SNP Links for Gene (Select 81850) - SNP

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Select item 14915788641.

rs1491578864 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:41035763 (GRCh38)
17:39192015 (GRCh37)
Canonical SPDI:: NC_000017.11:41035762:CT:
Gene:: KRTAP1-3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.41035763_41035764del, NC_000017.10:g.39192015_39192016del, NW_003871091.1:g.185156_185157del

Select item 14915417822.

rs1491541782 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCTT,TCTTTCTT,TCTTTCTTTCTT [Show Flanks]
Chromosome:: 17:41035786 (GRCh38)
17:39192039 (GRCh37)
Canonical SPDI:: NC_000017.11:41035786:CTT:CTTTCTT,NC_000017.11:41035786:CTT:CTTTCTTTCTT,NC_000017.11:41035786:CTT:CTTTCTTTCTTTCTT
Gene:: KRTAP1-3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CTTTCTTTCTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.41035789_41035790insTCTT, NC_000017.11:g.41035789_41035790insTCTTTCTT, NC_000017.11:g.41035790TCTT[3], NC_000017.10:g.39192041_39192042insTCTT, NC_000017.10:g.39192041_39192042insTCTTTCTT, NC_000017.10:g.39192042TCTT[3], NW_003871091.1:g.185182_185183insTCTT, NW_003871091.1:g.185182_185183insTCTTTCTT, NW_003871091.1:g.185183TCTT[3]

Select item 14914749903.

rs1491474990 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 17:41035786 (GRCh38)
17:39192038 (GRCh37)
Canonical SPDI:: NC_000017.11:41035785:CC:
Gene:: KRTAP1-3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.00507/521 (GnomAD)
HGVS:: NC_000017.11:g.41035786_41035787del, NC_000017.10:g.39192038_39192039del, NW_003871091.1:g.185179_185180del

Select item 14914557774.

rs1491455777 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCTT,TCTTTCTT,TCTTTCTTTCTT [Show Flanks]
Chromosome:: 17:41035782 (GRCh38)
17:39192035 (GRCh37)
Canonical SPDI:: NC_000017.11:41035782:CTT:CTTTCTT,NC_000017.11:41035782:CTT:CTTTCTTTCTT,NC_000017.11:41035782:CTT:CTTTCTTTCTTTCTT
Gene:: KRTAP1-3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CTTTCTTTCTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.41035785_41035786insTCTT, NC_000017.11:g.41035785_41035786insTCTTTCTT, NC_000017.11:g.41035786TCTT[3], NC_000017.10:g.39192037_39192038insTCTT, NC_000017.10:g.39192037_39192038insTCTTTCTT, NC_000017.10:g.39192038TCTT[3], NW_003871091.1:g.185178_185179insTCTT, NW_003871091.1:g.185178_185179insTCTTTCTT, NW_003871091.1:g.185179TCTT[3]

Select item 14914487535.

rs1491448753 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT [Show Flanks]
Chromosome:: 17:41035683 (GRCh38)
17:39191935 (GRCh37)
Canonical SPDI:: NC_000017.11:41035681:TCT:T,NC_000017.11:41035681:TCT:TCTCT
Gene:: KRTAP1-3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TCTCT=0./0 (ALFA)
HGVS:: NC_000017.11:g.41035683_41035684del, NC_000017.11:g.41035683_41035684dup, NC_000017.10:g.39191935_39191936del, NC_000017.10:g.39191935_39191936dup, NW_003871091.1:g.185078_185079del, NW_003871091.1:g.185078_185079dup

Select item 14914291936.

rs1491429193 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 17:41035782 (GRCh38)
17:39192034 (GRCh37)
Canonical SPDI:: NC_000017.11:41035781:CC:
Gene:: KRTAP1-3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.0034/331 (GnomAD)
-=0.00547/35 (1000Genomes)
HGVS:: NC_000017.11:g.41035782_41035783del, NC_000017.10:g.39192034_39192035del, NW_003871091.1:g.185175_185176del

Select item 14913789397.

