SNP Links for Gene (Select 220832) - SNP

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Items: 1 to 20 of 2202

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Select item 14910760681.

rs1491076068 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 7:152438816 (GRCh38)
7:152135902 (GRCh37)
Canonical SPDI:: NC_000007.14:152438816:T:TGT
Gene:: FABP5P3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGT=0./0 (ALFA)
TG=0.000034/9 (TOPMED)
HGVS:: NC_000007.14:g.152438817_152438818insGT, NC_000007.13:g.152135902_152135903insGT, NG_033948.1:g.2189_2190insCA

Select item 14904834902.

rs1490483490 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 7:152438502 (GRCh38)
7:152135587 (GRCh37)
Canonical SPDI:: NC_000007.14:152438501:TTTTT:TTTT
Gene:: FABP5P3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.152438506del, NC_000007.13:g.152135591del, NG_033948.1:g.2504del

Select item 14904374863.

rs1490437486 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:152440418 (GRCh38)
7:152137503 (GRCh37)
Canonical SPDI:: NC_000007.14:152440417:G:A
Gene:: FABP5P3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000035/1 (TOMMO)
A=0.000071/10 (GnomAD)
A=0.00014/37 (TOPMED)
HGVS:: NC_000007.14:g.152440418G>A, NC_000007.13:g.152137503G>A, NG_033948.1:g.588C>T

Select item 14901574794.

rs1490157479 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:152440266 (GRCh38)
7:152137351 (GRCh37)
Canonical SPDI:: NC_000007.14:152440265:C:A,NC_000007.14:152440265:C:T
Gene:: FABP5P3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.152440266C>A, NC_000007.14:g.152440266C>T, NC_000007.13:g.152137351C>A, NC_000007.13:g.152137351C>T, NG_033948.1:g.740G>T, NG_033948.1:g.740G>A

Select item 14901195685.

rs1490119568 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:152434988 (GRCh38)
7:152132073 (GRCh37)
Canonical SPDI:: NC_000007.14:152434987:G:A,NC_000007.14:152434987:G:C
Gene:: KMT2C (Varview), FABP5P3 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.152434988G>A, NC_000007.14:g.152434988G>C, NC_000007.13:g.152132073G>A, NC_000007.13:g.152132073G>C, NG_033948.1:g.6018C>T, NG_033948.1:g.6018C>G

Select item 14899938266.

rs1489993826 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:152439453 (GRCh38)
7:152136538 (GRCh37)
Canonical SPDI:: NC_000007.14:152439452:A:G
Gene:: FABP5P3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000091/24 (TOPMED)
G=0.0001/14 (GnomAD)
HGVS:: NC_000007.14:g.152439453A>G, NC_000007.13:g.152136538A>G, NG_033948.1:g.1553T>C

Select item 14897307567.

rs1489730756 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:152442031 (GRCh38)
7:152139116 (GRCh37)
Canonical SPDI:: NC_000007.14:152442030:T:A
Gene:: FABP5P3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.152442031T>A, NC_000007.13:g.152139116T>A

Select item 14896949108.

rs1489694910 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:152443429 (GRCh38)
7:152140514 (GRCh37)
Canonical SPDI:: NC_000007.14:152443428:G:A,NC_000007.14:152443428:G:T
Gene:: FABP5P3 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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_000007.14:g.152443429G>A, NC_000007.14:g.152443429G>T, NC_000007.13:g.152140514G>A, NC_000007.13:g.152140514G>T

Select item 14894905819.

rs1489490581 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:152440521 (GRCh38)
7:152137606 (GRCh37)
Canonical SPDI:: NC_000007.14:152440520:C:G,NC_000007.14:152440520:C:T
Gene:: FABP5P3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.152440521C>G, NC_000007.14:g.152440521C>T, NC_000007.13:g.152137606C>G, NC_000007.13:g.152137606C>T, NG_033948.1:g.485G>C, NG_033948.1:g.485G>A

Select item 148927729010.

rs1489277290 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:152435210 (GRCh38)
7:152132295 (GRCh37)
Canonical SPDI:: NC_000007.14:152435209:T:A
Gene:: KMT2C (Varview), FABP5P3 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_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_000007.14:g.152435210T>A, NC_000007.13:g.152132295T>A, NG_033948.1:g.5796A>T

Select item 148921532011.

rs1489215320 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:152436504 (GRCh38)
7:152133589 (GRCh37)
Canonical SPDI:: NC_000007.14:152436503:C:T
Gene:: KMT2C (Varview), FABP5P3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00011/2 (ALFA)
HGVS:: NC_000007.14:g.152436504C>T, NC_000007.13:g.152133589C>T, NG_033948.1:g.4502G>A

Select item 148918776312.

rs1489187763 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:152436654 (GRCh38)
7:152133739 (GRCh37)
Canonical SPDI:: NC_000007.14:152436653:G:A,NC_000007.14:152436653:G:C
Gene:: KMT2C (Varview), FABP5P3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.152436654G>A, NC_000007.14:g.152436654G>C, NC_000007.13:g.152133739G>A, NC_000007.13:g.152133739G>C, NG_033948.1:g.4352C>T, NG_033948.1:g.4352C>G

Select item 148894173013.

rs1488941730 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 7:152435020 (GRCh38)
7:152132105 (GRCh37)
Canonical SPDI:: NC_000007.14:152435019:A:
Gene:: KMT2C (Varview), FABP5P3 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.152435020del, NC_000007.13:g.152132105del, NG_033948.1:g.5986del

Select item 148892816014.

rs1488928160 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:152436567 (GRCh38)
7:152133652 (GRCh37)
Canonical SPDI:: NC_000007.14:152436566:G:C
Gene:: KMT2C (Varview), FABP5P3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/2 (GnomAD)
HGVS:: NC_000007.14:g.152436567G>C, NC_000007.13:g.152133652G>C, NG_033948.1:g.4439C>G

Select item 148881002515.

rs1488810025 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:152436454 (GRCh38)
7:152133539 (GRCh37)
Canonical SPDI:: NC_000007.14:152436453:C:A
Gene:: KMT2C (Varview), FABP5P3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000356/5 (ALFA)
A=0.000156/1 (1000Genomes)
A=0.000278/38 (GnomAD)
HGVS:: NC_000007.14:g.152436454C>A, NC_000007.13:g.152133539C>A, NG_033948.1:g.4552G>T

Select item 148829177616.

rs1488291776 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:152436286 (GRCh38)
7:152133371 (GRCh37)
Canonical SPDI:: NC_000007.14:152436285:G:A
Gene:: KMT2C (Varview), FABP5P3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.00003/4 (GnomAD)
HGVS:: NC_000007.14:g.152436286G>A, NC_000007.13:g.152133371G>A, NG_033948.1:g.4720C>T

Select item 148823923617.

rs1488239236 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:152437078 (GRCh38)
7:152134163 (GRCh37)
Canonical SPDI:: NC_000007.14:152437077:T:G
Gene:: KMT2C (Varview), FABP5P3 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.152437078T>G, NC_000007.13:g.152134163T>G, NG_033948.1:g.3928A>C

Select item 148819161518.

rs1488191615 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:152436173 (GRCh38)
7:152133258 (GRCh37)
Canonical SPDI:: NC_000007.14:152436172:G:A
Gene:: KMT2C (Varview), FABP5P3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.152436173G>A, NC_000007.13:g.152133258G>A, NG_033948.1:g.4833C>T

Select item 148816241919.

rs1488162419 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:152438464 (GRCh38)
7:152135549 (GRCh37)
Canonical SPDI:: NC_000007.14:152438463:G:A
Gene:: FABP5P3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000007.14:g.152438464G>A, NC_000007.13:g.152135549G>A, NG_033948.1:g.2542C>T

Select item 148777194020.

rs1487771940 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:152442937 (GRCh38)
7:152140022 (GRCh37)
Canonical SPDI:: NC_000007.14:152442936:A:C
Gene:: FABP5P3 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.152442937A>C, NC_000007.13:g.152140022A>C, NR_002935.1:n.777A>C

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