SNP Links for Gene (Select 57061) - SNP

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Select item 14908548541.

rs1490854854 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:144007973 (GRCh38)
6:144329110 (GRCh37)
Canonical SPDI:: NC_000006.12:144007972:G:A,NC_000006.12:144007972:G:C
Gene:: PLAGL1 (Varview), HYMAI (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000006.12:g.144007973G>A, NC_000006.12:g.144007973G>C, NC_000006.11:g.144329110G>A, NC_000006.11:g.144329110G>C, NG_009384.2:g.61626C>T, NG_009384.2:g.61626C>G, NG_016174.1:g.5758C>T, NG_016174.1:g.5758C>G, NR_002768.3:n.287C>T, NR_002768.3:n.287C>G, NR_002768.2:n.758C>T, NR_002768.2:n.758C>G, NR_002768.1:n.758C>T, NR_002768.1:n.758C>G

Select item 14908442352.

rs1490844235 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:144009771 (GRCh38)
6:144330908 (GRCh37)
Canonical SPDI:: NC_000006.12:144009770:T:C
Gene:: PLAGL1 (Varview), HYMAI (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.144009771T>C, NC_000006.11:g.144330908T>C, NG_009384.2:g.59828A>G, NG_016174.1:g.3960A>G

Select item 14904863093.

rs1490486309 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:144007971 (GRCh38)
6:144329108 (GRCh37)
Canonical SPDI:: NC_000006.12:144007970:G:A
Gene:: PLAGL1 (Varview), HYMAI (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000006.12:g.144007971G>A, NC_000006.11:g.144329108G>A, NG_009384.2:g.61628C>T, NG_016174.1:g.5760C>T, NR_002768.3:n.289C>T, NR_002768.2:n.760C>T, NR_002768.1:n.760C>T

Select item 14904402254.

rs1490440225 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:144005517 (GRCh38)
6:144326654 (GRCh37)
Canonical SPDI:: NC_000006.12:144005516:T:C
Gene:: PLAGL1 (Varview), HYMAI (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000006.12:g.144005517T>C, NC_000006.11:g.144326654T>C, NG_009384.2:g.64082A>G, NG_016174.1:g.8214A>G, NR_002768.3:n.2743A>G, NR_002768.2:n.3214A>G, NR_002768.1:n.3214A>G

Select item 14903224025.

rs1490322402 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 6:144006944 (GRCh38)
6:144328081 (GRCh37)
Canonical SPDI:: NC_000006.12:144006942:TCT:T
Gene:: PLAGL1 (Varview), HYMAI (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.144006944_144006945del, NC_000006.11:g.144328081_144328082del, NG_009384.2:g.62655_62656del, NG_016174.1:g.6787_6788del, NR_002768.3:n.1316_1317del, NR_002768.2:n.1787_1788del, NR_002768.1:n.1787_1788del

Select item 14897638436.

rs1489763843 has merged into rs34667577 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT,TTT,TTTTTTTT [Show Flanks]
Chromosome:: 6:144006207 (GRCh38)
6:144327344 (GRCh37)
Canonical SPDI:: NC_000006.12:144006206:TTTTTTTTTT:TTTTTTTTT,NC_000006.12:144006206:TTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:144006206:TTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:144006206:TTTTTTTTTT:TTTTTTTTTTTTTTTTT
Gene:: PLAGL1 (Varview), HYMAI (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.19409/972 (1000Genomes)
-=0.225/9 (GENOME_DK)
-=0.22653/415 (Korea1K)
-=0.22846/228 (GoNL)
-=0.24375/1092 (Estonian)
-=0.25246/973 (ALSPAC)
-=0.25863/959 (TWINSUK)
-=0.30333/182 (NorthernSweden)
HGVS:: NC_000006.12:g.144006216del, NC_000006.12:g.144006216dup, NC_000006.12:g.144006215_144006216dup, NC_000006.12:g.144006210_144006216dup, NC_000006.11:g.144327353del, NC_000006.11:g.144327353dup, NC_000006.11:g.144327352_144327353dup, NC_000006.11:g.144327347_144327353dup, NG_009384.2:g.63392del, NG_009384.2:g.63392dup, NG_009384.2:g.63391_63392dup, NG_009384.2:g.63386_63392dup, NG_016174.1:g.7524del, NG_016174.1:g.7524dup, NG_016174.1:g.7523_7524dup, NG_016174.1:g.7518_7524dup, NR_002768.3:n.2053del, NR_002768.3:n.2053dup, NR_002768.3:n.2052_2053dup, NR_002768.3:n.2047_2053dup, NR_002768.2:n.2524del, NR_002768.2:n.2524dup, NR_002768.2:n.2523_2524dup, NR_002768.2:n.2518_2524dup, NR_002768.1:n.2524del, NR_002768.1:n.2524dup, NR_002768.1:n.2523_2524dup, NR_002768.1:n.2518_2524dup

Select item 14896849957.

rs1489684995 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:144008741 (GRCh38)
6:144329878 (GRCh37)
Canonical SPDI:: NC_000006.12:144008740:T:A
Gene:: PLAGL1 (Varview), HYMAI (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.144008741T>A, NC_000006.11:g.144329878T>A, NG_009384.2:g.60858A>T, NG_016174.1:g.4990A>T

Select item 14896275708.

rs1489627570 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGAG>- [Show Flanks]
Chromosome:: 6:144008256 (GRCh38)
6:144329393 (GRCh37)
Canonical SPDI:: NC_000006.12:144008252:GAGTGAG:GAG
Gene:: PLAGL1 (Varview), HYMAI (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.144008256_144008259del, NC_000006.11:g.144329393_144329396del, NG_009384.2:g.61343_61346del, NM_006718.5:c.-742_-739del, NM_006718.4:c.-742_-739del, NM_006718.3:c.-742_-739del, NM_001080952.3:c.-756_-753del, NM_001080952.2:c.-756_-753del, NM_001080952.1:c.-756_-753del, NM_001080953.3:c.-710_-707del, NM_001080953.2:c.-710_-707del, NM_001080953.1:c.-710_-707del, NM_001080954.3:c.-709_-706del, NM_001080954.2:c.-709_-706del, NM_001080954.1:c.-709_-706del, NM_001080956.3:c.-404_-401del, NM_001080956.2:c.-404_-401del, NM_001080956.1:c.-404_-401del, NM_001289045.2:c.-1018_-1015del, NM_001289045.1:c.-1018_-1015del, NM_001289046.2:c.-999_-996del, NM_001289046.1:c.-999_-996del, NM_001317162.2:c.-750_-747del, NM_001317162.1:c.-750_-747del, NM_001317161.2:c.-724_-721del, NM_001317161.1:c.-724_-721del, NM_001289048.2:c.-724_-721del, NM_001289048.1:c.-724_-721del, NM_001289049.2:c.-669_-666del, NM_001289049.1:c.-669_-666del, NM_001289047.2:c.-563_-560del, NM_001289047.1:c.-563_-560del, NM_001289041.2:c.-404_-401del, NM_001289041.1:c.-404_-401del, NM_001317160.2:c.-390_-387del, NM_001317160.1:c.-390_-387del, NG_016174.1:g.5475_5478del, NR_002768.3:n.4_7del, NR_002768.2:n.475_478del, NR_002768.1:n.475_478del, NM_002656.3:c.-436_-433del

Select item 14894481659.

rs1489448165 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:144010336 (GRCh38)
6:144331473 (GRCh37)
Canonical SPDI:: NC_000006.12:144010335:G:A
Gene:: PLAGL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,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_000006.12:g.144010336G>A, NC_000006.11:g.144331473G>A, NG_009384.2:g.59263C>T, NG_016174.1:g.3395C>T

Select item 148870820510.

rs1488708205 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:144009185 (GRCh38)
6:144330322 (GRCh37)
Canonical SPDI:: NC_000006.12:144009184:A:G
Gene:: PLAGL1 (Varview), HYMAI (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.144009185A>G, NC_000006.11:g.144330322A>G, NG_009384.2:g.60414T>C, NG_016174.1:g.4546T>C

Select item 148864679711.

rs1488646797 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:144008480 (GRCh38)
6:144329617 (GRCh37)
Canonical SPDI:: NC_000006.12:144008479:C:A
Gene:: PLAGL1 (Varview), HYMAI (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000006.12:g.144008480C>A, NC_000006.11:g.144329617C>A, NG_009384.2:g.61119G>T, NG_016174.1:g.5251G>T, NR_002768.2:n.251G>T, NR_002768.1:n.251G>T

Select item 148785128912.

rs1487851289 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:144009762 (GRCh38)
6:144330899 (GRCh37)
Canonical SPDI:: NC_000006.12:144009761:T:C
Gene:: PLAGL1 (Varview), HYMAI (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.144009762T>C, NC_000006.11:g.144330899T>C, NG_009384.2:g.59837A>G, NG_016174.1:g.3969A>G

Select item 148758321713.

rs1487583217 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:144008528 (GRCh38)
6:144329665 (GRCh37)
Canonical SPDI:: NC_000006.12:144008527:A:G
Gene:: PLAGL1 (Varview), HYMAI (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000006.12:g.144008528A>G, NC_000006.11:g.144329665A>G, NG_009384.2:g.61071T>C, NG_016174.1:g.5203T>C, NR_002768.2:n.203T>C, NR_002768.1:n.203T>C

Select item 148756011414.

rs1487560114 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:144009927 (GRCh38)
6:144331064 (GRCh37)
Canonical SPDI:: NC_000006.12:144009926:A:C
Gene:: PLAGL1 (Varview), HYMAI (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000684/2 (KOREAN)
HGVS:: NC_000006.12:g.144009927A>C, NC_000006.11:g.144331064A>C, NG_009384.2:g.59672T>G, NG_016174.1:g.3804T>G

Select item 148750851915.

rs1487508519 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:144007990 (GRCh38)
6:144329127 (GRCh37)
Canonical SPDI:: NC_000006.12:144007989:C:T
Gene:: PLAGL1 (Varview), HYMAI (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000042/11 (TOPMED)
T=0.000064/9 (GnomAD)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000006.12:g.144007990C>T, NC_000006.11:g.144329127C>T, NG_009384.2:g.61609G>A, NG_016174.1:g.5741G>A, NR_002768.3:n.270G>A, NR_002768.2:n.741G>A, NR_002768.1:n.741G>A

Select item 148648489116.

rs1486484891 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:144007102 (GRCh38)
6:144328239 (GRCh37)
Canonical SPDI:: NC_000006.12:144007101:C:T
Gene:: PLAGL1 (Varview), HYMAI (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_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_000006.12:g.144007102C>T, NC_000006.11:g.144328239C>T, NG_009384.2:g.62497G>A, NG_016174.1:g.6629G>A, NR_002768.3:n.1158G>A, NR_002768.2:n.1629G>A, NR_002768.1:n.1629G>A

Select item 148645527117.

rs1486455271 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 6:144007934 (GRCh38)
6:144329071 (GRCh37)
Canonical SPDI:: NC_000006.12:144007933:C:A,NC_000006.12:144007933:C:G
Gene:: PLAGL1 (Varview), HYMAI (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.144007934C>A, NC_000006.12:g.144007934C>G, NC_000006.11:g.144329071C>A, NC_000006.11:g.144329071C>G, NG_009384.2:g.61665G>T, NG_009384.2:g.61665G>C, NG_016174.1:g.5797G>T, NG_016174.1:g.5797G>C, NR_002768.3:n.326G>T, NR_002768.3:n.326G>C, NR_002768.2:n.797G>T, NR_002768.2:n.797G>C, NR_002768.1:n.797G>T, NR_002768.1:n.797G>C

Select item 148537295718.

rs1485372957 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:144005232 (GRCh38)
6:144326369 (GRCh37)
Canonical SPDI:: NC_000006.12:144005231:A:G
Gene:: PLAGL1 (Varview), HYMAI (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000006.12:g.144005232A>G, NC_000006.11:g.144326369A>G, NG_009384.2:g.64367T>C, NG_016174.1:g.8499T>C, NR_002768.3:n.3028T>C, NR_002768.2:n.3499T>C, NR_002768.1:n.3499T>C

Select item 148459925119.

rs1484599251 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:144004846 (GRCh38)
6:144325983 (GRCh37)
Canonical SPDI:: NC_000006.12:144004845:A:C
Gene:: PLAGL1 (Varview), HYMAI (Varview)
Functional Consequence:: genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.144004846A>C, NC_000006.11:g.144325983A>C, NG_009384.2:g.64753T>G, NG_016174.1:g.8885T>G, NR_002768.1:n.3885T>G

Select item 148397756820.

rs1483977568 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 6:144005886 (GRCh38)
6:144327024 (GRCh37)
Canonical SPDI:: NC_000006.12:144005886:TT:TTT
Gene:: PLAGL1 (Varview), HYMAI (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
T=0.000029/4 (GnomAD)
T=0.000034/9 (TOPMED)
HGVS:: NC_000006.12:g.144005888dup, NC_000006.11:g.144327025dup, NG_009384.2:g.63712dup, NG_016174.1:g.7844dup, NR_002768.3:n.2373dup, NR_002768.2:n.2844dup, NR_002768.1:n.2844dup

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