SNP Links for Nucleotide (Select 254720801) - SNP

Links from Nucleotide

Items: 1 to 20 of 3993

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Select item 14904102811.

rs1490410281 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:52771967 (GRCh38)
12:53165751 (GRCh37)
Canonical SPDI:: NC_000012.12:52771966:C:A,NC_000012.12:52771966:C:T
Gene:: KRT76 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.52771967C>A, NC_000012.12:g.52771967C>T, NC_000012.11:g.53165751C>A, NC_000012.11:g.53165751C>T, NG_012420.1:g.10379G>T, NG_012420.1:g.10379G>A, NM_015848.4:c.1167G>T, NM_015848.4:c.1167G>A, NP_056932.2:p.Arg389Ser

Select item 14903006942.

rs1490300694 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:52779741 (GRCh38)
12:53173525 (GRCh37)
Canonical SPDI:: NC_000012.12:52779740:G:A
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.52779741G>A, NC_000012.11:g.53173525G>A, NG_012420.1:g.2605C>T

Select item 14900447923.

rs1490044792 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:52769527 (GRCh38)
12:53163311 (GRCh37)
Canonical SPDI:: NC_000012.12:52769526:G:C
Gene:: KRT76 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.52769527G>C, NC_000012.11:g.53163311G>C, NG_012420.1:g.12819C>G

Select item 14899862074.

rs1489986207 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:52771598 (GRCh38)
12:53165382 (GRCh37)
Canonical SPDI:: NC_000012.12:52771597:C:G
Gene:: KRT76 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.52771598C>G, NC_000012.11:g.53165382C>G, NG_012420.1:g.10748G>C

Select item 14898116665.

rs1489811666 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:52779300 (GRCh38)
12:53173084 (GRCh37)
Canonical SPDI:: NC_000012.12:52779299:T:G
Gene:: KRT76 (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)
HGVS:: NC_000012.12:g.52779300T>G, NC_000012.11:g.53173084T>G, NG_012420.1:g.3046A>C

Select item 14895325716.

rs1489532571 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:52767910 (GRCh38)
12:53161694 (GRCh37)
Canonical SPDI:: NC_000012.12:52767909:C:T
Gene:: KRT76 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.52767910C>T, NC_000012.11:g.53161694C>T, NG_012420.1:g.14436G>A

Select item 14891855047.

rs1489185504 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAG>- [Show Flanks]
Chromosome:: 12:52771357 (GRCh38)
12:53165141 (GRCh37)
Canonical SPDI:: NC_000012.12:52771353:AAGAAG:AAG
Gene:: KRT76 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAGAAG=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.52771354AAG[1], NC_000012.11:g.53165138AAG[1], NG_012420.1:g.10987CTT[1]

Select item 14889672248.

rs1488967224 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:52774021 (GRCh38)
12:53167805 (GRCh37)
Canonical SPDI:: NC_000012.12:52774020:A:G
Gene:: KRT76 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.52774021A>G, NC_000012.11:g.53167805A>G, NG_012420.1:g.8325T>C

Select item 14888351799.

rs1488835179 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:52772949 (GRCh38)
12:53166733 (GRCh37)
Canonical SPDI:: NC_000012.12:52772948:C:T
Gene:: KRT76 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.52772949C>T, NC_000012.11:g.53166733C>T, NG_012420.1:g.9397G>A

Select item 148826623510.

rs1488266235 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:52775576 (GRCh38)
12:53169360 (GRCh37)
Canonical SPDI:: NC_000012.12:52775575:C:A,NC_000012.12:52775575:C:T
Gene:: KRT76 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.52775576C>A, NC_000012.12:g.52775576C>T, NC_000012.11:g.53169360C>A, NC_000012.11:g.53169360C>T, NG_012420.1:g.6770G>T, NG_012420.1:g.6770G>A, NM_015848.4:c.627G>T, NM_015848.4:c.627G>A, NP_056932.2:p.Lys209Asn

Select item 148815825911.

rs1488158259 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:52769652 (GRCh38)
12:53163436 (GRCh37)
Canonical SPDI:: NC_000012.12:52769651:A:G
Gene:: KRT76 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000012.12:g.52769652A>G, NC_000012.11:g.53163436A>G, NG_012420.1:g.12694T>C

Select item 148786423712.

rs1487864237 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:52773123 (GRCh38)
12:53166907 (GRCh37)
Canonical SPDI:: NC_000012.12:52773122:T:G
Gene:: KRT76 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.52773123T>G, NC_000012.11:g.53166907T>G, NG_012420.1:g.9223A>C

Select item 148778303313.

rs1487783033 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:52775641 (GRCh38)
12:53169425 (GRCh37)
Canonical SPDI:: NC_000012.12:52775640:G:T
Gene:: KRT76 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000012.12:g.52775641G>T, NC_000012.11:g.53169425G>T, NG_012420.1:g.6705C>A

Select item 148767157114.

rs1487671571 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:52777341 (GRCh38)
12:53171125 (GRCh37)
Canonical SPDI:: NC_000012.12:52777340:G:A
Gene:: KRT76 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0.000043/1 (ALFA)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000012.12:g.52777341G>A, NC_000012.11:g.53171125G>A, NG_012420.1:g.5005C>T, NM_015848.4:c.-50C>T

Select item 148748141815.

rs1487481418 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:52780331 (GRCh38)
12:53174115 (GRCh37)
Canonical SPDI:: NC_000012.12:52780330:C:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.52780331C>T, NC_000012.11:g.53174115C>T, NG_012420.1:g.2015G>A

Select item 148718404616.

rs1487184046 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:52769175 (GRCh38)
12:53162959 (GRCh37)
Canonical SPDI:: NC_000012.12:52769174:T:C
Gene:: KRT76 (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_000012.12:g.52769175T>C, NC_000012.11:g.53162959T>C, NG_012420.1:g.13171A>G

Select item 148701110417.

rs1487011104 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:52773063 (GRCh38)
12:53166847 (GRCh37)
Canonical SPDI:: NC_000012.12:52773062:A:T
Gene:: KRT76 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.52773063A>T, NC_000012.11:g.53166847A>T, NG_012420.1:g.9283T>A

Select item 148698589018.

rs1486985890 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:52774660 (GRCh38)
12:53168444 (GRCh37)
Canonical SPDI:: NC_000012.12:52774659:G:A,NC_000012.12:52774659:G:C
Gene:: KRT76 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.52774660G>A, NC_000012.12:g.52774660G>C, NC_000012.11:g.53168444G>A, NC_000012.11:g.53168444G>C, NG_012420.1:g.7686C>T, NG_012420.1:g.7686C>G

Select item 148674797419.

rs1486747974 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:52769056 (GRCh38)
12:53162840 (GRCh37)
Canonical SPDI:: NC_000012.12:52769055:A:T
Gene:: KRT76 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.52769056A>T, NC_000012.11:g.53162840A>T, NG_012420.1:g.13290T>A, NM_015848.4:c.1574T>A, NP_056932.2:p.Val525Asp

Select item 148660170220.

rs1486601702 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:52780735 (GRCh38)
12:53174519 (GRCh37)
Canonical SPDI:: NC_000012.12:52780734:G:A,NC_000012.12:52780734:G:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.52780735G>A, NC_000012.12:g.52780735G>T, NC_000012.11:g.53174519G>A, NC_000012.11:g.53174519G>T, NG_012420.1:g.1611C>T, NG_012420.1:g.1611C>A

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