SNP Links for Protein (Select 1187413611) - SNP

Links from Protein

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Select item 14692075611.

rs1469207561 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 21:30620709 (GRCh38)
21:31993028 (GRCh37)
Canonical SPDI:: NC_000021.9:30620708:G:C,NC_000021.9:30620708:G:T
Gene:: KRTAP20-4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
T=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.30620709G>C, NC_000021.9:g.30620709G>T, NC_000021.8:g.31993028G>C, NC_000021.8:g.31993028G>T, NR_023342.1:n.83G>C, NR_023342.1:n.83G>T, NM_001350977.1:c.52G>C, NM_001350977.1:c.52G>T, NP_001337906.1:p.Ala18Pro, NP_001337906.1:p.Ala18Ser

Select item 14681006442.

rs1468100644 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:30620789 (GRCh38)
21:31993108 (GRCh37)
Canonical SPDI:: NC_000021.9:30620788:G:A
Gene:: KRTAP20-4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.001119/5 (ALFA)
A=0.000021/3 (GnomAD)
A=0.001116/5 (Estonian)
HGVS:: NC_000021.9:g.30620789G>A, NC_000021.8:g.31993108G>A, NR_023342.1:n.163G>A, NM_001350977.1:c.132G>A

Select item 14490501383.

rs1449050138 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:30620688 (GRCh38)
21:31993007 (GRCh37)
Canonical SPDI:: NC_000021.9:30620687:C:T
Gene:: KRTAP20-4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.30620688C>T, NC_000021.8:g.31993007C>T, NR_023342.1:n.62C>T, NM_001350977.1:c.31C>T

Select item 14426893464.

rs1442689346 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:30620791 (GRCh38)
21:31993110 (GRCh37)
Canonical SPDI:: NC_000021.9:30620790:A:G
Gene:: KRTAP20-4 (Varview)
Functional Consequence:: synonymous_variant,terminator_codon_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.30620791A>G, NC_000021.8:g.31993110A>G, NR_023342.1:n.165A>G, NM_001350977.1:c.134A>G

Select item 14366624875.

rs1436662487 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:30620778 (GRCh38)
21:31993097 (GRCh37)
Canonical SPDI:: NC_000021.9:30620777:T:C
Gene:: KRTAP20-4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.30620778T>C, NC_000021.8:g.31993097T>C, NR_023342.1:n.152T>C, NM_001350977.1:c.121T>C, NP_001337906.1:p.Tyr41His

Select item 14327607016.

rs1432760701 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCAGGTGCAG>- [Show Flanks]
Chromosome:: 21:30620749 (GRCh38)
21:31993068 (GRCh37)
Canonical SPDI:: NC_000021.9:30620747:GGCAGGTGCAG:G
Gene:: KRTAP20-4 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.30620749_30620758del, NC_000021.8:g.31993068_31993077del, NR_023342.1:n.123_132del, NM_001350977.1:c.92_101del, NP_001337906.1:p.Gly31fs

Select item 14193301597.

rs1419330159 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 21:30620761 (GRCh38)
21:31993080 (GRCh37)
Canonical SPDI:: NC_000021.9:30620760:AT:
Gene:: KRTAP20-4 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.30620761_30620762del, NC_000021.8:g.31993080_31993081del, NR_023342.1:n.135_136del, NM_001350977.1:c.104_105del, NP_001337906.1:p.His35fs

Select item 14167020218.

rs1416702021 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 21:30620718 (GRCh38)
21:31993037 (GRCh37)
Canonical SPDI:: NC_000021.9:30620717:A:C
Gene:: KRTAP20-4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.30620718A>C, NC_000021.8:g.31993037A>C, NR_023342.1:n.92A>C, NM_001350977.1:c.61A>C, NP_001337906.1:p.Met21Leu

Select item 14057588839.

rs1405758883 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:30620732 (GRCh38)
21:31993051 (GRCh37)
Canonical SPDI:: NC_000021.9:30620731:G:A
Gene:: KRTAP20-4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.30620732G>A, NC_000021.8:g.31993051G>A, NR_023342.1:n.106G>A, NM_001350977.1:c.75G>A

Select item 136602901910.