rs1491378939 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACTT,TCTT,TCTTTCTT,TCTTTCTTTCTT,TCTTTCTTTCTTTCTT [Show Flanks]
Chromosome:: 17:41035790 (GRCh38)
17:39192043 (GRCh37)
Canonical SPDI:: NC_000017.11:41035790:CTT:CTTACTT,NC_000017.11:41035790:CTT:CTTTCTT,NC_000017.11:41035790:CTT:CTTTCTTTCTT,NC_000017.11:41035790:CTT:CTTTCTTTCTTTCTT,NC_000017.11:41035790:CTT:CTTTCTTTCTTTCTTTCTT
Gene:: KRTAP1-3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CTTTCTT=0./0 (ALFA)
CTTT=0.00001/1 (GnomAD)
HGVS:: NC_000017.11:g.41035793_41035794insACTT, NC_000017.11:g.41035793_41035794insTCTT, NC_000017.11:g.41035793_41035794insTCTTTCTT, NC_000017.11:g.41035794TCTT[3], NC_000017.11:g.41035794TCTT[4], NC_000017.10:g.39192045_39192046insACTT, NC_000017.10:g.39192045_39192046insTCTT, NC_000017.10:g.39192045_39192046insTCTTTCTT, NC_000017.10:g.39192046TCTT[3], NC_000017.10:g.39192046TCTT[4], NW_003871091.1:g.185186_185187insACTT, NW_003871091.1:g.185186_185187insTCTT, NW_003871091.1:g.185186_185187insTCTTTCTT, NW_003871091.1:g.185187TCTT[3], NW_003871091.1:g.185187TCTT[4]

Select item 14913783998.

rs1491378399 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 17:41035794 (GRCh38)
17:39192046 (GRCh37)
Canonical SPDI:: NC_000017.11:41035793:CC:
Gene:: KRTAP1-3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.010753/18 (Korea1K)
-=0.012208/1307 (GnomAD)
-=0.016722/10 (NorthernSweden)
-=0.018939/316 (TOMMO)
HGVS:: NC_000017.11:g.41035794_41035795del, NC_000017.10:g.39192046_39192047del, NW_003871091.1:g.185187_185188del

Select item 14913419839.

rs1491341983 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCTT,TCTTTCTT,TCTTTCTTTCTT,TCTTTCTTTCTTTCTT,TCTTTCTTTCTTTCTTTCTT [Show Flanks]
Chromosome:: 17:41035794 (GRCh38)
17:39192047 (GRCh37)
Canonical SPDI:: NC_000017.11:41035794:CTT:CTTTCTT,NC_000017.11:41035794:CTT:CTTTCTTTCTT,NC_000017.11:41035794:CTT:CTTTCTTTCTTTCTT,NC_000017.11:41035794:CTT:CTTTCTTTCTTTCTTTCTT,NC_000017.11:41035794:CTT:CTTTCTTTCTTTCTTTCTTTCTT
Gene:: KRTAP1-3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CTTTCTTTCTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.41035797_41035798insTCTT, NC_000017.11:g.41035797_41035798insTCTTTCTT, NC_000017.11:g.41035798TCTT[3], NC_000017.11:g.41035798TCTT[4], NC_000017.11:g.41035798TCTT[5], NC_000017.10:g.39192049_39192050insTCTT, NC_000017.10:g.39192049_39192050insTCTTTCTT, NC_000017.10:g.39192050TCTT[3], NC_000017.10:g.39192050TCTT[4], NC_000017.10:g.39192050TCTT[5], NW_003871091.1:g.185188CTTT[13], NW_003871091.1:g.185188CTTT[14], NW_003871091.1:g.185188CTTT[15], NW_003871091.1:g.185188CTTT[16], NW_003871091.1:g.185188CTTT[17]

Select item 149133419210.

rs1491334192 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 17:41035790 (GRCh38)
17:39192042 (GRCh37)
Canonical SPDI:: NC_000017.11:41035789:CC:
Gene:: KRTAP1-3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.000671/11 (TOMMO)
-=0.003206/339 (GnomAD)
HGVS:: NC_000017.11:g.41035790_41035791del, NC_000017.10:g.39192042_39192043del, NW_003871091.1:g.185183_185184del

Select item 149132030711.

