SNP Links for Gene (Select 728361) - SNP

Links from Gene

Items: 1 to 20 of 1469

<< First< Prev

Page of 74

Next >Last >>

Select item 14913679261.

rs1491367926 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 19:36114120 (GRCh38)
19:36605022 (GRCh37)
Canonical SPDI:: NC_000019.10:36114119:TC:
Gene:: TBCB (Varview), POLR2I (Varview), OVOL3 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.36114120_36114121del, NC_000019.9:g.36605022_36605023del

Select item 14913220892.

rs1491322089 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:36114120 (GRCh38)
19:36605023 (GRCh37)
Canonical SPDI:: NC_000019.10:36114120:C:CC
Gene:: TBCB (Varview), POLR2I (Varview), OVOL3 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.36114121dup, NC_000019.9:g.36605023dup

Select item 14905844433.

rs1490584443 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:36109613 (GRCh38)
19:36600515 (GRCh37)
Canonical SPDI:: NC_000019.10:36109612:A:G
Gene:: WDR62 (Varview), OVOL3 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.36109613A>G, NC_000019.9:g.36600515A>G

Select item 14903098304.

rs1490309830 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:36113925 (GRCh38)
19:36604827 (GRCh37)
Canonical SPDI:: NC_000019.10:36113924:A:C
Gene:: TBCB (Varview), POLR2I (Varview), OVOL3 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.36113925A>C, NC_000019.9:g.36604827A>C

Select item 14902854435.

rs1490285443 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:36111601 (GRCh38)
19:36602503 (GRCh37)
Canonical SPDI:: NC_000019.10:36111600:A:G
Gene:: WDR62 (Varview), OVOL3 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000016/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.36111601A>G, NC_000019.9:g.36602503A>G

Select item 14900941836.

rs1490094183 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:36110017 (GRCh38)
19:36600919 (GRCh37)
Canonical SPDI:: NC_000019.10:36110016:T:C
Gene:: WDR62 (Varview), OVOL3 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
C=0.000071/1 (TOMMO)
HGVS:: NC_000019.10:g.36110017T>C, NC_000019.9:g.36600919T>C

Select item 14900549987.

rs1490054998 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 19:36111907 (GRCh38)
19:36602809 (GRCh37)
Canonical SPDI:: NC_000019.10:36111906:GGGG:GGG
Gene:: OVOL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0.000142/2 (ALFA)
-=0.000064/9 (GnomAD)
-=0.000072/19 (TOPMED)
-=0.000312/2 (1000Genomes)
HGVS:: NC_000019.10:g.36111910del, NC_000019.9:g.36602812del

Select item 14891863968.

rs1489186396 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:36112799 (GRCh38)
19:36603701 (GRCh37)
Canonical SPDI:: NC_000019.10:36112798:C:T
Gene:: OVOL3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.36112799C>T, NC_000019.9:g.36603701C>T, NM_001302757.2:c.199C>T, NM_001302757.1:c.199C>T, XM_017027191.2:c.196C>T, XM_017027191.1:c.196C>T, NM_001270948.1:c.271C>T, NP_001289686.1:p.Pro67Ser, XP_016882680.1:p.Pro66Ser

Select item 14888783639.

rs1488878363 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTAT [Show Flanks]
Chromosome:: 19:36111925 (GRCh38)
19:36602828 (GRCh37)
Canonical SPDI:: NC_000019.10:36111925::TTAT
Gene:: OVOL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTAT=0./0 (ALFA)
TTAT=0.000015/4 (TOPMED)
TTAT=0.00005/7 (GnomAD)
HGVS:: NC_000019.10:g.36111925_36111926insTTAT, NC_000019.9:g.36602827_36602828insTTAT

Select item 148865203910.

rs1488652039 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 19:36110490 (GRCh38)
19:36601392 (GRCh37)
Canonical SPDI:: NC_000019.10:36110489:A:
Gene:: WDR62 (Varview), OVOL3 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.36110490del, NC_000019.9:g.36601392del

Select item 148839686811.

rs1488396868 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:36109897 (GRCh38)
19:36600799 (GRCh37)
Canonical SPDI:: NC_000019.10:36109896:C:A
Gene:: WDR62 (Varview), OVOL3 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.36109897C>A, NC_000019.9:g.36600799C>A

Select item 148744613012.

rs1487446130 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:36111239 (GRCh38)
19:36602141 (GRCh37)
Canonical SPDI:: NC_000019.10:36111238:C:T
Gene:: WDR62 (Varview), OVOL3 (Varview)
Functional Consequence:: stop_gained,downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.36111239C>T, NC_000019.9:g.36602141C>T, NM_001302757.2:c.37C>T, NM_001302757.1:c.37C>T, XM_017027191.2:c.37C>T, XM_017027191.1:c.37C>T, NM_001270948.1:c.37C>T, NP_001289686.1:p.Gln13Ter, XP_016882680.1:p.Gln13Ter

Select item 148681674913.

rs1486816749 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:36114095 (GRCh38)
19:36604997 (GRCh37)
Canonical SPDI:: NC_000019.10:36114094:G:A,NC_000019.10:36114094:G:C
Gene:: TBCB (Varview), POLR2I (Varview), OVOL3 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.00006/1 (TOMMO)
HGVS:: NC_000019.10:g.36114095G>A, NC_000019.10:g.36114095G>C, NC_000019.9:g.36604997G>A, NC_000019.9:g.36604997G>C

Select item 148617557514.

rs1486175575 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:36112520 (GRCh38)
19:36603422 (GRCh37)
Canonical SPDI:: NC_000019.10:36112519:T:A
Gene:: OVOL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
A=0.06913/202 (KOREAN)
HGVS:: NC_000019.10:g.36112520T>A, NC_000019.9:g.36603422T>A

Select item 148549082615.

rs1485490826 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:36112027 (GRCh38)
19:36602929 (GRCh37)
Canonical SPDI:: NC_000019.10:36112026:C:A,NC_000019.10:36112026:C:T
Gene:: OVOL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.36112027C>A, NC_000019.10:g.36112027C>T, NC_000019.9:g.36602929C>A, NC_000019.9:g.36602929C>T

Select item 148507777716.

rs1485077777 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:36111773 (GRCh38)
19:36602675 (GRCh37)
Canonical SPDI:: NC_000019.10:36111772:T:C
Gene:: OVOL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.36111773T>C, NC_000019.9:g.36602675T>C

Select item 148447369817.

rs1484473698 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:36112206 (GRCh38)
19:36603108 (GRCh37)
Canonical SPDI:: NC_000019.10:36112205:C:G
Gene:: OVOL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.36112206C>G, NC_000019.9:g.36603108C>G

Select item 148353783218.

rs1483537832 [Homo sapiens]

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

Select item 148325496619.

rs1483254966 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:36112787 (GRCh38)
19:36603689 (GRCh37)
Canonical SPDI:: NC_000019.10:36112786:G:A
Gene:: OVOL3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/2 (GnomAD_exomes)
A=0.00003/8 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000019.10:g.36112787G>A, NC_000019.9:g.36603689G>A, NM_001302757.2:c.187G>A, NM_001302757.1:c.187G>A, XM_017027191.2:c.184G>A, XM_017027191.1:c.184G>A, NM_001270948.1:c.259G>A, NP_001289686.1:p.Ala63Thr, XP_016882680.1:p.Ala62Thr

Select item 148256194920.

rs1482561949 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:36113713 (GRCh38)
19:36604615 (GRCh37)
Canonical SPDI:: NC_000019.10:36113712:G:T
Gene:: TBCB (Varview), POLR2I (Varview), OVOL3 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant
HGVS:: NC_000019.10:g.36113713G>T, NC_000019.9:g.36604615G>T, NM_006233.5:c.*42C>A, NM_006233.4:c.*42C>A

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 1469

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity