SNP Links for Gene (Select 6490) - SNP

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Select item 14908517961.

rs1490851796 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:55961751 (GRCh38)
12:56355535 (GRCh37)
Canonical SPDI:: NC_000012.12:55961750:G:A
Gene:: PMEL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000342/1 (KOREAN)
HGVS:: NC_000012.12:g.55961751G>A, NC_000012.11:g.56355535G>A, NG_028086.1:g.9962C>T

Select item 14906774482.

rs1490677448 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:55967412 (GRCh38)
12:56361196 (GRCh37)
Canonical SPDI:: NC_000012.12:55967411:A:T
Gene:: CDK2 (Varview), PMEL (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000447/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000446/2 (Estonian)
HGVS:: NC_000012.12:g.55967412A>T, NC_000012.11:g.56361196A>T, NG_028086.1:g.4301T>A, NG_034014.1:g.5644A>T

Select item 14905225173.

rs1490522517 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:55966311 (GRCh38)
12:56360095 (GRCh37)
Canonical SPDI:: NC_000012.12:55966310:A:G
Gene:: CDK2 (Varview), PMEL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.55966311A>G, NC_000012.11:g.56360095A>G, NG_028086.1:g.5402T>C, NG_034014.1:g.4543A>G

Select item 14903236564.

rs1490323656 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:55965804 (GRCh38)
12:56359588 (GRCh37)
Canonical SPDI:: NC_000012.12:55965803:A:G
Gene:: CDK2 (Varview), PMEL (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.55965804A>G, NC_000012.11:g.56359588A>G, NG_028086.1:g.5909T>C, NG_034014.1:g.4036A>G

Select item 14901377285.

rs1490137728 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:55959530 (GRCh38)
12:56353314 (GRCh37)
Canonical SPDI:: NC_000012.12:55959529:C:A,NC_000012.12:55959529:C:T
Gene:: PMEL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.55959530C>A, NC_000012.12:g.55959530C>T, NC_000012.11:g.56353314C>A, NC_000012.11:g.56353314C>T, NG_028086.1:g.12183G>T, NG_028086.1:g.12183G>A

Select item 14899755136.

rs1489975513 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:55960006 (GRCh38)
12:56353790 (GRCh37)
Canonical SPDI:: NC_000012.12:55960005:A:G
Gene:: PMEL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.55960006A>G, NC_000012.11:g.56353790A>G, NG_028086.1:g.11707T>C

Select item 14897303337.

rs1489730333 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:55960693 (GRCh38)
12:56354477 (GRCh37)
Canonical SPDI:: NC_000012.12:55960692:C:T
Gene:: PMEL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.55960693C>T, NC_000012.11:g.56354477C>T, NG_028086.1:g.11020G>A

Select item 14895484838.

rs1489548483 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:55958124 (GRCh38)
12:56351908 (GRCh37)
Canonical SPDI:: NC_000012.12:55958123:C:T
Gene:: PMEL (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000012.12:g.55958124C>T, NC_000012.11:g.56351908C>T, NG_028086.1:g.13589G>A

Select item 14893240789.

rs1489324078 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:55964035 (GRCh38)
12:56357819 (GRCh37)
Canonical SPDI:: NC_000012.12:55964034:G:A
Gene:: PMEL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000029/4 (GnomAD)
A=0.000178/3 (TOMMO)
A=0.000546/1 (Korea1K)
A=0.001027/3 (KOREAN)
HGVS:: NC_000012.12:g.55964035G>A, NC_000012.11:g.56357819G>A, NG_028086.1:g.7678C>T, NG_034014.1:g.2267G>A

Select item 148921074310.

rs1489210743 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:55956917 (GRCh38)
12:56350701 (GRCh37)
Canonical SPDI:: NC_000012.12:55956916:T:G
Gene:: PMEL (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_000012.12:g.55956917T>G, NC_000012.11:g.56350701T>G, NG_028086.1:g.14796A>C

Select item 148914190411.

rs1489141904 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:55955143 (GRCh38)
12:56348927 (GRCh37)
Canonical SPDI:: NC_000012.12:55955142:C:G,NC_000012.12:55955142:C:T
Gene:: PMEL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000012.12:g.55955143C>G, NC_000012.12:g.55955143C>T, NC_000012.11:g.56348927C>G, NC_000012.11:g.56348927C>T, NG_028086.1:g.16570G>C, NG_028086.1:g.16570G>A

Select item 148898431312.

rs1488984313 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:55962299 (GRCh38)
12:56356083 (GRCh37)
Canonical SPDI:: NC_000012.12:55962298:C:T
Gene:: PMEL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000253/3 (ALFA)
T=0.000093/13 (GnomAD)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000012.12:g.55962299C>T, NC_000012.11:g.56356083C>T, NG_028086.1:g.9414G>A, NG_034014.1:g.531C>T

Select item 148884480813.

rs1488844808 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:55954070 (GRCh38)
12:56347854 (GRCh37)
Canonical SPDI:: NC_000012.12:55954069:G:A
Gene:: DGKA (Varview), PMEL (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.55954070G>A, NC_000012.11:g.56347854G>A, NG_028086.1:g.17643C>T

Select item 148808625714.

rs1488086257 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:55957540 (GRCh38)
12:56351324 (GRCh37)
Canonical SPDI:: NC_000012.12:55957539:C:A
Gene:: PMEL (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000012.12:g.55957540C>A, NC_000012.11:g.56351324C>A, NG_028086.1:g.14173G>T, NM_006928.5:c.763G>T, NM_006928.4:c.763G>T, NM_001200054.1:c.763G>T, NM_001384361.1:c.763G>T, NM_001320121.1:c.763G>T, NM_001320122.1:c.763G>T, NM_001200053.1:c.505G>T, NP_008859.1:p.Asp255Tyr, NP_001186983.1:p.Asp255Tyr, NP_001371290.1:p.Asp255Tyr, NP_001307050.1:p.Asp255Tyr, NP_001307051.1:p.Asp255Tyr, NP_001186982.1:p.Asp169Tyr

Select item 148787887015.

rs1487878870 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:55961027 (GRCh38)
12:56354811 (GRCh37)
Canonical SPDI:: NC_000012.12:55961026:C:A
Gene:: PMEL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000084/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.55961027C>A, NC_000012.11:g.56354811C>A, NG_028086.1:g.10686G>T

Select item 148769112316.

rs1487691123 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:55964482 (GRCh38)
12:56358266 (GRCh37)
Canonical SPDI:: NC_000012.12:55964481:G:A,NC_000012.12:55964481:G:C
Gene:: PMEL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.55964482G>A, NC_000012.12:g.55964482G>C, NC_000012.11:g.56358266G>A, NC_000012.11:g.56358266G>C, NG_028086.1:g.7231C>T, NG_028086.1:g.7231C>G, NG_034014.1:g.2714G>A, NG_034014.1:g.2714G>C

Select item 148736324617.

rs1487363246 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:55964917 (GRCh38)
12:56358701 (GRCh37)
Canonical SPDI:: NC_000012.12:55964916:T:A
Gene:: CDK2 (Varview), PMEL (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.55964917T>A, NC_000012.11:g.56358701T>A, NG_028086.1:g.6796A>T, NG_034014.1:g.3149T>A

Select item 148720650218.

rs1487206502 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:55958625 (GRCh38)
12:56352409 (GRCh37)
Canonical SPDI:: NC_000012.12:55958624:A:T
Gene:: PMEL (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_000012.12:g.55958625A>T, NC_000012.11:g.56352409A>T, NG_028086.1:g.13088T>A

Select item 148695225819.

rs1486952258 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 12:55965936 (GRCh38)
12:56359721 (GRCh37)
Canonical SPDI:: NC_000012.12:55965936:TTTT:TTTTT
Gene:: CDK2 (Varview), PMEL (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTTTT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.55965940dup, NC_000012.11:g.56359724dup, NG_028086.1:g.5776dup, NM_006928.5:c.75dup, NM_006928.4:c.75dup, NM_001200054.1:c.75dup, NM_001384361.1:c.75dup, NM_001320121.1:c.75dup, NM_001320122.1:c.75dup, NM_001200053.1:c.75dup, NG_034014.1:g.4172dup, NP_008859.1:p.Val26fs, NP_001186983.1:p.Val26fs, NP_001371290.1:p.Val26fs, NP_001307050.1:p.Val26fs, NP_001307051.1:p.Val26fs, NP_001186982.1:p.Gly26fs

Select item 148678933320.

rs1486789333 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:55955436 (GRCh38)
12:56349220 (GRCh37)
Canonical SPDI:: NC_000012.12:55955435:T:G
Gene:: PMEL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.55955436T>G, NC_000012.11:g.56349220T>G, NG_028086.1:g.16277A>C

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