SNP Links for Gene (Select 79187) - SNP

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Items: 1 to 20 of 6008

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Select item 14912080091.

rs1491208009 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 19:4321312 (GRCh38)
19:4321309 (GRCh37)
Canonical SPDI:: NC_000019.10:4321309:TGTG:TG
Gene:: FSD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGTG=0.00008/1 (ALFA)
HGVS:: NC_000019.10:g.4321310TG[1], NC_000019.9:g.4321307TG[1]

Select item 14908779832.

rs1490877983 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTAAT>- [Show Flanks]
Chromosome:: 19:4302608 (GRCh38)
19:4302605 (GRCh37)
Canonical SPDI:: NC_000019.10:4302606:TGTAAT:T
Gene:: FSD1 (Varview), TMIGD2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.4302608_4302612del, NC_000019.9:g.4302605_4302609del

Select item 14907261773.

rs1490726177 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:4319531 (GRCh38)
19:4319528 (GRCh37)
Canonical SPDI:: NC_000019.10:4319530:A:C
Gene:: FSD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000019.10:g.4319531A>C, NC_000019.9:g.4319528A>C

Select item 14906958994.

rs1490695899 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:4318568 (GRCh38)
19:4318565 (GRCh37)
Canonical SPDI:: NC_000019.10:4318567:G:T
Gene:: FSD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.4318568G>T, NC_000019.9:g.4318565G>T

Select item 14906273325.

rs1490627332 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:4312517 (GRCh38)
19:4312514 (GRCh37)
Canonical SPDI:: NC_000019.10:4312516:A:C,NC_000019.10:4312516:A:G
Gene:: FSD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.4312517A>C, NC_000019.10:g.4312517A>G, NC_000019.9:g.4312514A>C, NC_000019.9:g.4312514A>G

Select item 14905962726.

rs1490596272 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:4315703 (GRCh38)
19:4315700 (GRCh37)
Canonical SPDI:: NC_000019.10:4315702:C:G
Gene:: FSD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000082/1 (ALFA)
G=0.000051/7 (GnomAD)
HGVS:: NC_000019.10:g.4315703C>G, NC_000019.9:g.4315700C>G

Select item 14905639517.

rs1490563951 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:4314424 (GRCh38)
19:4314421 (GRCh37)
Canonical SPDI:: NC_000019.10:4314423:A:G
Gene:: FSD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.4314424A>G, NC_000019.9:g.4314421A>G

Select item 14904973808.

rs1490497380 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:4323406 (GRCh38)
19:4323403 (GRCh37)
Canonical SPDI:: NC_000019.10:4323405:G:A
Gene:: FSD1 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_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_000019.10:g.4323406G>A, NC_000019.9:g.4323403G>A, NM_024333.3:c.1350G>A, NM_024333.2:c.1350G>A, NM_001330429.2:c.1259G>A, NM_001330429.1:c.1259G>A, NP_001317358.1:p.Gly420Asp

Select item 14903490819.

rs1490349081 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:4317547 (GRCh38)
19:4317544 (GRCh37)
Canonical SPDI:: NC_000019.10:4317546:G:A
Gene:: FSD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000072/19 (TOPMED)
HGVS:: NC_000019.10:g.4317547G>A, NC_000019.9:g.4317544G>A

Select item 149033248210.

rs1490332482 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGCAACTG [Show Flanks]
Chromosome:: 19:4323089 (GRCh38)
19:4323087 (GRCh37)
Canonical SPDI:: NC_000019.10:4323089:GAGCAACTG:GAGCAACTGAGCAACTG
Gene:: FSD1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: GAGCAACT=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.4323091_4323098dup, NC_000019.9:g.4323088_4323095dup, NM_024333.3:c.1145_1152dup, NM_024333.2:c.1145_1152dup, NM_001330429.2:c.1145_1152dup, NM_001330429.1:c.1145_1152dup, NP_077309.1:p.Gly385fs, NP_001317358.1:p.Gly385fs

Select item 149029268111.

rs1490292681 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:4319866 (GRCh38)
19:4319863 (GRCh37)
Canonical SPDI:: NC_000019.10:4319865:A:G
Gene:: FSD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.4319866A>G, NC_000019.9:g.4319863A>G

Select item 149028195012.

rs1490281950 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:4321023 (GRCh38)
19:4321020 (GRCh37)
Canonical SPDI:: NC_000019.10:4321022:C:T
Gene:: FSD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.4321023C>T, NC_000019.9:g.4321020C>T

Select item 149027656313.

rs1490276563 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:4324128 (GRCh38)
19:4324125 (GRCh37)
Canonical SPDI:: NC_000019.10:4324127:C:A
Gene:: STAP2 (Varview), FSD1 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.4324128C>A, NC_000019.9:g.4324125C>A, NM_017720.3:c.*5G>T, NM_017720.2:c.*5G>T, XM_011528123.2:c.*5G>T, XM_011528123.1:c.*5G>T, NM_001013841.2:c.*5G>T, NM_001013841.1:c.*5G>T

Select item 149026235714.

rs1490262357 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:4308298 (GRCh38)
19:4308295 (GRCh37)
Canonical SPDI:: NC_000019.10:4308297:C:T
Gene:: FSD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.4308298C>T, NC_000019.9:g.4308295C>T

Select item 149017386715.

rs1490173867 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:4313534 (GRCh38)
19:4313531 (GRCh37)
Canonical SPDI:: NC_000019.10:4313533:A:G
Gene:: FSD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.4313534A>G, NC_000019.9:g.4313531A>G

Select item 149016339716.

rs1490163397 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:4314385 (GRCh38)
19:4314382 (GRCh37)
Canonical SPDI:: NC_000019.10:4314384:C:A
Gene:: FSD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.4314385C>A, NC_000019.9:g.4314382C>A

Select item 149003404517.

rs1490034045 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:4305307 (GRCh38)
19:4305304 (GRCh37)
Canonical SPDI:: NC_000019.10:4305306:C:T
Gene:: FSD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.4305307C>T, NC_000019.9:g.4305304C>T

Select item 148978288818.

rs1489782888 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:4321289 (GRCh38)
19:4321286 (GRCh37)
Canonical SPDI:: NC_000019.10:4321288:T:C
Gene:: FSD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.4321289T>C, NC_000019.9:g.4321286T>C

Select item 148977369219.

rs1489773692 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:4316608 (GRCh38)
19:4316605 (GRCh37)
Canonical SPDI:: NC_000019.10:4316607:A:C
Gene:: FSD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.4316608A>C, NC_000019.9:g.4316605A>C

Select item 148976239820.

rs1489762398 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:4316562 (GRCh38)
19:4316559 (GRCh37)
Canonical SPDI:: NC_000019.10:4316561:C:T
Gene:: FSD1 (Varview)
Functional Consequence:: 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_000019.10:g.4316562C>T, NC_000019.9:g.4316559C>T

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