SNP Links for Gene (Select 57524) - SNP

Links from Gene

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14911671531.

rs1491167153 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 16:2195972 (GRCh38)
16:2245974 (GRCh37)
Canonical SPDI:: NC_000016.10:2195972:T:TT
Gene:: CASKIN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.2195973dup, NC_000016.9:g.2245974dup

Select item 14911169052.

rs1491116905 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 16:2195973 (GRCh38)
16:2245974 (GRCh37)
Canonical SPDI:: NC_000016.10:2195971:GTG:G
Gene:: CASKIN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.001423/20 (ALFA)
-=0.001473/390 (TOPMED)
-=0.001735/236 (GnomAD)
-=0.002186/14 (1000Genomes)
-=0.009424/17 (Korea1K)
HGVS:: NC_000016.10:g.2195973_2195974del, NC_000016.9:g.2245974_2245975del

Select item 14909566933.

rs1490956693 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:2179099 (GRCh38)
16:2229100 (GRCh37)
Canonical SPDI:: NC_000016.10:2179098:G:C
Gene:: CASKIN1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000016.10:g.2179099G>C, NC_000016.9:g.2229100G>C, NM_020764.4:c.4002C>G, NM_020764.3:c.4002C>G, XM_024450361.2:c.3789C>G, XM_024450361.1:c.3789C>G

Select item 14908360644.

rs1490836064 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:2195314 (GRCh38)
16:2245315 (GRCh37)
Canonical SPDI:: NC_000016.10:2195313:G:A,NC_000016.10:2195313:G:C
Gene:: CASKIN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.2195314G>A, NC_000016.10:g.2195314G>C, NC_000016.9:g.2245315G>A, NC_000016.9:g.2245315G>C

Select item 14906946145.

rs1490694614 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:2184078 (GRCh38)
16:2234079 (GRCh37)
Canonical SPDI:: NC_000016.10:2184077:C:G,NC_000016.10:2184077:C:T
Gene:: CASKIN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.2184078C>G, NC_000016.10:g.2184078C>T, NC_000016.9:g.2234079C>G, NC_000016.9:g.2234079C>T

Select item 14905835576.

rs1490583557 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCTGAGCCCCAGGCTGC>- [Show Flanks]
Chromosome:: 16:2188958 (GRCh38)
16:2238959 (GRCh37)
Canonical SPDI:: NC_000016.10:2188954:TGCCCTGAGCCCCAGGCTGC:TGC
Gene:: CASKIN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.2188958_2188974del, NC_000016.9:g.2238959_2238975del

Select item 14905742367.

rs1490574236 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:2180372 (GRCh38)
16:2230373 (GRCh37)
Canonical SPDI:: NC_000016.10:2180371:C:A
Gene:: CASKIN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.00001/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.2180372C>A, NC_000016.9:g.2230373C>A, NM_020764.4:c.2996G>T, NM_020764.3:c.2996G>T, XM_024450361.2:c.2783G>T, XM_024450361.1:c.2783G>T, NP_065815.1:p.Gly999Val, XP_024306129.1:p.Gly928Val

Select item 14905117288.

rs1490511728 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:2193236 (GRCh38)
16:2243237 (GRCh37)
Canonical SPDI:: NC_000016.10:2193235:C:T
Gene:: CASKIN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000049/13 (TOPMED)
T=0.000078/11 (GnomAD)
T=0.000546/1 (Korea1K)
HGVS:: NC_000016.10:g.2193236C>T, NC_000016.9:g.2243237C>T

Select item 14903142459.

rs1490314245 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:2195018 (GRCh38)
16:2245019 (GRCh37)
Canonical SPDI:: NC_000016.10:2195017:T:C
Gene:: CASKIN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.2195018T>C, NC_000016.9:g.2245019T>C

Select item 149020905610.

rs1490209056 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:2183774 (GRCh38)
16:2233775 (GRCh37)
Canonical SPDI:: NC_000016.10:2183773:A:G
Gene:: CASKIN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.2183774A>G, NC_000016.9:g.2233775A>G

Select item 149019332111.

rs1490193321 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:2183039 (GRCh38)
16:2233040 (GRCh37)
Canonical SPDI:: NC_000016.10:2183038:G:A
Gene:: CASKIN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000029/4 (GnomAD)
A=0.000035/1 (TOMMO)
A=0.000342/1 (KOREAN)
HGVS:: NC_000016.10:g.2183039G>A, NC_000016.9:g.2233040G>A

Select item 149009667112.

rs1490096671 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:2188620 (GRCh38)
16:2238621 (GRCh37)
Canonical SPDI:: NC_000016.10:2188619:G:A
Gene:: CASKIN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000016.10:g.2188620G>A, NC_000016.9:g.2238621G>A

Select item 149000600913.

rs1490006009 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:2181574 (GRCh38)
16:2231575 (GRCh37)
Canonical SPDI:: NC_000016.10:2181573:A:G
Gene:: CASKIN1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000053/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000012/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.2181574A>G, NC_000016.9:g.2231575A>G, NM_020764.4:c.1794T>C, NM_020764.3:c.1794T>C, XM_024450361.2:c.1581T>C, XM_024450361.1:c.1581T>C

Select item 148997715914.

rs1489977159 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:2181121 (GRCh38)
16:2231122 (GRCh37)
Canonical SPDI:: NC_000016.10:2181120:G:A,NC_000016.10:2181120:G:C
Gene:: CASKIN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0./0 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.2181121G>A, NC_000016.10:g.2181121G>C, NC_000016.9:g.2231122G>A, NC_000016.9:g.2231122G>C, NM_020764.4:c.2247C>T, NM_020764.4:c.2247C>G, NM_020764.3:c.2247C>T, NM_020764.3:c.2247C>G, XM_024450361.2:c.2034C>T, XM_024450361.2:c.2034C>G, XM_024450361.1:c.2034C>T, XM_024450361.1:c.2034C>G, NP_065815.1:p.His749Gln, XP_024306129.1:p.His678Gln

Select item 148975406315.

rs1489754063 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:2188607 (GRCh38)
16:2238608 (GRCh37)
Canonical SPDI:: NC_000016.10:2188606:T:A
Gene:: CASKIN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.2188607T>A, NC_000016.9:g.2238608T>A

Select item 148963420516.

rs1489634205 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:2193846 (GRCh38)
16:2243847 (GRCh37)
Canonical SPDI:: NC_000016.10:2193845:C:T
Gene:: CASKIN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.2193846C>T, NC_000016.9:g.2243847C>T

Select item 148960998217.

rs1489609982 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 16:2196633 (GRCh38)
16:2246634 (GRCh37)
Canonical SPDI:: NC_000016.10:2196632:GGGGGG:GGGGG,NC_000016.10:2196632:GGGGGG:GGGGGGG
Gene:: CASKIN1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
-=0.000022/3 (GnomAD)
HGVS:: NC_000016.10:g.2196638del, NC_000016.10:g.2196638dup, NC_000016.9:g.2246639del, NC_000016.9:g.2246639dup

Select item 148958385318.

rs1489583853 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 16:2196325 (GRCh38)
16:2246326 (GRCh37)
Canonical SPDI:: NC_000016.10:2196324:CCCCC:CCCC
Gene:: CASKIN1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000016.10:g.2196329del, NC_000016.9:g.2246330del

Select item 148954105419.

rs1489541054 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:2179448 (GRCh38)
16:2229449 (GRCh37)
Canonical SPDI:: NC_000016.10:2179447:C:T
Gene:: CASKIN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000425/7 (TOMMO)
HGVS:: NC_000016.10:g.2179448C>T, NC_000016.9:g.2229449C>T

Select item 148952093820.

rs1489520938 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:2178139 (GRCh38)
16:2228140 (GRCh37)
Canonical SPDI:: NC_000016.10:2178138:G:A
Gene:: CASKIN1 (Varview), TRAF7 (Varview)
Functional Consequence:: 3_prime_UTR_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.2178139G>A, NC_000016.9:g.2228140G>A, NM_020764.4:c.*411C>T, NM_020764.3:c.*411C>T, XM_024450361.2:c.*411C>T, XM_024450361.1:c.*411C>T

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 1000

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity