SNP Links for Gene (Select 100506343) - SNP

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Select item 14914673811.

rs1491467381 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 1:111745228 (GRCh38)
1:112287851 (GRCh37)
Canonical SPDI:: NC_000001.11:111745228:T:TGT
Gene:: INKA2 (Varview), INKA2-AS1 (Varview), LOC101928718 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGT=0./0 (ALFA)
TG=0.000018/2 (GnomAD)
TG=0.001095/2 (Korea1K)
TG=0.001133/19 (TOMMO)
HGVS:: NC_000001.11:g.111745229_111745230insGT, NC_000001.10:g.112287851_112287852insGT

Select item 14914226832.

rs1491422683 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CACAGA,CAGA [Show Flanks]
Chromosome:: 1:111745257 (GRCh38)
1:112287880 (GRCh37)
Canonical SPDI:: NC_000001.11:111745257:A:ACACAGA,NC_000001.11:111745257:A:ACAGA
Gene:: INKA2 (Varview), INKA2-AS1 (Varview), LOC101928718 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACAGA=0./0 (ALFA)
HGVS:: NC_000001.11:g.111745258AC[2]AGA[1], NC_000001.11:g.111745258_111745259insCAGA, NC_000001.10:g.112287880AC[2]AGA[1], NC_000001.10:g.112287880_112287881insCAGA

Select item 14912158843.

rs1491215884 has merged into rs200702069 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:111745298 (GRCh38)
1:112287920 (GRCh37)
Canonical SPDI:: NC_000001.11:111745293:TTTTTTTTTTTTTTTTTTTTT:TTTT,NC_000001.11:111745293:TTTTTTTTTTTTTTTTTTTTT:TTTTTT,NC_000001.11:111745293:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000001.11:111745293:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:111745293:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:111745293:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:111745293:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:111745293:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:111745293:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:111745293:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:111745293:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:111745293:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:111745293:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:111745293:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:111745293:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:111745293:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111745293:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111745293:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111745293:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111745293:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111745293:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111745293:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111745293:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: INKA2 (Varview), INKA2-AS1 (Varview), LOC101928718 (Varview)
Functional Consequence:: 500B_downstream_variant,genic_upstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.111745298_111745314del, NC_000001.11:g.111745300_111745314del, NC_000001.11:g.111745302_111745314del, NC_000001.11:g.111745303_111745314del, NC_000001.11:g.111745304_111745314del, NC_000001.11:g.111745305_111745314del, NC_000001.11:g.111745306_111745314del, NC_000001.11:g.111745307_111745314del, NC_000001.11:g.111745308_111745314del, NC_000001.11:g.111745309_111745314del, NC_000001.11:g.111745310_111745314del, NC_000001.11:g.111745311_111745314del, NC_000001.11:g.111745312_111745314del, NC_000001.11:g.111745313_111745314del, NC_000001.11:g.111745314del, NC_000001.11:g.111745314dup, NC_000001.11:g.111745313_111745314dup, NC_000001.11:g.111745312_111745314dup, NC_000001.11:g.111745311_111745314dup, NC_000001.11:g.111745310_111745314dup, NC_000001.11:g.111745309_111745314dup, NC_000001.11:g.111745308_111745314dup, NC_000001.11:g.111745307_111745314dup, NC_000001.10:g.112287920_112287936del, NC_000001.10:g.112287922_112287936del, NC_000001.10:g.112287924_112287936del, NC_000001.10:g.112287925_112287936del, NC_000001.10:g.112287926_112287936del, NC_000001.10:g.112287927_112287936del, NC_000001.10:g.112287928_112287936del, NC_000001.10:g.112287929_112287936del, NC_000001.10:g.112287930_112287936del, NC_000001.10:g.112287931_112287936del, NC_000001.10:g.112287932_112287936del, NC_000001.10:g.112287933_112287936del, NC_000001.10:g.112287934_112287936del, NC_000001.10:g.112287935_112287936del, NC_000001.10:g.112287936del, NC_000001.10:g.112287936dup, NC_000001.10:g.112287935_112287936dup, NC_000001.10:g.112287934_112287936dup, NC_000001.10:g.112287933_112287936dup, NC_000001.10:g.112287932_112287936dup, NC_000001.10:g.112287931_112287936dup, NC_000001.10:g.112287930_112287936dup, NC_000001.10:g.112287929_112287936dup

