SNP Links for Gene (Select 337966) - SNP

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Items: 1 to 20 of 589

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Select item 14909917471.

rs1490991747 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 21:30615261 (GRCh38)
21:31987580 (GRCh37)
Canonical SPDI:: NC_000021.9:30615260:A:C
Gene:: KRTAP6-1 (Varview), KRTAP20-1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.30615261A>C, NC_000021.8:g.31987580A>C

Select item 14906023632.

rs1490602363 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:30613783 (GRCh38)
21:31986102 (GRCh37)
Canonical SPDI:: NC_000021.9:30613782:C:T
Gene:: KRTAP6-1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000021.9:g.30613783C>T, NC_000021.8:g.31986102C>T, NM_181602.2:c.122G>A, NM_181602.1:c.122G>A, NP_853633.1:p.Gly41Asp

Select item 14904079963.

rs1490407996 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 21:30614686 (GRCh38)
21:31987006 (GRCh37)
Canonical SPDI:: NC_000021.9:30614686:T:TT
Gene:: KRTAP6-1 (Varview), KRTAP20-1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000021.9:g.30614687dup, NC_000021.8:g.31987006dup

Select item 14900864604.

rs1490086460 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:30613714 (GRCh38)
21:31986033 (GRCh37)
Canonical SPDI:: NC_000021.9:30613713:C:A
Gene:: KRTAP6-1 (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.30613714C>A, NC_000021.8:g.31986033C>A, NM_181602.2:c.191G>T, NM_181602.1:c.191G>T, NP_853633.1:p.Gly64Val

Select item 14889225915.

rs1488922591 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:30614121 (GRCh38)
21:31986440 (GRCh37)
Canonical SPDI:: NC_000021.9:30614120:G:A
Gene:: KRTAP6-1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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.30614121G>A, NC_000021.8:g.31986440G>A

Select item 14857541706.

rs1485754170 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 21:30614875 (GRCh38)
21:31987194 (GRCh37)
Canonical SPDI:: NC_000021.9:30614874:T:
Gene:: KRTAP6-1 (Varview), KRTAP20-1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000447/2 (ALFA)
-=0.000342/48 (GnomAD)
-=0.000446/2 (Estonian)
HGVS:: NC_000021.9:g.30614875del, NC_000021.8:g.31987194del

Select item 14848431967.

rs1484843196 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 21:30614865 (GRCh38)
21:31987184 (GRCh37)
Canonical SPDI:: NC_000021.9:30614864:T:A
Gene:: KRTAP6-1 (Varview), KRTAP20-1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.00017/2 (ALFA)
HGVS:: NC_000021.9:g.30614865T>A, NC_000021.8:g.31987184T>A

Select item 14805371778.

rs1480537177 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:30613841 (GRCh38)
21:31986160 (GRCh37)
Canonical SPDI:: NC_000021.9:30613840:C:T
Gene:: KRTAP6-1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.30613841C>T, NC_000021.8:g.31986160C>T, NM_181602.2:c.64G>A, NM_181602.1:c.64G>A, NP_853633.1:p.Gly22Ser

Select item 14760461079.

rs1476046107 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:30615548 (GRCh38)
21:31987867 (GRCh37)
Canonical SPDI:: NC_000021.9:30615547:G:A
Gene:: KRTAP6-1 (Varview), KRTAP20-1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000021.9:g.30615548G>A, NC_000021.8:g.31987867G>A

Select item 147540373110.

rs1475403731 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:30614624 (GRCh38)
21:31986943 (GRCh37)
Canonical SPDI:: NC_000021.9:30614623:A:G
Gene:: KRTAP6-1 (Varview), KRTAP20-1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.30614624A>G, NC_000021.8:g.31986943A>G

Select item 147442240011.

rs1474422400 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:30615657 (GRCh38)
21:31987976 (GRCh37)
Canonical SPDI:: NC_000021.9:30615656:A:G
Gene:: KRTAP6-1 (Varview), KRTAP20-1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00015/21 (GnomAD)
HGVS:: NC_000021.9:g.30615657A>G, NC_000021.8:g.31987976A>G

Select item 147222427712.

rs1472224277 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:30614169 (GRCh38)
21:31986488 (GRCh37)
Canonical SPDI:: NC_000021.9:30614168:T:C
Gene:: KRTAP6-1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000021.9:g.30614169T>C, NC_000021.8:g.31986488T>C

Select item 146939050013.

rs1469390500 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:30614087 (GRCh38)
21:31986406 (GRCh37)
Canonical SPDI:: NC_000021.9:30614086:G:C
Gene:: KRTAP6-1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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.30614087G>C, NC_000021.8:g.31986406G>C

Select item 146799446014.

rs1467994460 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:30614323 (GRCh38)
21:31986642 (GRCh37)
Canonical SPDI:: NC_000021.9:30614322:C:T
Gene:: KRTAP6-1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000021.9:g.30614323C>T, NC_000021.8:g.31986642C>T

Select item 146703180715.

rs1467031807 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:30615085 (GRCh38)
21:31987404 (GRCh37)
Canonical SPDI:: NC_000021.9:30615084:A:G
Gene:: KRTAP6-1 (Varview), KRTAP20-1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.0002/1 (ALFA)
G=0.0002/1 (Estonian)
HGVS:: NC_000021.9:g.30615085A>G, NC_000021.8:g.31987404A>G

Select item 146273197616.

rs1462731976 has merged into rs966420001 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 21:30614414 (GRCh38)
21:31986733 (GRCh37)
Canonical SPDI:: NC_000021.9:30614413:TTTT:TTT,NC_000021.9:30614413:TTTT:TTTTT
Gene:: KRTAP6-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
-=0.000029/4 (GnomAD)
HGVS:: NC_000021.9:g.30614417del, NC_000021.9:g.30614417dup, NC_000021.8:g.31986736del, NC_000021.8:g.31986736dup

Select item 146243704317.

rs1462437043 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:30614982 (GRCh38)
21:31987301 (GRCh37)
Canonical SPDI:: NC_000021.9:30614981:C:T
Gene:: KRTAP6-1 (Varview), KRTAP20-1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.30614982C>T, NC_000021.8:g.31987301C>T

Select item 146233515518.

rs1462335155 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:30613870 (GRCh38)
21:31986189 (GRCh37)
Canonical SPDI:: NC_000021.9:30613869:G:A
Gene:: KRTAP6-1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.30613870G>A, NC_000021.8:g.31986189G>A, NM_181602.2:c.35C>T, NM_181602.1:c.35C>T, NP_853633.1:p.Thr12Ile

Select item 146229976419.

rs1462299764 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 21:30613918 (GRCh38)
21:31986237 (GRCh37)
Canonical SPDI:: NC_000021.9:30613917:G:T
Gene:: KRTAP6-1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.30613918G>T, NC_000021.8:g.31986237G>T, NM_181602.2:c.-14C>A

Select item 146037491520.

rs1460374915 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:30615415 (GRCh38)
21:31987734 (GRCh37)
Canonical SPDI:: NC_000021.9:30615414:G:A
Gene:: KRTAP6-1 (Varview), KRTAP20-1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000021.9:g.30615415G>A, NC_000021.8:g.31987734G>A

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