rs1491320307 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:41035720 (GRCh38)
17:39191972 (GRCh37)
Canonical SPDI:: NC_000017.11:41035719:CT:
Gene:: KRTAP1-3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00011/8 (GnomAD)
HGVS:: NC_000017.11:g.41035720_41035721del, NC_000017.10:g.39191972_39191973del, NW_003871091.1:g.185115_185116del

Select item 149130579012.

rs1491305790 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T,TCTTT,TCTTTCTTT,TCTTTCTTTCTTT,TCTTTCTTTCTTTCTTT,TCTTTCTTTCTTTCTTTCTTTCTTTTTTT,TCTTTCTTTCTTTCTTTTTTT,TCTTTCTTTCTTTTTTT,TCTTTCTTTTTTT,TCTTTCTTTTTTTT,TCTTTTTTT,TTTT,TTTTT [Show Flanks]
Chromosome:: 17:41035720 (GRCh38)
17:39191973 (GRCh37)
Canonical SPDI:: NC_000017.11:41035720:TT:TTT,NC_000017.11:41035720:TT:TTTCTTT,NC_000017.11:41035720:TT:TTTCTTTCTTT,NC_000017.11:41035720:TT:TTTCTTTCTTTCTTT,NC_000017.11:41035720:TT:TTTCTTTCTTTCTTTCTTT,NC_000017.11:41035720:TT:TTTCTTTCTTTCTTTCTTTCTTTCTTTTTTT,NC_000017.11:41035720:TT:TTTCTTTCTTTCTTTCTTTTTTT,NC_000017.11:41035720:TT:TTTCTTTCTTTCTTTTTTT,NC_000017.11:41035720:TT:TTTCTTTCTTTTTTT,NC_000017.11:41035720:TT:TTTCTTTCTTTTTTTT,NC_000017.11:41035720:TT:TTTCTTTTTTT,NC_000017.11:41035720:TT:TTTTTT,NC_000017.11:41035720:TT:TTTTTTT
Gene:: KRTAP1-3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.41035722dup, NC_000017.11:g.41035722_41035723insTCTTT, NC_000017.11:g.41035721_41035722TTTC[2]TTT[1], NC_000017.11:g.41035721_41035722TTTC[3]TTT[1], NC_000017.11:g.41035721_41035722TTTC[4]TTT[1], NC_000017.11:g.41035721_41035722TTTC[6]T[7], NC_000017.11:g.41035721_41035722TTTC[4]T[7], NC_000017.11:g.41035721_41035722TTTC[3]T[7], NC_000017.11:g.41035721_41035722TTTC[2]T[7], NC_000017.11:g.41035721_41035722TTTC[2]T[8], NC_000017.11:g.41035722_41035723insTCTTTTTTT, NC_000017.11:g.41035722_41035723insTTTT, NC_000017.11:g.41035722_41035723insTTTTT, NC_000017.10:g.39191974dup, NC_000017.10:g.39191974_39191975insTCTTT, NC_000017.10:g.39191973_39191974TTTC[2]TTT[1], NC_000017.10:g.39191973_39191974TTTC[3]TTT[1], NC_000017.10:g.39191973_39191974TTTC[4]TTT[1], NC_000017.10:g.39191973_39191974TTTC[6]T[7], NC_000017.10:g.39191973_39191974TTTC[4]T[7], NC_000017.10:g.39191973_39191974TTTC[3]T[7], NC_000017.10:g.39191973_39191974TTTC[2]T[7], NC_000017.10:g.39191973_39191974TTTC[2]T[8], NC_000017.10:g.39191974_39191975insTCTTTTTTT, NC_000017.10:g.39191974_39191975insTTTT, NC_000017.10:g.39191974_39191975insTTTTT, NW_003871091.1:g.185117dup, NW_003871091.1:g.185117_185118insTCTTT, NW_003871091.1:g.185116_185117TTTC[2]TTT[1], NW_003871091.1:g.185116_185117TTTC[3]TTT[1], NW_003871091.1:g.185116_185117TTTC[4]TTT[1], NW_003871091.1:g.185116_185117TTTC[6]T[7], NW_003871091.1:g.185116_185117TTTC[4]T[7], NW_003871091.1:g.185116_185117TTTC[3]T[7], NW_003871091.1:g.185116_185117TTTC[2]T[7], NW_003871091.1:g.185116_185117TTTC[2]T[8], NW_003871091.1:g.185117_185118insTCTTTTTTT, NW_003871091.1:g.185117_185118insTTTT, NW_003871091.1:g.185117_185118insTTTTT