Select item 14899693644.

rs1489969364 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:111738650 (GRCh38)
1:112281272 (GRCh37)
Canonical SPDI:: NC_000001.11:111738649:C:T
Gene:: INKA2 (Varview), INKA2-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000001.11:g.111738650C>T, NC_000001.10:g.112281272C>T

Select item 14897458175.

rs1489745817 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:111741407 (GRCh38)
1:112284029 (GRCh37)
Canonical SPDI:: NC_000001.11:111741406:T:C
Gene:: INKA2 (Varview), INKA2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.111741407T>C, NC_000001.10:g.112284029T>C

Select item 14896872766.

rs1489687276 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:111744810 (GRCh38)
1:112287432 (GRCh37)
Canonical SPDI:: NC_000001.11:111744809:G:T
Gene:: INKA2 (Varview), INKA2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.111744810G>T, NC_000001.10:g.112287432G>T

Select item 14889787717.

rs1488978771 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:111739191 (GRCh38)
1:112281813 (GRCh37)
Canonical SPDI:: NC_000001.11:111739190:C:G
Gene:: INKA2 (Varview), INKA2-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.111739191C>G, NC_000001.10:g.112281813C>G, NM_019099.5:c.52G>C, NM_019099.4:c.52G>C, XM_011541783.3:c.-263G>C, XM_011541783.2:c.-263G>C, XM_011541783.1:c.-263G>C, NP_061972.1:p.Glu18Gln

Select item 14887626318.

rs1488762631 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:111742110 (GRCh38)
1:112284732 (GRCh37)
Canonical SPDI:: NC_000001.11:111742109:G:A
Gene:: INKA2 (Varview), INKA2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.111742110G>A, NC_000001.10:g.112284732G>A

Select item 14883472109.

rs1488347210 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 1:111741378 (GRCh38)
1:112284000 (GRCh37)
Canonical SPDI:: NC_000001.11:111741377:T:
Gene:: INKA2 (Varview), INKA2-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.111741378del, NC_000001.10:g.112284000del

Select item 148774669410.

rs1487746694 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:111741176 (GRCh38)
1:112283798 (GRCh37)
Canonical SPDI:: NC_000001.11:111741175:T:C
Gene:: INKA2 (Varview), INKA2-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.111741176T>C, NC_000001.10:g.112283798T>C

Select item 148772536811.

rs1487725368 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:111745289 (GRCh38)
1:112287911 (GRCh37)
Canonical SPDI:: NC_000001.11:111745288:A:T
Gene:: INKA2 (Varview), INKA2-AS1 (Varview), LOC101928718 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00025/12 (GnomAD)
T=0.00166/26 (TOMMO)
T=0.00803/20 (KOREAN)
A=0.5/3 (SGDP_PRJ)
HGVS:: NC_000001.11:g.111745289A>T, NC_000001.10:g.112287911A>T

Select item 148767704712.

rs1487677047 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:111745902 (GRCh38)
1:112288524 (GRCh37)
Canonical SPDI:: NC_000001.11:111745901:G:A
Gene:: INKA2 (Varview), INKA2-AS1 (Varview), LOC101928718 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.111745902G>A, NC_000001.10:g.112288524G>A, NR_125963.1:n.2182C>T

Select item 148743577913.

rs1487435779 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:111745944 (GRCh38)
1:112288566 (GRCh37)
Canonical SPDI:: NC_000001.11:111745943:T:C
Gene:: INKA2 (Varview), INKA2-AS1 (Varview), LOC101928718 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_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_000001.11:g.111745944T>C, NC_000001.10:g.112288566T>C, NR_125963.1:n.2140A>G

