SNP Links for Gene (Select 440050) - SNP

Links from Gene

Items: 1 to 20 of 932

<< First< Prev

Page of 47

Next >Last >>

Select item 14912154511.

rs1491215451 [Homo sapiens]

Variant type:: INS
Alleles:: ->AG [Show Flanks]
Chromosome:: 11:71527699 (GRCh38)
11:71238746 (GRCh37)
Canonical SPDI:: NC_000011.10:71527699::AG
Gene:: KRTAP5-7 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: AG=0.00526/45 (GnomAD)
AG=0.00752/124 (TOMMO)
HGVS:: NC_000011.10:g.71527699_71527700insAG, NC_000011.9:g.71238745_71238746insAG, NM_001012503.2:c.399_400insAG, NM_001012503.1:c.399_400insAG, NP_001012521.1:p.Gly135fs

Select item 14910445522.

rs1491044552 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCAG,CCAGTCCAGCTGCTGTAAGCCCTGCTGCTGCCAG [Show Flanks]
Chromosome:: 11:71527694 (GRCh38)
11:71238741 (GRCh37)
Canonical SPDI:: NC_000011.10:71527694:G:GCCAG,NC_000011.10:71527694:G:GCCAGTCCAGCTGCTGTAAGCCCTGCTGCTGCCAG
Gene:: KRTAP5-7 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: GCCAGTCCAGCTGCTGTAAGCCCTGCTGCTGCCA=0.000008/1 (GnomAD)
GCCA=0.000602/10 (TOMMO)
HGVS:: NC_000011.10:g.71527695_71527696insCCAG, NC_000011.10:g.71527695_71527696insCCAGTCCAGCTGCTGTAAGCCCTGCTGCTGCCAG, NC_000011.9:g.71238741_71238742insCCAG, NC_000011.9:g.71238741_71238742insCCAGTCCAGCTGCTGTAAGCCCTGCTGCTGCCAG, NM_001012503.2:c.395_396insCCAG, NM_001012503.2:c.395_396insCCAGTCCAGCTGCTGTAAGCCCTGCTGCTGCCAG, NM_001012503.1:c.395_396insCCAG, NM_001012503.1:c.395_396insCCAGTCCAGCTGCTGTAAGCCCTGCTGCTGCCAG, NP_001012521.1:p.Ser133fs, NP_001012521.1:p.Ser133fs

Select item 14909409863.

rs1490940986 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:71528276 (GRCh38)
11:71239322 (GRCh37)
Canonical SPDI:: NC_000011.10:71528275:C:G,NC_000011.10:71528275:C:T
Gene:: KRTAP5-7 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00055/1 (Korea1K)
HGVS:: NC_000011.10:g.71528276C>G, NC_000011.10:g.71528276C>T, NC_000011.9:g.71239322C>G, NC_000011.9:g.71239322C>T, NM_001012503.2:c.*478C>G, NM_001012503.2:c.*478C>T

Select item 14891104984.

rs1489110498 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:71526801 (GRCh38)
11:71237847 (GRCh37)
Canonical SPDI:: NC_000011.10:71526800:G:A
Gene:: KRTAP5-7 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.71526801G>A, NC_000011.9:g.71237847G>A

Select item 14886688995.

rs1488668899 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:71526658 (GRCh38)
11:71237704 (GRCh37)
Canonical SPDI:: NC_000011.10:71526657:C:G
Gene:: KRTAP5-7 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.71526658C>G, NC_000011.9:g.71237704C>G

Select item 14883124426.

rs1488312442 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:71526653 (GRCh38)
11:71237699 (GRCh37)
Canonical SPDI:: NC_000011.10:71526652:G:T
Gene:: KRTAP5-7 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000011.10:g.71526653G>T, NC_000011.9:g.71237699G>T

Select item 14880617777.

rs1488061777 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 11:71527613 (GRCh38)
11:71238659 (GRCh37)
Canonical SPDI:: NC_000011.10:71527611:CTC:C
Gene:: KRTAP5-7 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.71527613_71527614del, NC_000011.9:g.71238659_71238660del, NM_001012503.2:c.313_314del, NM_001012503.1:c.313_314del, NP_001012521.1:p.Ser105fs

Select item 14880200068.

rs1488020006 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:71525973 (GRCh38)
11:71237019 (GRCh37)
Canonical SPDI:: NC_000011.10:71525972:C:G,NC_000011.10:71525972:C:T
Gene:: KRTAP5-7 (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)
T=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.71525973C>G, NC_000011.10:g.71525973C>T, NC_000011.9:g.71237019C>G, NC_000011.9:g.71237019C>T

Select item 14871791599.

