SNP Links for Gene (Select 3798) - SNP

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Select item 14915378291.

rs1491537829 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTCTGT,CTGT [Show Flanks]
Chromosome:: 12:57551906 (GRCh38)
12:57945690 (GRCh37)
Canonical SPDI:: NC_000012.12:57551906:T:TCTCTGT,NC_000012.12:57551906:T:TCTGT
Gene:: KIF5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCTGT=0./0 (ALFA)
TCTCTG=0.000008/1 (GnomAD)
HGVS:: NC_000012.12:g.57551907TC[2]TGT[1], NC_000012.12:g.57551907_57551908insCTGT, NC_000012.11:g.57945690TC[2]TGT[1], NC_000012.11:g.57945690_57945691insCTGT, NG_008155.1:g.6844TC[2]TGT[1], NG_008155.1:g.6844_6845insCTGT, NG_047120.1:g.425_426insCAGAGA, NG_047120.1:g.425_426insCAGA

Select item 14915338302.

rs1491533830 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 12:57574275 (GRCh38)
12:57968058 (GRCh37)
Canonical SPDI:: NC_000012.12:57574274:AT:
Gene:: KIF5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.57574275_57574276del, NC_000012.11:g.57968058_57968059del, NG_008155.1:g.29212_29213del

Select item 14912677003.

rs1491267700 has merged into rs34395550 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 12:57574288 (GRCh38)
12:57968071 (GRCh37)
Canonical SPDI:: NC_000012.12:57574275:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:57574275:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:57574275:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:57574275:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:57574275:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:57574275:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: KIF5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.3622/1343 (TWINSUK)
-=0.3672/1415 (ALSPAC)
-=0.3696/221 (NorthernSweden)
T=0.4497/2252 (1000Genomes)
HGVS:: NC_000012.12:g.57574288_57574290del, NC_000012.12:g.57574289_57574290del, NC_000012.12:g.57574290del, NC_000012.12:g.57574290dup, NC_000012.12:g.57574289_57574290dup, NC_000012.12:g.57574288_57574290dup, NC_000012.11:g.57968071_57968073del, NC_000012.11:g.57968072_57968073del, NC_000012.11:g.57968073del, NC_000012.11:g.57968073dup, NC_000012.11:g.57968072_57968073dup, NC_000012.11:g.57968071_57968073dup, NG_008155.1:g.29225_29227del, NG_008155.1:g.29226_29227del, NG_008155.1:g.29227del, NG_008155.1:g.29227dup, NG_008155.1:g.29226_29227dup, NG_008155.1:g.29225_29227dup

Select item 14910428114.

rs1491042811 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 12:57555925 (GRCh38)
12:57949708 (GRCh37)
Canonical SPDI:: NC_000012.12:57555923:AGA:A
Gene:: KIF5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.57555925_57555926del, NC_000012.11:g.57949708_57949709del, NG_008155.1:g.10862_10863del

Select item 14910214195.

rs1491021419 has merged into rs11430710 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 12:57574596 (GRCh38)
12:57968379 (GRCh37)
Canonical SPDI:: NC_000012.12:57574581:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:57574581:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:57574581:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:57574581:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:57574581:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:57574581:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:57574581:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: KIF5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.57574596_57574599del, NC_000012.12:g.57574597_57574599del, NC_000012.12:g.57574598_57574599del, NC_000012.12:g.57574599del, NC_000012.12:g.57574599dup, NC_000012.12:g.57574598_57574599dup, NC_000012.12:g.57574597_57574599dup, NC_000012.11:g.57968379_57968382del, NC_000012.11:g.57968380_57968382del, NC_000012.11:g.57968381_57968382del, NC_000012.11:g.57968382del, NC_000012.11:g.57968382dup, NC_000012.11:g.57968381_57968382dup, NC_000012.11:g.57968380_57968382dup, NG_008155.1:g.29533_29536del, NG_008155.1:g.29534_29536del, NG_008155.1:g.29535_29536del, NG_008155.1:g.29536del, NG_008155.1:g.29536dup, NG_008155.1:g.29535_29536dup, NG_008155.1:g.29534_29536dup

Select item 14909941916.

rs1490994191 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:57559843 (GRCh38)
12:57953626 (GRCh37)
Canonical SPDI:: NC_000012.12:57559842:G:T
Gene:: KIF5A (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)
HGVS:: NC_000012.12:g.57559843G>T, NC_000012.11:g.57953626G>T, NG_008155.1:g.14780G>T

Select item 14909673567.

