SNP Links for Gene (Select 347902) - SNP

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Select item 14909533471.

rs1490953347 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:47078292 (GRCh38)
12:47472075 (GRCh37)
Canonical SPDI:: NC_000012.12:47078291:G:A
Gene:: PCED1B (Varview), AMIGO2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000012.12:g.47078292G>A, NC_000012.11:g.47472075G>A, NM_181847.4:c.711C>T, XM_047428785.1:c.711C>T, NM_001370299.1:c.711C>T, NM_001143668.1:c.711C>T

Select item 14908437982.

rs1490843798 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:47082735 (GRCh38)
12:47476518 (GRCh37)
Canonical SPDI:: NC_000012.12:47082734:A:G
Gene:: PCED1B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.47082735A>G, NC_000012.11:g.47476518A>G

Select item 14906274913.

rs1490627491 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:47081614 (GRCh38)
12:47475397 (GRCh37)
Canonical SPDI:: NC_000012.12:47081613:A:G
Gene:: PCED1B (Varview), AMIGO2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.47081614A>G, NC_000012.11:g.47475397A>G

Select item 14902772464.

rs1490277246 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:47082621 (GRCh38)
12:47476404 (GRCh37)
Canonical SPDI:: NC_000012.12:47082620:C:T
Gene:: PCED1B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.47082621C>T, NC_000012.11:g.47476404C>T

Select item 14895875735.

rs1489587573 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 12:47079951 (GRCh38)
12:47473734 (GRCh37)
Canonical SPDI:: NC_000012.12:47079950:G:A,NC_000012.12:47079950:G:C,NC_000012.12:47079950:G:T
Gene:: PCED1B (Varview), AMIGO2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.47079951G>A, NC_000012.12:g.47079951G>C, NC_000012.12:g.47079951G>T, NC_000012.11:g.47473734G>A, NC_000012.11:g.47473734G>C, NC_000012.11:g.47473734G>T, NM_181847.4:c.-553C>T, NM_181847.4:c.-553C>G, NM_181847.4:c.-553C>A, XM_047428785.1:c.-868C>T, XM_047428785.1:c.-868C>G, XM_047428785.1:c.-868C>A, NM_001370299.1:c.-660C>T, NM_001370299.1:c.-660C>G, NM_001370299.1:c.-660C>A, NM_001143668.1:c.-655C>T, NM_001143668.1:c.-655C>G, NM_001143668.1:c.-655C>A

Select item 14895666506.

rs1489566650 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:47076183 (GRCh38)
12:47469966 (GRCh37)
Canonical SPDI:: NC_000012.12:47076182:C:A
Gene:: AMIGO2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.47076183C>A, NC_000012.11:g.47469966C>A, NM_181847.4:c.*1251G>T, XM_047428785.1:c.*1251G>T

Select item 14895386337.

rs1489538633 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 12:47081913 (GRCh38)
12:47475696 (GRCh37)
Canonical SPDI:: NC_000012.12:47081912:A:C,NC_000012.12:47081912:A:G
Gene:: PCED1B (Varview), AMIGO2 (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=0.000007/1 (GnomAD)
C=0.000142/2 (TOMMO)
HGVS:: NC_000012.12:g.47081913A>C, NC_000012.12:g.47081913A>G, NC_000012.11:g.47475696A>C, NC_000012.11:g.47475696A>G

Select item 14876148918.

rs1487614891 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:47079772 (GRCh38)
12:47473555 (GRCh37)
Canonical SPDI:: NC_000012.12:47079771:C:T
Gene:: PCED1B (Varview), AMIGO2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000036/5 (GnomAD)
HGVS:: NC_000012.12:g.47079772C>T, NC_000012.11:g.47473555C>T, NM_181847.4:c.-374G>A, XM_047428785.1:c.-689G>A, NM_001370299.1:c.-481G>A, NM_001143668.1:c.-476G>A

Select item 14872601109.

rs1487260110 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:47082210 (GRCh38)
12:47475993 (GRCh37)
Canonical SPDI:: NC_000012.12:47082209:T:C
Gene:: PCED1B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.47082210T>C, NC_000012.11:g.47475993T>C

Select item 148720650810.

rs1487206508 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:47081192 (GRCh38)
12:47474975 (GRCh37)
Canonical SPDI:: NC_000012.12:47081191:C:A
Gene:: PCED1B (Varview), AMIGO2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.47081192C>A, NC_000012.11:g.47474975C>A

Select item 148641469711.

rs1486414697 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:47075448 (GRCh38)
12:47469231 (GRCh37)
Canonical SPDI:: NC_000012.12:47075447:T:C
Gene:: AMIGO2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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.47075448T>C, NC_000012.11:g.47469231T>C

Select item 148598329212.

rs1485983292 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:47076670 (GRCh38)
12:47470453 (GRCh37)
Canonical SPDI:: NC_000012.12:47076669:A:G
Gene:: AMIGO2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.47076670A>G, NC_000012.11:g.47470453A>G, NM_181847.4:c.*764T>C, XM_047428785.1:c.*764T>C, NM_001370299.1:c.*764T>C, NM_001143668.1:c.*764T>C

Select item 148565374713.

rs1485653747 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:47075479 (GRCh38)
12:47469262 (GRCh37)
Canonical SPDI:: NC_000012.12:47075478:G:A
Gene:: AMIGO2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.47075479G>A, NC_000012.11:g.47469262G>A

Select item 148516364314.

rs1485163643 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:47080105 (GRCh38)
12:47473888 (GRCh37)
Canonical SPDI:: NC_000012.12:47080104:G:A,NC_000012.12:47080104:G:T
Gene:: PCED1B (Varview), AMIGO2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.47080105G>A, NC_000012.12:g.47080105G>T, NC_000012.11:g.47473888G>A, NC_000012.11:g.47473888G>T

Select item 148510604515.

rs1485106045 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:47079789 (GRCh38)
12:47473572 (GRCh37)
Canonical SPDI:: NC_000012.12:47079788:G:A
Gene:: PCED1B (Varview), AMIGO2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.47079789G>A, NC_000012.11:g.47473572G>A, NM_181847.4:c.-391C>T, XM_047428785.1:c.-706C>T, NM_001370299.1:c.-498C>T, NM_001143668.1:c.-493C>T

Select item 148484411416.

rs1484844114 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:47077792 (GRCh38)
12:47471575 (GRCh37)
Canonical SPDI:: NC_000012.12:47077791:G:A,NC_000012.12:47077791:G:C
Gene:: PCED1B (Varview), AMIGO2 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.47077792G>A, NC_000012.12:g.47077792G>C, NC_000012.11:g.47471575G>A, NC_000012.11:g.47471575G>C, NM_181847.4:c.1211C>T, NM_181847.4:c.1211C>G, XM_047428785.1:c.1211C>T, XM_047428785.1:c.1211C>G, NM_001370299.1:c.1211C>T, NM_001370299.1:c.1211C>G, NM_001143668.1:c.1211C>T, NM_001143668.1:c.1211C>G, NP_862830.1:p.Ala404Val, NP_862830.1:p.Ala404Gly, XP_047284741.1:p.Ala404Val, XP_047284741.1:p.Ala404Gly, NP_001357228.1:p.Ala404Val, NP_001357228.1:p.Ala404Gly, NP_001137140.1:p.Ala404Val, NP_001137140.1:p.Ala404Gly

Select item 148483037517.

rs1484830375 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:47080186 (GRCh38)
12:47473969 (GRCh37)
Canonical SPDI:: NC_000012.12:47080185:T:C
Gene:: PCED1B (Varview), AMIGO2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.47080186T>C, NC_000012.11:g.47473969T>C

Select item 148478204718.

rs1484782047 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:47079431 (GRCh38)
12:47473214 (GRCh37)
Canonical SPDI:: NC_000012.12:47079430:T:C
Gene:: PCED1B (Varview), AMIGO2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.47079431T>C, NC_000012.11:g.47473214T>C, XM_047428785.1:c.-348A>G

Select item 148375415719.

rs1483754157 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:47076648 (GRCh38)
12:47470431 (GRCh37)
Canonical SPDI:: NC_000012.12:47076647:A:G
Gene:: AMIGO2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000012.12:g.47076648A>G, NC_000012.11:g.47470431A>G, NM_181847.4:c.*786T>C, XM_047428785.1:c.*786T>C, NM_001370299.1:c.*786T>C, NM_001143668.1:c.*786T>C

Select item 148348021520.

rs1483480215 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:47077097 (GRCh38)
12:47470880 (GRCh37)
Canonical SPDI:: NC_000012.12:47077096:C:T
Gene:: AMIGO2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.47077097C>T, NC_000012.11:g.47470880C>T, NM_181847.4:c.*337G>A, XM_047428785.1:c.*337G>A, NM_001370299.1:c.*337G>A, NM_001143668.1:c.*337G>A

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