SNP Links for Nucleotide (Select 1011750908) - SNP

Links from Nucleotide

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Select item 14857787791.

rs1485778779 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:43597564 (GRCh38)
15:43889762 (GRCh37)
Canonical SPDI:: NC_000015.10:43597563:T:C
Gene:: CKMT1B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.0002/1 (ALFA)
HGVS:: NC_000015.10:g.43597564T>C, NC_000015.9:g.43889762T>C, NG_011636.1:g.26237A>G, NR_135750.2:n.1654T>C, NR_135750.1:n.1654T>C, NR_135748.1:n.1703T>C, NR_135749.1:n.1683T>C, NR_135751.1:n.1543T>C, NR_135752.1:n.1310T>C

Select item 14855470142.

rs1485547014 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:43597553 (GRCh38)
15:43889751 (GRCh37)
Canonical SPDI:: NC_000015.10:43597552:C:T
Gene:: CKMT1B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.43597553C>T, NC_000015.9:g.43889751C>T, NR_135750.2:n.1643C>T, NR_135750.1:n.1643C>T, NR_135748.1:n.1692C>T, NR_135749.1:n.1672C>T, NR_135751.1:n.1532C>T, NR_135752.1:n.1299C>T

Select item 14850251663.

rs1485025166 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:43597713 (GRCh38)
15:43889911 (GRCh37)
Canonical SPDI:: NC_000015.10:43597712:T:C
Gene:: CKMT1B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000022/3 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000015.10:g.43597713T>C, NC_000015.9:g.43889911T>C, NG_011636.1:g.26088A>G, NR_135750.2:n.1803T>C, NR_135750.1:n.1803T>C, NR_135748.1:n.1852T>C, NR_135749.1:n.1832T>C, NR_135751.1:n.1692T>C, NR_135752.1:n.1459T>C

Select item 14825431704.

rs1482543170 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:43595976 (GRCh38)
15:43888174 (GRCh37)
Canonical SPDI:: NC_000015.10:43595975:C:T
Gene:: CKMT1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.00005/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.43595976C>T, NC_000015.9:g.43888174C>T, NM_020990.5:c.565C>T, NM_020990.4:c.565C>T, NM_020990.3:c.565C>T, XM_005254150.5:c.88C>T, XM_005254150.4:c.88C>T, XM_005254150.3:c.88C>T, XM_005254150.2:c.88C>T, XM_005254150.1:c.88C>T, XM_011521195.3:c.658C>T, XM_011521195.2:c.658C>T, XM_011521195.1:c.658C>T, NR_135750.2:n.1154C>T, NR_135750.1:n.1154C>T, XM_011521194.2:c.658C>T, XM_011521194.1:c.658C>T, XM_011521196.2:c.658C>T, XM_011521196.1:c.658C>T, NR_135748.1:n.1203C>T, NR_135749.1:n.1183C>T, NR_135751.1:n.1043C>T, NR_135752.1:n.810C>T, XM_047432132.1:c.565C>T, XM_047432133.1:c.565C>T, NM_001375484.1:c.565C>T, XM_047432134.1:c.614C>T, NP_066270.1:p.Arg189Cys, XP_005254207.1:p.Arg30Cys, XP_011519497.1:p.Arg220Cys, XP_011519496.1:p.Arg220Cys, XP_011519498.1:p.Arg220Cys, XP_047288088.1:p.Arg189Cys, XP_047288089.1:p.Arg189Cys, NP_001362413.1:p.Arg189Cys, XP_047288090.1:p.Thr205Met

Select item 14808147305.

rs1480814730 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:43597762 (GRCh38)
15:43889960 (GRCh37)
Canonical SPDI:: NC_000015.10:43597761:T:C
Gene:: CKMT1B (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000044/6 (GnomAD)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000015.10:g.43597762T>C, NC_000015.9:g.43889960T>C, NG_011636.1:g.26039A>G, NR_135750.2:n.1852T>C, NR_135750.1:n.1852T>C, NR_135748.1:n.1901T>C, NR_135749.1:n.1881T>C, NR_135751.1:n.1741T>C, NR_135752.1:n.1508T>C

Select item 14801526286.

