SNP Links for Gene (Select 83899) - SNP

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Items: 1 to 20 of 989

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Select item 14909591481.

rs1490959148 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:41225067 (GRCh38)
17:39381319 (GRCh37)
Canonical SPDI:: NC_000017.11:41225066:C:A
Gene:: KRTAP9-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000034/9 (TOPMED)
HGVS:: NC_000017.11:g.41225067C>A, NC_000017.10:g.39381319C>A, NW_025791801.1:g.175261C>A, NW_003871093.1:g.70694G>T

Select item 14903382662.

rs1490338266 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:41226401 (GRCh38)
17:39382653 (GRCh37)
Canonical SPDI:: NC_000017.11:41226400:T:C
Gene:: KRTAP9-2 (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_000017.11:g.41226401T>C, NC_000017.10:g.39382653T>C, NW_025791801.1:g.176595T>C

Select item 14898167693.

rs1489816769 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 17:41225912 (GRCh38)
17:39382164 (GRCh37)
Canonical SPDI:: NC_000017.11:41225911:TT:T
Gene:: KRTAP9-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000318/5 (TOMMO)
HGVS:: NC_000017.11:g.41225913del, NC_000017.10:g.39382165del, NW_025791801.1:g.176107del

Select item 14888012884.

rs1488801288 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 17:41224881 (GRCh38)
17:39381133 (GRCh37)
Canonical SPDI:: NC_000017.11:41224880:G:C,NC_000017.11:41224880:G:T
Gene:: KRTAP9-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000122/2 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
C=0.005/3 (NorthernSweden)
HGVS:: NC_000017.11:g.41224881G>C, NC_000017.11:g.41224881G>T, NC_000017.10:g.39381133G>C, NC_000017.10:g.39381133G>T, NW_025791801.1:g.175075G>C, NW_025791801.1:g.175075G>T, NW_003871093.1:g.70880C>G, NW_003871093.1:g.70880C>A

Select item 14879223815.

rs1487922381 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:41227297 (GRCh38)
17:39383549 (GRCh37)
Canonical SPDI:: NC_000017.11:41227296:T:C
Gene:: KRTAP9-2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00004/1 (TOMMO)
C=0.0007/2 (KOREAN)
HGVS:: NC_000017.11:g.41227297T>C, NC_000017.10:g.39383549T>C, NW_025791801.1:g.177479T>C, NW_003871092.1:g.69491A>G, NM_031961.3:c.*118T>C, NM_031961.2:c.*118T>C

Select item 14878725566.

rs1487872556 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:41226135 (GRCh38)
17:39382387 (GRCh37)
Canonical SPDI:: NC_000017.11:41226134:G:A,NC_000017.11:41226134:G:C
Gene:: KRTAP9-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.41226135G>A, NC_000017.11:g.41226135G>C, NC_000017.10:g.39382387G>A, NC_000017.10:g.39382387G>C, NW_025791801.1:g.176329G>A, NW_025791801.1:g.176329G>C

Select item 14856338237.

rs1485633823 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:41224929 (GRCh38)
17:39381181 (GRCh37)
Canonical SPDI:: NC_000017.11:41224928:A:G
Gene:: KRTAP9-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.41224929A>G, NC_000017.10:g.39381181A>G, NW_025791801.1:g.175123A>G, NW_003871093.1:g.70832T>C

Select item 14845948508.

rs1484594850 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:41227398 (GRCh38)
17:39383650 (GRCh37)
Canonical SPDI:: NC_000017.11:41227397:G:T
Gene:: KRTAP9-2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.00025/3 (ALFA)
T=0.00011/1 (GnomAD)
HGVS:: NC_000017.11:g.41227398G>T, NC_000017.10:g.39383650G>T, NW_025791801.1:g.177580G>T, NW_003871092.1:g.69390C>A, NM_031961.3:c.*219G>T, NM_031961.2:c.*219G>T

Select item 14844998289.

rs1484499828 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:41226672 (GRCh38)
17:39382924 (GRCh37)
Canonical SPDI:: NC_000017.11:41226671:C:T
Gene:: KRTAP9-2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000048/1 (ALFA)
T=0.00002/5 (GnomAD_exomes)
HGVS:: NC_000017.11:g.41226672C>T, NC_000017.10:g.39382924C>T, NW_025791801.1:g.176866C>T, NW_003871092.1:g.70116G>A, NM_031961.3:c.18C>T, NM_031961.2:c.18C>T

Select item 148313211810.

rs1483132118 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:41226629 (GRCh38)
17:39382881 (GRCh37)
Canonical SPDI:: NC_000017.11:41226628:G:A,NC_000017.11:41226628:G:T
Gene:: KRTAP9-2 (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)
HGVS:: NC_000017.11:g.41226629G>A, NC_000017.11:g.41226629G>T, NC_000017.10:g.39382881G>A, NC_000017.10:g.39382881G>T, NW_025791801.1:g.176823G>A, NW_025791801.1:g.176823G>T, NW_003871092.1:g.70159C>T, NW_003871092.1:g.70159C>A

Select item 148251903611.

rs1482519036 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:41227686 (GRCh38)
17:39383938 (GRCh37)
Canonical SPDI:: NC_000017.11:41227685:A:C
Gene:: KRTAP9-2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00002/1 (GnomAD)
HGVS:: NC_000017.11:g.41227686A>C, NC_000017.10:g.39383938A>C, NW_025791801.1:g.177868A>C, NW_003871092.1:g.69102T>G

Select item 148212956612.

rs1482129566 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 17:41225853 (GRCh38)
17:39382105 (GRCh37)
Canonical SPDI:: NC_000017.11:41225852:G:A,NC_000017.11:41225852:G:C,NC_000017.11:41225852:G:T
Gene:: KRTAP9-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
T=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.41225853G>A, NC_000017.11:g.41225853G>C, NC_000017.11:g.41225853G>T, NC_000017.10:g.39382105G>A, NC_000017.10:g.39382105G>C, NC_000017.10:g.39382105G>T, NW_025791801.1:g.176047G>A, NW_025791801.1:g.176047G>C, NW_025791801.1:g.176047G>T, NW_003871093.1:g.69908C>T, NW_003871093.1:g.69908C>G, NW_003871093.1:g.69908C>A

Select item 148136302513.

rs1481363025 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:41227223 (GRCh38)
17:39383475 (GRCh37)
Canonical SPDI:: NC_000017.11:41227222:C:T
Gene:: KRTAP9-2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.41227223C>T, NC_000017.10:g.39383475C>T, NW_025791801.1:g.177405C>T, NW_003871092.1:g.69565G>A, NM_031961.3:c.*44C>T, NM_031961.2:c.*44C>T

Select item 148128748114.

rs1481287481 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:41225174 (GRCh38)
17:39381426 (GRCh37)
Canonical SPDI:: NC_000017.11:41225173:A:C
Gene:: KRTAP9-2 (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_000017.11:g.41225174A>C, NC_000017.10:g.39381426A>C, NW_025791801.1:g.175368A>C, NW_003871093.1:g.70587T>G

Select item 148053391415.

rs1480533914 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:41224680 (GRCh38)
17:39380932 (GRCh37)
Canonical SPDI:: NC_000017.11:41224679:C:G
Gene:: KRTAP9-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000342/1 (KOREAN)
HGVS:: NC_000017.11:g.41224680C>G, NC_000017.10:g.39380932C>G, NW_025791801.1:g.174874C>G, NW_003871093.1:g.71081G>C

Select item 148037777116.

rs1480377771 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:41227013 (GRCh38)
17:39383265 (GRCh37)
Canonical SPDI:: NC_000017.11:41227012:G:C
Gene:: KRTAP9-2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.41227013G>C, NC_000017.10:g.39383265G>C, NW_025791801.1:g.177207G>C, NW_003871092.1:g.69775C>G, NM_031961.3:c.359G>C, NM_031961.2:c.359G>C, NP_114167.2:p.Cys120Ser

Select item 148036148517.

rs1480361485 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:41226489 (GRCh38)
17:39382741 (GRCh37)
Canonical SPDI:: NC_000017.11:41226488:A:T
Gene:: KRTAP9-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.41226489A>T, NC_000017.10:g.39382741A>T, NW_025791801.1:g.176683A>T, NW_003871092.1:g.70299T>A

Select item 147745499318.

rs1477454993 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:41225883 (GRCh38)
17:39382135 (GRCh37)
Canonical SPDI:: NC_000017.11:41225882:T:G
Gene:: KRTAP9-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.41225883T>G, NC_000017.10:g.39382135T>G, NW_025791801.1:g.176077T>G

Select item 147740437919.

rs1477404379 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:41227380 (GRCh38)
17:39383632 (GRCh37)
Canonical SPDI:: NC_000017.11:41227379:C:T
Gene:: KRTAP9-2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.41227380C>T, NC_000017.10:g.39383632C>T, NW_025791801.1:g.177562C>T, NW_003871092.1:g.69408G>A, NM_031961.3:c.*201C>T, NM_031961.2:c.*201C>T

Select item 147476621120.

rs1474766211 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:41227455 (GRCh38)
17:39383707 (GRCh37)
Canonical SPDI:: NC_000017.11:41227454:C:G
Gene:: KRTAP9-2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.01054/125 (ALFA)
G=0.00031/2 (1000Genomes)
HGVS:: NC_000017.11:g.41227455C>G, NC_000017.10:g.39383707C>G, NW_025791801.1:g.177637C>G, NW_003871092.1:g.69333G>C, NM_031961.3:c.*276C>G, NM_031961.2:c.*276C>G

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