Select item 148739693114.

rs1487396931 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:111745327 (GRCh38)
1:112287949 (GRCh37)
Canonical SPDI:: NC_000001.11:111745326:C:T
Gene:: INKA2 (Varview), INKA2-AS1 (Varview), LOC101928718 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.111745327C>T, NC_000001.10:g.112287949C>T, NR_125963.1:n.2757G>A

Select item 148669403415.

rs1486694034 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:111747132 (GRCh38)
1:112289754 (GRCh37)
Canonical SPDI:: NC_000001.11:111747131:C:T
Gene:: INKA2 (Varview), INKA2-AS1 (Varview), LOC101928718 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.00003/8 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.111747132C>T, NC_000001.10:g.112289754C>T, NR_125963.1:n.952G>A, NR_038951.1:n.1465C>T, NR_038952.1:n.1310C>T

Select item 148626983616.

rs1486269836 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:111740038 (GRCh38)
1:112282660 (GRCh37)
Canonical SPDI:: NC_000001.11:111740037:A:C,NC_000001.11:111740037:A:G
Gene:: INKA2 (Varview), INKA2-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.111740038A>C, NC_000001.11:g.111740038A>G, NC_000001.10:g.112282660A>C, NC_000001.10:g.112282660A>G, NR_038951.1:n.198A>C, NR_038951.1:n.198A>G, NR_038952.1:n.198A>C, NR_038952.1:n.198A>G

Select item 148617881717.

rs1486178817 has merged into rs869221820 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:111740983 (GRCh38)
1:112283605 (GRCh37)
Canonical SPDI:: NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111740971:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: INKA2 (Varview), INKA2-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.111740983_111741018del, NC_000001.11:g.111740984_111741018del, NC_000001.11:g.111740985_111741018del, NC_000001.11:g.111740986_111741018del, NC_000001.11:g.111740987_111741018del, NC_000001.11:g.111740988_111741018del, NC_000001.11:g.111740989_111741018del, NC_000001.11:g.111740990_111741018del, NC_000001.11:g.111740991_111741018del, NC_000001.11:g.111740992_111741018del, NC_000001.11:g.111740993_111741018del, NC_000001.11:g.111740994_111741018del, NC_000001.11:g.111740995_111741018del, NC_000001.11:g.111740996_111741018del, NC_000001.11:g.111740997_111741018del, NC_000001.11:g.111740998_111741018del, NC_000001.11:g.111740999_111741018del, NC_000001.11:g.111741000_111741018del, NC_000001.11:g.111741001_111741018del, NC_000001.11:g.111741002_111741018del, NC_000001.11:g.111741003_111741018del, NC_000001.11:g.111741004_111741018del, NC_000001.11:g.111741005_111741018del, NC_000001.11:g.111741006_111741018del, NC_000001.11:g.111741007_111741018del, NC_000001.11:g.111741008_111741018del, NC_000001.11:g.111741009_111741018del, NC_000001.11:g.111741010_111741018del, NC_000001.11:g.111741011_111741018del, NC_000001.11:g.111741012_111741018del, NC_000001.11:g.111741013_111741018del, NC_000001.11:g.111741014_111741018del, NC_000001.11:g.111741015_111741018del, NC_000001.11:g.111741016_111741018del, NC_000001.11:g.111741017_111741018del, NC_000001.11:g.111741018del, NC_000001.11:g.111741017_111741018dup, NC_000001.11:g.111741016_111741018dup, NC_000001.11:g.111741015_111741018dup, NC_000001.11:g.111741014_111741018dup, NC_000001.11:g.111741013_111741018dup, NC_000001.11:g.111741012_111741018dup, NC_000001.11:g.111741011_111741018dup, NC_000001.11:g.111741010_111741018dup, NC_000001.11:g.111741009_111741018dup, NC_000001.11:g.111741008_111741018dup, NC_000001.11:g.111741007_111741018dup, NC_000001.11:g.111741006_111741018dup, NC_000001.11:g.111741002_111741018dup, NC_000001.11:g.111741001_111741018dup, NC_000001.11:g.111741000_111741018dup, NC_000001.10:g.112283605_112283640del, NC_000001.10:g.112283606_112283640del, NC_000001.10:g.112283607_112283640del, NC_000001.10:g.112283608_112283640del, NC_000001.10:g.112283609_112283640del, NC_000001.10:g.112283610_112283640del, NC_000001.10:g.112283611_112283640del, NC_000001.10:g.112283612_112283640del, NC_000001.10:g.112283613_112283640del, NC_000001.10:g.112283614_112283640del, NC_000001.10:g.112283615_112283640del, NC_000001.10:g.112283616_112283640del, NC_000001.10:g.112283617_112283640del, NC_000001.10:g.112283618_112283640del, NC_000001.10:g.112283619_112283640del, NC_000001.10:g.112283620_112283640del, NC_000001.10:g.112283621_112283640del, NC_000001.10:g.112283622_112283640del, NC_000001.10:g.112283623_112283640del, NC_000001.10:g.112283624_112283640del, NC_000001.10:g.112283625_112283640del, NC_000001.10:g.112283626_112283640del, NC_000001.10:g.112283627_112283640del, NC_000001.10:g.112283628_112283640del, NC_000001.10:g.112283629_112283640del, NC_000001.10:g.112283630_112283640del, NC_000001.10:g.112283631_112283640del, NC_000001.10:g.112283632_112283640del, NC_000001.10:g.112283633_112283640del, NC_000001.10:g.112283634_112283640del, NC_000001.10:g.112283635_112283640del, NC_000001.10:g.112283636_112283640del, NC_000001.10:g.112283637_112283640del, NC_000001.10:g.112283638_112283640del, NC_000001.10:g.112283639_112283640del, NC_000001.10:g.112283640del, NC_000001.10:g.112283639_112283640dup, NC_000001.10:g.112283638_112283640dup, NC_000001.10:g.112283637_112283640dup, NC_000001.10:g.112283636_112283640dup, NC_000001.10:g.112283635_112283640dup, NC_000001.10:g.112283634_112283640dup, NC_000001.10:g.112283633_112283640dup, NC_000001.10:g.112283632_112283640dup, NC_000001.10:g.112283631_112283640dup, NC_000001.10:g.112283630_112283640dup, NC_000001.10:g.112283629_112283640dup, NC_000001.10:g.112283628_112283640dup, NC_000001.10:g.112283624_112283640dup, NC_000001.10:g.112283623_112283640dup, NC_000001.10:g.112283622_112283640dup

Select item 148596489318.

rs1485964893 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:111746200 (GRCh38)
1:112288822 (GRCh37)
Canonical SPDI:: NC_000001.11:111746199:C:T
Gene:: INKA2 (Varview), INKA2-AS1 (Varview), LOC101928718 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.111746200C>T, NC_000001.10:g.112288822C>T, NR_125963.1:n.1884G>A, NR_038951.1:n.533C>T, NR_038952.1:n.378C>T

Select item 148571672719.

rs1485716727 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:111746927 (GRCh38)
1:112289549 (GRCh37)
Canonical SPDI:: NC_000001.11:111746926:C:T
Gene:: INKA2 (Varview), INKA2-AS1 (Varview), LOC101928718 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000023/6 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.111746927C>T, NC_000001.10:g.112289549C>T, NR_125963.1:n.1157G>A, NR_038951.1:n.1260C>T, NR_038952.1:n.1105C>T

Select item 148539101720.

rs1485391017 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:111747504 (GRCh38)
1:112290126 (GRCh37)
Canonical SPDI:: NC_000001.11:111747503:T:C
Gene:: INKA2 (Varview), INKA2-AS1 (Varview), LOC101928718 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000001.11:g.111747504T>C, NC_000001.10:g.112290126T>C, NR_125963.1:n.580A>G, NR_038951.1:n.1837T>C, NR_038952.1:n.1682T>C

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