SNP Links for Nucleotide (Select 1227523198) - SNP

Links from Nucleotide

Items: 1 to 20 of 100

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Select item 14901121301.

rs1490112130 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:30616533 (GRCh38)
21:31988852 (GRCh37)
Canonical SPDI:: NC_000021.9:30616532:T:C
Gene:: KRTAP20-1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.30616533T>C, NC_000021.8:g.31988852T>C, NM_181615.2:c.79T>C, NM_181615.1:c.79T>C, NP_853646.1:p.Tyr27His

Select item 14800129272.

rs1480012927 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:30616473 (GRCh38)
21:31988792 (GRCh37)
Canonical SPDI:: NC_000021.9:30616472:T:C
Gene:: KRTAP20-1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.30616473T>C, NC_000021.8:g.31988792T>C, NM_181615.2:c.19T>C, NM_181615.1:c.19T>C, NP_853646.1:p.Tyr7His

Select item 14609563673.

rs1460956367 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:30616660 (GRCh38)
21:31988979 (GRCh37)
Canonical SPDI:: NC_000021.9:30616659:G:A
Gene:: KRTAP20-1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
HGVS:: NC_000021.9:g.30616660G>A, NC_000021.8:g.31988979G>A, NM_181615.2:c.*35G>A

Select item 14532594194.

rs1453259419 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:30616643 (GRCh38)
21:31988962 (GRCh37)
Canonical SPDI:: NC_000021.9:30616642:C:A
Gene:: KRTAP20-1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000021.9:g.30616643C>A, NC_000021.8:g.31988962C>A, NM_181615.2:c.*18C>A

Select item 14243448415.

rs1424344841 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:30616553 (GRCh38)
21:31988872 (GRCh37)
Canonical SPDI:: NC_000021.9:30616552:C:G
Gene:: KRTAP20-1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000019/5 (TOPMED)
HGVS:: NC_000021.9:g.30616553C>G, NC_000021.8:g.31988872C>G, NM_181615.2:c.99C>G, NM_181615.1:c.99C>G

Select item 14197791636.

rs1419779163 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:30616548 (GRCh38)
21:31988867 (GRCh37)
Canonical SPDI:: NC_000021.9:30616547:G:A
Gene:: KRTAP20-1 (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=0.000008/2 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.30616548G>A, NC_000021.8:g.31988867G>A, NM_181615.2:c.94G>A, NM_181615.1:c.94G>A, NP_853646.1:p.Gly32Ser

Select item 14073220077.

rs1407322007 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 21:30616546 (GRCh38)
21:31988865 (GRCh37)
Canonical SPDI:: NC_000021.9:30616545:A:T
Gene:: KRTAP20-1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.30616546A>T, NC_000021.8:g.31988865A>T, NM_181615.2:c.92A>T, NM_181615.1:c.92A>T, NP_853646.1:p.Tyr31Phe

Select item 13906714088.

rs1390671408 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 21:30616491 (GRCh38)
21:31988810 (GRCh37)
Canonical SPDI:: NC_000021.9:30616490:T:G
Gene:: KRTAP20-1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.30616491T>G, NC_000021.8:g.31988810T>G, NM_181615.2:c.37T>G, NM_181615.1:c.37T>G, NP_853646.1:p.Tyr13Asp

Select item 13874316619.

rs1387431661 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 21:30616613 (GRCh38)
21:31988932 (GRCh37)
Canonical SPDI:: NC_000021.9:30616612:T:A,NC_000021.9:30616612:T:C
Gene:: KRTAP20-1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,stop_gained
HGVS:: NC_000021.9:g.30616613T>A, NC_000021.9:g.30616613T>C, NC_000021.8:g.31988932T>A, NC_000021.8:g.31988932T>C, NM_181615.2:c.159T>A, NM_181615.2:c.159T>C, NM_181615.1:c.159T>A, NM_181615.1:c.159T>C, NP_853646.1:p.Tyr53Ter

Select item 138353849410.

rs1383538494 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 21:30616603 (GRCh38)
21:31988922 (GRCh37)
Canonical SPDI:: NC_000021.9:30616602:A:G,NC_000021.9:30616602:A:T
Gene:: KRTAP20-1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.30616603A>G, NC_000021.9:g.30616603A>T, NC_000021.8:g.31988922A>G, NC_000021.8:g.31988922A>T, NM_181615.2:c.149A>G, NM_181615.2:c.149A>T, NM_181615.1:c.149A>G, NM_181615.1:c.149A>T, NP_853646.1:p.Tyr50Cys, NP_853646.1:p.Tyr50Phe

Select item 138251368711.

rs1382513687 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:30616549 (GRCh38)
21:31988868 (GRCh37)
Canonical SPDI:: NC_000021.9:30616548:G:A
Gene:: KRTAP20-1 (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_000021.9:g.30616549G>A, NC_000021.8:g.31988868G>A, NM_181615.2:c.95G>A, NM_181615.1:c.95G>A, NP_853646.1:p.Gly32Asp

Select item 136587848712.

rs1365878487 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 21:30616496 (GRCh38)
21:31988815 (GRCh37)
Canonical SPDI:: NC_000021.9:30616495:T:A
Gene:: KRTAP20-1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000021.9:g.30616496T>A, NC_000021.8:g.31988815T>A, NM_181615.2:c.42T>A, NM_181615.1:c.42T>A

Select item 136436569813.

rs1364365698 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:30616462 (GRCh38)
21:31988781 (GRCh37)
Canonical SPDI:: NC_000021.9:30616461:A:G
Gene:: KRTAP20-1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000021.9:g.30616462A>G, NC_000021.8:g.31988781A>G, NM_181615.2:c.8A>G, NM_181615.1:c.8A>G, NP_853646.1:p.Tyr3Cys

Select item 135865043614.

rs1358650436 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:30616577 (GRCh38)
21:31988896 (GRCh37)
Canonical SPDI:: NC_000021.9:30616576:C:G
Gene:: KRTAP20-1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.30616577C>G, NC_000021.8:g.31988896C>G, NM_181615.2:c.123C>G, NM_181615.1:c.123C>G, NP_853646.1:p.Tyr41Ter

Select item 134980726715.

rs1349807267 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:30616458 (GRCh38)
21:31988777 (GRCh37)
Canonical SPDI:: NC_000021.9:30616457:A:G
Gene:: KRTAP20-1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000021.9:g.30616458A>G, NC_000021.8:g.31988777A>G, NM_181615.2:c.4A>G, NM_181615.1:c.4A>G, NP_853646.1:p.Ile2Val

Select item 134700980916.

rs1347009809 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:30616507 (GRCh38)
21:31988826 (GRCh37)
Canonical SPDI:: NC_000021.9:30616506:G:C
Gene:: KRTAP20-1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.30616507G>C, NC_000021.8:g.31988826G>C, NM_181615.2:c.53G>C, NM_181615.1:c.53G>C, NP_853646.1:p.Cys18Ser

Select item 133974739417.

rs1339747394 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 21:30616651 (GRCh38)
21:31988970 (GRCh37)
Canonical SPDI:: NC_000021.9:30616650:T:A,NC_000021.9:30616650:T:C
Gene:: KRTAP20-1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: C=0./0 (KOREAN)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.30616651T>A, NC_000021.9:g.30616651T>C, NC_000021.8:g.31988970T>A, NC_000021.8:g.31988970T>C, NM_181615.2:c.*26T>A, NM_181615.2:c.*26T>C

Select item 132801640418.

rs1328016404 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 21:30616663 (GRCh38)
21:31988982 (GRCh37)
Canonical SPDI:: NC_000021.9:30616662:A:T
Gene:: KRTAP20-1 (Varview)
Functional Consequence:: 3_prime_UTR_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_000021.9:g.30616663A>T, NC_000021.8:g.31988982A>T, NM_181615.2:c.*38A>T

Select item 132500680219.

rs1325006802 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 21:30616436 (GRCh38)
21:31988755 (GRCh37)
Canonical SPDI:: NC_000021.9:30616435:A:C
Gene:: KRTAP20-1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.30616436A>C, NC_000021.8:g.31988755A>C, NM_181615.2:c.-19A>C

Select item 131712739520.

rs1317127395 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 21:30616645 (GRCh38)
21:31988964 (GRCh37)
Canonical SPDI:: NC_000021.9:30616644:G:T
Gene:: KRTAP20-1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
HGVS:: NC_000021.9:g.30616645G>T, NC_000021.8:g.31988964G>T, NM_181615.2:c.*20G>T

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