SNP Links for Gene (Select 1159) - SNP

Links from Gene

Items: 1 to 20 of 1106

<< First< Prev

Page of 56

Next >Last >>

Select item 14904651141.

rs1490465114 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:43591104 (GRCh38)
15:43883302 (GRCh37)
Canonical SPDI:: NC_000015.10:43591103:G:A
Gene:: CKMT1B (Varview), PPIP5K1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.00017/2 (ALFA)
A=0.00018/3 (GnomAD)
HGVS:: NC_000015.10:g.43591104G>A, NC_000015.9:g.43883302G>A, NG_022929.1:g.4150C>T

Select item 14893458372.

rs1489345837 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:43599572 (GRCh38)
15:43891770 (GRCh37)
Canonical SPDI:: NC_000015.10:43599571:T:C
Gene:: CKMT1B (Varview), STRC (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000015.10:g.43599572T>C, NC_000015.9:g.43891770T>C, NG_011636.1:g.24229A>G, NM_153700.2:c.*100A>G

Select item 14881963563.

rs1488196356 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:43592614 (GRCh38)
15:43884812 (GRCh37)
Canonical SPDI:: NC_000015.10:43592613:T:C
Gene:: CKMT1B (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=0.000753/2 (KOREAN)
HGVS:: NC_000015.10:g.43592614T>C, NC_000015.9:g.43884812T>C, NG_022929.1:g.2640A>G

Select item 14869683684.

rs1486968368 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:43598355 (GRCh38)
15:43890553 (GRCh37)
Canonical SPDI:: NC_000015.10:43598354:G:A
Gene:: CKMT1B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.43598355G>A, NC_000015.9:g.43890553G>A, NG_011636.1:g.25446C>T

Select item 14857787795.

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 14855470146.

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 14851330747.

rs1485133074 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:43591277 (GRCh38)
15:43883475 (GRCh37)
Canonical SPDI:: NC_000015.10:43591276:G:A
Gene:: CKMT1B (Varview), PPIP5K1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000074/8 (GnomAD)
A=0.00009/1 (TOMMO)
HGVS:: NC_000015.10:g.43591277G>A, NC_000015.9:g.43883475G>A, NG_022929.1:g.3977C>T

Select item 14850597198.

rs1485059719 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:43596372 (GRCh38)
15:43888570 (GRCh37)
Canonical SPDI:: NC_000015.10:43596371:C:T
Gene:: CKMT1B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.43596372C>T, NC_000015.9:g.43888570C>T

Select item 14850251669.

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 148500923510.

rs1485009235 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 15:43598989 (GRCh38)
15:43891187 (GRCh37)
Canonical SPDI:: NC_000015.10:43598988:G:A,NC_000015.10:43598988:G:C,NC_000015.10:43598988:G:T
Gene:: CKMT1B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.43598989G>A, NC_000015.10:g.43598989G>C, NC_000015.10:g.43598989G>T, NC_000015.9:g.43891187G>A, NC_000015.9:g.43891187G>C, NC_000015.9:g.43891187G>T, NG_011636.1:g.24812C>T, NG_011636.1:g.24812C>G, NG_011636.1:g.24812C>A

Select item 148469703011.

rs1484697030 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:43598705 (GRCh38)
15:43890903 (GRCh37)
Canonical SPDI:: NC_000015.10:43598704:A:G
Gene:: CKMT1B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.43598705A>G, NC_000015.9:g.43890903A>G, NG_011636.1:g.25096T>C

Select item 148464885612.

rs1484648856 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:43596818 (GRCh38)
15:43889016 (GRCh37)
Canonical SPDI:: NC_000015.10:43596817:G:A
Gene:: CKMT1B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000253/3 (ALFA)
A=0.00008/11 (GnomAD)
A=0.000144/38 (TOPMED)
HGVS:: NC_000015.10:g.43596818G>A, NC_000015.9:g.43889016G>A

Select item 148352517913.

rs1483525179 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 15:43596558 (GRCh38)
15:43888756 (GRCh37)
Canonical SPDI:: NC_000015.10:43596557:A:
Gene:: CKMT1B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.43596558del, NC_000015.9:g.43888756del

Select item 148254317014.

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 148155778415.

rs1481557784 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:43591230 (GRCh38)
15:43883428 (GRCh37)
Canonical SPDI:: NC_000015.10:43591229:T:C
Gene:: CKMT1B (Varview), PPIP5K1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000015.10:g.43591230T>C, NC_000015.9:g.43883428T>C, NG_022929.1:g.4024A>G

Select item 148113294716.

rs1481132947 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:43599667 (GRCh38)
15:43891865 (GRCh37)
Canonical SPDI:: NC_000015.10:43599666:C:T
Gene:: CKMT1B (Varview), STRC (Varview)
Functional Consequence:: 3_prime_UTR_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.43599667C>T, NC_000015.9:g.43891865C>T, NG_011636.1:g.24134G>A, NM_153700.2:c.*5G>A

Select item 148091056217.

rs1480910562 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 15:43598712 (GRCh38)
15:43890910 (GRCh37)
Canonical SPDI:: NC_000015.10:43598711:AAAAAA:AAAAA
Gene:: CKMT1B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.43598717del, NC_000015.9:g.43890915del, NG_011636.1:g.25089del

Select item 148081473018.

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 148015262819.

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 147995519720.

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

<< First< Prev

Page of 56

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 1106

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity