SNP Links for Gene (Select 353288) - SNP

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Items: 1 to 20 of 2039

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Select item 14909463621.

rs1490946362 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:40768187 (GRCh38)
17:38924439 (GRCh37)
Canonical SPDI:: NC_000017.11:40768186:T:C
Gene:: KRT26 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.40768187T>C, NC_000017.10:g.38924439T>C, NG_012487.1:g.8973A>G

Select item 14895534042.

rs1489553404 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 17:40771423 (GRCh38)
17:38927675 (GRCh37)
Canonical SPDI:: NC_000017.11:40771422:A:C,NC_000017.11:40771422:A:G
Gene:: KRT26 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.40771423A>C, NC_000017.11:g.40771423A>G, NC_000017.10:g.38927675A>C, NC_000017.10:g.38927675A>G, NG_012487.1:g.5737T>G, NG_012487.1:g.5737T>C

Select item 14883705253.

rs1488370525 [Homo sapiens]

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

Select item 14880811404.

rs1488081140 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:40773310 (GRCh38)
17:38929562 (GRCh37)
Canonical SPDI:: NC_000017.11:40773309:T:G
Gene:: KRT26 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.40773310T>G, NC_000017.10:g.38929562T>G, NG_012487.1:g.3850A>C

Select item 14879023375.

rs1487902337 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:40770235 (GRCh38)
17:38926487 (GRCh37)
Canonical SPDI:: NC_000017.11:40770234:C:G
Gene:: KRT26 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.40770235C>G, NC_000017.10:g.38926487C>G, NG_012487.1:g.6925G>C

Select item 14869415436.

rs1486941543 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:40768689 (GRCh38)
17:38924941 (GRCh37)
Canonical SPDI:: NC_000017.11:40768688:T:C
Gene:: KRT26 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
C=0.000071/2 (TOMMO)
HGVS:: NC_000017.11:g.40768689T>C, NC_000017.10:g.38924941T>C, NG_012487.1:g.8471A>G

Select item 14869412317.

rs1486941231 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:40769071 (GRCh38)
17:38925323 (GRCh37)
Canonical SPDI:: NC_000017.11:40769070:G:A,NC_000017.11:40769070:G:T
Gene:: KRT26 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.40769071G>A, NC_000017.11:g.40769071G>T, NC_000017.10:g.38925323G>A, NC_000017.10:g.38925323G>T, NG_012487.1:g.8089C>T, NG_012487.1:g.8089C>A, NM_181539.5:c.995C>T, NM_181539.5:c.995C>A, NM_181539.4:c.995C>T, NM_181539.4:c.995C>A, NP_853517.2:p.Ala332Val, NP_853517.2:p.Ala332Asp

Select item 14868407488.

rs1486840748 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:40767771 (GRCh38)
17:38924023 (GRCh37)
Canonical SPDI:: NC_000017.11:40767770:T:A
Gene:: KRT26 (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.40767771T>A, NC_000017.10:g.38924023T>A, NG_012487.1:g.9389A>T

Select item 14866985399.

rs1486698539 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:40768835 (GRCh38)
17:38925087 (GRCh37)
Canonical SPDI:: NC_000017.11:40768834:A:G
Gene:: KRT26 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.40768835A>G, NC_000017.10:g.38925087A>G, NG_012487.1:g.8325T>C

Select item 148662858110.

rs1486628581 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:40772779 (GRCh38)
17:38929031 (GRCh37)
Canonical SPDI:: NC_000017.11:40772778:T:C
Gene:: KRT26 (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.40772779T>C, NC_000017.10:g.38929031T>C, NG_012487.1:g.4381A>G

Select item 148606848811.

rs1486068488 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:40773198 (GRCh38)
17:38929450 (GRCh37)
Canonical SPDI:: NC_000017.11:40773197:C:T
Gene:: KRT26 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.40773198C>T, NC_000017.10:g.38929450C>T, NG_012487.1:g.3962G>A

Select item 148577916612.

rs1485779166 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:40770103 (GRCh38)
17:38926355 (GRCh37)
Canonical SPDI:: NC_000017.11:40770102:T:C
Gene:: KRT26 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.40770103T>C, NC_000017.10:g.38926355T>C, NG_012487.1:g.7057A>G, NM_181539.5:c.701A>G, NM_181539.4:c.701A>G, NP_853517.2:p.Tyr234Cys

Select item 148525922113.

rs1485259221 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:40766826 (GRCh38)
17:38923078 (GRCh37)
Canonical SPDI:: NC_000017.11:40766825:G:A
Gene:: KRT26 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.40766826G>A, NC_000017.10:g.38923078G>A, NG_012487.1:g.10334C>T

Select item 148458114614.

rs1484581146 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 17:40770101 (GRCh38)
17:38926353 (GRCh37)
Canonical SPDI:: NC_000017.11:40770100:T:
Gene:: KRT26 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.40770101del, NC_000017.10:g.38926353del, NG_012487.1:g.7059del, NM_181539.5:c.703del, NM_181539.4:c.703del, NP_853517.2:p.Thr235fs

Select item 148446413215.

rs1484464132 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:40770310 (GRCh38)
17:38926562 (GRCh37)
Canonical SPDI:: NC_000017.11:40770309:C:T
Gene:: KRT26 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.40770310C>T, NC_000017.10:g.38926562C>T, NG_012487.1:g.6850G>A, NM_181539.5:c.624G>A, NM_181539.4:c.624G>A

Select item 148357697316.

rs1483576973 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:40767246 (GRCh38)
17:38923498 (GRCh37)
Canonical SPDI:: NC_000017.11:40767245:T:C
Gene:: KRT26 (Varview)
Functional Consequence:: 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.40767246T>C, NC_000017.10:g.38923498T>C, NG_012487.1:g.9914A>G

Select item 148356398617.

rs1483563986 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAAA>- [Show Flanks]
Chromosome:: 17:40766682 (GRCh38)
17:38922934 (GRCh37)
Canonical SPDI:: NC_000017.11:40766674:AAATAAATAAA:AAATAAA
Gene:: KRT26 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAATAAA=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.40766678TAAA[1], NC_000017.10:g.38922930TAAA[1], NG_012487.1:g.10478ATTT[1]

Select item 148251130018.

rs1482511300 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:40769084 (GRCh38)
17:38925336 (GRCh37)
Canonical SPDI:: NC_000017.11:40769083:C:G
Gene:: KRT26 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.40769084C>G, NC_000017.10:g.38925336C>G, NG_012487.1:g.8076G>C, NM_181539.5:c.982G>C, NM_181539.4:c.982G>C, NP_853517.2:p.Glu328Gln

Select item 148200973119.

rs1482009731 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:40768816 (GRCh38)
17:38925068 (GRCh37)
Canonical SPDI:: NC_000017.11:40768815:C:G,NC_000017.11:40768815:C:T
Gene:: KRT26 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.40768816C>G, NC_000017.11:g.40768816C>T, NC_000017.10:g.38925068C>G, NC_000017.10:g.38925068C>T, NG_012487.1:g.8344G>C, NG_012487.1:g.8344G>A

Select item 148130629520.

rs1481306295 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:40772063 (GRCh38)
17:38928315 (GRCh37)
Canonical SPDI:: NC_000017.11:40772062:C:A
Gene:: KRT26 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.40772063C>A, NC_000017.10:g.38928315C>A, NG_012487.1:g.5097G>T, NM_181539.5:c.51G>T, NM_181539.4:c.51G>T

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