SNP Links for Gene (Select 113220) - SNP

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Select item 14914088101.

rs1491408810 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 9:114096169 (GRCh38)
9:116858450 (GRCh37)
Canonical SPDI:: NC_000009.12:114096169:GGGGG:GGGGGG
Gene:: KIF12 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,frameshift_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.114096174dup, NC_000009.11:g.116858454dup, NG_051222.1:g.8915dup, NM_138424.2:c.362dup, NM_138424.1:c.362dup, NM_001388308.1:c.776dup, XM_005251683.6:c.776dup, XM_005251683.5:c.776dup, XM_005251683.4:c.776dup, XM_005251683.3:c.776dup, XM_005251683.2:c.776dup, XM_005251683.1:c.776dup, XM_006716947.3:c.674dup, XM_006716947.2:c.674dup, XM_006716947.1:c.674dup, XM_024447406.2:c.362dup, XM_024447406.1:c.362dup, XM_047422709.1:c.362dup, XR_007061240.1:n.824dup, XM_047422710.1:c.362dup, XR_007061239.1:n.824dup, NP_612433.1:p.Val122fs, NP_001375237.1:p.Val260fs, XP_005251740.1:p.Val260fs, XP_006717010.1:p.Val226fs, XP_024303174.1:p.Val122fs, XP_047278665.1:p.Val122fs, XP_047278666.1:p.Val122fs

Select item 14913409432.

rs1491340943 [Homo sapiens]

Variant type:: SNV:
Alleles:: >
Chromosome:: no mapping
Canonical SPDI:

Select item 14913335273.

rs1491333527 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 9:114096169 (GRCh38)
9:116858449 (GRCh37)
Canonical SPDI:: NC_000009.12:114096168:AG:
Gene:: KIF12 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.114096169_114096170del, NC_000009.11:g.116858449_116858450del, NG_051222.1:g.8915_8916del, NM_138424.2:c.362_363del, NM_138424.1:c.362_363del, NM_001388308.1:c.776_777del, XM_005251683.6:c.776_777del, XM_005251683.5:c.776_777del, XM_005251683.4:c.776_777del, XM_005251683.3:c.776_777del, XM_005251683.2:c.776_777del, XM_005251683.1:c.776_777del, XM_006716947.3:c.674_675del, XM_006716947.2:c.674_675del, XM_006716947.1:c.674_675del, XM_024447406.2:c.362_363del, XM_024447406.1:c.362_363del, XM_047422709.1:c.362_363del, XR_007061240.1:n.824_825del, XM_047422710.1:c.362_363del, XR_007061239.1:n.824_825del, NP_612433.1:p.Pro121fs, NP_001375237.1:p.Pro259fs, XP_005251740.1:p.Pro259fs, XP_006717010.1:p.Pro225fs, XP_024303174.1:p.Pro121fs, XP_047278665.1:p.Pro121fs, XP_047278666.1:p.Pro121fs

Select item 14912091784.

rs1491209178 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 9:114091291 (GRCh38)
9:116853571 (GRCh37)
Canonical SPDI:: NC_000009.12:114091290:TA:
Gene:: KIF12 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000009.12:g.114091291_114091292del, NC_000009.11:g.116853571_116853572del, NG_051222.1:g.13793_13794del

Select item 14911909015.

rs1491190901 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>- [Show Flanks]
Chromosome:: 9:114098522 (GRCh38)
9:116860802 (GRCh37)
Canonical SPDI:: NC_000009.12:114098520:GGG:G
Gene:: KIF12 (Varview), LOC124902251 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.00036/20 (GnomAD)
HGVS:: NC_000009.12:g.114098522_114098523del, NC_000009.11:g.116860802_116860803del, NG_051222.1:g.6563_6564del

Select item 14911637226.

rs1491163722 has merged into rs71367746 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 9:114091305 (GRCh38)
9:116853585 (GRCh37)
Canonical SPDI:: NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: KIF12 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.3151/1578 (1000Genomes)
HGVS:: NC_000009.12:g.114091305_114091308del, NC_000009.12:g.114091306_114091308del, NC_000009.12:g.114091307_114091308del, NC_000009.12:g.114091308del, NC_000009.12:g.114091308dup, NC_000009.12:g.114091307_114091308dup, NC_000009.12:g.114091306_114091308dup, NC_000009.12:g.114091305_114091308dup, NC_000009.12:g.114091304_114091308dup, NC_000009.12:g.114091303_114091308dup, NC_000009.11:g.116853585_116853588del, NC_000009.11:g.116853586_116853588del, NC_000009.11:g.116853587_116853588del, NC_000009.11:g.116853588del, NC_000009.11:g.116853588dup, NC_000009.11:g.116853587_116853588dup, NC_000009.11:g.116853586_116853588dup, NC_000009.11:g.116853585_116853588dup, NC_000009.11:g.116853584_116853588dup, NC_000009.11:g.116853583_116853588dup, NG_051222.1:g.13790_13793del, NG_051222.1:g.13791_13793del, NG_051222.1:g.13792_13793del, NG_051222.1:g.13793del, NG_051222.1:g.13793dup, NG_051222.1:g.13792_13793dup, NG_051222.1:g.13791_13793dup, NG_051222.1:g.13790_13793dup, NG_051222.1:g.13789_13793dup, NG_051222.1:g.13788_13793dup

Select item 14906848427.

rs1490684842 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 9:114101547 (GRCh38)
9:116863827 (GRCh37)
Canonical SPDI:: NC_000009.12:114101546:AG:
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
-=0.000142/2 (TOMMO)
HGVS:: NC_000009.12:g.114101547_114101548del, NC_000009.11:g.116863827_116863828del, NG_051222.1:g.3537_3538del

Select item 14906803898.

rs1490680389 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:114099209 (GRCh38)
9:116861489 (GRCh37)
Canonical SPDI:: NC_000009.12:114099208:G:A
Gene:: KIF12 (Varview), LOC124902251 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000009.12:g.114099209G>A, NC_000009.11:g.116861489G>A, NG_051222.1:g.5876C>T, XM_006716947.3:c.-93C>T, XM_006716947.2:c.-93C>T, XM_006716947.1:c.-93C>T, XR_007061740.1:n.216G>A

Select item 14902543599.

rs1490254359 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:114098466 (GRCh38)
9:116860746 (GRCh37)
Canonical SPDI:: NC_000009.12:114098465:A:G
Gene:: KIF12 (Varview), LOC124902251 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000084/1 (ALFA)
G=0.000018/2 (GnomAD)
G=0.013194/38 (KOREAN)
HGVS:: NC_000009.12:g.114098466A>G, NC_000009.11:g.116860746A>G, NG_051222.1:g.6619T>C

Select item 149018900910.

rs1490189009 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:114100369 (GRCh38)
9:116862649 (GRCh37)
Canonical SPDI:: NC_000009.12:114100368:T:C
Gene:: KIF12 (Varview), LOC124902251 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
C=0.000602/10 (TOMMO)
C=0.001369/4 (KOREAN)
C=0.002183/4 (Korea1K)
HGVS:: NC_000009.12:g.114100369T>C, NC_000009.11:g.116862649T>C, NG_051222.1:g.4716A>G, XR_007061740.1:n.1376T>C

Select item 148936852811.

rs1489368528 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:114098114 (GRCh38)
9:116860394 (GRCh37)
Canonical SPDI:: NC_000009.12:114098113:C:G
Gene:: KIF12 (Varview), LOC124902251 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,splice_donor_variant
Validated:: by frequency
MAF:: G=0.000021/3 (GnomAD_exomes)
HGVS:: NC_000009.12:g.114098114C>G, NC_000009.11:g.116860394C>G, NG_051222.1:g.6971G>C

Select item 148910945212.

rs1489109452 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGTG [Show Flanks]
Chromosome:: 9:114095993 (GRCh38)
9:116858274 (GRCh37)
Canonical SPDI:: NC_000009.12:114095993:TGTG:TGTGTGTG
Gene:: KIF12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTG=0./0 (ALFA)
TGTG=0.000011/3 (TOPMED)
TGTG=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.114095994TG[4], NC_000009.11:g.116858274TG[4], NG_051222.1:g.9088CA[4]

Select item 148899207013.

rs1488992070 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:114095798 (GRCh38)
9:116858078 (GRCh37)
Canonical SPDI:: NC_000009.12:114095797:T:C
Gene:: KIF12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000009.12:g.114095798T>C, NC_000009.11:g.116858078T>C, NG_051222.1:g.9287A>G

Select item 148839743614.