rs1490967356 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:57572850 (GRCh38)
12:57966633 (GRCh37)
Canonical SPDI:: NC_000012.12:57572849:C:T
Gene:: KIF5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.57572850C>T, NC_000012.11:g.57966633C>T, NG_008155.1:g.27787C>T

Select item 14908863868.

rs1490886386 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:57560869 (GRCh38)
12:57954652 (GRCh37)
Canonical SPDI:: NC_000012.12:57560868:G:A
Gene:: KIF5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000042/11 (TOPMED)
A=0.00005/7 (GnomAD)
HGVS:: NC_000012.12:g.57560869G>A, NC_000012.11:g.57954652G>A, NG_008155.1:g.15806G>A

Select item 14908480839.

rs1490848083 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:57578806 (GRCh38)
12:57972589 (GRCh37)
Canonical SPDI:: NC_000012.12:57578805:G:A
Gene:: KIF5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.57578806G>A, NC_000012.11:g.57972589G>A, NG_008155.1:g.33743G>A

Select item 149069300510.

rs1490693005 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:57552957 (GRCh38)
12:57946740 (GRCh37)
Canonical SPDI:: NC_000012.12:57552956:C:G
Gene:: KIF5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.57552957C>G, NC_000012.11:g.57946740C>G, NG_008155.1:g.7894C>G

Select item 149055067411.

rs1490550674 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:57568262 (GRCh38)
12:57962045 (GRCh37)
Canonical SPDI:: NC_000012.12:57568261:G:A
Gene:: KIF5A (Varview)
Functional Consequence:: intron_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_000012.12:g.57568262G>A, NC_000012.11:g.57962045G>A, NG_008155.1:g.23199G>A

Select item 149050442812.

rs1490504428 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:57554201 (GRCh38)
12:57947984 (GRCh37)
Canonical SPDI:: NC_000012.12:57554200:A:C
Gene:: KIF5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.57554201A>C, NC_000012.11:g.57947984A>C, NG_008155.1:g.9138A>C

Select item 149040243013.

rs1490402430 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:57576223 (GRCh38)
12:57970006 (GRCh37)
Canonical SPDI:: NC_000012.12:57576222:G:A
Gene:: KIF5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.57576223G>A, NC_000012.11:g.57970006G>A, NG_008155.1:g.31160G>A

Select item 149022991714.

rs1490229917 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:57586731 (GRCh38)
12:57980514 (GRCh37)
Canonical SPDI:: NC_000012.12:57586730:G:T
Gene:: KIF5A (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000012.12:g.57586731G>T, NC_000012.11:g.57980514G>T, NG_008155.1:g.41668G>T

Select item 149017707115.

rs1490177071 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:57574140 (GRCh38)
12:57967923 (GRCh37)
Canonical SPDI:: NC_000012.12:57574139:G:A
Gene:: KIF5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.57574140G>A, NC_000012.11:g.57967923G>A, NG_008155.1:g.29077G>A

Select item 149015105616.

rs1490151056 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:57571128 (GRCh38)
12:57964911 (GRCh37)
Canonical SPDI:: NC_000012.12:57571127:G:A
Gene:: KIF5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.57571128G>A, NC_000012.11:g.57964911G>A, NG_008155.1:g.26065G>A

Select item 149012643317.

rs1490126433 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:57571446 (GRCh38)
12:57965229 (GRCh37)
Canonical SPDI:: NC_000012.12:57571445:G:A
Gene:: KIF5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000012.12:g.57571446G>A, NC_000012.11:g.57965229G>A, NG_008155.1:g.26383G>A

Select item 149001688218.

rs1490016882 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:57558932 (GRCh38)
12:57952715 (GRCh37)
Canonical SPDI:: NC_000012.12:57558931:A:T
Gene:: KIF5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.57558932A>T, NC_000012.11:g.57952715A>T, NG_008155.1:g.13869A>T

Select item 148992215719.

rs1489922157 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTG>- [Show Flanks]
Chromosome:: 12:57576193 (GRCh38)
12:57969976 (GRCh37)
Canonical SPDI:: NC_000012.12:57576189:GTGGTG:GTG
Gene:: KIF5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTGGTG=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.57576190GTG[1], NC_000012.11:g.57969973GTG[1], NG_008155.1:g.31127GTG[1]

Select item 148990364120.

rs1489903641 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATTT>- [Show Flanks]
Chromosome:: 12:57559901 (GRCh38)
12:57953684 (GRCh37)
Canonical SPDI:: NC_000012.12:57559889:TTTATTTATTTATTT:TTTATTTATTT
Gene:: KIF5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTATTTATTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.57559893ATTT[2], NC_000012.11:g.57953676ATTT[2], NG_008155.1:g.14830ATTT[2]

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