Select item 149114081213.

rs1491140812 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->ACTTTCTTTCTTTCTTTCTT
Chromosome:: no mapping
Canonical SPDI:

Select item 149113045414.

rs1491130454 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T,TCTTT,TCTTTCTTT,TCTTTCTTTCTTT [Show Flanks]
Chromosome:: 17:41035763 (GRCh38)
17:39192016 (GRCh37)
Canonical SPDI:: NC_000017.11:41035763:TT:TTT,NC_000017.11:41035763:TT:TTTCTTT,NC_000017.11:41035763:TT:TTTCTTTCTTT,NC_000017.11:41035763:TT:TTTCTTTCTTTCTTT
Gene:: KRTAP1-3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTCTTT=0./0 (ALFA)
T=0.00167/1 (NorthernSweden)
HGVS:: NC_000017.11:g.41035765dup, NC_000017.11:g.41035765_41035766insTCTTT, NC_000017.11:g.41035764_41035765TTTC[2]TTT[1], NC_000017.11:g.41035764_41035765TTTC[3]TTT[1], NC_000017.10:g.39192017dup, NC_000017.10:g.39192017_39192018insTCTTT, NC_000017.10:g.39192016_39192017TTTC[2]TTT[1], NC_000017.10:g.39192016_39192017TTTC[3]TTT[1], NW_003871091.1:g.185158dup, NW_003871091.1:g.185158_185159insTCTTT, NW_003871091.1:g.185157_185158TTTC[2]TTT[1], NW_003871091.1:g.185157_185158TTTC[3]TTT[1]

Select item 149099947715.

rs1490999477 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:41034731 (GRCh38)
17:39190983 (GRCh37)
Canonical SPDI:: NC_000017.11:41034730:C:G
Gene:: KRTAP1-3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.41034731C>G, NC_000017.10:g.39190983C>G, NW_003871091.1:g.184126C>G, NM_030966.2:c.91G>C, NM_030966.1:c.91G>C, NP_112228.1:p.Glu31Gln

Select item 149099817716.

rs1490998177 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:41036476 (GRCh38)
17:39192728 (GRCh37)
Canonical SPDI:: NC_000017.11:41036475:A:G
Gene:: KRTAP1-3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.41036476A>G, NC_000017.10:g.39192728A>G, NW_003871091.1:g.185869A>G

Select item 149080124417.

rs1490801244 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:41033809 (GRCh38)
17:39190061 (GRCh37)
Canonical SPDI:: NC_000017.11:41033808:G:A
Gene:: KRTAP1-3 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.41033809G>A, NC_000017.10:g.39190061G>A, NW_003871091.1:g.183204G>A

Select item 149051287718.

rs1490512877 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 17:41034426 (GRCh38)
17:39190678 (GRCh37)
Canonical SPDI:: NC_000017.11:41034425:G:C,NC_000017.11:41034425:G:T
Gene:: KRTAP1-3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.41034426G>C, NC_000017.11:g.41034426G>T, NC_000017.10:g.39190678G>C, NC_000017.10:g.39190678G>T, NW_003871091.1:g.183821G>C, NW_003871091.1:g.183821G>T, NM_030966.2:c.396C>G, NM_030966.2:c.396C>A, NM_030966.1:c.396C>G, NM_030966.1:c.396C>A

Select item 149046011919.

rs1490460119 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:41035833 (GRCh38)
17:39192085 (GRCh37)
Canonical SPDI:: NC_000017.11:41035832:T:C
Gene:: KRTAP1-3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.41035833T>C, NC_000017.10:g.39192085T>C, NW_003871091.1:g.185226T>C

Select item 148865046020.

rs1488650460 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:41035707 (GRCh38)
17:39191959 (GRCh37)
Canonical SPDI:: NC_000017.11:41035706:C:T
Gene:: KRTAP1-3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00343/10 (KOREAN)
HGVS:: NC_000017.11:g.41035707C>T, NC_000017.10:g.39191959C>T, NW_003871091.1:g.185102C>T

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