rs1488397436 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:114092381 (GRCh38)
9:116854661 (GRCh37)
Canonical SPDI:: NC_000009.12:114092380:C:T
Gene:: KIF12 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.114092381C>T, NC_000009.11:g.116854661C>T, NG_051222.1:g.12704G>A, NM_138424.2:c.1354G>A, NM_138424.1:c.1354G>A, NM_001388308.1:c.1768G>A, XM_005251683.6:c.1768G>A, XM_005251683.5:c.1768G>A, XM_005251683.4:c.1768G>A, XM_005251683.3:c.1768G>A, XM_005251683.2:c.1768G>A, XM_005251683.1:c.1768G>A, XM_006716947.3:c.1666G>A, XM_006716947.2:c.1666G>A, XM_006716947.1:c.1666G>A, XM_047422709.1:c.1354G>A, XM_047422710.1:c.1354G>A, XM_047422711.1:c.973G>A, NP_612433.1:p.Ala452Thr, NP_001375237.1:p.Ala590Thr, XP_005251740.1:p.Ala590Thr, XP_006717010.1:p.Ala556Thr, XP_047278665.1:p.Ala452Thr, XP_047278666.1:p.Ala452Thr, XP_047278667.1:p.Ala325Thr

Select item 148828698515.

rs1488286985 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:114093512 (GRCh38)
9:116855792 (GRCh37)
Canonical SPDI:: NC_000009.12:114093511:A:G
Gene:: KIF12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000006/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.114093512A>G, NC_000009.11:g.116855792A>G, NG_051222.1:g.11573T>C

Select item 148780476616.

rs1487804766 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:114101739 (GRCh38)
9:116864019 (GRCh37)
Canonical SPDI:: NC_000009.12:114101738:T:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000528/74 (GnomAD)
G=0.000536/142 (TOPMED)
HGVS:: NC_000009.12:g.114101739T>G, NC_000009.11:g.116864019T>G, NG_051222.1:g.3346A>C

Select item 148752098917.

rs1487520989 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:114092652 (GRCh38)
9:116854932 (GRCh37)
Canonical SPDI:: NC_000009.12:114092651:A:G
Gene:: KIF12 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.114092652A>G, NC_000009.11:g.116854932A>G, NG_051222.1:g.12433T>C, XM_024447406.2:c.*220T>C, XM_024447406.1:c.*220T>C

Select item 148718621518.

rs1487186215 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:114091288 (GRCh38)
9:116853568 (GRCh37)
Canonical SPDI:: NC_000009.12:114091287:T:A
Gene:: KIF12 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.114091288T>A, NC_000009.11:g.116853568T>A, NG_051222.1:g.13797A>T

Select item 148711477319.

rs1487114773 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:114096123 (GRCh38)
9:116858403 (GRCh37)
Canonical SPDI:: NC_000009.12:114096122:C:T
Gene:: KIF12 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000009.12:g.114096123C>T, NC_000009.11:g.116858403C>T, NG_051222.1:g.8962G>A, NM_138424.2:c.409G>A, NM_138424.1:c.409G>A, NM_001388308.1:c.823G>A, XM_005251683.6:c.823G>A, XM_005251683.5:c.823G>A, XM_005251683.4:c.823G>A, XM_005251683.3:c.823G>A, XM_005251683.2:c.823G>A, XM_005251683.1:c.823G>A, XM_006716947.3:c.721G>A, XM_006716947.2:c.721G>A, XM_006716947.1:c.721G>A, XM_024447406.2:c.409G>A, XM_024447406.1:c.409G>A, XM_047422709.1:c.409G>A, XR_007061240.1:n.871G>A, XM_047422710.1:c.409G>A, XR_007061239.1:n.871G>A, NP_612433.1:p.Val137Ile, NP_001375237.1:p.Val275Ile, XP_005251740.1:p.Val275Ile, XP_006717010.1:p.Val241Ile, XP_024303174.1:p.Val137Ile, XP_047278665.1:p.Val137Ile, XP_047278666.1:p.Val137Ile

Select item 148705198720.

rs1487051987 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 9:114097731 (GRCh38)
9:116860011 (GRCh37)
Canonical SPDI:: NC_000009.12:114097730:A:
Gene:: KIF12 (Varview), LOC124902251 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.114097731del, NC_000009.11:g.116860011del, NG_051222.1:g.7354del, NM_138424.2:c.-29del, NM_138424.1:c.-29del, NM_001388308.1:c.386del, XM_005251683.6:c.386del, XM_005251683.5:c.386del, XM_005251683.4:c.386del, XM_005251683.3:c.386del, XM_005251683.2:c.386del, XM_005251683.1:c.386del, XM_006716947.3:c.284del, XM_006716947.2:c.284del, XM_006716947.1:c.284del, XM_024447406.2:c.-29del, XM_024447406.1:c.-29del, XM_047422709.1:c.-29del, XR_007061240.1:n.434del, XM_047422710.1:c.-29del, XR_007061239.1:n.434del, XM_047422711.1:c.-117del, NP_001375237.1:p.Val129fs, XP_005251740.1:p.Val129fs, XP_006717010.1:p.Val95fs

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