SNP Links for Gene (Select 390792) - SNP

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Select item 14914827451.

rs1491482745 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:40965203 (GRCh38)
17:39121455 (GRCh37)
Canonical SPDI:: NC_000017.11:40965202:CA:
Gene:: KRT39 (Varview), LOC107985072 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.40965203_40965204del, NC_000017.10:g.39121455_39121456del, NG_012415.1:g.6689_6690del, NW_003871091.1:g.114598_114599del

Select item 14914524832.

rs1491452483 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:40958876 (GRCh38)
17:39115128 (GRCh37)
Canonical SPDI:: NC_000017.11:40958872:ACACA:ACA
Gene:: KRT39 (Varview), LOC107985072 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000014/3 (GnomAD_exomes)
-=0.000017/2 (ExAC)
HGVS:: NC_000017.11:g.40958874CA[1], NC_000017.10:g.39115126CA[1], NG_012415.1:g.13017GT[1], NW_003871091.1:g.108269CA[1]

Select item 14913276073.

rs1491327607 has merged into rs72433921 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 17:40965215 (GRCh38)
17:39121467 (GRCh37)
Canonical SPDI:: NC_000017.11:40965203:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:40965203:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:40965203:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:40965203:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:40965203:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:40965203:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: KRT39 (Varview), LOC107985072 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.12506/482 (ALSPAC)
-=0.45168/2262 (1000Genomes)
HGVS:: NC_000017.11:g.40965215_40965218del, NC_000017.11:g.40965216_40965218del, NC_000017.11:g.40965217_40965218del, NC_000017.11:g.40965218del, NC_000017.11:g.40965218dup, NC_000017.11:g.40965217_40965218dup, NC_000017.10:g.39121467_39121470del, NC_000017.10:g.39121468_39121470del, NC_000017.10:g.39121469_39121470del, NC_000017.10:g.39121470del, NC_000017.10:g.39121470dup, NC_000017.10:g.39121469_39121470dup, NG_012415.1:g.6686_6689del, NG_012415.1:g.6687_6689del, NG_012415.1:g.6688_6689del, NG_012415.1:g.6689del, NG_012415.1:g.6689dup, NG_012415.1:g.6688_6689dup, NW_003871091.1:g.114610_114613del, NW_003871091.1:g.114611_114613del, NW_003871091.1:g.114612_114613del, NW_003871091.1:g.114613del, NW_003871091.1:g.114613dup, NW_003871091.1:g.114612_114613dup

Select item 14910422914.

rs1491042291 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 17:40964769 (GRCh38)
17:39121021 (GRCh37)
Canonical SPDI:: NC_000017.11:40964767:TGT:T
Gene:: KRT39 (Varview), LOC107985072 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.00001/1 (GnomAD)
HGVS:: NC_000017.11:g.40964769_40964770del, NC_000017.10:g.39121021_39121022del, NG_012415.1:g.7124_7125del, NW_003871091.1:g.114164_114165del

Select item 14901143065.

rs1490114306 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:40964838 (GRCh38)
17:39121090 (GRCh37)
Canonical SPDI:: NC_000017.11:40964837:G:A
Gene:: KRT39 (Varview), LOC107985072 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.40964838G>A, NC_000017.10:g.39121090G>A, NG_012415.1:g.7055C>T, NW_003871091.1:g.114233G>A

Select item 14901082576.

rs1490108257 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:40963648 (GRCh38)
17:39119900 (GRCh37)
Canonical SPDI:: NC_000017.11:40963647:G:A
Gene:: KRT39 (Varview), LOC107985072 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.40963648G>A, NC_000017.10:g.39119900G>A, NG_012415.1:g.8245C>T, NM_213656.4:c.687C>T, NM_213656.3:c.687C>T, NW_003871091.1:g.113043G>A

Select item 14894692827.

rs1489469282 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:40960486 (GRCh38)
17:39116738 (GRCh37)
Canonical SPDI:: NC_000017.11:40960485:A:G
Gene:: KRT39 (Varview), LOC107985072 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.40960486A>G, NC_000017.10:g.39116738A>G, NG_012415.1:g.11407T>C, NM_213656.4:c.1012T>C, NM_213656.3:c.1012T>C, NW_003871091.1:g.109881A>G, NP_998821.3:p.Cys338Arg

Select item 14893156668.

rs1489315666 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:40967235 (GRCh38)
17:39123487 (GRCh37)
Canonical SPDI:: NC_000017.11:40967234:C:G
Gene:: KRT39 (Varview), LOC107985072 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.40967235C>G, NC_000017.10:g.39123487C>G, NG_012415.1:g.4658G>C, NW_003871091.1:g.116630C>G

Select item 14889448319.

rs1488944831 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:40958081 (GRCh38)
17:39114333 (GRCh37)
Canonical SPDI:: NC_000017.11:40958080:C:G,NC_000017.11:40958080:C:T
Gene:: KRT39 (Varview), LOC107985072 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00004/1 (TOMMO)
HGVS:: NC_000017.11:g.40958081C>G, NC_000017.11:g.40958081C>T, NC_000017.10:g.39114333C>G, NC_000017.10:g.39114333C>T, NG_012415.1:g.13812G>C, NG_012415.1:g.13812G>A, NW_003871091.1:g.107476C>G, NW_003871091.1:g.107476C>T

