SNP Links for Gene (Select 10750) - SNP

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Select item 14915075291.

rs1491507529 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACGC,ACGCACGCGC,ACGCGC,ACGCGCGC [Show Flanks]
Chromosome:: 17:19027469 (GRCh38)
17:18930783 (GRCh37)
Canonical SPDI:: NC_000017.11:19027469:GC:GCACGC,NC_000017.11:19027469:GC:GCACGCACGCGC,NC_000017.11:19027469:GC:GCACGCGC,NC_000017.11:19027469:GC:GCACGCGCGC
Gene:: GRAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCACGCACGCGC=0./0 (ALFA)
GCAC=0.00713/112 (TOMMO)
HGVS:: NC_000017.11:g.19027471_19027472insACGC, NC_000017.11:g.19027470_19027471GCAC[2]GC[2], NC_000017.11:g.19027471_19027472insACGCGC, NC_000017.11:g.19027471_19027472insACGCGCGC, NC_000017.10:g.18930784_18930785insACGC, NC_000017.10:g.18930783_18930784GCAC[2]GC[2], NC_000017.10:g.18930784_18930785insACGCGC, NC_000017.10:g.18930784_18930785insACGCGCGC

Select item 14913027442.

rs1491302744 has merged into rs756824381 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCGCGCGCGCGCGC>-,GC,GCGC,GCGCGC,GCGCGCGC,GCGCGCGCGC,GCGCGCGCGCGC,GCGCGCGCGCGCGCGC,GCGCGCGCGCGCGCGCGC,GCGCGCGCGCGCGCGCGCGC [Show Flanks]
Chromosome:: 17:19027472 (GRCh38)
17:18930785 (GRCh37)
Canonical SPDI:: NC_000017.11:19027469:GCGCGCGCGCGCGCGC:GC,NC_000017.11:19027469:GCGCGCGCGCGCGCGC:GCGC,NC_000017.11:19027469:GCGCGCGCGCGCGCGC:GCGCGC,NC_000017.11:19027469:GCGCGCGCGCGCGCGC:GCGCGCGC,NC_000017.11:19027469:GCGCGCGCGCGCGCGC:GCGCGCGCGC,NC_000017.11:19027469:GCGCGCGCGCGCGCGC:GCGCGCGCGCGC,NC_000017.11:19027469:GCGCGCGCGCGCGCGC:GCGCGCGCGCGCGC,NC_000017.11:19027469:GCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGC,NC_000017.11:19027469:GCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGC,NC_000017.11:19027469:GCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGC
Gene:: GRAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGC=0./0 (ALFA)
GCGCGC=0.000004/1 (TOPMED)
-=0.278931/1075 (ALSPAC)
HGVS:: NC_000017.11:g.19027470GC[1], NC_000017.11:g.19027470GC[2], NC_000017.11:g.19027470GC[3], NC_000017.11:g.19027470GC[4], NC_000017.11:g.19027470GC[5], NC_000017.11:g.19027470GC[6], NC_000017.11:g.19027470GC[7], NC_000017.11:g.19027470GC[9], NC_000017.11:g.19027470GC[10], NC_000017.11:g.19027470GC[11], NC_000017.10:g.18930783GC[1], NC_000017.10:g.18930783GC[2], NC_000017.10:g.18930783GC[3], NC_000017.10:g.18930783GC[4], NC_000017.10:g.18930783GC[5], NC_000017.10:g.18930783GC[6], NC_000017.10:g.18930783GC[7], NC_000017.10:g.18930783GC[9], NC_000017.10:g.18930783GC[10], NC_000017.10:g.18930783GC[11]

Select item 14911657903.

rs1491165790 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AC [Show Flanks]
Chromosome:: 17:19027472 (GRCh38)
17:18930786 (GRCh37)
Canonical SPDI:: NC_000017.11:19027472:C:CAC
Gene:: GRAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CAC=0./0 (ALFA)
HGVS:: NC_000017.11:g.19027473_19027474insAC, NC_000017.10:g.18930786_18930787insAC

Select item 14911580084.

rs1491158008 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 17:19027469 (GRCh38)
17:18930782 (GRCh37)
Canonical SPDI:: NC_000017.11:19027468:TG:
Gene:: GRAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00002/2 (GnomAD)
HGVS:: NC_000017.11:g.19027469_19027470del, NC_000017.10:g.18930782_18930783del

Select item 14909643675.

rs1490964367 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:19031576 (GRCh38)
17:18934889 (GRCh37)
Canonical SPDI:: NC_000017.11:19031575:T:G
Gene:: GRAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000084/1 (ALFA)
G=0.000016/2 (GnomAD)
HGVS:: NC_000017.11:g.19031576T>G, NC_000017.10:g.18934889T>G

Select item 14908262226.

rs1490826222 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:19020470 (GRCh38)
17:18923783 (GRCh37)
Canonical SPDI:: NC_000017.11:19020469:C:T
Gene:: GRAP (Varview), SLC5A10 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.19020470C>T, NC_000017.10:g.18923783C>T, NM_152351.6:c.*39C>T, NM_152351.5:c.*39C>T, NM_152351.4:c.*39C>T, NM_001042450.4:c.*39C>T, NM_001042450.3:c.*39C>T, NM_001042450.2:c.*39C>T, XM_017024191.3:c.*39C>T, XM_017024191.2:c.*39C>T, XM_017024191.1:c.*39C>T, NM_001270648.3:c.*39C>T, NM_001270648.2:c.*39C>T, NM_001270648.1:c.*39C>T, NM_001270649.2:c.*39C>T, NM_001270649.1:c.*39C>T, NR_073067.1:n.1980C>T, NM_001282417.1:c.*39C>T

Select item 14908214047.

rs1490821404 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:19020801 (GRCh38)
17:18924114 (GRCh37)
Canonical SPDI:: NC_000017.11:19020800:G:C
Gene:: GRAP (Varview), SLC5A10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.19020801G>C, NC_000017.10:g.18924114G>C, NM_152351.6:c.*370G>C, NM_152351.5:c.*370G>C, NM_001042450.4:c.*370G>C, NM_001042450.3:c.*370G>C, NM_006613.4:c.*1158C>G, NM_006613.3:c.*1158C>G, XM_017024191.3:c.*370G>C, NM_001270648.3:c.*370G>C, NM_001270648.2:c.*370G>C, NM_001270649.2:c.*370G>C, NM_001330148.2:c.*1025C>G, NM_001330148.1:c.*1025C>G, XM_047435154.1:c.*1158C>G, XM_047435155.1:c.*1025C>G

Select item 14907885488.

rs1490788548 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:19030158 (GRCh38)
17:18933471 (GRCh37)
Canonical SPDI:: NC_000017.11:19030157:C:A,NC_000017.11:19030157:C:T
Gene:: GRAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000017.11:g.19030158C>A, NC_000017.11:g.19030158C>T, NC_000017.10:g.18933471C>A, NC_000017.10:g.18933471C>T

Select item 14907519839.

rs1490751983 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:19050836 (GRCh38)
17:18954149 (GRCh37)
Canonical SPDI:: NC_000017.11:19050835:T:C
Gene:: GRAP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00164/3 (Korea1K)
HGVS:: NC_000017.11:g.19050836T>C, NC_000017.10:g.18954149T>C

Select item 149073685510.

rs1490736855 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:19049605 (GRCh38)
17:18952919 (GRCh37)
Canonical SPDI:: NC_000017.11:19049605:C:CC
Gene:: GRAP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.19049606dup, NC_000017.10:g.18952919dup

Select item 149066676311.

rs1490666763 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:19024798 (GRCh38)
17:18928111 (GRCh37)
Canonical SPDI:: NC_000017.11:19024797:C:T
Gene:: GRAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000224/1 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.19024798C>T, NC_000017.10:g.18928111C>T

Select item 149062136112.

rs1490621361 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TA [Show Flanks]
Chromosome:: 17:19027509 (GRCh38)
17:18930823 (GRCh37)
Canonical SPDI:: NC_000017.11:19027509:A:ATA
Gene:: GRAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
AT=0.000168/23 (GnomAD)
AT=0.000937/6 (1000Genomes)
HGVS:: NC_000017.11:g.19027510_19027511insTA, NC_000017.10:g.18930823_18930824insTA

Select item 149047662713.

rs1490476627 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:19031915 (GRCh38)
17:18935228 (GRCh37)
Canonical SPDI:: NC_000017.11:19031914:C:T
Gene:: GRAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.19031915C>T, NC_000017.10:g.18935228C>T

Select item 149026170014.

rs1490261700 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:19051414 (GRCh38)
17:18954727 (GRCh37)
Canonical SPDI:: NC_000017.11:19051413:G:A
Gene:: GRAP (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
HGVS:: NC_000017.11:g.19051414G>A, NC_000017.10:g.18954727G>A

Select item 148998523215.

rs1489985232 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 17:19032310 (GRCh38)
17:18935623 (GRCh37)
Canonical SPDI:: NC_000017.11:19032309:AA:A
Gene:: GRAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.19032311del, NC_000017.10:g.18935624del

Select item 148995678616.

rs1489956786 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:19041006 (GRCh38)
17:18944319 (GRCh37)
Canonical SPDI:: NC_000017.11:19041005:C:T
Gene:: GRAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.19041006C>T, NC_000017.10:g.18944319C>T

Select item 148980621017.

rs1489806210 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 17:19025617 (GRCh38)
17:18928931 (GRCh37)
Canonical SPDI:: NC_000017.11:19025617:T:TCT
Gene:: GRAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0./0 (ALFA)
TC=0.00062/4 (1000Genomes)
HGVS:: NC_000017.11:g.19025618_19025619insCT, NC_000017.10:g.18928931_18928932insCT

Select item 148970673918.

rs1489706739 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:19023777 (GRCh38)
17:18927090 (GRCh37)
Canonical SPDI:: NC_000017.11:19023776:C:T
Gene:: GRAP (Varview)
Functional Consequence:: genic_downstream_transcript_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_000017.11:g.19023777C>T, NC_000017.10:g.18927090C>T

Select item 148970648819.

rs1489706488 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 17:19041147 (GRCh38)
17:18944460 (GRCh37)
Canonical SPDI:: NC_000017.11:19041146:G:C,NC_000017.11:19041146:G:T
Gene:: GRAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
T=0.000036/1 (TOMMO)
HGVS:: NC_000017.11:g.19041147G>C, NC_000017.11:g.19041147G>T, NC_000017.10:g.18944460G>C, NC_000017.10:g.18944460G>T

Select item 148965255120.

rs1489652551 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:19032323 (GRCh38)
17:18935636 (GRCh37)
Canonical SPDI:: NC_000017.11:19032322:T:G
Gene:: GRAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.19032323T>G, NC_000017.10:g.18935636T>G

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