SNP Links for Gene (Select 643763) - SNP

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Select item 14913177441.

rs1491317744 has merged into rs11331273 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAAA,AAAAAATCTCTATCCCAATAAAATTTAAAAAAACCAAAAACAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:62981763 (GRCh38)
8:63894322 (GRCh37)
Canonical SPDI:: NC_000008.11:62981750:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:62981750:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:62981750:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:62981750:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:62981750:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:62981750:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:62981750:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:62981750:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAATCTCTATCCCAATAAAATTTAAAAAAACCAAAAACAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NKAIN3 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.23/1152 (1000Genomes)
-=0.35/14 (GENOME_DK)
HGVS:: NC_000008.11:g.62981763_62981766del, NC_000008.11:g.62981764_62981766del, NC_000008.11:g.62981765_62981766del, NC_000008.11:g.62981766del, NC_000008.11:g.62981766dup, NC_000008.11:g.62981765_62981766dup, NC_000008.11:g.62981762_62981766dup, NC_000008.11:g.62981751_62981766A[18]TC[2]TATCCCAATAAAATTTAAAAAAACCAAAAACAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.63894322_63894325del, NC_000008.10:g.63894323_63894325del, NC_000008.10:g.63894324_63894325del, NC_000008.10:g.63894325del, NC_000008.10:g.63894325dup, NC_000008.10:g.63894324_63894325dup, NC_000008.10:g.63894321_63894325dup, NC_000008.10:g.63894310_63894325A[18]TC[2]TATCCCAATAAAATTTAAAAAAACCAAAAACAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA[1], NM_001304533.3:c.*16356_*16359del, NM_001304533.3:c.*16357_*16359del, NM_001304533.3:c.*16358_*16359del, NM_001304533.3:c.*16359del, NM_001304533.3:c.*16359dup, NM_001304533.3:c.*16358_*16359dup, NM_001304533.3:c.*16355_*16359dup, NM_001304533.3:c.*16344_*16359A[18]TC[2]TATCCCAATAAAATTTAAAAAAACCAAAAACAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA[1], NR_027378.1:n.3903_3906del, NR_027378.1:n.3904_3906del, NR_027378.1:n.3905_3906del, NR_027378.1:n.3906del, NR_027378.1:n.3906dup, NR_027378.1:n.3905_3906dup, NR_027378.1:n.3902_3906dup, NR_027378.1:n.3891_3906A[18]TC[2]TATCCCAATAAAATTTAAAAAAACCAAAAACAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14910860862.

rs1491086086 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 8:62981767 (GRCh38)
8:63894326 (GRCh37)
Canonical SPDI:: NC_000008.11:62981765:AGA:A
Gene:: NKAIN3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.62981767_62981768del, NC_000008.10:g.63894326_63894327del, NM_001304533.3:c.*16360_*16361del, NR_027378.1:n.3907_3908del

Select item 14900909883.

rs1490090988 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:62982090 (GRCh38)
8:63894649 (GRCh37)
Canonical SPDI:: NC_000008.11:62982089:G:A
Gene:: NKAIN3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000008.11:g.62982090G>A, NC_000008.10:g.63894649G>A, NM_001304533.3:c.*16683G>A, NR_027378.1:n.4230G>A

Select item 14900803674.

rs1490080367 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:62980190 (GRCh38)
8:63892749 (GRCh37)
Canonical SPDI:: NC_000008.11:62980189:C:T
Gene:: NKAIN3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.62980190C>T, NC_000008.10:g.63892749C>T, NM_001304533.3:c.*14783C>T, NM_001039769.2:c.*1191C>T, NR_027378.1:n.2330C>T, NM_001039769.1:c.*1190C>T

Select item 14899049605.

rs1489904960 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:62979819 (GRCh38)
8:63892378 (GRCh37)
Canonical SPDI:: NC_000008.11:62979818:C:G
Gene:: NKAIN3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_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_000008.11:g.62979819C>G, NC_000008.10:g.63892378C>G, NM_001304533.3:c.*14412C>G, NM_001039769.2:c.*820C>G, NR_027378.1:n.1959C>G, NM_001039769.1:c.*820C>G

Select item 14886903386.

rs1488690338 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:62985395 (GRCh38)
8:63897954 (GRCh37)
Canonical SPDI:: NC_000008.11:62985394:T:C
Gene:: NKAIN3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.62985395T>C, NC_000008.10:g.63897954T>C

Select item 14885620037.

rs1488562003 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:62982179 (GRCh38)
8:63894738 (GRCh37)
Canonical SPDI:: NC_000008.11:62982178:A:G
Gene:: NKAIN3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.62982179A>G, NC_000008.10:g.63894738A>G, NM_001304533.3:c.*16772A>G, NR_027378.1:n.4319A>G

Select item 14885077508.

rs1488507750 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 8:62984637 (GRCh38)
8:63897196 (GRCh37)
Canonical SPDI:: NC_000008.11:62984636:T:A,NC_000008.11:62984636:T:C
Gene:: NKAIN3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000223/1 (Estonian)
HGVS:: NC_000008.11:g.62984637T>A, NC_000008.11:g.62984637T>C, NC_000008.10:g.63897196T>A, NC_000008.10:g.63897196T>C, NM_001304533.3:c.*19230T>A, NM_001304533.3:c.*19230T>C, NR_027378.1:n.6777T>A, NR_027378.1:n.6777T>C