Select item 148880203810.

rs1488802038 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:40964224 (GRCh38)
17:39120476 (GRCh37)
Canonical SPDI:: NC_000017.11:40964223:G:A
Gene:: KRT39 (Varview), LOC107985072 (Varview)
Functional Consequence:: intron_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_000017.11:g.40964224G>A, NC_000017.10:g.39120476G>A, NG_012415.1:g.7669C>T, NW_003871091.1:g.113619G>A

Select item 148877128711.

rs1488771287 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 17:40965092 (GRCh38)
17:39121345 (GRCh37)
Canonical SPDI:: NC_000017.11:40965092:A:AA
Gene:: KRT39 (Varview), LOC107985072 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.00006/16 (TOPMED)
HGVS:: NC_000017.11:g.40965093dup, NC_000017.10:g.39121345dup, NG_012415.1:g.6800dup, NW_003871091.1:g.114488dup

Select item 148825375412.

rs1488253754 [Homo sapiens]

Variant type:: SNV:
Alleles:: T>G
Chromosome:: no mapping
Canonical SPDI:

Select item 148821557213.

rs1488215572 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:40965112 (GRCh38)
17:39121364 (GRCh37)
Canonical SPDI:: NC_000017.11:40965111:G:A
Gene:: KRT39 (Varview), LOC107985072 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00016/1 (1000Genomes)
HGVS:: NC_000017.11:g.40965112G>A, NC_000017.10:g.39121364G>A, NG_012415.1:g.6781C>T, NW_003871091.1:g.114507G>A

Select item 148756400914.

rs1487564009 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:40960418 (GRCh38)
17:39116670 (GRCh37)
Canonical SPDI:: NC_000017.11:40960417:G:A
Gene:: KRT39 (Varview), LOC107985072 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.40960418G>A, NC_000017.10:g.39116670G>A, NG_012415.1:g.11475C>T, NM_213656.4:c.1080C>T, NM_213656.3:c.1080C>T, NW_003871091.1:g.109813G>A

Select item 148727264315.

rs1487272643 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:40964604 (GRCh38)
17:39120856 (GRCh37)
Canonical SPDI:: NC_000017.11:40964603:G:A
Gene:: KRT39 (Varview), LOC107985072 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.40964604G>A, NC_000017.10:g.39120856G>A, NG_012415.1:g.7289C>T, NW_003871091.1:g.113999G>A

Select item 148667833916.

rs1486678339 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:40964829 (GRCh38)
17:39121081 (GRCh37)
Canonical SPDI:: NC_000017.11:40964828:G:C
Gene:: KRT39 (Varview), LOC107985072 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.40964829G>C, NC_000017.10:g.39121081G>C, NG_012415.1:g.7064C>G, NW_003871091.1:g.114224G>C

Select item 148645125717.

rs1486451257 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:40963057 (GRCh38)
17:39119309 (GRCh37)
Canonical SPDI:: NC_000017.11:40963056:T:C
Gene:: KRT39 (Varview), LOC107985072 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.40963057T>C, NC_000017.10:g.39119309T>C, NG_012415.1:g.8836A>G, NW_003871091.1:g.112452T>C

Select item 148624980118.

rs1486249801 has merged into rs1204737305 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GTGTGT,GTGTGTGT [Show Flanks]
Chromosome:: 17:40966063 (GRCh38)
17:39122315 (GRCh37)
Canonical SPDI:: NC_000017.11:40966057:TGTGTGTGT:TGTGT,NC_000017.11:40966057:TGTGTGTGT:TGTGTGTGTGT,NC_000017.11:40966057:TGTGTGTGT:TGTGTGTGTGTGT
Gene:: KRT39 (Varview), LOC107985072 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000017.11:g.40966059GT[2], NC_000017.11:g.40966059GT[5], NC_000017.11:g.40966059GT[6], NC_000017.10:g.39122311GT[2], NC_000017.10:g.39122311GT[5], NC_000017.10:g.39122311GT[6], NG_012415.1:g.5828CA[2], NG_012415.1:g.5828CA[5], NG_012415.1:g.5828CA[6], NW_003871091.1:g.115454GT[2], NW_003871091.1:g.115454GT[5], NW_003871091.1:g.115454GT[6]

Select item 148584876619.

rs1485848766 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:40958091 (GRCh38)
17:39114343 (GRCh37)
Canonical SPDI:: NC_000017.11:40958090:T:C
Gene:: KRT39 (Varview), LOC107985072 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_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_000017.11:g.40958091T>C, NC_000017.10:g.39114343T>C, NG_012415.1:g.13802A>G, NW_003871091.1:g.107486T>C

Select item 148575660720.

rs1485756607 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:40959174 (GRCh38)
17:39115426 (GRCh37)
Canonical SPDI:: NC_000017.11:40959173:T:A
Gene:: KRT39 (Varview), LOC107985072 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.40959174T>A, NC_000017.10:g.39115426T>A, NG_012415.1:g.12719A>T, NW_003871091.1:g.108569T>A

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