rs1480152628 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:43598944 (GRCh38)
15:43891142 (GRCh37)
Canonical SPDI:: NC_000015.10:43598943:A:G
Gene:: CKMT1B (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.43598944A>G, NC_000015.9:g.43891142A>G, NG_011636.1:g.24857T>C, NM_020990.5:c.1129A>G, NM_020990.4:c.1129A>G, NM_020990.3:c.1129A>G, XM_005254150.5:c.652A>G, XM_005254150.4:c.652A>G, XM_005254150.3:c.652A>G, XM_005254150.2:c.652A>G, XM_005254150.1:c.652A>G, XM_011521195.3:c.1222A>G, XM_011521195.2:c.1222A>G, XM_011521195.1:c.1222A>G, NR_135750.2:n.2535A>G, NR_135750.1:n.2535A>G, XM_011521194.2:c.1222A>G, XM_011521194.1:c.1222A>G, XM_011521196.2:c.1222A>G, XM_011521196.1:c.1222A>G, NR_135748.1:n.2584A>G, NR_135749.1:n.2564A>G, NR_135751.1:n.2424A>G, NR_135752.1:n.2191A>G, XM_047432132.1:c.1129A>G, XM_047432133.1:c.1129A>G, NM_001375484.1:c.1129A>G, NP_066270.1:p.Lys377Glu, XP_005254207.1:p.Lys218Glu, XP_011519497.1:p.Lys408Glu, XP_011519496.1:p.Lys408Glu, XP_011519498.1:p.Lys408Glu, XP_047288088.1:p.Lys377Glu, XP_047288089.1:p.Lys377Glu, NP_001362413.1:p.Lys377Glu

Select item 14799551977.

rs1479955197 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 15:43597921 (GRCh38)
15:43890119 (GRCh37)
Canonical SPDI:: NC_000015.10:43597920:A:C,NC_000015.10:43597920:A:G
Gene:: CKMT1B (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000065/9 (GnomAD)
HGVS:: NC_000015.10:g.43597921A>C, NC_000015.10:g.43597921A>G, NC_000015.9:g.43890119A>C, NC_000015.9:g.43890119A>G, NG_011636.1:g.25880T>G, NG_011636.1:g.25880T>C, NR_135750.2:n.2011A>C, NR_135750.2:n.2011A>G, NR_135750.1:n.2011A>C, NR_135750.1:n.2011A>G, NR_135748.1:n.2060A>C, NR_135748.1:n.2060A>G, NR_135749.1:n.2040A>C, NR_135749.1:n.2040A>G, NR_135751.1:n.1900A>C, NR_135751.1:n.1900A>G, NR_135752.1:n.1667A>C, NR_135752.1:n.1667A>G

Select item 14789654598.

rs1478965459 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:43596522 (GRCh38)
15:43888720 (GRCh37)
Canonical SPDI:: NC_000015.10:43596521:C:A
Gene:: CKMT1B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000671/3 (ALFA)
A=0.000022/3 (GnomAD)
HGVS:: NC_000015.10:g.43596522C>A, NC_000015.9:g.43888720C>A, NM_020990.5:c.867C>A, NM_020990.4:c.867C>A, NM_020990.3:c.867C>A, XM_005254150.5:c.390C>A, XM_005254150.4:c.390C>A, XM_005254150.3:c.390C>A, XM_005254150.2:c.390C>A, XM_005254150.1:c.390C>A, XM_011521195.3:c.960C>A, XM_011521195.2:c.960C>A, XM_011521195.1:c.960C>A, NR_135750.2:n.1456C>A, NR_135750.1:n.1456C>A, XM_011521194.2:c.960C>A, XM_011521194.1:c.960C>A, XM_011521196.2:c.960C>A, XM_011521196.1:c.960C>A, NR_135748.1:n.1505C>A, NR_135749.1:n.1485C>A, NR_135751.1:n.1345C>A, NR_135752.1:n.1112C>A, XM_047432132.1:c.867C>A, XM_047432133.1:c.867C>A, NM_001375484.1:c.867C>A

Select item 14788270359.

rs1478827035 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:43598183 (GRCh38)
15:43890381 (GRCh37)
Canonical SPDI:: NC_000015.10:43598182:G:C
Gene:: CKMT1B (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.43598183G>C, NC_000015.9:g.43890381G>C, NG_011636.1:g.25618C>G, NR_135750.2:n.2273G>C, NR_135750.1:n.2273G>C, NR_135748.1:n.2322G>C, NR_135749.1:n.2302G>C, NR_135751.1:n.2162G>C, NR_135752.1:n.1929G>C

Select item 147832137110.

rs1478321371 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:43596521 (GRCh38)
15:43888719 (GRCh37)
Canonical SPDI:: NC_000015.10:43596520:G:A
Gene:: CKMT1B (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.43596521G>A, NC_000015.9:g.43888719G>A, NM_020990.5:c.866G>A, NM_020990.4:c.866G>A, NM_020990.3:c.866G>A, XM_005254150.5:c.389G>A, XM_005254150.4:c.389G>A, XM_005254150.3:c.389G>A, XM_005254150.2:c.389G>A, XM_005254150.1:c.389G>A, XM_011521195.3:c.959G>A, XM_011521195.2:c.959G>A, XM_011521195.1:c.959G>A, NR_135750.2:n.1455G>A, NR_135750.1:n.1455G>A, XM_011521194.2:c.959G>A, XM_011521194.1:c.959G>A, XM_011521196.2:c.959G>A, XM_011521196.1:c.959G>A, NR_135748.1:n.1504G>A, NR_135749.1:n.1484G>A, NR_135751.1:n.1344G>A, NR_135752.1:n.1111G>A, XM_047432132.1:c.866G>A, XM_047432133.1:c.866G>A, NM_001375484.1:c.866G>A, NP_066270.1:p.Gly289Asp, XP_005254207.1:p.Gly130Asp, XP_011519497.1:p.Gly320Asp, XP_011519496.1:p.Gly320Asp, XP_011519498.1:p.Gly320Asp, XP_047288088.1:p.Gly289Asp, XP_047288089.1:p.Gly289Asp, NP_001362413.1:p.Gly289Asp

Select item 147788369711.

rs1477883697 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:43599171 (GRCh38)
15:43891369 (GRCh37)
Canonical SPDI:: NC_000015.10:43599170:A:G
Gene:: CKMT1B (Varview), STRC (Varview)
Functional Consequence:: 500B_downstream_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.43599171A>G, NC_000015.9:g.43891369A>G, NG_011636.1:g.24630T>C, NM_020990.5:c.1152A>G, NM_020990.4:c.1152A>G, NM_020990.3:c.1152A>G, XM_005254150.5:c.675A>G, XM_005254150.4:c.675A>G, XM_005254150.3:c.675A>G, XM_005254150.2:c.675A>G, XM_005254150.1:c.675A>G, XM_011521195.3:c.1245A>G, XM_011521195.2:c.1245A>G, XM_011521195.1:c.1245A>G, NR_135750.2:n.2558A>G, NR_135750.1:n.2558A>G, XM_011521194.2:c.1245A>G, XM_011521194.1:c.1245A>G, XM_011521196.2:c.1245A>G, XM_011521196.1:c.1245A>G, NR_135748.1:n.2607A>G, NR_135749.1:n.2587A>G, NR_135751.1:n.2447A>G, NR_135752.1:n.2214A>G, XM_047432132.1:c.1152A>G, XM_047432133.1:c.1152A>G, NM_001375484.1:c.1152A>G

Select item 147636425212.

rs1476364252 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:43598066 (GRCh38)
15:43890264 (GRCh37)
Canonical SPDI:: NC_000015.10:43598065:T:C
Gene:: CKMT1B (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_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_000015.10:g.43598066T>C, NC_000015.9:g.43890264T>C, NG_011636.1:g.25735A>G, NR_135750.2:n.2156T>C, NR_135750.1:n.2156T>C, NR_135748.1:n.2205T>C, NR_135749.1:n.2185T>C, NR_135751.1:n.2045T>C, NR_135752.1:n.1812T>C

Select item 147579066013.

rs1475790660 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:43599380 (GRCh38)
15:43891578 (GRCh37)
Canonical SPDI:: NC_000015.10:43599379:C:G
Gene:: CKMT1B (Varview), STRC (Varview)
Functional Consequence:: 3_prime_UTR_variant,500B_downstream_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00003/8 (TOPMED)
HGVS:: NC_000015.10:g.43599380C>G, NC_000015.9:g.43891578C>G, NG_011636.1:g.24421G>C, NM_020990.5:c.*107C>G, NM_020990.4:c.*107C>G, NM_020990.3:c.*107C>G, XM_005254150.5:c.*107C>G, XM_005254150.4:c.*107C>G, XM_005254150.3:c.*107C>G, XM_005254150.2:c.*107C>G, XM_005254150.1:c.*107C>G, XM_011521195.3:c.*107C>G, XM_011521195.2:c.*107C>G, XM_011521195.1:c.*107C>G, NR_135750.2:n.2767C>G, NR_135750.1:n.2767C>G, XM_011521194.2:c.*107C>G, XM_011521194.1:c.*107C>G, XM_011521196.2:c.*107C>G, XM_011521196.1:c.*107C>G, NR_135748.1:n.2816C>G, NR_135749.1:n.2796C>G, NR_135751.1:n.2656C>G, NR_135752.1:n.2423C>G, XM_047432132.1:c.*107C>G, XM_047432133.1:c.*107C>G, NM_001375484.1:c.*107C>G

Select item 147518542214.

rs1475185422 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:43597579 (GRCh38)
15:43889777 (GRCh37)
Canonical SPDI:: NC_000015.10:43597578:C:T
Gene:: CKMT1B (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000051/7 (GnomAD)
T=0.000156/1 (1000Genomes)
T=0.000699/2 (KOREAN)
HGVS:: NC_000015.10:g.43597579C>T, NC_000015.9:g.43889777C>T, NG_011636.1:g.26222G>A, NR_135750.2:n.1669C>T, NR_135750.1:n.1669C>T, NR_135748.1:n.1718C>T, NR_135749.1:n.1698C>T, NR_135751.1:n.1558C>T, NR_135752.1:n.1325C>T