SNP Links for Gene (Select 28974) - SNP

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Select item 14913438881.

rs1491343888 has merged into rs59239281 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
Chromosome:: 19:13773644 (GRCh38)
19:13884458 (GRCh37)
Canonical SPDI:: NC_000019.10:13773631:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:13773631:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:13773631:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:13773631:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:13773631:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: C19orf53 (Varview), MRI1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
A=0.01429/8 (NorthernSweden)
-=0.05/2 (GENOME_DK)
HGVS:: NC_000019.10:g.13773644_13773646del, NC_000019.10:g.13773645_13773646del, NC_000019.10:g.13773646del, NC_000019.10:g.13773646dup, NC_000019.10:g.13773645_13773646dup, NC_000019.9:g.13884458_13884460del, NC_000019.9:g.13884459_13884460del, NC_000019.9:g.13884460del, NC_000019.9:g.13884460dup, NC_000019.9:g.13884459_13884460dup, NG_051243.1:g.14153_14155del, NG_051243.1:g.14154_14155del, NG_051243.1:g.14155del, NG_051243.1:g.14155dup, NG_051243.1:g.14154_14155dup, NM_001031727.4:c.*1363_*1365del, NM_001031727.4:c.*1364_*1365del, NM_001031727.4:c.*1365del, NM_001031727.4:c.*1365dup, NM_001031727.4:c.*1364_*1365dup, NM_001031727.3:c.*1363_*1365del, NM_001031727.3:c.*1364_*1365del, NM_001031727.3:c.*1365del, NM_001031727.3:c.*1365dup, NM_001031727.3:c.*1364_*1365dup, NM_001031727.2:c.*1363_*1365del, NM_001031727.2:c.*1364_*1365del, NM_001031727.2:c.*1365del, NM_001031727.2:c.*1365dup, NM_001031727.2:c.*1364_*1365dup, NM_032285.4:c.*1363_*1365del, NM_032285.4:c.*1364_*1365del, NM_032285.4:c.*1365del, NM_032285.4:c.*1365dup, NM_032285.4:c.*1364_*1365dup, NM_032285.3:c.*1363_*1365del, NM_032285.3:c.*1364_*1365del, NM_032285.3:c.*1365del, NM_032285.3:c.*1365dup, NM_032285.3:c.*1364_*1365dup, NM_032285.2:c.*1363_*1365del, NM_032285.2:c.*1364_*1365del, NM_032285.2:c.*1365del, NM_032285.2:c.*1365dup, NM_032285.2:c.*1364_*1365dup, NR_138051.2:n.2565_2567del, NR_138051.2:n.2566_2567del, NR_138051.2:n.2567del, NR_138051.2:n.2567dup, NR_138051.2:n.2566_2567dup, NR_138051.1:n.2573_2575del, NR_138051.1:n.2574_2575del, NR_138051.1:n.2575del, NR_138051.1:n.2575dup, NR_138051.1:n.2574_2575dup, NM_001329572.2:c.*1363_*1365del, NM_001329572.2:c.*1364_*1365del, NM_001329572.2:c.*1365del, NM_001329572.2:c.*1365dup, NM_001329572.2:c.*1364_*1365dup, NM_001329572.1:c.*1363_*1365del, NM_001329572.1:c.*1364_*1365del, NM_001329572.1:c.*1365del, NM_001329572.1:c.*1365dup, NM_001329572.1:c.*1364_*1365dup, XM_047439509.1:c.*1363_*1365del, XM_047439509.1:c.*1364_*1365del, XM_047439509.1:c.*1365del, XM_047439509.1:c.*1365dup, XM_047439509.1:c.*1364_*1365dup

Select item 14906779462.

rs1490677946 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:13773376 (GRCh38)
19:13884191 (GRCh37)
Canonical SPDI:: NC_000019.10:13773376:T:TT
Gene:: C19orf53 (Varview), MRI1 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.13773377dup, NC_000019.9:g.13884191dup, NG_051243.1:g.13886dup, NM_001031727.4:c.*1096dup, NM_001031727.3:c.*1096dup, NM_001031727.2:c.*1096dup, NM_032285.4:c.*1096dup, NM_032285.3:c.*1096dup, NM_032285.2:c.*1096dup, NR_138051.2:n.2298dup, NR_138051.1:n.2306dup, NM_001329572.2:c.*1096dup, NM_001329572.1:c.*1096dup, XM_047439509.1:c.*1096dup

Select item 14894969353.

