SNP Links for Gene (Select 5360) - SNP

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Select item 14915880941.

rs1491588094 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 20:45903845 (GRCh38)
20:44532484 (GRCh37)
Canonical SPDI:: NC_000020.11:45903844:GA:
Gene:: PLTP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.45903845_45903846del, NC_000020.10:g.44532484_44532485del, NG_012115.2:g.13302_13303del

Select item 14912921892.

rs1491292189 has merged into rs201245712 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 20:45907343 (GRCh38)
20:44535982 (GRCh37)
Canonical SPDI:: NC_000020.11:45907332:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:45907332:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:45907332:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:45907332:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:45907332:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:45907332:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:45907332:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:45907332:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: PLTP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.3071/1538 (1000Genomes)
HGVS:: NC_000020.11:g.45907343_45907348del, NC_000020.11:g.45907344_45907348del, NC_000020.11:g.45907345_45907348del, NC_000020.11:g.45907346_45907348del, NC_000020.11:g.45907347_45907348del, NC_000020.11:g.45907348del, NC_000020.11:g.45907348dup, NC_000020.11:g.45907347_45907348dup, NC_000020.10:g.44535982_44535987del, NC_000020.10:g.44535983_44535987del, NC_000020.10:g.44535984_44535987del, NC_000020.10:g.44535985_44535987del, NC_000020.10:g.44535986_44535987del, NC_000020.10:g.44535987del, NC_000020.10:g.44535987dup, NC_000020.10:g.44535986_44535987dup, NG_012115.2:g.9810_9815del, NG_012115.2:g.9811_9815del, NG_012115.2:g.9812_9815del, NG_012115.2:g.9813_9815del, NG_012115.2:g.9814_9815del, NG_012115.2:g.9815del, NG_012115.2:g.9815dup, NG_012115.2:g.9814_9815dup

Select item 14911872843.

rs1491187284 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:45906890 (GRCh38)
20:44535529 (GRCh37)
Canonical SPDI:: NC_000020.11:45906889:CA:
Gene:: PLTP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000020.11:g.45906890_45906891del, NC_000020.10:g.44535529_44535530del, NG_012115.2:g.10257_10258del

Select item 14903989274.

rs1490398927 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:45904786 (GRCh38)
20:44533425 (GRCh37)
Canonical SPDI:: NC_000020.11:45904785:C:T
Gene:: PLTP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.45904786C>T, NC_000020.10:g.44533425C>T, NG_012115.2:g.12362G>A

Select item 14901630305.

rs1490163030 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GG [Show Flanks]
Chromosome:: 20:45912667 (GRCh38)
20:44541307 (GRCh37)
Canonical SPDI:: NC_000020.11:45912667:GGGG:GGGGGG
Gene:: PLTP (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: GGGGGG=0./0 (ALFA)
GG=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.45912670_45912671dup, NC_000020.10:g.44541309_44541310dup, NG_012115.2:g.4479_4480dup

Select item 14901356906.

rs1490135690 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 20:45910328 (GRCh38)
20:44538968 (GRCh37)
Canonical SPDI:: NC_000020.11:45910328:TTT:TTTT
Gene:: PLTP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.45910331dup, NC_000020.10:g.44538970dup, NG_012115.2:g.6819dup

Select item 14901053767.

rs1490105376 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:45913991 (GRCh38)
20:44542630 (GRCh37)
Canonical SPDI:: NC_000020.11:45913990:C:G,NC_000020.11:45913990:C:T
Gene:: PLTP (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000020.11:g.45913991C>G, NC_000020.11:g.45913991C>T, NC_000020.10:g.44542630C>G, NC_000020.10:g.44542630C>T, NG_012115.2:g.3157G>C, NG_012115.2:g.3157G>A

Select item 14900854548.

rs1490085454 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:45906408 (GRCh38)
20:44535047 (GRCh37)
Canonical SPDI:: NC_000020.11:45906407:G:T
Gene:: PLTP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.45906408G>T, NC_000020.10:g.44535047G>T, NG_012115.2:g.10740C>A

Select item 14897294889.

rs1489729488 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:45910022 (GRCh38)
20:44538661 (GRCh37)
Canonical SPDI:: NC_000020.11:45910021:C:G
Gene:: PLTP (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.45910022C>G, NC_000020.10:g.44538661C>G, NG_012115.2:g.7126G>C, NM_006227.4:c.249G>C, NM_006227.3:c.249G>C, NM_182676.3:c.249G>C, NM_182676.2:c.249G>C, NM_001242921.1:c.-16G>C, NP_006218.1:p.Gln83His, NP_872617.1:p.Gln83His

Select item 148965661810.

rs1489656618 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:45907687 (GRCh38)
20:44536326 (GRCh37)
Canonical SPDI:: NC_000020.11:45907686:C:A
Gene:: PLTP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.45907687C>A, NC_000020.10:g.44536326C>A, NG_012115.2:g.9461G>T

Select item 148961870411.

rs1489618704 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:45906638 (GRCh38)
20:44535277 (GRCh37)
Canonical SPDI:: NC_000020.11:45906637:C:G,NC_000020.11:45906637:C:T
Gene:: PLTP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000106/2 (TOMMO)
G=0.000684/2 (KOREAN)
G=0.001092/2 (Korea1K)
HGVS:: NC_000020.11:g.45906638C>G, NC_000020.11:g.45906638C>T, NC_000020.10:g.44535277C>G, NC_000020.10:g.44535277C>T, NG_012115.2:g.10510G>C, NG_012115.2:g.10510G>A

Select item 148936513212.

rs1489365132 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 20:45898884 (GRCh38)
20:44527523 (GRCh37)
Canonical SPDI:: NC_000020.11:45898883:A:C
Gene:: PLTP (Varview), CTSA (Varview)
Functional Consequence:: 500B_downstream_variant,3_prime_UTR_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.001027/3 (KOREAN)
HGVS:: NC_000020.11:g.45898884A>C, NC_000020.10:g.44527523A>C, NG_012115.2:g.18264T>G, NM_006227.4:c.*57T>G, NM_006227.3:c.*57T>G, NM_182676.3:c.*57T>G, NM_182676.2:c.*57T>G, NM_001242920.2:c.*57T>G, NM_001242920.1:c.*57T>G, NM_001242921.1:c.*57T>G, NG_008291.1:g.12933A>C

Select item 148904953813.

rs1489049538 has merged into rs71181874 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:45900110 (GRCh38)
20:44528749 (GRCh37)
Canonical SPDI:: NC_000020.11:45900098:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:45900098:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:45900098:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:45900098:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:45900098:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:45900098:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:45900098:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:45900098:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:45900098:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:45900098:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:45900098:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:45900098:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:45900098:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:45900098:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:45900098:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:45900098:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:45900098:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:45900098:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:45900098:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:45900098:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:45900098:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:45900098:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:45900098:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:45900098:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:45900098:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:45900098:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PLTP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.000026/7 (TOPMED)
-=0.325/13 (GENOME_DK)
HGVS:: NC_000020.11:g.45900110_45900126del, NC_000020.11:g.45900111_45900126del, NC_000020.11:g.45900112_45900126del, NC_000020.11:g.45900113_45900126del, NC_000020.11:g.45900114_45900126del, NC_000020.11:g.45900115_45900126del, NC_000020.11:g.45900116_45900126del, NC_000020.11:g.45900117_45900126del, NC_000020.11:g.45900118_45900126del, NC_000020.11:g.45900119_45900126del, NC_000020.11:g.45900120_45900126del, NC_000020.11:g.45900121_45900126del, NC_000020.11:g.45900122_45900126del, NC_000020.11:g.45900123_45900126del, NC_000020.11:g.45900124_45900126del, NC_000020.11:g.45900125_45900126del, NC_000020.11:g.45900126del, NC_000020.11:g.45900126dup, NC_000020.11:g.45900125_45900126dup, NC_000020.11:g.45900124_45900126dup, NC_000020.11:g.45900123_45900126dup, NC_000020.11:g.45900122_45900126dup, NC_000020.11:g.45900121_45900126dup, NC_000020.11:g.45900120_45900126dup, NC_000020.11:g.45900118_45900126dup, NC_000020.11:g.45900117_45900126dup, NC_000020.10:g.44528749_44528765del, NC_000020.10:g.44528750_44528765del, NC_000020.10:g.44528751_44528765del, NC_000020.10:g.44528752_44528765del, NC_000020.10:g.44528753_44528765del, NC_000020.10:g.44528754_44528765del, NC_000020.10:g.44528755_44528765del, NC_000020.10:g.44528756_44528765del, NC_000020.10:g.44528757_44528765del, NC_000020.10:g.44528758_44528765del, NC_000020.10:g.44528759_44528765del, NC_000020.10:g.44528760_44528765del, NC_000020.10:g.44528761_44528765del, NC_000020.10:g.44528762_44528765del, NC_000020.10:g.44528763_44528765del, NC_000020.10:g.44528764_44528765del, NC_000020.10:g.44528765del, NC_000020.10:g.44528765dup, NC_000020.10:g.44528764_44528765dup, NC_000020.10:g.44528763_44528765dup, NC_000020.10:g.44528762_44528765dup, NC_000020.10:g.44528761_44528765dup, NC_000020.10:g.44528760_44528765dup, NC_000020.10:g.44528759_44528765dup, NC_000020.10:g.44528757_44528765dup, NC_000020.10:g.44528756_44528765dup, NG_012115.2:g.17033_17049del, NG_012115.2:g.17034_17049del, NG_012115.2:g.17035_17049del, NG_012115.2:g.17036_17049del, NG_012115.2:g.17037_17049del, NG_012115.2:g.17038_17049del, NG_012115.2:g.17039_17049del, NG_012115.2:g.17040_17049del, NG_012115.2:g.17041_17049del, NG_012115.2:g.17042_17049del, NG_012115.2:g.17043_17049del, NG_012115.2:g.17044_17049del, NG_012115.2:g.17045_17049del, NG_012115.2:g.17046_17049del, NG_012115.2:g.17047_17049del, NG_012115.2:g.17048_17049del, NG_012115.2:g.17049del, NG_012115.2:g.17049dup, NG_012115.2:g.17048_17049dup, NG_012115.2:g.17047_17049dup, NG_012115.2:g.17046_17049dup, NG_012115.2:g.17045_17049dup, NG_012115.2:g.17044_17049dup, NG_012115.2:g.17043_17049dup, NG_012115.2:g.17041_17049dup, NG_012115.2:g.17040_17049dup, NG_008291.1:g.14159_14175del, NG_008291.1:g.14160_14175del, NG_008291.1:g.14161_14175del, NG_008291.1:g.14162_14175del, NG_008291.1:g.14163_14175del, NG_008291.1:g.14164_14175del, NG_008291.1:g.14165_14175del, NG_008291.1:g.14166_14175del, NG_008291.1:g.14167_14175del, NG_008291.1:g.14168_14175del, NG_008291.1:g.14169_14175del, NG_008291.1:g.14170_14175del, NG_008291.1:g.14171_14175del, NG_008291.1:g.14172_14175del, NG_008291.1:g.14173_14175del, NG_008291.1:g.14174_14175del, NG_008291.1:g.14175del, NG_008291.1:g.14175dup, NG_008291.1:g.14174_14175dup, NG_008291.1:g.14173_14175dup, NG_008291.1:g.14172_14175dup, NG_008291.1:g.14171_14175dup, NG_008291.1:g.14170_14175dup, NG_008291.1:g.14169_14175dup, NG_008291.1:g.14167_14175dup, NG_008291.1:g.14166_14175dup

Select item 148880426014.

rs1488804260 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:45898395 (GRCh38)
20:44527034 (GRCh37)
Canonical SPDI:: NC_000020.11:45898394:A:G
Gene:: PLTP (Varview), CTSA (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,500B_downstream_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.45898395A>G, NC_000020.10:g.44527034A>G, NG_012115.2:g.18753T>C, NG_008291.1:g.12444A>G, NM_000308.4:c.1388A>G, NM_000308.3:c.1442A>G, NM_000308.2:c.1442A>G, NM_001127695.3:c.1388A>G, NM_001127695.2:c.1388A>G, NM_001127695.1:c.1388A>G, NM_001167594.3:c.1337A>G, NM_001167594.2:c.1391A>G, NM_001167594.1:c.1391A>G, NR_133656.2:n.1440A>G, NR_133656.1:n.2631A>G, NP_000299.3:p.Lys463Arg, NP_001121167.1:p.Lys463Arg, NP_001161066.2:p.Lys446Arg

Select item 148867865215.

rs1488678652 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:45907874 (GRCh38)
20:44536513 (GRCh37)
Canonical SPDI:: NC_000020.11:45907873:G:A
Gene:: PLTP (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.45907874G>A, NC_000020.10:g.44536513G>A, NG_012115.2:g.9274C>T, NM_006227.4:c.516C>T, NM_006227.3:c.516C>T, NM_182676.3:c.360C>T, NM_182676.2:c.360C>T, NM_001242920.2:c.231C>T, NM_001242920.1:c.231C>T, NM_001242921.1:c.252C>T

Select item 148847612116.

rs1488476121 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:45904149 (GRCh38)
20:44532788 (GRCh37)
Canonical SPDI:: NC_000020.11:45904148:T:G
Gene:: PLTP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.45904149T>G, NC_000020.10:g.44532788T>G, NG_012115.2:g.12999A>C

Select item 148841490217.

rs1488414902 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:45900339 (GRCh38)
20:44528978 (GRCh37)
Canonical SPDI:: NC_000020.11:45900338:T:C
Gene:: PLTP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000020.11:g.45900339T>C, NC_000020.10:g.44528978T>C, NG_012115.2:g.16809A>G, NG_008291.1:g.14388T>C

Select item 148816782318.

rs1488167823 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:45911516 (GRCh38)
20:44540155 (GRCh37)
Canonical SPDI:: NC_000020.11:45911515:T:C
Gene:: PLTP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.45911516T>C, NC_000020.10:g.44540155T>C, NG_012115.2:g.5632A>G

Select item 148795594019.

rs1487955940 [Homo sapiens]

Variant type:: INS
Alleles:: ->ACATCCAGCCATCCCCATTTTGAAA,ACATCCAGCCATCCCCATTTTGAAACCATTCCTGGGAACCCA,ACATCCAGCCATCCCCATTTTGAAACCATTCCTGGGAACCCACT,ACATCCAGCCATCCCCATTTTGAAACCATTCCTGGGAACCCACTCAGT [Show Flanks]
Chromosome:: 20:45914042 (GRCh38)
20:44542682 (GRCh37)
Canonical SPDI:: NC_000020.11:45914042::ACATCCAGCCATCCCCATTTTGAAA,NC_000020.11:45914042::ACATCCAGCCATCCCCATTTTGAAACCATTCCTGGGAACCCA,NC_000020.11:45914042::ACATCCAGCCATCCCCATTTTGAAACCATTCCTGGGAACCCACT,NC_000020.11:45914042::ACATCCAGCCATCCCCATTTTGAAACCATTCCTGGGAACCCACTCAGT
Gene:: PLTP (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACATCCAGCCATCCCCATTTTGAAA=0.0002/1 (ALFA)
HGVS:: NC_000020.11:g.45914042_45914043insACATCCAGCCATCCCCATTTTGAAA, NC_000020.11:g.45914042_45914043insACATCCAGCCATCCCCATTTTGAAACCATTCCTGGGAACCCA, NC_000020.11:g.45914042_45914043insACATCCAGCCATCCCCATTTTGAAACCATTCCTGGGAACCCACT, NC_000020.11:g.45914042_45914043insACATCCAGCCATCCCCATTTTGAAACCATTCCTGGGAACCCACTCAGT, NC_000020.10:g.44542681_44542682insACATCCAGCCATCCCCATTTTGAAA, NC_000020.10:g.44542681_44542682insACATCCAGCCATCCCCATTTTGAAACCATTCCTGGGAACCCA, NC_000020.10:g.44542681_44542682insACATCCAGCCATCCCCATTTTGAAACCATTCCTGGGAACCCACT, NC_000020.10:g.44542681_44542682insACATCCAGCCATCCCCATTTTGAAACCATTCCTGGGAACCCACTCAGT, NG_012115.2:g.3105_3106insTTTCAAAATGGGGATGGCTGGATGT, NG_012115.2:g.3105_3106insTGGGTTCCCAGGAATGGTTTCAAAATGGGGATGGCTGGATGT, NG_012115.2:g.3105_3106insAGTGGGTTCCCAGGAATGGTTTCAAAATGGGGATGGCTGGATGT, NG_012115.2:g.3105_3106insACTGAGTGGGTTCCCAGGAATGGTTTCAAAATGGGGATGGCTGGATGT

Select item 148790412320.

rs1487904123 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGGAAAGGCCGTGCATG [Show Flanks]
Chromosome:: 20:45905966 (GRCh38)
20:44534606 (GRCh37)
Canonical SPDI:: NC_000020.11:45905966:TGGGGAAAGGCCGTGCATG:TGGGGAAAGGCCGTGCATGGGGAAAGGCCGTGCATG
Gene:: PLTP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGGGGAAAGGCCGTGCATGGGGAAAGGCCGTGCATG=0./0 (ALFA)
TGGGGAAAGGCCGTGCA=0.000021/3 (GnomAD)
TGGGGAAAGGCCGTGCA=0.000042/11 (TOPMED)
HGVS:: NC_000020.11:g.45905969_45905985dup, NC_000020.10:g.44534608_44534624dup, NG_012115.2:g.11165_11181dup

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