SNP Links for Gene (Select 401472) - SNP

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Select item 14904526271.

rs1490452627 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:102806981 (GRCh38)
8:103819209 (GRCh37)
Canonical SPDI:: NC_000008.11:102806980:G:A
Gene:: GASAL1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.102806981G>A, NC_000008.10:g.103819209G>A, NR_149020.1:n.160G>A, NM_207505.1:c.140G>A

Select item 14904270452.

rs1490427045 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:102807858 (GRCh38)
8:103820086 (GRCh37)
Canonical SPDI:: NC_000008.11:102807857:C:G,NC_000008.11:102807857:C:T
Gene:: GASAL1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000008.11:g.102807858C>G, NC_000008.11:g.102807858C>T, NC_000008.10:g.103820086C>G, NC_000008.10:g.103820086C>T, NR_149020.1:n.1037C>G, NR_149020.1:n.1037C>T, NM_207505.1:c.*479C>G, NM_207505.1:c.*479C>T

Select item 14901046003.

rs1490104600 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 8:102807078 (GRCh38)
8:103819306 (GRCh37)
Canonical SPDI:: NC_000008.11:102807077:GGG:GG
Gene:: GASAL1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.102807080del, NC_000008.10:g.103819308del, NR_149020.1:n.259del, NM_207505.1:c.239del

Select item 14891024574.

rs1489102457 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAT>- [Show Flanks]
Chromosome:: 8:102808805 (GRCh38)
8:103821033 (GRCh37)
Canonical SPDI:: NC_000008.11:102808800:TGATGAT:TGAT
Gene:: GASAL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGAT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.102808802GAT[1], NC_000008.10:g.103821030GAT[1]

Select item 14887056615.

rs1488705661 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGAGC>- [Show Flanks]
Chromosome:: 8:102809239 (GRCh38)
8:103821467 (GRCh37)
Canonical SPDI:: NC_000008.11:102809237:CCGAGC:C
Gene:: GASAL1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.102809239_102809243del, NC_000008.10:g.103821467_103821471del, NR_149020.1:n.2038_2042del, NM_207505.1:c.*1480_*1484del

Select item 14881726566.

rs1488172656 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 8:102807364 (GRCh38)
8:103819592 (GRCh37)
Canonical SPDI:: NC_000008.11:102807363:T:
Gene:: GASAL1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.102807364del, NC_000008.10:g.103819592del, NR_149020.1:n.543del, NM_207505.1:c.522del

Select item 14880166267.

rs1488016626 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:102809241 (GRCh38)
8:103821469 (GRCh37)
Canonical SPDI:: NC_000008.11:102809240:A:C
Gene:: GASAL1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000084/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.102809241A>C, NC_000008.10:g.103821469A>C, NR_149020.1:n.2040A>C, NM_207505.1:c.*1482A>C

Select item 14877611028.

rs1487761102 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:102807212 (GRCh38)
8:103819440 (GRCh37)
Canonical SPDI:: NC_000008.11:102807211:A:G
Gene:: GASAL1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.102807212A>G, NC_000008.10:g.103819440A>G, NR_149020.1:n.391A>G, NM_207505.1:c.370A>G

Select item 14875354539.

rs1487535453 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:102808449 (GRCh38)
8:103820677 (GRCh37)
Canonical SPDI:: NC_000008.11:102808448:T:C
Gene:: GASAL1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.102808449T>C, NC_000008.10:g.103820677T>C, NR_149020.1:n.1628T>C, NM_207505.1:c.*1070T>C

Select item 148699380910.

rs1486993809 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 8:102807251 (GRCh38)
8:103819480 (GRCh37)
Canonical SPDI:: NC_000008.11:102807251::T
Gene:: GASAL1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.102807251_102807252insT, NC_000008.10:g.103819479_103819480insT, NR_149020.1:n.430_431insT, NM_207505.1:c.409_410insT

Select item 148672912511.