rs1366029019 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGGCTG>- [Show Flanks]
Chromosome:: 21:30620737 (GRCh38)
21:31993056 (GRCh37)
Canonical SPDI:: NC_000021.9:30620727:CTGTGGCTGTGGCTG:CTGTGGCTG
Gene:: KRTAP20-4 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTGTGGCTG=0.000071/1 (ALFA)
-=0.000013/2 (GnomAD_exomes)
-=0.000021/3 (GnomAD)
-=0.00003/8 (TOPMED)
HGVS:: NC_000021.9:g.30620731TGGCTG[1], NC_000021.8:g.31993050TGGCTG[1], NR_023342.1:n.105TGGCTG[1], NM_001350977.1:c.74TGGCTG[1], NP_001337906.1:p.25VA[1]

Select item 136510823211.

rs1365108232 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:30620782 (GRCh38)
21:31993101 (GRCh37)
Canonical SPDI:: NC_000021.9:30620781:C:T
Gene:: KRTAP20-4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.30620782C>T, NC_000021.8:g.31993101C>T, NR_023342.1:n.156C>T, NM_001350977.1:c.125C>T, NP_001337906.1:p.Ser42Phe

Select item 136152332212.

rs1361523322 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:30620704 (GRCh38)
21:31993023 (GRCh37)
Canonical SPDI:: NC_000021.9:30620703:C:T
Gene:: KRTAP20-4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000085/3 (ALFA)
T=0.000007/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.30620704C>T, NC_000021.8:g.31993023C>T, NR_023342.1:n.78C>T, NM_001350977.1:c.47C>T, NP_001337906.1:p.Ala16Val

Select item 134808482413.

rs1348084824 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 21:30620719 (GRCh38)
21:31993038 (GRCh37)
Canonical SPDI:: NC_000021.9:30620718:T:A
Gene:: KRTAP20-4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.30620719T>A, NC_000021.8:g.31993038T>A, NR_023342.1:n.93T>A, NM_001350977.1:c.62T>A, NP_001337906.1:p.Met21Lys

Select item 133401701314.

rs1334017013 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:30620741 (GRCh38)
21:31993060 (GRCh37)
Canonical SPDI:: NC_000021.9:30620740:T:C
Gene:: KRTAP20-4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.30620741T>C, NC_000021.8:g.31993060T>C, NR_023342.1:n.115T>C, NM_001350977.1:c.84T>C

Select item 129147168115.

rs1291471681 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 21:30620761 (GRCh38)
21:31993080 (GRCh37)
Canonical SPDI:: NC_000021.9:30620760:A:T
Gene:: KRTAP20-4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000021.9:g.30620761A>T, NC_000021.8:g.31993080A>T, NR_023342.1:n.135A>T, NM_001350977.1:c.104A>T, NP_001337906.1:p.His35Leu

Select item 128941330816.

rs1289413308 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:30620747 (GRCh38)
21:31993066 (GRCh37)
Canonical SPDI:: NC_000021.9:30620746:T:C
Gene:: KRTAP20-4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000021.9:g.30620747T>C, NC_000021.8:g.31993066T>C, NR_023342.1:n.121T>C, NM_001350977.1:c.90T>C

Select item 128561323017.

rs1285613230 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:30620676 (GRCh38)
21:31992995 (GRCh37)
Canonical SPDI:: NC_000021.9:30620675:C:T
Gene:: KRTAP20-4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.30620676C>T, NC_000021.8:g.31992995C>T, NR_023342.1:n.50C>T, NM_001350977.1:c.19C>T, NP_001337906.1:p.Leu7Phe

Select item 128427310518.

rs1284273105 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:30620715 (GRCh38)
21:31993034 (GRCh37)
Canonical SPDI:: NC_000021.9:30620714:A:G
Gene:: KRTAP20-4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
G=0.004367/8 (Korea1K)
HGVS:: NC_000021.9:g.30620715A>G, NC_000021.8:g.31993034A>G, NR_023342.1:n.89A>G, NM_001350977.1:c.58A>G, NP_001337906.1:p.Thr20Ala

Select item 128058171019.

rs1280581710 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:30620753 (GRCh38)
21:31993072 (GRCh37)
Canonical SPDI:: NC_000021.9:30620752:G:A
Gene:: KRTAP20-4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000021.9:g.30620753G>A, NC_000021.8:g.31993072G>A, NR_023342.1:n.127G>A, NM_001350977.1:c.96G>A

Select item 125371466720.

rs1253714667 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 21:30620684 (GRCh38)
21:31993003 (GRCh37)
Canonical SPDI:: NC_000021.9:30620683:T:A
Gene:: KRTAP20-4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.30620684T>A, NC_000021.8:g.31993003T>A, NR_023342.1:n.58T>A, NM_001350977.1:c.27T>A

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