENPP3 (Varview), OR2A4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000381/6 (ALFA)
A=0.000106/3 (TOMMO)
A=0.000234/32 (GnomAD)
HGVS:: NC_000006.12:g.131702025T>A, NC_000006.11:g.132023165T>A, NG_033982.1:g.69724T>A

Select item 148233406918.

rs1482334069 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:131702892 (GRCh38)
6:132024032 (GRCh37)
Canonical SPDI:: NC_000006.12:131702891:G:A
Gene:: ENPP3 (Varview), OR2A4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.131702892G>A, NC_000006.11:g.132024032G>A, NG_033982.1:g.70591G>A

Select item 148188948419.

rs1481889484 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 6:131702496 (GRCh38)
6:132023636 (GRCh37)
Canonical SPDI:: NC_000006.12:131702492:TGTGT:TGT
Gene:: ENPP3 (Varview), OR2A4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TGT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.131702494GT[1], NC_000006.11:g.132023634GT[1], NG_033982.1:g.70193GT[1]

Select item 148179810520.

rs1481798105 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:131701743 (GRCh38)
6:132022883 (GRCh37)
Canonical SPDI:: NC_000006.12:131701742:G:A,NC_000006.12:131701742:G:T
Gene:: ENPP3 (Varview), OR2A4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.131701743G>A, NC_000006.12:g.131701743G>T, NC_000006.11:g.132022883G>A, NC_000006.11:g.132022883G>T, NG_033982.1:g.69442G>A, NG_033982.1:g.69442G>T

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