rs1486729125 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:102807759 (GRCh38)
8:103819987 (GRCh37)
Canonical SPDI:: NC_000008.11:102807758:T:C
Gene:: GASAL1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.102807759T>C, NC_000008.10:g.103819987T>C, NR_149020.1:n.938T>C, NM_207505.1:c.*380T>C

Select item 148661032712.

rs1486610327 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:102806166 (GRCh38)
8:103818394 (GRCh37)
Canonical SPDI:: NC_000008.11:102806165:A:G
Gene:: GASAL1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
G=0.000071/1 (TOMMO)
HGVS:: NC_000008.11:g.102806166A>G, NC_000008.10:g.103818394A>G

Select item 148631480013.

rs1486314800 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:102809581 (GRCh38)
8:103821809 (GRCh37)
Canonical SPDI:: NC_000008.11:102809580:C:A
Gene:: GASAL1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00027/5 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000893/4 (Estonian)
HGVS:: NC_000008.11:g.102809581C>A, NC_000008.10:g.103821809C>A, NR_149020.1:n.2380C>A, NM_207505.1:c.*1817C>A

Select item 148623987914.

rs1486239879 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:102808751 (GRCh38)
8:103820979 (GRCh37)
Canonical SPDI:: NC_000008.11:102808750:C:A
Gene:: GASAL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.102808751C>A, NC_000008.10:g.103820979C>A

Select item 148620567415.

rs1486205674 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:102806409 (GRCh38)
8:103818637 (GRCh37)
Canonical SPDI:: NC_000008.11:102806408:G:A
Gene:: GASAL1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000008.11:g.102806409G>A, NC_000008.10:g.103818637G>A

Select item 148467275216.

rs1484672752 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:102810557 (GRCh38)
8:103822785 (GRCh37)
Canonical SPDI:: NC_000008.11:102810556:G:A
Gene:: GASAL1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
A=0.000468/3 (1000Genomes)
HGVS:: NC_000008.11:g.102810557G>A, NC_000008.10:g.103822785G>A, NR_149020.1:n.3356G>A

Select item 148444699717.

rs1484446997 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCACGGTGGC [Show Flanks]
Chromosome:: 8:102809646 (GRCh38)
8:103821875 (GRCh37)
Canonical SPDI:: NC_000008.11:102809646:GCACGGTGGC:GCACGGTGGCGCACGGTGGC
Gene:: GASAL1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCACGGTGGCGCACGGTGGC=0./0 (ALFA)
GCACGGTGGC=0.000004/1 (TOPMED)
GCACGGTGGC=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.102809647_102809656dup, NC_000008.10:g.103821875_103821884dup, NR_149020.1:n.2446_2455dup, NM_207505.1:c.*1883_*1892dup

Select item 148429326818.

rs1484293268 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGGGTGGGAGGGCGC [Show Flanks]
Chromosome:: 8:102810737 (GRCh38)
8:103822966 (GRCh37)
Canonical SPDI:: NC_000008.11:102810737:GCGCTGGGTGGGAGGGCGC:GCGCTGGGTGGGAGGGCGCTGGGTGGGAGGGCGC
Gene:: GASAL1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: GCGCTGGGTGGGAGGGCGCTGGGTGGGAGGGCGC=0./0 (ALFA)
GCGCTGGGTGGGAGG=0.000027/3 (GnomAD)
HGVS:: NC_000008.11:g.102810742_102810756dup, NC_000008.10:g.103822970_103822984dup, NR_149020.1:n.3541_3555dup

Select item 148312417819.

rs1483124178 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 8:102811445 (GRCh38)
8:103823673 (GRCh37)
Canonical SPDI:: NC_000008.11:102811444:T:A,NC_000008.11:102811444:T:G
Gene:: GASAL1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.102811445T>A, NC_000008.11:g.102811445T>G, NC_000008.10:g.103823673T>A, NC_000008.10:g.103823673T>G

Select item 148310434220.

rs1483104342 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:102805336 (GRCh38)
8:103817564 (GRCh37)
Canonical SPDI:: NC_000008.11:102805335:A:G
Gene:: GASAL1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000008.11:g.102805336A>G, NC_000008.10:g.103817564A>G

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