SNP Links for Nucleotide (Select 239735545) - SNP

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:41371564 (GRCh38)
17:39527816 (GRCh37)
Canonical SPDI:: NC_000017.11:41371563:T:C
Gene:: KRT33B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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.41371564T>C, NC_000017.10:g.39527816T>C, NG_012290.1:g.3232A>G, NW_003315953.2:g.68698A>G, NW_003315953.1:g.68698A>G, NW_025791801.1:g.311468T>C

Select item 148730655015.

rs1487306550 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:41365560 (GRCh38)
17:39521812 (GRCh37)
Canonical SPDI:: NC_000017.11:41365559:G:A
Gene:: KRT33B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.41365560G>A, NC_000017.10:g.39521812G>A, NG_012290.1:g.9236C>T, NW_003315953.2:g.74701C>T, NW_003315953.1:g.74701C>T, NW_025791801.1:g.305464G>A

Select item 148686279816.

rs1486862798 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 17:41373961 (GRCh38)
17:39530214 (GRCh37)
Canonical SPDI:: NC_000017.11:41373961::T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.41373961_41373962insT, NC_000017.10:g.39530213_39530214insT, NG_012290.1:g.834_835insA, NW_003315953.2:g.66300_66301insA, NW_003315953.1:g.66300_66301insA, NW_025791801.1:g.313865_313866insT

Select item 148681121017.

rs1486811210 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:41367427 (GRCh38)
17:39523679 (GRCh37)
Canonical SPDI:: NC_000017.11:41367426:C:T
Gene:: KRT33B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000017.11:g.41367427C>T, NC_000017.10:g.39523679C>T, NG_012290.1:g.7369G>A, NW_003315953.2:g.72834G>A, NW_003315953.1:g.72834G>A, NW_025791801.1:g.307331C>T

Select item 148671467318.

rs1486714673 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:41373819 (GRCh38)
17:39530071 (GRCh37)
Canonical SPDI:: NC_000017.11:41373818:T:C
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.41373819T>C, NC_000017.10:g.39530071T>C, NG_012290.1:g.977A>G, NW_003315953.2:g.66443A>G, NW_003315953.1:g.66443A>G, NW_025791801.1:g.313723T>C

Select item 148641606119.

rs1486416061 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:41370033 (GRCh38)
17:39526285 (GRCh37)
Canonical SPDI:: NC_000017.11:41370032:G:A
Gene:: KRT33B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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.41370033G>A, NC_000017.10:g.39526285G>A, NG_012290.1:g.4763C>T, NW_003315953.2:g.70228C>T, NW_003315953.1:g.70228C>T, NW_025791801.1:g.309937G>A

Select item 148613512520.

rs1486135125 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:41373004 (GRCh38)
17:39529256 (GRCh37)
Canonical SPDI:: NC_000017.11:41373003:A:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.41373004A>T, NC_000017.10:g.39529256A>T, NG_012290.1:g.1792T>A, NW_003315953.2:g.67258T>A, NW_003315953.1:g.67258T>A, NW_025791801.1:g.312908A>T

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