SNP Links for Protein (Select 219521831) - SNP

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:47078442 (GRCh38)
12:47472225 (GRCh37)
Canonical SPDI:: NC_000012.12:47078441:T:C
Gene:: PCED1B (Varview), AMIGO2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_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.47078442T>C, NC_000012.11:g.47472225T>C, NM_181847.4:c.561A>G, XM_047428785.1:c.561A>G, NM_001370299.1:c.561A>G, NM_001143668.1:c.561A>G

Select item 14707028576.

rs1470702857 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 12:47078991 (GRCh38)
12:47472774 (GRCh37)
Canonical SPDI:: NC_000012.12:47078990:A:C,NC_000012.12:47078990:A:G
Gene:: PCED1B (Varview), AMIGO2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000087/2 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000012.12:g.47078991A>C, NC_000012.12:g.47078991A>G, NC_000012.11:g.47472774A>C, NC_000012.11:g.47472774A>G, NM_181847.4:c.12T>G, NM_181847.4:c.12T>C, XM_047428785.1:c.12T>G, XM_047428785.1:c.12T>C, NM_001370299.1:c.12T>G, NM_001370299.1:c.12T>C, NM_001143668.1:c.12T>G, NM_001143668.1:c.12T>C

Select item 14701629187.

rs1470162918 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:47078713 (GRCh38)
12:47472496 (GRCh37)
Canonical SPDI:: NC_000012.12:47078712:G:A
Gene:: PCED1B (Varview), AMIGO2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.47078713G>A, NC_000012.11:g.47472496G>A, NM_181847.4:c.290C>T, XM_047428785.1:c.290C>T, NM_001370299.1:c.290C>T, NM_001143668.1:c.290C>T, NP_862830.1:p.Thr97Ile, XP_047284741.1:p.Thr97Ile, NP_001357228.1:p.Thr97Ile, NP_001137140.1:p.Thr97Ile

Select item 14687013608.

rs1468701360 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 12:47077995 (GRCh38)
12:47471778 (GRCh37)
Canonical SPDI:: NC_000012.12:47077994:C:A,NC_000012.12:47077994:C:G
Gene:: PCED1B (Varview), AMIGO2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000012.12:g.47077995C>A, NC_000012.12:g.47077995C>G, NC_000012.11:g.47471778C>A, NC_000012.11:g.47471778C>G, NM_181847.4:c.1008G>T, NM_181847.4:c.1008G>C, XM_047428785.1:c.1008G>T, XM_047428785.1:c.1008G>C, NM_001370299.1:c.1008G>T, NM_001370299.1:c.1008G>C, NM_001143668.1:c.1008G>T, NM_001143668.1:c.1008G>C, NP_862830.1:p.Glu336Asp, NP_862830.1:p.Glu336Asp, XP_047284741.1:p.Glu336Asp, XP_047284741.1:p.Glu336Asp, NP_001357228.1:p.Glu336Asp, NP_001357228.1:p.Glu336Asp, NP_001137140.1:p.Glu336Asp, NP_001137140.1:p.Glu336Asp

Select item 14679122989.

rs1467912298 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:47077441 (GRCh38)
12:47471224 (GRCh37)
Canonical SPDI:: NC_000012.12:47077440:G:A
Gene:: AMIGO2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.47077441G>A, NC_000012.11:g.47471224G>A, NM_181847.4:c.1562C>T, XM_047428785.1:c.1562C>T, NM_001370299.1:c.1562C>T, NM_001143668.1:c.1562C>T, NP_862830.1:p.Ser521Phe, XP_047284741.1:p.Ser521Phe, NP_001357228.1:p.Ser521Phe, NP_001137140.1:p.Ser521Phe

Select item 146700246010.

rs1467002460 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:47077558 (GRCh38)
12:47471341 (GRCh37)
Canonical SPDI:: NC_000012.12:47077557:T:C
Gene:: AMIGO2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.47077558T>C, NC_000012.11:g.47471341T>C, NM_181847.4:c.1445A>G, XM_047428785.1:c.1445A>G, NM_001370299.1:c.1445A>G, NM_001143668.1:c.1445A>G, NP_862830.1:p.Lys482Arg, XP_047284741.1:p.Lys482Arg, NP_001357228.1:p.Lys482Arg, NP_001137140.1:p.Lys482Arg

Select item 146023077411.

rs1460230774 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:47077659 (GRCh38)
12:47471442 (GRCh37)
Canonical SPDI:: NC_000012.12:47077658:G:A
Gene:: PCED1B (Varview), AMIGO2 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.47077659G>A, NC_000012.11:g.47471442G>A, NM_181847.4:c.1344C>T, XM_047428785.1:c.1344C>T, NM_001370299.1:c.1344C>T, NM_001143668.1:c.1344C>T

Select item 145894824912.

rs1458948249 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:47077829 (GRCh38)
12:47471612 (GRCh37)
Canonical SPDI:: NC_000012.12:47077828:C:T
Gene:: PCED1B (Varview), AMIGO2 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.47077829C>T, NC_000012.11:g.47471612C>T, NM_181847.4:c.1174G>A, XM_047428785.1:c.1174G>A, NM_001370299.1:c.1174G>A, NM_001143668.1:c.1174G>A, NP_862830.1:p.Ala392Thr, XP_047284741.1:p.Ala392Thr, NP_001357228.1:p.Ala392Thr, NP_001137140.1:p.Ala392Thr

Select item 145676276413.

rs1456762764 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:47078654 (GRCh38)
12:47472437 (GRCh37)
Canonical SPDI:: NC_000012.12:47078653:G:C
Gene:: PCED1B (Varview), AMIGO2 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.47078654G>C, NC_000012.11:g.47472437G>C, NM_181847.4:c.349C>G, XM_047428785.1:c.349C>G, NM_001370299.1:c.349C>G, NM_001143668.1:c.349C>G, NP_862830.1:p.Pro117Ala, XP_047284741.1:p.Pro117Ala, NP_001357228.1:p.Pro117Ala, NP_001137140.1:p.Pro117Ala

Select item 145653701314.

rs1456537013 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:47078976 (GRCh38)
12:47472759 (GRCh37)
Canonical SPDI:: NC_000012.12:47078975:G:A
Gene:: PCED1B (Varview), AMIGO2 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000029/4 (GnomAD)
HGVS:: NC_000012.12:g.47078976G>A, NC_000012.11:g.47472759G>A, NM_181847.4:c.27C>T, XM_047428785.1:c.27C>T, NM_001370299.1:c.27C>T, NM_001143668.1:c.27C>T

Select item 145408970815.

rs1454089708 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:47078956 (GRCh38)
12:47472739 (GRCh37)
Canonical SPDI:: NC_000012.12:47078955:A:G
Gene:: PCED1B (Varview), AMIGO2 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.47078956A>G, NC_000012.11:g.47472739A>G, NM_181847.4:c.47T>C, XM_047428785.1:c.47T>C, NM_001370299.1:c.47T>C, NM_001143668.1:c.47T>C, NP_862830.1:p.Val16Ala, XP_047284741.1:p.Val16Ala, NP_001357228.1:p.Val16Ala, NP_001137140.1:p.Val16Ala

Select item 145355515916.

rs1453555159 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:47077667 (GRCh38)
12:47471450 (GRCh37)
Canonical SPDI:: NC_000012.12:47077666:T:A
Gene:: PCED1B (Varview), AMIGO2 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.47077667T>A, NC_000012.11:g.47471450T>A, NM_181847.4:c.1336A>T, XM_047428785.1:c.1336A>T, NM_001370299.1:c.1336A>T, NM_001143668.1:c.1336A>T, NP_862830.1:p.Ser446Cys, XP_047284741.1:p.Ser446Cys, NP_001357228.1:p.Ser446Cys, NP_001137140.1:p.Ser446Cys

Select item 145344645317.

rs1453446453 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 12:47078557 (GRCh38)
12:47472340 (GRCh37)
Canonical SPDI:: NC_000012.12:47078556:T:
Gene:: PCED1B (Varview), AMIGO2 (Varview)
Functional Consequence:: frameshift_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.47078557del, NC_000012.11:g.47472340del, NM_181847.4:c.446del, XM_047428785.1:c.446del, NM_001370299.1:c.446del, NM_001143668.1:c.446del, NP_862830.1:p.Tyr149fs, XP_047284741.1:p.Tyr149fs, NP_001357228.1:p.Tyr149fs, NP_001137140.1:p.Tyr149fs

Select item 145237486118.

rs1452374861 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:47078308 (GRCh38)
12:47472091 (GRCh37)
Canonical SPDI:: NC_000012.12:47078307:C:G
Gene:: PCED1B (Varview), AMIGO2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.47078308C>G, NC_000012.11:g.47472091C>G, NM_181847.4:c.695G>C, XM_047428785.1:c.695G>C, NM_001370299.1:c.695G>C, NM_001143668.1:c.695G>C, NP_862830.1:p.Cys232Ser, XP_047284741.1:p.Cys232Ser, NP_001357228.1:p.Cys232Ser, NP_001137140.1:p.Cys232Ser

Select item 145147047719.

rs1451470477 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:47078905 (GRCh38)
12:47472688 (GRCh37)
Canonical SPDI:: NC_000012.12:47078904:A:G
Gene:: PCED1B (Varview), AMIGO2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.47078905A>G, NC_000012.11:g.47472688A>G, NM_181847.4:c.98T>C, XM_047428785.1:c.98T>C, NM_001370299.1:c.98T>C, NM_001143668.1:c.98T>C, NP_862830.1:p.Val33Ala, XP_047284741.1:p.Val33Ala, NP_001357228.1:p.Val33Ala, NP_001137140.1:p.Val33Ala

Select item 145075417920.

rs1450754179 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:47077716 (GRCh38)
12:47471499 (GRCh37)
Canonical SPDI:: NC_000012.12:47077715:C:G,NC_000012.12:47077715:C:T
Gene:: PCED1B (Varview), AMIGO2 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.47077716C>G, NC_000012.12:g.47077716C>T, NC_000012.11:g.47471499C>G, NC_000012.11:g.47471499C>T, NM_181847.4:c.1287G>C, NM_181847.4:c.1287G>A, XM_047428785.1:c.1287G>C, XM_047428785.1:c.1287G>A, NM_001370299.1:c.1287G>C, NM_001370299.1:c.1287G>A, NM_001143668.1:c.1287G>C, NM_001143668.1:c.1287G>A, NP_862830.1:p.Lys429Asn, XP_047284741.1:p.Lys429Asn, NP_001357228.1:p.Lys429Asn, NP_001137140.1:p.Lys429Asn

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