Select item 14881834749.

rs1488183474 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:62982156 (GRCh38)
8:63894715 (GRCh37)
Canonical SPDI:: NC_000008.11:62982155:C:T
Gene:: NKAIN3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.62982156C>T, NC_000008.10:g.63894715C>T, NM_001304533.3:c.*16749C>T, NR_027378.1:n.4296C>T

Select item 148773377510.

rs1487733775 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:62979851 (GRCh38)
8:63892410 (GRCh37)
Canonical SPDI:: NC_000008.11:62979850:A:T
Gene:: NKAIN3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000038/10 (TOPMED)
T=0.000177/3 (TOMMO)
T=0.000546/1 (Korea1K)
T=0.002396/7 (KOREAN)
T=0.004717/1 (Vietnamese)
HGVS:: NC_000008.11:g.62979851A>T, NC_000008.10:g.63892410A>T, NM_001304533.3:c.*14444A>T, NM_001039769.2:c.*852A>T, NR_027378.1:n.1991A>T, NM_001039769.1:c.*852A>T

Select item 148706411711.

rs1487064117 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:62984080 (GRCh38)
8:63896639 (GRCh37)
Canonical SPDI:: NC_000008.11:62984079:T:C
Gene:: NKAIN3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000008.11:g.62984080T>C, NC_000008.10:g.63896639T>C, NM_001304533.3:c.*18673T>C, NR_027378.1:n.6220T>C

Select item 148690298712.

rs1486902987 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:62979776 (GRCh38)
8:63892335 (GRCh37)
Canonical SPDI:: NC_000008.11:62979775:G:C
Gene:: NKAIN3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_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_000008.11:g.62979776G>C, NC_000008.10:g.63892335G>C, NM_001304533.3:c.*14369G>C, NM_001039769.2:c.*777G>C, NR_027378.1:n.1916G>C, NM_001039769.1:c.*777G>C

Select item 148669000613.

rs1486690006 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:62982705 (GRCh38)
8:63895264 (GRCh37)
Canonical SPDI:: NC_000008.11:62982704:G:C
Gene:: NKAIN3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_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_000008.11:g.62982705G>C, NC_000008.10:g.63895264G>C, NM_001304533.3:c.*17298G>C, NR_027378.1:n.4845G>C

Select item 148583799914.

rs1485837999 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:62983616 (GRCh38)
8:63896175 (GRCh37)
Canonical SPDI:: NC_000008.11:62983615:C:A,NC_000008.11:62983615:C:T
Gene:: NKAIN3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.62983616C>A, NC_000008.11:g.62983616C>T, NC_000008.10:g.63896175C>A, NC_000008.10:g.63896175C>T, NM_001304533.3:c.*18209C>A, NM_001304533.3:c.*18209C>T, NR_027378.1:n.5756C>A, NR_027378.1:n.5756C>T

Select item 148564252715.

rs1485642527 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:62985209 (GRCh38)
8:63897768 (GRCh37)
Canonical SPDI:: NC_000008.11:62985208:C:T
Gene:: NKAIN3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.62985209C>T, NC_000008.10:g.63897768C>T

Select item 148561080816.

rs1485610808 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:62984034 (GRCh38)
8:63896593 (GRCh37)
Canonical SPDI:: NC_000008.11:62984033:A:G
Gene:: NKAIN3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,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_000008.11:g.62984034A>G, NC_000008.10:g.63896593A>G, NM_001304533.3:c.*18627A>G, NR_027378.1:n.6174A>G

Select item 148556078917.

rs1485560789 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:62985040 (GRCh38)
8:63897599 (GRCh37)
Canonical SPDI:: NC_000008.11:62985039:A:G
Gene:: NKAIN3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.62985040A>G, NC_000008.10:g.63897599A>G

Select item 148496878018.

rs1484968780 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:62983966 (GRCh38)
8:63896525 (GRCh37)
Canonical SPDI:: NC_000008.11:62983965:C:T
Gene:: NKAIN3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.62983966C>T, NC_000008.10:g.63896525C>T, NM_001304533.3:c.*18559C>T, NR_027378.1:n.6106C>T

Select item 148490743819.

rs1484907438 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:62983124 (GRCh38)
8:63895683 (GRCh37)
Canonical SPDI:: NC_000008.11:62983123:C:T
Gene:: NKAIN3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.00003/8 (TOPMED)
T=0.000106/2 (TOMMO)
T=0.000156/1 (1000Genomes)
T=0.000546/1 (Korea1K)
T=0.000684/2 (KOREAN)
HGVS:: NC_000008.11:g.62983124C>T, NC_000008.10:g.63895683C>T, NM_001304533.3:c.*17717C>T, NR_027378.1:n.5264C>T

Select item 148468446320.

rs1484684463 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:62981205 (GRCh38)
8:63893764 (GRCh37)
Canonical SPDI:: NC_000008.11:62981204:T:C
Gene:: NKAIN3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000008.11:g.62981205T>C, NC_000008.10:g.63893764T>C, NM_001304533.3:c.*15798T>C, NM_001039769.2:c.*2206T>C, NR_027378.1:n.3345T>C, NM_001039769.1:c.*2205T>C

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