SNP Links for Gene (Select 148252) - SNP

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Select item 14910253261.

rs1491025326 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:2716423 (GRCh38)
19:2716422 (GRCh37)
Canonical SPDI:: NC_000019.10:2716423:C:CC
Gene:: DIRAS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.2716424dup, NC_000019.9:g.2716422dup, NM_145173.4:c.*786dup, NM_145173.3:c.*786dup, XM_047438275.1:c.*786dup, XM_047438274.1:c.*786dup, XM_047438276.1:c.*786dup

Select item 14908410612.

rs1490841061 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:2721491 (GRCh38)
19:2721489 (GRCh37)
Canonical SPDI:: NC_000019.10:2721490:C:G,NC_000019.10:2721490:C:T
Gene:: DIRAS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000022/3 (GnomAD)
HGVS:: NC_000019.10:g.2721491C>G, NC_000019.10:g.2721491C>T, NC_000019.9:g.2721489C>G, NC_000019.9:g.2721489C>T

Select item 14906506233.

rs1490650623 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:2721175 (GRCh38)
19:2721173 (GRCh37)
Canonical SPDI:: NC_000019.10:2721174:A:G
Gene:: DIRAS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000927/11 (ALFA)
G=0.000015/2 (GnomAD)
G=0.026087/66 (KOREAN)
HGVS:: NC_000019.10:g.2721175A>G, NC_000019.9:g.2721173A>G

Select item 14904495294.

rs1490449529 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:2720783 (GRCh38)
19:2720781 (GRCh37)
Canonical SPDI:: NC_000019.10:2720782:G:A
Gene:: DIRAS1 (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.2720783G>A, NC_000019.9:g.2720781G>A

Select item 14901263075.

rs1490126307 [Homo sapiens]

Variant type:: DEL
Alleles:: AGGCAGC>- [Show Flanks]
Chromosome:: 19:2717159 (GRCh38)
19:2717157 (GRCh37)
Canonical SPDI:: NC_000019.10:2717158:AGGCAGC:
Gene:: DIRAS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: -=0.000184/25 (GnomAD)
-=0.001383/23 (TOMMO)
HGVS:: NC_000019.10:g.2717159_2717165del, NC_000019.9:g.2717157_2717163del, NM_145173.4:c.*45_*51del, NM_145173.3:c.*45_*51del, XM_047438275.1:c.*45_*51del, XM_047438274.1:c.*45_*51del, XM_047438276.1:c.*45_*51del

Select item 14901201586.

rs1490120158 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 19:2719109 (GRCh38)
19:2719107 (GRCh37)
Canonical SPDI:: NC_000019.10:2719108:CC:C
Gene:: DIRAS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0.000071/1 (ALFA)
-=0.000091/24 (TOPMED)
-=0.000107/15 (GnomAD)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000019.10:g.2719110del, NC_000019.9:g.2719108del, XM_047438275.1:c.-798del, XM_047438274.1:c.-798del, XM_047438276.1:c.-798del

Select item 14899582417.

rs1489958241 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:2720000 (GRCh38)
19:2719998 (GRCh37)
Canonical SPDI:: NC_000019.10:2719999:G:A
Gene:: DIRAS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000342/1 (KOREAN)
HGVS:: NC_000019.10:g.2720000G>A, NC_000019.9:g.2719998G>A

Select item 14899385268.

rs1489938526 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:2715314 (GRCh38)
19:2715312 (GRCh37)
Canonical SPDI:: NC_000019.10:2715313:C:T
Gene:: DIRAS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.2715314C>T, NC_000019.9:g.2715312C>T, NM_145173.4:c.*1896G>A, NM_145173.3:c.*1896G>A, XM_047438275.1:c.*1896G>A, XM_047438274.1:c.*1896G>A, XM_047438276.1:c.*1896G>A

Select item 14894648509.

rs1489464850 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:2718413 (GRCh38)
19:2718411 (GRCh37)
Canonical SPDI:: NC_000019.10:2718412:C:G
Gene:: DIRAS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.2718413C>G, NC_000019.9:g.2718411C>G, XM_047438275.1:c.-102G>C, XM_047438274.1:c.-102G>C, XM_047438276.1:c.-102G>C

Select item 148935492610.

rs1489354926 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:2716476 (GRCh38)
19:2716474 (GRCh37)
Canonical SPDI:: NC_000019.10:2716475:C:T
Gene:: DIRAS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.2716476C>T, NC_000019.9:g.2716474C>T, NM_145173.4:c.*734G>A, NM_145173.3:c.*734G>A, XM_047438275.1:c.*734G>A, XM_047438274.1:c.*734G>A, XM_047438276.1:c.*734G>A

Select item 148917396811.

rs1489173968 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:2723139 (GRCh38)
19:2723137 (GRCh37)
Canonical SPDI:: NC_000019.10:2723138:T:C
Gene:: DIRAS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.2723139T>C, NC_000019.9:g.2723137T>C

Select item 148904384212.

rs1489043842 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:2720605 (GRCh38)
19:2720603 (GRCh37)
Canonical SPDI:: NC_000019.10:2720604:T:G
Gene:: DIRAS1 (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.2720605T>G, NC_000019.9:g.2720603T>G

Select item 148855553713.

rs1488555537 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:2715460 (GRCh38)
19:2715458 (GRCh37)
Canonical SPDI:: NC_000019.10:2715459:C:G
Gene:: DIRAS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000038/10 (TOPMED)
G=0.00005/7 (GnomAD)
HGVS:: NC_000019.10:g.2715460C>G, NC_000019.9:g.2715458C>G, NM_145173.4:c.*1750G>C, NM_145173.3:c.*1750G>C, XM_047438275.1:c.*1750G>C, XM_047438274.1:c.*1750G>C, XM_047438276.1:c.*1750G>C

Select item 148838758414.

rs1488387584 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:2719794 (GRCh38)
19:2719792 (GRCh37)
Canonical SPDI:: NC_000019.10:2719793:G:A
Gene:: DIRAS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.2719794G>A, NC_000019.9:g.2719792G>A

Select item 148829847415.

rs1488298474 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:2720965 (GRCh38)
19:2720963 (GRCh37)
Canonical SPDI:: NC_000019.10:2720964:C:A
Gene:: DIRAS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.2720965C>A, NC_000019.9:g.2720963C>A

Select item 148796618616.

rs1487966186 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:2721935 (GRCh38)
19:2721933 (GRCh37)
Canonical SPDI:: NC_000019.10:2721934:G:T
Gene:: DIRAS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000071/1 (TOMMO)
HGVS:: NC_000019.10:g.2721935G>T, NC_000019.9:g.2721933G>T

Select item 148790493317.

rs1487904933 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:2714113 (GRCh38)
19:2714111 (GRCh37)
Canonical SPDI:: NC_000019.10:2714112:C:T
Gene:: DIRAS1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000337/4 (ALFA)
T=0.000028/3 (GnomAD)
HGVS:: NC_000019.10:g.2714113C>T, NC_000019.9:g.2714111C>T

Select item 148785347418.

rs1487853474 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:2715711 (GRCh38)
19:2715709 (GRCh37)
Canonical SPDI:: NC_000019.10:2715710:A:C
Gene:: DIRAS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.2715711A>C, NC_000019.9:g.2715709A>C, NM_145173.4:c.*1499T>G, NM_145173.3:c.*1499T>G, XM_047438275.1:c.*1499T>G, XM_047438274.1:c.*1499T>G, XM_047438276.1:c.*1499T>G

Select item 148701789219.

rs1487017892 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:2721163 (GRCh38)
19:2721161 (GRCh37)
Canonical SPDI:: NC_000019.10:2721162:G:A
Gene:: DIRAS1 (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.2721163G>A, NC_000019.9:g.2721161G>A

Select item 148691185620.

rs1486911856 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:2719226 (GRCh38)
19:2719224 (GRCh37)
Canonical SPDI:: NC_000019.10:2719225:C:G,NC_000019.10:2719225:C:T
Gene:: DIRAS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.2719226C>G, NC_000019.10:g.2719226C>T, NC_000019.9:g.2719224C>G, NC_000019.9:g.2719224C>T, XM_047438275.1:c.-915G>C, XM_047438275.1:c.-915G>A

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