rs1487179159 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:71527042 (GRCh38)
11:71238088 (GRCh37)
Canonical SPDI:: NC_000011.10:71527041:G:A,NC_000011.10:71527041:G:C
Gene:: KRTAP5-7 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.71527042G>A, NC_000011.10:g.71527042G>C, NC_000011.9:g.71238088G>A, NC_000011.9:g.71238088G>C

Select item 148704094110.

rs1487040941 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:71526310 (GRCh38)
11:71237356 (GRCh37)
Canonical SPDI:: NC_000011.10:71526309:G:A
Gene:: KRTAP5-7 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.71526310G>A, NC_000011.9:g.71237356G>A

Select item 148651373011.

rs1486513730 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:71526318 (GRCh38)
11:71237364 (GRCh37)
Canonical SPDI:: NC_000011.10:71526317:G:A
Gene:: KRTAP5-7 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.71526318G>A, NC_000011.9:g.71237364G>A

Select item 148642038712.

rs1486420387 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:71528398 (GRCh38)
11:71239444 (GRCh37)
Canonical SPDI:: NC_000011.10:71528397:C:T
Gene:: KRTAP5-7 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.71528398C>T, NC_000011.9:g.71239444C>T, NM_001012503.2:c.*600C>T

Select item 148622448113.

rs1486224481 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:71525879 (GRCh38)
11:71236925 (GRCh37)
Canonical SPDI:: NC_000011.10:71525878:A:G
Gene:: KRTAP5-7 (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=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.71525879A>G, NC_000011.9:g.71236925A>G

Select item 148619542114.

rs1486195421 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:71527280 (GRCh38)
11:71238326 (GRCh37)
Canonical SPDI:: NC_000011.10:71527279:C:T
Gene:: KRTAP5-7 (Varview)
Functional Consequence:: 5_prime_UTR_variant
HGVS:: NC_000011.10:g.71527280C>T, NC_000011.9:g.71238326C>T, NM_001012503.2:c.-21C>T, NM_001012503.1:c.-21C>T

Select item 148531368115.

rs1485313681 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:71528568 (GRCh38)
11:71239614 (GRCh37)
Canonical SPDI:: NC_000011.10:71528567:C:G,NC_000011.10:71528567:C:T
Gene:: KRTAP5-7 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.71528568C>G, NC_000011.10:g.71528568C>T, NC_000011.9:g.71239614C>G, NC_000011.9:g.71239614C>T, NM_001012503.2:c.*770C>G, NM_001012503.2:c.*770C>T

Select item 148322207316.

rs1483222073 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:71527710 (GRCh38)
11:71238756 (GRCh37)
Canonical SPDI:: NC_000011.10:71527709:G:A
Gene:: KRTAP5-7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000278/35 (GnomAD)
A=0.007361/123 (TOMMO)
HGVS:: NC_000011.10:g.71527710G>A, NC_000011.9:g.71238756G>A, NM_001012503.2:c.410G>A, NM_001012503.1:c.410G>A, NP_001012521.1:p.Gly137Glu

Select item 148249994817.

rs1482499948 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:71526754 (GRCh38)
11:71237800 (GRCh37)
Canonical SPDI:: NC_000011.10:71526753:A:G
Gene:: KRTAP5-7 (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)
HGVS:: NC_000011.10:g.71526754A>G, NC_000011.9:g.71237800A>G

Select item 148193890918.

rs1481938909 [Homo sapiens]

Variant type:: DEL
Alleles:: GGCGGAT>- [Show Flanks]
Chromosome:: 11:71526534 (GRCh38)
11:71237580 (GRCh37)
Canonical SPDI:: NC_000011.10:71526533:GGCGGAT:
Gene:: KRTAP5-7 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000169/2 (ALFA)
-=0.00003/8 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000011.10:g.71526534_71526540del, NC_000011.9:g.71237580_71237586del

Select item 148167013319.

rs1481670133 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:71528377 (GRCh38)
11:71239423 (GRCh37)
Canonical SPDI:: NC_000011.10:71528376:C:T
Gene:: KRTAP5-7 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.71528377C>T, NC_000011.9:g.71239423C>T, NM_001012503.2:c.*579C>T

Select item 148154997320.

rs1481549973 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:71527644 (GRCh38)
11:71238690 (GRCh37)
Canonical SPDI:: NC_000011.10:71527643:G:T
Gene:: KRTAP5-7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000493/124 (GnomAD_exomes)
HGVS:: NC_000011.10:g.71527644G>T, NC_000011.9:g.71238690G>T, NM_001012503.2:c.344G>T, NM_001012503.1:c.344G>T, NP_001012521.1:p.Ser115Ile

dbSNP

Result Filters

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 932

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity