SNP Links for Nucleotide (Select 307746867) - SNP

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Links from Nucleotide

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Select item 14915834731.

rs1491583473 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATC [Show Flanks]
Chromosome:: 12:10371937 (GRCh38)
12:10524537 (GRCh37)
Canonical SPDI:: NC_000012.12:10371937::A,NC_000012.12:10371937::ATC
Gene:: KLRK1 (Varview), KLRC4-KLRK1 (Varview), KLRK1-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: ATC=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.10371937_10371938insA, NC_000012.12:g.10371937_10371938insATC, NC_000012.11:g.10524536_10524537insA, NC_000012.11:g.10524536_10524537insATC, NG_027762.1:g.23104_23105insT, NG_027762.1:g.23104_23105insGAT

Select item 14915438062.

rs1491543806 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 12:10380083 (GRCh38)
12:10532683 (GRCh37)
Canonical SPDI:: NC_000012.12:10380083:G:GG
Gene:: KLRK1 (Varview), KLRC4-KLRK1 (Varview), KLRK1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.00003/2 (GnomAD)
HGVS:: NC_000012.12:g.10380084dup, NC_000012.11:g.10532683dup, NG_027762.1:g.14958dup

Select item 14914648083.

rs1491464808 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 12:10374398 (GRCh38)
12:10526998 (GRCh37)
Canonical SPDI:: NC_000012.12:10374398::C
Gene:: KLRK1 (Varview), KLRC4-KLRK1 (Varview), KLRK1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.10374398_10374399insC, NC_000012.11:g.10526997_10526998insC, NG_027762.1:g.20643_20644insG

Select item 14912139514.

rs1491213951 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 12:10380083 (GRCh38)
12:10532682 (GRCh37)
Canonical SPDI:: NC_000012.12:10380082:TG:
Gene:: KLRK1 (Varview), KLRC4-KLRK1 (Varview), KLRK1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.02276/270 (ALFA)
-=0.00233/195 (GnomAD)
-=0.01936/313 (TOMMO)
HGVS:: NC_000012.12:g.10380083_10380084del, NC_000012.11:g.10532682_10532683del, NG_027762.1:g.14958_14959del

Select item 14911923785.

rs1491192378 has merged into rs11415103 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 12:10375050 (GRCh38)
12:10527649 (GRCh37)
Canonical SPDI:: NC_000012.12:10375044:AAAAAAA:AAAAA,NC_000012.12:10375044:AAAAAAA:AAAAAA,NC_000012.12:10375044:AAAAAAA:AAAAAAAA,NC_000012.12:10375044:AAAAAAA:AAAAAAAAA
Gene:: KLRK1 (Varview), KLRC4-KLRK1 (Varview), KLRK1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
-=0.21574/499 (1000Genomes)
-=0.225/9 (GENOME_DK)
-=0.26148/4382 (TOMMO)
-=0.27956/279 (GoNL)
-=0.29866/1338 (Estonian)
-=0.30333/182 (NorthernSweden)
HGVS:: NC_000012.12:g.10375050_10375051del, NC_000012.12:g.10375051del, NC_000012.12:g.10375051dup, NC_000012.12:g.10375050_10375051dup, NC_000012.11:g.10527649_10527650del, NC_000012.11:g.10527650del, NC_000012.11:g.10527650dup, NC_000012.11:g.10527649_10527650dup, NG_027762.1:g.19996_19997del, NG_027762.1:g.19997del, NG_027762.1:g.19997dup, NG_027762.1:g.19996_19997dup

Select item 14911002716.

rs1491100271 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 12:10371938 (GRCh38)
12:10524537 (GRCh37)
Canonical SPDI:: NC_000012.12:10371936:TTT:T
Gene:: KLRK1 (Varview), KLRC4-KLRK1 (Varview), KLRK1-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.10371938_10371939del, NC_000012.11:g.10524537_10524538del, NG_027762.1:g.23104_23105del

Select item 14910350837.

rs1491035083 has merged into rs912460229 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT [Show Flanks]
Chromosome:: 12:10386219 (GRCh38)
12:10538818 (GRCh37)
Canonical SPDI:: NC_000012.12:10386211:TCTCTCTCT:TCTCTCT,NC_000012.12:10386211:TCTCTCTCT:TCTCTCTCTCT
Gene:: KLRK1 (Varview), KLRC4-KLRK1 (Varview), KLRK1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTCTCT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.10386213CT[3], NC_000012.12:g.10386213CT[5], NC_000012.11:g.10538812CT[3], NC_000012.11:g.10538812CT[5], NG_027762.1:g.8823GA[3], NG_027762.1:g.8823GA[5]

Select item 14907225048.

rs1490722504 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:10386919 (GRCh38)
12:10539518 (GRCh37)
Canonical SPDI:: NC_000012.12:10386918:G:C
Gene:: KLRK1 (Varview), KLRC4-KLRK1 (Varview), KLRK1-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.10386919G>C, NC_000012.11:g.10539518G>C, NG_027762.1:g.8123C>G, NM_007360.4:c.132C>G, NM_007360.3:c.132C>G, NM_001199805.1:c.132C>G, NP_031386.2:p.Ser44Arg, NP_001186734.1:p.Ser44Arg

Select item 14905749009.

rs1490574900 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:10381307 (GRCh38)
12:10533906 (GRCh37)
Canonical SPDI:: NC_000012.12:10381306:A:G
Gene:: KLRK1 (Varview), KLRC4-KLRK1 (Varview), KLRK1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.10381307A>G, NC_000012.11:g.10533906A>G, NG_027762.1:g.13735T>C

Select item 149051485610.

rs1490514856 has merged into rs879700584 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A,AA [Show Flanks]
Chromosome:: 12:10379235 (GRCh38)
12:10531835 (GRCh37)
Canonical SPDI:: NC_000012.12:10379235:A:AA,NC_000012.12:10379235:A:AAA
Gene:: KLRK1 (Varview), KLRC4-KLRK1 (Varview), KLRK1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000012.12:g.10379236dup, NC_000012.12:g.10379236_10379237insAA, NC_000012.11:g.10531835dup, NC_000012.11:g.10531835_10531836insAA, NG_027762.1:g.15806dup, NG_027762.1:g.15806_15807insTT

Select item 149051441011.

rs1490514410 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:10379612 (GRCh38)
12:10532211 (GRCh37)
Canonical SPDI:: NC_000012.12:10379611:G:A
Gene:: KLRK1 (Varview), KLRC4-KLRK1 (Varview), KLRK1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.10379612G>A, NC_000012.11:g.10532211G>A, NG_027762.1:g.15430C>T

Select item 149030116212.

rs1490301162 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:10372061 (GRCh38)
12:10524660 (GRCh37)
Canonical SPDI:: NC_000012.12:10372060:G:A
Gene:: KLRK1 (Varview), KLRC4-KLRK1 (Varview), KLRK1-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.10372061G>A, NC_000012.11:g.10524660G>A, NG_027762.1:g.22981C>T

Select item 149026377213.

rs1490263772 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:10387536 (GRCh38)
12:10540135 (GRCh37)
Canonical SPDI:: NC_000012.12:10387535:G:A,NC_000012.12:10387535:G:C
Gene:: KLRK1 (Varview), KLRC4-KLRK1 (Varview), KLRK1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.10387536G>A, NC_000012.12:g.10387536G>C, NC_000012.11:g.10540135G>A, NC_000012.11:g.10540135G>C, NG_027762.1:g.7506C>T, NG_027762.1:g.7506C>G

Select item 149019508314.

rs1490195083 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:10377339 (GRCh38)
12:10529938 (GRCh37)
Canonical SPDI:: NC_000012.12:10377338:G:A
Gene:: KLRK1 (Varview), KLRC4-KLRK1 (Varview), KLRK1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000036/5 (GnomAD)
A=0.000053/14 (TOPMED)
HGVS:: NC_000012.12:g.10377339G>A, NC_000012.11:g.10529938G>A, NG_027762.1:g.17703C>T

Select item 148999270815.

rs1489992708 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:10380328 (GRCh38)
12:10532927 (GRCh37)
Canonical SPDI:: NC_000012.12:10380327:G:A
Gene:: KLRK1 (Varview), KLRC4-KLRK1 (Varview), KLRK1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.10380328G>A, NC_000012.11:g.10532927G>A, NG_027762.1:g.14714C>T

Select item 148979268616.

rs1489792686 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 12:10373612 (GRCh38)
12:10526211 (GRCh37)
Canonical SPDI:: NC_000012.12:10373611:A:C,NC_000012.12:10373611:A:G
Gene:: KLRK1 (Varview), KLRC4-KLRK1 (Varview), KLRK1-AS1 (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.10373612A>C, NC_000012.12:g.10373612A>G, NC_000012.11:g.10526211A>C, NC_000012.11:g.10526211A>G, NG_027762.1:g.21430T>G, NG_027762.1:g.21430T>C

Select item 148975660717.

rs1489756607 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:10394533 (GRCh38)
12:10547132 (GRCh37)
Canonical SPDI:: NC_000012.12:10394532:C:A
Gene:: KLRC4-KLRK1 (Varview), KLRK1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.10394533C>A, NC_000012.11:g.10547132C>A, NG_027762.1:g.509G>T

Select item 148965363318.

rs1489653633 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:10374363 (GRCh38)
12:10526962 (GRCh37)
Canonical SPDI:: NC_000012.12:10374362:A:G
Gene:: KLRK1 (Varview), KLRC4-KLRK1 (Varview), KLRK1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.10374363A>G, NC_000012.11:g.10526962A>G, NG_027762.1:g.20679T>C

Select item 148960623219.

rs1489606232 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:10389104 (GRCh38)
12:10541703 (GRCh37)
Canonical SPDI:: NC_000012.12:10389103:A:C
Gene:: KLRK1 (Varview), KLRC4-KLRK1 (Varview), KLRK1-AS1 (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_000012.12:g.10389104A>C, NC_000012.11:g.10541703A>C, NG_027762.1:g.5938T>G

Select item 148959214320.

rs1489592143 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAT>- [Show Flanks]
Chromosome:: 12:10381440 (GRCh38)
12:10534039 (GRCh37)
Canonical SPDI:: NC_000012.12:10381434:ATCATCAT:ATCAT
Gene:: KLRK1 (Varview), KLRC4-KLRK1 (Varview), KLRK1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATCAT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.10381437CAT[1], NC_000012.11:g.10534036CAT[1], NG_027762.1:g.13602GAT[1]

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