SNP Links for Gene (Select 387742) - SNP

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Select item 14909296051.

rs1490929605 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:1666850 (GRCh38)
11:1688080 (GRCh37)
Canonical SPDI:: NC_000011.10:1666849:G:A,NC_000011.10:1666849:G:C
Gene:: FAM99A (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000053/3 (GnomAD)
A=0.000071/1 (TOMMO)
HGVS:: NC_000011.10:g.1666850G>A, NC_000011.10:g.1666850G>C, NC_000011.9:g.1688080G>A, NC_000011.9:g.1688080G>C, NW_025791792.1:g.406826G>A, NW_025791792.1:g.406826G>C, NT_187657.1:g.140953G>A, NT_187657.1:g.140953G>C, NT_187584.1:g.149087G>A, NT_187584.1:g.149087G>C, NR_026643.1:n.424G>A, NR_026643.1:n.424G>C, NM_001014374.1:c.*309G>A, NM_001014374.1:c.*309G>C

Select item 14908034822.

rs1490803482 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 11:1664168 (GRCh38)
11:1685398 (GRCh37)
Canonical SPDI:: NC_000011.10:1664167:A:C,NC_000011.10:1664167:A:T
Gene:: FAM99A (Varview), LOC124902609 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.1664168A>C, NC_000011.10:g.1664168A>T, NC_000011.9:g.1685398A>C, NC_000011.9:g.1685398A>T, NW_025791792.1:g.404144A>C, NW_025791792.1:g.404144A>T, NT_187657.1:g.137928A>C, NT_187657.1:g.137928A>T, NT_187584.1:g.146405A>C, NT_187584.1:g.146405A>T

Select item 14894405933.

rs1489440593 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:1664765 (GRCh38)
11:1685995 (GRCh37)
Canonical SPDI:: NC_000011.10:1664764:G:A
Gene:: FAM99A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00016/2 (TOMMO)
A=0.00031/2 (1000Genomes)
A=0.0022/6 (KOREAN)
HGVS:: NC_000011.10:g.1664765G>A, NC_000011.9:g.1685995G>A, NW_025791792.1:g.404741G>A, NT_187657.1:g.138784G>A, NT_187584.1:g.147002G>A

Select item 14886188164.

rs1488618816 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:1667002 (GRCh38)
11:1688232 (GRCh37)
Canonical SPDI:: NC_000011.10:1667001:T:C
Gene:: FAM99A (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.1667002T>C, NC_000011.9:g.1688232T>C, NW_025791792.1:g.406978T>C, NT_187657.1:g.141105T>C, NT_187584.1:g.149239T>C, NR_026643.1:n.576T>C, NM_001014374.1:c.*461T>C

Select item 14884736375.

rs1488473637 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:1664959 (GRCh38)
11:1686189 (GRCh37)
Canonical SPDI:: NC_000011.10:1664958:C:T
Gene:: FAM99A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00008/1 (ALFA)
T=0.00031/2 (1000Genomes)
HGVS:: NC_000011.10:g.1664959C>T, NC_000011.9:g.1686189C>T, NW_025791792.1:g.404935C>T, NT_187657.1:g.138978C>T, NT_187584.1:g.147196C>T

Select item 14884249936.

rs1488424993 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:1666952 (GRCh38)
11:1688182 (GRCh37)
Canonical SPDI:: NC_000011.10:1666951:C:T
Gene:: FAM99A (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.1666952C>T, NC_000011.9:g.1688182C>T, NW_025791792.1:g.406928C>T, NT_187657.1:g.141055C>T, NT_187584.1:g.149189C>T, NR_026643.1:n.526C>T, NM_001014374.1:c.*411C>T

Select item 14878161987.

rs1487816198 [Homo sapiens]

Variant type:: DEL
Alleles:: TGG>- [Show Flanks]
Chromosome:: 11:1666223 (GRCh38)
11:1687453 (GRCh37)
Canonical SPDI:: NC_000011.10:1666222:TGG:
Gene:: FAM99A (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000011.10:g.1666223_1666225del, NC_000011.9:g.1687453_1687455del, NW_025791792.1:g.406199_406201del, NT_187657.1:g.140327_140329del, NT_187584.1:g.148460_148462del, NM_001014374.1:c.202_204del

Select item 14876030698.

rs1487603069 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:1663997 (GRCh38)
11:1685227 (GRCh37)
Canonical SPDI:: NC_000011.10:1663996:A:T
Gene:: FAM99A (Varview), LOC124902609 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.1663997A>T, NC_000011.9:g.1685227A>T, NW_025791792.1:g.403973A>T, NT_187657.1:g.137757A>T, NT_187584.1:g.146234A>T

Select item 14874911089.

rs1487491108 [Homo sapiens]

Variant type:: SNV:
Alleles:: C>T
Chromosome:: no mapping
Canonical SPDI:

Select item 148748303310.

rs1487483033 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:1664224 (GRCh38)
11:1685454 (GRCh37)
Canonical SPDI:: NC_000011.10:1664223:A:G
Gene:: FAM99A (Varview), LOC124902609 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.1664224A>G, NC_000011.9:g.1685454A>G, NW_025791792.1:g.404200A>G, NT_187657.1:g.137984A>G, NT_187584.1:g.146461A>G

Select item 148746863311.

rs1487468633 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:1666098 (GRCh38)
11:1687328 (GRCh37)
Canonical SPDI:: NC_000011.10:1666097:A:G
Gene:: FAM99A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00152/18 (ALFA)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000011.10:g.1666098A>G, NC_000011.9:g.1687328A>G, NW_025791792.1:g.406074A>G, NT_187657.1:g.140192A>G, NT_187584.1:g.148335A>G, NM_001014374.1:c.77A>G

Select item 148745803312.

rs1487458033 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 11:1664529 (GRCh38)
11:1685759 (GRCh37)
Canonical SPDI:: NC_000011.10:1664528:A:
Gene:: FAM99A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00205/10 (GnomAD)
HGVS:: NC_000011.10:g.1664529del, NC_000011.9:g.1685759del, NW_025791792.1:g.404505del, NT_187657.1:g.138289del, NT_187584.1:g.146766del

Select item 148724685413.

rs1487246854 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:1664873 (GRCh38)
11:1686103 (GRCh37)
Canonical SPDI:: NC_000011.10:1664872:T:C
Gene:: FAM99A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.1664873T>C, NC_000011.9:g.1686103T>C, NW_025791792.1:g.404849T>C, NT_187657.1:g.138892T>C, NT_187584.1:g.147110T>C

Select item 148709267814.

rs1487092678 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:1667421 (GRCh38)
11:1688651 (GRCh37)
Canonical SPDI:: NC_000011.10:1667420:G:T
Gene:: FAM99A (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000064/17 (TOPMED)
HGVS:: NC_000011.10:g.1667421G>T, NC_000011.9:g.1688651G>T, NW_025791792.1:g.407397G>T, NT_187657.1:g.141524G>T, NT_187584.1:g.149658G>T, NR_026643.1:n.995G>T, NM_001014374.1:c.*880G>T

Select item 148588081415.

rs1485880814 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 11:1667975 (GRCh38)
11:1689205 (GRCh37)
Canonical SPDI:: NC_000011.10:1667974:T:C,NC_000011.10:1667974:T:G
Gene:: FAM99A (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.1667975T>C, NC_000011.10:g.1667975T>G, NC_000011.9:g.1689205T>C, NC_000011.9:g.1689205T>G, NW_025791792.1:g.407951T>C, NW_025791792.1:g.407951T>G, NT_187657.1:g.142078T>C, NT_187657.1:g.142078T>G, NT_187584.1:g.150212T>C, NT_187584.1:g.150212T>G

Select item 148550860016.

rs1485508600 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 11:1664681 (GRCh38)
11:1685911 (GRCh37)
Canonical SPDI:: NC_000011.10:1664680:T:A,NC_000011.10:1664680:T:G
Gene:: FAM99A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00529/59 (ALFA)
T=0./0 (SGDP_PRJ)
G=0.00169/25 (TOMMO)
G=0.01991/54 (KOREAN)
HGVS:: NC_000011.10:g.1664681T>A, NC_000011.10:g.1664681T>G, NC_000011.9:g.1685911T>A, NC_000011.9:g.1685911T>G, NW_025791792.1:g.404657T>A, NW_025791792.1:g.404657T>G, NT_187657.1:g.138449G>T, NT_187657.1:g.138449G>A, NT_187584.1:g.146918T>A, NT_187584.1:g.146918T>G

Select item 148497041417.

rs1484970414 [Homo sapiens]

Variant type:: DEL
Alleles:: CCC>- [Show Flanks]
Chromosome:: 11:1665134 (GRCh38)
11:1686364 (GRCh37)
Canonical SPDI:: NC_000011.10:1665133:CCC:
Gene:: FAM99A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000011.10:g.1665134_1665136del, NC_000011.9:g.1686364_1686366del, NW_025791792.1:g.405110_405112del, NT_187657.1:g.139153_139155del, NT_187584.1:g.147371_147373del

Select item 148447368118.

rs1484473681 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:1665016 (GRCh38)
11:1686246 (GRCh37)
Canonical SPDI:: NC_000011.10:1665015:T:C
Gene:: FAM99A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00111/3 (KOREAN)
HGVS:: NC_000011.10:g.1665016T>C, NC_000011.9:g.1686246T>C, NW_025791792.1:g.404992T>C, NT_187657.1:g.139035T>C, NT_187584.1:g.147253T>C

Select item 148391913319.

rs1483919133 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:1666278 (GRCh38)
11:1687508 (GRCh37)
Canonical SPDI:: NC_000011.10:1666277:C:G,NC_000011.10:1666277:C:T
Gene:: FAM99A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00098/16 (TOMMO)
T=0.01315/38 (KOREAN)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000011.10:g.1666278C>G, NC_000011.10:g.1666278C>T, NC_000011.9:g.1687508C>G, NC_000011.9:g.1687508C>T, NW_025791792.1:g.406254C>G, NW_025791792.1:g.406254C>T, NT_187657.1:g.140382C>G, NT_187657.1:g.140382C>T, NT_187584.1:g.148515C>G, NT_187584.1:g.148515C>T, NM_001014374.1:c.301C>G, NM_001014374.1:c.301C>T

Select item 148303849520.

rs1483038495 [Homo sapiens]

Variant type:: SNV:
Alleles:: C>A
Chromosome:: no mapping
Canonical SPDI:

dbSNP

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