SNP Links for Gene (Select 2907) - SNP

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Select item 14908162621.

rs1490816262 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:143993497 (GRCh38)
8:145067665 (GRCh37)
Canonical SPDI:: NC_000008.11:143993496:A:G
Gene:: GRINA (Varview), PARP10 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000008.11:g.143993497A>G, NC_000008.10:g.145067665A>G, NW_003315923.1:g.332142A>G

Select item 14906777032.

rs1490677703 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:143992596 (GRCh38)
8:145066764 (GRCh37)
Canonical SPDI:: NC_000008.11:143992595:G:A
Gene:: GRINA (Varview), PARP10 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_upstream_transcript_variant,synonymous_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_000008.11:g.143992596G>A, NC_000008.10:g.145066764G>A, NW_003315923.1:g.331241G>A, NM_000837.2:c.954G>A, NM_000837.1:c.954G>A, NM_001009184.2:c.954G>A, NM_001009184.1:c.954G>A

Select item 14901890543.

rs1490189054 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:143992984 (GRCh38)
8:145067152 (GRCh37)
Canonical SPDI:: NC_000008.11:143992983:G:A
Gene:: GRINA (Varview), PARP10 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.143992984G>A, NC_000008.10:g.145067152G>A, NW_003315923.1:g.331629G>A, NM_000837.2:c.*143G>A, NM_000837.1:c.*143G>A, NM_001009184.2:c.*143G>A, NM_001009184.1:c.*143G>A

Select item 14894930404.

rs1489493040 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:143988336 (GRCh38)
8:145062504 (GRCh37)
Canonical SPDI:: NC_000008.11:143988335:G:C
Gene:: GRINA (Varview), PARP10 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000042/11 (TOPMED)
C=0.000047/6 (GnomAD)
C=0.000343/1 (KOREAN)
HGVS:: NC_000008.11:g.143988336G>C, NC_000008.10:g.145062504G>C, NW_003315923.1:g.326981G>C

Select item 14892417295.

rs1489241729 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:143991696 (GRCh38)
8:145065864 (GRCh37)
Canonical SPDI:: NC_000008.11:143991695:C:T
Gene:: GRINA (Varview), PARP10 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.143991696C>T, NC_000008.10:g.145065864C>T, NW_003315923.1:g.330341C>T, NM_000837.2:c.384C>T, NM_000837.1:c.384C>T, NM_001009184.2:c.384C>T, NM_001009184.1:c.384C>T

Select item 14887000286.

rs1488700028 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:143988283 (GRCh38)
8:145062451 (GRCh37)
Canonical SPDI:: NC_000008.11:143988282:G:A
Gene:: GRINA (Varview), PARP10 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.143988283G>A, NC_000008.10:g.145062451G>A, NW_003315923.1:g.326928G>A

Select item 14880614287.

rs1488061428 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:143989151 (GRCh38)
8:145063319 (GRCh37)
Canonical SPDI:: NC_000008.11:143989150:G:C
Gene:: GRINA (Varview), PARP10 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000084/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000008.11:g.143989151G>C, NC_000008.10:g.145063319G>C, NW_003315923.1:g.327796G>C

Select item 14863253298.

rs1486325329 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:143989259 (GRCh38)
8:145063427 (GRCh37)
Canonical SPDI:: NC_000008.11:143989258:T:C
Gene:: GRINA (Varview), PARP10 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_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_000008.11:g.143989259T>C, NC_000008.10:g.145063427T>C, NW_003315923.1:g.327904T>C

Select item 14857674819.

rs1485767481 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:143989712 (GRCh38)
8:145063880 (GRCh37)
Canonical SPDI:: NC_000008.11:143989711:G:A
Gene:: GRINA (Varview), PARP10 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.143989712G>A, NC_000008.10:g.145063880G>A, NW_003315923.1:g.328357G>A

Select item 148567137410.

rs1485671374 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:143990077 (GRCh38)
8:145064245 (GRCh37)
Canonical SPDI:: NC_000008.11:143990076:C:T
Gene:: GRINA (Varview), PARP10 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.143990077C>T, NC_000008.10:g.145064245C>T, NW_003315923.1:g.328722C>T, NM_000837.2:c.-259C>T, NM_000837.1:c.-259C>T, NM_001009184.2:c.-147C>T, NM_001009184.1:c.-147C>T

Select item 148514227011.

rs1485142270 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:143991116 (GRCh38)
8:145065284 (GRCh37)
Canonical SPDI:: NC_000008.11:143991115:A:G
Gene:: GRINA (Varview), PARP10 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
HGVS:: NC_000008.11:g.143991116A>G, NC_000008.10:g.145065284A>G, NG_078771.1:g.256A>G, NW_003315923.1:g.329761A>G