rs1489496935 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:13777615 (GRCh38)
19:13888429 (GRCh37)
Canonical SPDI:: NC_000019.10:13777614:G:A
Gene:: C19orf53 (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)
A=0.000342/1 (KOREAN)
HGVS:: NC_000019.10:g.13777615G>A, NC_000019.9:g.13888429G>A

Select item 14879672944.

rs1487967294 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:13772957 (GRCh38)
19:13883771 (GRCh37)
Canonical SPDI:: NC_000019.10:13772956:C:T
Gene:: C19orf53 (Varview), MRI1 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.13772957C>T, NC_000019.9:g.13883771C>T, NG_051243.1:g.13466C>T, NM_001031727.4:c.*676C>T, NM_001031727.3:c.*676C>T, NM_001031727.2:c.*676C>T, NM_032285.4:c.*676C>T, NM_032285.3:c.*676C>T, NM_032285.2:c.*676C>T, NR_138051.2:n.1878C>T, NR_138051.1:n.1886C>T, NM_001329572.2:c.*676C>T, NM_001329572.1:c.*676C>T, XM_047439509.1:c.*676C>T

Select item 14874023515.

rs1487402351 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:13774587 (GRCh38)
19:13885401 (GRCh37)
Canonical SPDI:: NC_000019.10:13774586:C:T
Gene:: C19orf53 (Varview), MRI1 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.13774587C>T, NC_000019.9:g.13885401C>T, NG_051243.1:g.15096C>T

Select item 14866440926.

rs1486644092 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:13773531 (GRCh38)
19:13884345 (GRCh37)
Canonical SPDI:: NC_000019.10:13773530:A:T
Gene:: C19orf53 (Varview), MRI1 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.13773531A>T, NC_000019.9:g.13884345A>T, NG_051243.1:g.14040A>T, NM_001031727.4:c.*1250A>T, NM_001031727.3:c.*1250A>T, NM_001031727.2:c.*1250A>T, NM_032285.4:c.*1250A>T, NM_032285.3:c.*1250A>T, NM_032285.2:c.*1250A>T, NR_138051.2:n.2452A>T, NR_138051.1:n.2460A>T, NM_001329572.2:c.*1250A>T, NM_001329572.1:c.*1250A>T, XM_047439509.1:c.*1250A>T

Select item 14862755547.

rs1486275554 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:13775906 (GRCh38)
19:13886720 (GRCh37)
Canonical SPDI:: NC_000019.10:13775905:A:G
Gene:: C19orf53 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.13775906A>G, NC_000019.9:g.13886720A>G, NG_051243.1:g.16415A>G

Select item 14856570498.

rs1485657049 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:13777393 (GRCh38)
19:13888207 (GRCh37)
Canonical SPDI:: NC_000019.10:13777392:A:T
Gene:: C19orf53 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.13777393A>T, NC_000019.9:g.13888207A>T

Select item 14853992359.

rs1485399235 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 19:13776093 (GRCh38)
19:13886907 (GRCh37)
Canonical SPDI:: NC_000019.10:13776092:G:A,NC_000019.10:13776092:G:C,NC_000019.10:13776092:G:T
Gene:: C19orf53 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00006/16 (TOPMED)
A=0.000468/3 (1000Genomes)
HGVS:: NC_000019.10:g.13776093G>A, NC_000019.10:g.13776093G>C, NC_000019.10:g.13776093G>T, NC_000019.9:g.13886907G>A, NC_000019.9:g.13886907G>C, NC_000019.9:g.13886907G>T, NG_051243.1:g.16602G>A, NG_051243.1:g.16602G>C, NG_051243.1:g.16602G>T

Select item 148494444410.

rs1484944444 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:13776523 (GRCh38)
19:13887337 (GRCh37)
Canonical SPDI:: NC_000019.10:13776522:C:G
Gene:: C19orf53 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.13776523C>G, NC_000019.9:g.13887337C>G

Select item 148462481811.

rs1484624818 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:13773575 (GRCh38)
19:13884389 (GRCh37)
Canonical SPDI:: NC_000019.10:13773574:G:A,NC_000019.10:13773574:G:C
Gene:: C19orf53 (Varview), MRI1 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00013/2 (ALFA)
C=0.00045/2 (Estonian)
HGVS:: NC_000019.10:g.13773575G>A, NC_000019.10:g.13773575G>C, NC_000019.9:g.13884389G>A, NC_000019.9:g.13884389G>C, NG_051243.1:g.14084G>A, NG_051243.1:g.14084G>C, NM_001031727.4:c.*1294G>A, NM_001031727.4:c.*1294G>C, NM_001031727.3:c.*1294G>A, NM_001031727.3:c.*1294G>C, NM_001031727.2:c.*1294G>A, NM_001031727.2:c.*1294G>C, NM_032285.4:c.*1294G>A, NM_032285.4:c.*1294G>C, NM_032285.3:c.*1294G>A, NM_032285.3:c.*1294G>C, NM_032285.2:c.*1294G>A, NM_032285.2:c.*1294G>C, NR_138051.2:n.2496G>A, NR_138051.2:n.2496G>C, NR_138051.1:n.2504G>A, NR_138051.1:n.2504G>C, NM_001329572.2:c.*1294G>A, NM_001329572.2:c.*1294G>C, NM_001329572.1:c.*1294G>A, NM_001329572.1:c.*1294G>C, XM_047439509.1:c.*1294G>A, XM_047439509.1:c.*1294G>C

