SNP Links for Gene (Select 191585) - SNP

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Select item 14908067751.

rs1490806775 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:41186232 (GRCh38)
21:42558159 (GRCh37)
Canonical SPDI:: NC_000021.9:41186231:C:A
Gene:: BACE2 (Varview), PLAC4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_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_000021.9:g.41186232C>A, NC_000021.8:g.42558159C>A

Select item 14905440332.

rs1490544033 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:41177767 (GRCh38)
21:42549694 (GRCh37)
Canonical SPDI:: NC_000021.9:41177766:A:G
Gene:: BACE2 (Varview), PLAC4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000042/11 (TOPMED)
HGVS:: NC_000021.9:g.41177767A>G, NC_000021.8:g.42549694A>G, NM_182832.2:c.*1409T>C, NR_148920.1:n.7473T>C

Select item 14902920503.

rs1490292050 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 21:41184630 (GRCh38)
21:42556557 (GRCh37)
Canonical SPDI:: NC_000021.9:41184629:G:A,NC_000021.9:41184629:G:C
Gene:: BACE2 (Varview), PLAC4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.41184630G>A, NC_000021.9:g.41184630G>C, NC_000021.8:g.42556557G>A, NC_000021.8:g.42556557G>C, NM_182832.2:c.-5002C>T, NM_182832.2:c.-5002C>G, NR_148920.1:n.610C>T, NR_148920.1:n.610C>G

Select item 14900634864.

rs1490063486 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:41181403 (GRCh38)
21:42553330 (GRCh37)
Canonical SPDI:: NC_000021.9:41181402:G:A
Gene:: BACE2 (Varview), PLAC4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_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_000021.9:g.41181403G>A, NC_000021.8:g.42553330G>A, NM_182832.2:c.-1775C>T, NR_148920.1:n.3837C>T

Select item 14898964355.

rs1489896435 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:41182556 (GRCh38)
21:42554483 (GRCh37)
Canonical SPDI:: NC_000021.9:41182555:T:C
Gene:: BACE2 (Varview), PLAC4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_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_000021.9:g.41182556T>C, NC_000021.8:g.42554483T>C, NM_182832.2:c.-2928A>G, NR_148920.1:n.2684A>G

Select item 14892829056.

rs1489282905 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 21:41184180 (GRCh38)
21:42556107 (GRCh37)
Canonical SPDI:: NC_000021.9:41184179:C:A,NC_000021.9:41184179:C:T
Gene:: BACE2 (Varview), PLAC4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000034/9 (TOPMED)
A=0.000043/6 (GnomAD)
HGVS:: NC_000021.9:g.41184180C>A, NC_000021.9:g.41184180C>T, NC_000021.8:g.42556107C>A, NC_000021.8:g.42556107C>T, NM_182832.2:c.-4552G>T, NM_182832.2:c.-4552G>A, NR_148920.1:n.1060G>T, NR_148920.1:n.1060G>A

Select item 14892025467.

rs1489202546 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:41183028 (GRCh38)
21:42554955 (GRCh37)
Canonical SPDI:: NC_000021.9:41183027:C:G
Gene:: BACE2 (Varview), PLAC4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_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_000021.9:g.41183028C>G, NC_000021.8:g.42554955C>G, NM_182832.2:c.-3400G>C, NR_148920.1:n.2212G>C

Select item 14891684828.

rs1489168482 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAG>- [Show Flanks]
Chromosome:: 21:41179143 (GRCh38)
21:42551070 (GRCh37)
Canonical SPDI:: NC_000021.9:41179139:GAGGAG:GAG
Gene:: BACE2 (Varview), PLAC4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGGAG=0.00056/5 (ALFA)
-=0.00069/19 (TOMMO)
HGVS:: NC_000021.9:g.41179140GAG[1], NC_000021.8:g.42551067GAG[1], NM_182832.2:c.*31CTC[1], NR_148920.1:n.6095CTC[1]

Select item 14890680699.

rs1489068069 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:41179960 (GRCh38)
21:42551887 (GRCh37)
Canonical SPDI:: NC_000021.9:41179959:G:A
Gene:: BACE2 (Varview), PLAC4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_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_000021.9:g.41179960G>A, NC_000021.8:g.42551887G>A, NM_182832.2:c.-332C>T, NR_148920.1:n.5280C>T

Select item 148854684410.

rs1488546844 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:41187230 (GRCh38)
21:42559157 (GRCh37)
Canonical SPDI:: NC_000021.9:41187229:C:T
Gene:: BACE2 (Varview), PLAC4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.41187230C>T, NC_000021.8:g.42559157C>T

Select item 148797262411.

rs1487972624 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:41177025 (GRCh38)
21:42548952 (GRCh37)
Canonical SPDI:: NC_000021.9:41177024:A:G
Gene:: BACE2 (Varview), PLAC4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000021.9:g.41177025A>G, NC_000021.8:g.42548952A>G, NM_182832.2:c.*2151T>C, NR_148920.1:n.8215T>C

Select item 148792188912.

rs1487921889 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAACT>- [Show Flanks]
Chromosome:: 21:41178363 (GRCh38)
21:42550290 (GRCh37)
Canonical SPDI:: NC_000021.9:41178361:TATAACT:T
Gene:: BACE2 (Varview), PLAC4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.41178363_41178368del, NC_000021.8:g.42550290_42550295del, NM_182832.2:c.*809_*814del, NR_148920.1:n.6873_6878del

Select item 148753575513.

rs1487535755 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:41186333 (GRCh38)
21:42558260 (GRCh37)
Canonical SPDI:: NC_000021.9:41186332:G:C
Gene:: BACE2 (Varview), PLAC4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000214/3 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000034/9 (TOPMED)
HGVS:: NC_000021.9:g.41186333G>C, NC_000021.8:g.42558260G>C

Select item 148731403714.

rs1487314037 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:41183114 (GRCh38)
21:42555041 (GRCh37)
Canonical SPDI:: NC_000021.9:41183113:A:G
Gene:: BACE2 (Varview), PLAC4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_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_000021.9:g.41183114A>G, NC_000021.8:g.42555041A>G, NM_182832.2:c.-3486T>C, NR_148920.1:n.2126T>C

Select item 148724171815.

rs1487241718 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:41182082 (GRCh38)
21:42554009 (GRCh37)
Canonical SPDI:: NC_000021.9:41182081:A:G
Gene:: BACE2 (Varview), PLAC4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_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_000021.9:g.41182082A>G, NC_000021.8:g.42554009A>G, NM_182832.2:c.-2454T>C, NR_148920.1:n.3158T>C

Select item 148704005916.

rs1487040059 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 21:41178272 (GRCh38)
21:42550199 (GRCh37)
Canonical SPDI:: NC_000021.9:41178271:T:G
Gene:: BACE2 (Varview), PLAC4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.41178272T>G, NC_000021.8:g.42550199T>G, NM_182832.2:c.*904A>C, NR_148920.1:n.6968A>C

Select item 148685562417.

rs1486855624 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:41182727 (GRCh38)
21:42554654 (GRCh37)
Canonical SPDI:: NC_000021.9:41182726:A:G
Gene:: BACE2 (Varview), PLAC4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.41182727A>G, NC_000021.8:g.42554654A>G, NM_182832.2:c.-3099T>C, NR_148920.1:n.2513T>C

Select item 148649468418.

rs1486494684 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:41180491 (GRCh38)
21:42552418 (GRCh37)
Canonical SPDI:: NC_000021.9:41180490:G:A
Gene:: BACE2 (Varview), PLAC4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.41180491G>A, NC_000021.8:g.42552418G>A, NM_182832.2:c.-863C>T, NR_148920.1:n.4749C>T

Select item 148601098619.

rs1486010986 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:41185161 (GRCh38)
21:42557088 (GRCh37)
Canonical SPDI:: NC_000021.9:41185160:C:T
Gene:: BACE2 (Varview), PLAC4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.41185161C>T, NC_000021.8:g.42557088C>T, NM_182832.2:c.-5533G>A, NR_148920.1:n.79G>A

Select item 148587213820.

rs1485872138 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 21:41182327 (GRCh38)
21:42554254 (GRCh37)
Canonical SPDI:: NC_000021.9:41182326:A:T
Gene:: BACE2 (Varview), PLAC4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.41182327A>T, NC_000021.8:g.42554254A>T, NM_182832.2:c.-2699T>A, NR_148920.1:n.2913T>A