Select item 148511096612.

rs1485110966 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:143990277 (GRCh38)
8:145064445 (GRCh37)
Canonical SPDI:: NC_000008.11:143990276:C:G,NC_000008.11:143990276:C:T
Gene:: GRINA (Varview), PARP10 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.143990277C>G, NC_000008.11:g.143990277C>T, NC_000008.10:g.145064445C>G, NC_000008.10:g.145064445C>T, NW_003315923.1:g.328922C>G, NW_003315923.1:g.328922C>T, NM_000837.2:c.-59C>G, NM_000837.2:c.-59C>T, NM_000837.1:c.-59C>G, NM_000837.1:c.-59C>T

Select item 148490919413.

rs1484909194 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:143993828 (GRCh38)
8:145067996 (GRCh37)
Canonical SPDI:: NC_000008.11:143993827:G:C
Gene:: GRINA (Varview), PARP10 (Varview)
Functional Consequence:: 500B_downstream_variant,genic_upstream_transcript_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.143993828G>C, NC_000008.10:g.145067996G>C, NW_003315923.1:g.332473G>C

Select item 148481478514.

rs1484814785 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:143990753 (GRCh38)
8:145064921 (GRCh37)
Canonical SPDI:: NC_000008.11:143990752:A:G
Gene:: GRINA (Varview), PARP10 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000008.11:g.143990753A>G, NC_000008.10:g.145064921A>G, NW_003315923.1:g.329398A>G

Select item 148478455215.

rs1484784552 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:143990036 (GRCh38)
8:145064204 (GRCh37)
Canonical SPDI:: NC_000008.11:143990035:G:A
Gene:: GRINA (Varview), PARP10 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000032/3 (GnomAD)
HGVS:: NC_000008.11:g.143990036G>A, NC_000008.10:g.145064204G>A, NW_003315923.1:g.328681G>A

Select item 148417269316.

rs1484172693 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:143988180 (GRCh38)
8:145062348 (GRCh37)
Canonical SPDI:: NC_000008.11:143988179:C:A,NC_000008.11:143988179:C:T
Gene:: GRINA (Varview), PARP10 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000035/4 (GnomAD)
T=0.000037/1 (TOMMO)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000008.11:g.143988180C>A, NC_000008.11:g.143988180C>T, NC_000008.10:g.145062348C>A, NC_000008.10:g.145062348C>T, NW_003315923.1:g.326825C>A, NW_003315923.1:g.326825C>T

Select item 148314922117.

rs1483149221 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:143989527 (GRCh38)
8:145063695 (GRCh37)
Canonical SPDI:: NC_000008.11:143989526:T:C
Gene:: GRINA (Varview), PARP10 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000071/1 (TOMMO)
HGVS:: NC_000008.11:g.143989527T>C, NC_000008.10:g.145063695T>C, NW_003315923.1:g.328172T>C

Select item 148188520118.

rs1481885201 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:143991829 (GRCh38)
8:145065997 (GRCh37)
Canonical SPDI:: NC_000008.11:143991828:G:A
Gene:: GRINA (Varview), PARP10 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.143991829G>A, NC_000008.10:g.145065997G>A, NW_003315923.1:g.330474G>A

Select item 148122483719.

rs1481224837 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:143992715 (GRCh38)
8:145066883 (GRCh37)
Canonical SPDI:: NC_000008.11:143992714:G:A,NC_000008.11:143992714:G:C
Gene:: GRINA (Varview), PARP10 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.143992715G>A, NC_000008.11:g.143992715G>C, NC_000008.10:g.145066883G>A, NC_000008.10:g.145066883G>C, NW_003315923.1:g.331360G>A, NW_003315923.1:g.331360G>C, NM_000837.2:c.990G>A, NM_000837.2:c.990G>C, NM_000837.1:c.990G>A, NM_000837.1:c.990G>C, NM_001009184.2:c.990G>A, NM_001009184.2:c.990G>C, NM_001009184.1:c.990G>A, NM_001009184.1:c.990G>C

Select item 148109240320.

rs1481092403 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:143993599 (GRCh38)
8:145067767 (GRCh37)
Canonical SPDI:: NC_000008.11:143993598:C:T
Gene:: GRINA (Varview), PARP10 (Varview)
Functional Consequence:: 500B_downstream_variant,genic_upstream_transcript_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.143993599C>T, NC_000008.10:g.145067767C>T, NW_003315923.1:g.332244C>T