Select item 148429755712.

rs1484297557 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:13778160 (GRCh38)
19:13888974 (GRCh37)
Canonical SPDI:: NC_000019.10:13778159:G:A
Gene:: C19orf53 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.13778160G>A, NC_000019.9:g.13888974G>A, NM_014047.3:c.262G>A, NM_014047.2:c.262G>A, NP_054766.1:p.Gly88Arg

Select item 148399349113.

rs1483993491 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:13777262 (GRCh38)
19:13888076 (GRCh37)
Canonical SPDI:: NC_000019.10:13777261:C:T
Gene:: C19orf53 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00055/9 (ALFA)
T=0.00201/9 (Estonian)
HGVS:: NC_000019.10:g.13777262C>T, NC_000019.9:g.13888076C>T

Select item 148399020814.

rs1483990208 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:13777415 (GRCh38)
19:13888229 (GRCh37)
Canonical SPDI:: NC_000019.10:13777414:G:A
Gene:: C19orf53 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.13777415G>A, NC_000019.9:g.13888229G>A

Select item 148332777015.

rs1483327770 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:13774823 (GRCh38)
19:13885637 (GRCh37)
Canonical SPDI:: NC_000019.10:13774822:C:A,NC_000019.10:13774822:C:T
Gene:: C19orf53 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.13774823C>A, NC_000019.10:g.13774823C>T, NC_000019.9:g.13885637C>A, NC_000019.9:g.13885637C>T, NG_051243.1:g.15332C>A, NG_051243.1:g.15332C>T

Select item 148320533716.

rs1483205337 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:13776629 (GRCh38)
19:13887443 (GRCh37)
Canonical SPDI:: NC_000019.10:13776628:C:T
Gene:: C19orf53 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.13776629C>T, NC_000019.9:g.13887443C>T

Select item 148315529717.

rs1483155297 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:13779023 (GRCh38)
19:13889837 (GRCh37)
Canonical SPDI:: NC_000019.10:13779022:T:C,NC_000019.10:13779022:T:G
Gene:: C19orf53 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.00007/1 (ALFA)
HGVS:: NC_000019.10:g.13779023T>C, NC_000019.10:g.13779023T>G, NC_000019.9:g.13889837T>C, NC_000019.9:g.13889837T>G

Select item 148297402118.

rs1482974021 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:13775799 (GRCh38)
19:13886613 (GRCh37)
Canonical SPDI:: NC_000019.10:13775798:G:A
Gene:: C19orf53 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000546/1 (Korea1K)
HGVS:: NC_000019.10:g.13775799G>A, NC_000019.9:g.13886613G>A, NG_051243.1:g.16308G>A

Select item 148277293219.

rs1482772932 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:13773499 (GRCh38)
19:13884313 (GRCh37)
Canonical SPDI:: NC_000019.10:13773498:A:T
Gene:: C19orf53 (Varview), MRI1 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.13773499A>T, NC_000019.9:g.13884313A>T, NG_051243.1:g.14008A>T, NM_001031727.4:c.*1218A>T, NM_001031727.3:c.*1218A>T, NM_001031727.2:c.*1218A>T, NM_032285.4:c.*1218A>T, NM_032285.3:c.*1218A>T, NM_032285.2:c.*1218A>T, NR_138051.2:n.2420A>T, NR_138051.1:n.2428A>T, NM_001329572.2:c.*1218A>T, NM_001329572.1:c.*1218A>T, XM_047439509.1:c.*1218A>T

Select item 148119215420.

rs1481192154 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:13775477 (GRCh38)
19:13886291 (GRCh37)
Canonical SPDI:: NC_000019.10:13775476:G:T
Gene:: C19orf53 (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)
HGVS:: NC_000019.10:g.13775477G>T, NC_000019.9:g.13886291G>T, NG_051243.1:g.15986G>T

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