SNP Links for Gene (Select 100506033) - SNP

Links from Gene

Items: 1 to 20 of 4031

<< First< Prev

Page of 202

Next >Last >>

Select item 14912901561.

rs1491290156 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:49853286 (GRCh38)
19:50356544 (GRCh37)
Canonical SPDI:: NC_000019.10:49853286::G
Gene:: PTOV1 (Varview), PTOV1-AS1 (Varview), MIR4749 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.49853286_49853287insG, NC_000019.9:g.50356543_50356544insG, NG_050666.1:g.9443_9444insG

Select item 14912582232.

rs1491258223 has merged into rs1348755283 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACGGGG>-,ACGGGGACGGGG [Show Flanks]
Chromosome:: 19:49851719 (GRCh38)
19:50354976 (GRCh37)
Canonical SPDI:: NC_000019.10:49851714:GGGGACGGGG:GGGG,NC_000019.10:49851714:GGGGACGGGG:GGGGACGGGGACGGGG
Gene:: PTOV1 (Varview), PTOV1-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGACGGGGACGGGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
GGGGAC=0.000036/5 (GnomAD)
GGGGAC=0.000312/2 (1000Genomes)
HGVS:: NC_000019.10:g.49851719_49851724del, NC_000019.10:g.49851719_49851724dup, NC_000019.9:g.50354976_50354981del, NC_000019.9:g.50354976_50354981dup, NG_050666.1:g.7876_7881del, NG_050666.1:g.7876_7881dup

Select item 14912164733.

rs1491216473 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>- [Show Flanks]
Chromosome:: 19:49851717 (GRCh38)
19:50354974 (GRCh37)
Canonical SPDI:: NC_000019.10:49851713:GGGGG:GGG
Gene:: PTOV1 (Varview), PTOV1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0.000142/2 (ALFA)
-=0.000064/17 (TOPMED)
-=0.00008/10 (GnomAD)
HGVS:: NC_000019.10:g.49851717_49851718del, NC_000019.9:g.50354974_50354975del, NG_050666.1:g.7874_7875del

Select item 14911220914.

rs1491122091 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 19:49853289 (GRCh38)
19:50356546 (GRCh37)
Canonical SPDI:: NC_000019.10:49853285:CTCTC:CTC
Gene:: PTOV1 (Varview), PTOV1-AS1 (Varview), MIR4749 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTC=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000022/3 (GnomAD)
HGVS:: NC_000019.10:g.49853287TC[1], NC_000019.9:g.50356544TC[1], NG_050666.1:g.9444TC[1]

Select item 14909230715.

rs1490923071 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49840710 (GRCh38)
19:50343967 (GRCh37)
Canonical SPDI:: NC_000019.10:49840709:C:T
Gene:: MED25 (Varview), PTOV1-AS1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_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.49840710C>T, NC_000019.9:g.50343967C>T

Select item 14908970606.

rs1490897060 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:49841608 (GRCh38)
19:50344865 (GRCh37)
Canonical SPDI:: NC_000019.10:49841607:T:C
Gene:: PTOV1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.49841608T>C, NC_000019.9:g.50344865T>C

Select item 14905467007.

rs1490546700 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:49847571 (GRCh38)
19:50350828 (GRCh37)
Canonical SPDI:: NC_000019.10:49847570:T:C
Gene:: PTOV1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.49847571T>C, NC_000019.9:g.50350828T>C, NG_050666.1:g.3728T>C

Select item 14904692138.

rs1490469213 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49848980 (GRCh38)
19:50352237 (GRCh37)
Canonical SPDI:: NC_000019.10:49848979:G:A
Gene:: PTOV1 (Varview), PTOV1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.49848980G>A, NC_000019.9:g.50352237G>A, NG_050666.1:g.5137G>A

Select item 14904107679.

rs1490410767 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:49841184 (GRCh38)
19:50344441 (GRCh37)
Canonical SPDI:: NC_000019.10:49841183:C:A
Gene:: PTOV1-AS1 (Varview)
Functional Consequence:: intron_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_000019.10:g.49841184C>A, NC_000019.9:g.50344441C>A

Select item 149008093110.

rs1490080931 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 19:49841959 (GRCh38)
19:50345216 (GRCh37)
Canonical SPDI:: NC_000019.10:49841958:CCC:CC
Gene:: PTOV1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.49841961del, NC_000019.9:g.50345218del

Select item 149007063511.

rs1490070635 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:49852267 (GRCh38)
19:50355524 (GRCh37)
Canonical SPDI:: NC_000019.10:49852266:G:A,NC_000019.10:49852266:G:C
Gene:: PTOV1 (Varview), PTOV1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000106/2 (ALFA)
A=0.000042/11 (TOPMED)
A=0.000378/53 (GnomAD)
A=0.000446/2 (Estonian)
A=0.001667/1 (NorthernSweden)
HGVS:: NC_000019.10:g.49852267G>A, NC_000019.10:g.49852267G>C, NC_000019.9:g.50355524G>A, NC_000019.9:g.50355524G>C, NG_050666.1:g.8424G>A, NG_050666.1:g.8424G>C

Select item 148973832912.

rs1489738329 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:49839873 (GRCh38)
19:50343130 (GRCh37)
Canonical SPDI:: NC_000019.10:49839872:T:C
Gene:: MED25 (Varview), PTOV1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.49839873T>C, NC_000019.9:g.50343130T>C, NM_001378355.1:c.*1049T>C, NR_040037.1:n.921A>G

Select item 148966179113.

rs1489661791 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:49848025 (GRCh38)
19:50351282 (GRCh37)
Canonical SPDI:: NC_000019.10:49848024:G:C
Gene:: PTOV1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.49848025G>C, NC_000019.9:g.50351282G>C, NG_050666.1:g.4182G>C

Select item 148935000914.

rs1489350009 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49839428 (GRCh38)
19:50342685 (GRCh37)
Canonical SPDI:: NC_000019.10:49839427:G:A
Gene:: MED25 (Varview), PTOV1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000139/2 (ALFA)
A=0.00005/7 (GnomAD)
A=0.000064/17 (TOPMED)
A=0.000106/3 (TOMMO)
HGVS:: NC_000019.10:g.49839428G>A, NC_000019.9:g.50342685G>A, NM_001378355.1:c.*604G>A, NR_040037.1:n.1366C>T

Select item 148921019615.

rs1489210196 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49838961 (GRCh38)
19:50342218 (GRCh37)
Canonical SPDI:: NC_000019.10:49838960:G:A
Gene:: MED25 (Varview), PTOV1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.49838961G>A, NC_000019.9:g.50342218G>A, NG_017091.1:g.25683G>A, NM_001378355.1:c.*137G>A, NR_040037.1:n.1833C>T

Select item 148913484316.

rs1489134843 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 19:49845810 (GRCh38)
19:50349067 (GRCh37)
Canonical SPDI:: NC_000019.10:49845809:A:G,NC_000019.10:49845809:A:T
Gene:: PTOV1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.49845810A>G, NC_000019.10:g.49845810A>T, NC_000019.9:g.50349067A>G, NC_000019.9:g.50349067A>T, NG_050666.1:g.1967A>G, NG_050666.1:g.1967A>T

Select item 148888946917.

rs1488889469 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGAAACC>- [Show Flanks]
Chromosome:: 19:49845585 (GRCh38)
19:50348842 (GRCh37)
Canonical SPDI:: NC_000019.10:49845583:CGAGAAACC:C
Gene:: PTOV1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.49845585_49845592del, NC_000019.9:g.50348842_50348849del, NG_050666.1:g.1742_1749del

Select item 148876546018.

rs1488765460 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:49843388 (GRCh38)
19:50346645 (GRCh37)
Canonical SPDI:: NC_000019.10:49843387:T:C
Gene:: PTOV1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.49843388T>C, NC_000019.9:g.50346645T>C

Select item 148874937619.

rs1488749376 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49846546 (GRCh38)
19:50349803 (GRCh37)
Canonical SPDI:: NC_000019.10:49846545:G:A
Gene:: PTOV1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.49846546G>A, NC_000019.9:g.50349803G>A, NG_050666.1:g.2703G>A

Select item 148873430420.

rs1488734304 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49842400 (GRCh38)
19:50345657 (GRCh37)
Canonical SPDI:: NC_000019.10:49842399:C:T
Gene:: PTOV1-AS1 (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.49842400C>T, NC_000019.9:g.50345657C>T

<< First< Prev

Page of 202

Next >Last >>

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 4031

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity