SNP Links for Gene (Select 3799) - SNP

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Select item 14915643751.

rs1491564375 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:32024078 (GRCh38)
10:32313006 (GRCh37)
Canonical SPDI:: NC_000010.11:32024076:ACA:A
Gene:: KIF5B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.001012/12 (ALFA)
-=0.00053/72 (GnomAD)
HGVS:: NC_000010.11:g.32024078_32024079del, NC_000010.10:g.32313006_32313007del

Select item 14915052362.

rs1491505236 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 10:32054884 (GRCh38)
10:32343812 (GRCh37)
Canonical SPDI:: NC_000010.11:32054882:TAT:T
Gene:: KIF5B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.32054884_32054885del, NC_000010.10:g.32343812_32343813del

Select item 14914875853.

rs1491487585 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 10:32009213 (GRCh38)
10:32298141 (GRCh37)
Canonical SPDI:: NC_000010.11:32009209:GAGAG:GAG
Gene:: KIF5B (Varview), LOC107984219 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GAG=0.000071/1 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.32009211AG[1], NC_000010.10:g.32298139AG[1], NM_004521.3:c.*2324TC[1], NM_004521.2:c.*2324TC[1], XM_047425203.1:c.*2324TC[1]

Select item 14914794804.

rs1491479480 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 10:32024051 (GRCh38)
10:32312979 (GRCh37)
Canonical SPDI:: NC_000010.11:32024050:TA:
Gene:: KIF5B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.32024051_32024052del, NC_000010.10:g.32312979_32312980del

Select item 14914325595.

rs1491432559 has merged into rs150457811 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGAGAGAGA>-,GA,GAGA,GAGAGA,GAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGA [Show Flanks]
Chromosome:: 10:32014561 (GRCh38)
10:32303489 (GRCh37)
Canonical SPDI:: NC_000010.11:32014549:AGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGA,NC_000010.11:32014549:AGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGA,NC_000010.11:32014549:AGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000010.11:32014549:AGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA,NC_000010.11:32014549:AGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA,NC_000010.11:32014549:AGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:32014549:AGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:32014549:AGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGA
Gene:: KIF5B (Varview), LOC107984219 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAGA=0./0 (ALFA)
-=0.023/81 (1000Genomes)
HGVS:: NC_000010.11:g.32014551GA[5], NC_000010.11:g.32014551GA[6], NC_000010.11:g.32014551GA[7], NC_000010.11:g.32014551GA[8], NC_000010.11:g.32014551GA[9], NC_000010.11:g.32014551GA[11], NC_000010.11:g.32014551GA[12], NC_000010.11:g.32014551GA[13], NC_000010.10:g.32303479GA[5], NC_000010.10:g.32303479GA[6], NC_000010.10:g.32303479GA[7], NC_000010.10:g.32303479GA[8], NC_000010.10:g.32303479GA[9], NC_000010.10:g.32303479GA[11], NC_000010.10:g.32303479GA[12], NC_000010.10:g.32303479GA[13]

Select item 14913747746.

rs1491374774 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 10:32014548 (GRCh38)
10:32303477 (GRCh37)
Canonical SPDI:: NC_000010.11:32014548::G
Gene:: KIF5B (Varview), LOC107984219 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.000035/1 (TOMMO)
G=0.000078/10 (GnomAD)
HGVS:: NC_000010.11:g.32014548_32014549insG, NC_000010.10:g.32303476_32303477insG

Select item 14913269187.

rs1491326918 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 10:32009210 (GRCh38)
10:32298139 (GRCh37)
Canonical SPDI:: NC_000010.11:32009210:A:AA
Gene:: KIF5B (Varview), LOC107984219 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.32009211dup, NC_000010.10:g.32298139dup, NM_004521.3:c.*2326dup, NM_004521.2:c.*2326dup, XM_047425203.1:c.*2326dup

Select item 14912875498.

rs1491287549 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 10:32014549 (GRCh38)
10:32303477 (GRCh37)
Canonical SPDI:: NC_000010.11:32014547:AAA:A
Gene:: KIF5B (Varview), LOC107984219 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000008/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.32014549_32014550del, NC_000010.10:g.32303477_32303478del

Select item 14912816859.

rs1491281685 [Homo sapiens]

Variant type:: INS
Alleles:: ->CTA [Show Flanks]
Chromosome:: 10:32054883 (GRCh38)
10:32343812 (GRCh37)
Canonical SPDI:: NC_000010.11:32054883::CTA
Gene:: KIF5B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CTA=0./0 (ALFA)
CTA=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.32054883_32054884insCTA, NC_000010.10:g.32343811_32343812insCTA

Select item 149118000010.

rs1491180000 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 10:32049930 (GRCh38)
10:32338858 (GRCh37)
Canonical SPDI:: NC_000010.11:32049928:TAT:T
Gene:: KIF5B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000651/12 (ALFA)
-=0.000212/3 (TOMMO)
-=0.000287/76 (TOPMED)
-=0.000304/40 (GnomAD)
-=0.00159/7 (Estonian)
HGVS:: NC_000010.11:g.32049930_32049931del, NC_000010.10:g.32338858_32338859del

Select item 149098911511.

rs1490989115 [Homo sapiens]

Variant type:: DEL
Alleles:: CGT>- [Show Flanks]
Chromosome:: 10:32024042 (GRCh38)
10:32312970 (GRCh37)
Canonical SPDI:: NC_000010.11:32024041:CGT:
Gene:: KIF5B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000018/2 (GnomAD)
HGVS:: NC_000010.11:g.32024042_32024044del, NC_000010.10:g.32312970_32312972del

Select item 149097846112.

rs1490978461 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 10:32047215 (GRCh38)
10:32336143 (GRCh37)
Canonical SPDI:: NC_000010.11:32047214:CT:
Gene:: KIF5B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.32047215_32047216del, NC_000010.10:g.32336143_32336144del

Select item 149094251313.

rs1490942513 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:32057596 (GRCh38)
10:32346524 (GRCh37)
Canonical SPDI:: NC_000010.11:32057595:G:T
Gene:: KIF5B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.32057596G>T, NC_000010.10:g.32346524G>T

Select item 149088517514.

rs1490885175 has merged into rs201207711 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:32008799 (GRCh38)
10:32297727 (GRCh37)
Canonical SPDI:: NC_000010.11:32008787:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:32008787:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:32008787:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:32008787:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:32008787:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:32008787:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:32008787:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:32008787:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:32008787:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:32008787:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:32008787:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:32008787:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:32008787:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:32008787:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:32008787:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:32008787:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:32008787:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:32008787:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:32008787:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:32008787:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:32008787:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:32008787:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:32008787:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:32008787:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:32008787:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:32008787:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:32008787:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:32008787:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:32008787:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:32008787:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:32008787:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:32008787:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:32008787:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:32008787:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:32008787:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:32008787:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:32008787:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:32008787:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: KIF5B (Varview), LOC107984219 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAA=0.0331/166 (1000Genomes)
-=0.475/19 (GENOME_DK)
HGVS:: NC_000010.11:g.32008799_32008812del, NC_000010.11:g.32008800_32008812del, NC_000010.11:g.32008801_32008812del, NC_000010.11:g.32008802_32008812del, NC_000010.11:g.32008803_32008812del, NC_000010.11:g.32008804_32008812del, NC_000010.11:g.32008805_32008812del, NC_000010.11:g.32008806_32008812del, NC_000010.11:g.32008807_32008812del, NC_000010.11:g.32008808_32008812del, NC_000010.11:g.32008809_32008812del, NC_000010.11:g.32008810_32008812del, NC_000010.11:g.32008811_32008812del, NC_000010.11:g.32008812del, NC_000010.11:g.32008812dup, NC_000010.11:g.32008811_32008812dup, NC_000010.11:g.32008810_32008812dup, NC_000010.11:g.32008809_32008812dup, NC_000010.11:g.32008808_32008812dup, NC_000010.11:g.32008807_32008812dup, NC_000010.11:g.32008806_32008812dup, NC_000010.11:g.32008805_32008812dup, NC_000010.11:g.32008804_32008812dup, NC_000010.11:g.32008803_32008812dup, NC_000010.11:g.32008802_32008812dup, NC_000010.11:g.32008801_32008812dup, NC_000010.11:g.32008800_32008812dup, NC_000010.11:g.32008799_32008812dup, NC_000010.11:g.32008798_32008812dup, NC_000010.11:g.32008797_32008812dup, NC_000010.11:g.32008796_32008812dup, NC_000010.11:g.32008793_32008812dup, NC_000010.11:g.32008789_32008812dup, NC_000010.11:g.32008812_32008813insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.32008812_32008813insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.32008812_32008813insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.32008812_32008813insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.32008812_32008813insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.32297727_32297740del, NC_000010.10:g.32297728_32297740del, NC_000010.10:g.32297729_32297740del, NC_000010.10:g.32297730_32297740del, NC_000010.10:g.32297731_32297740del, NC_000010.10:g.32297732_32297740del, NC_000010.10:g.32297733_32297740del, NC_000010.10:g.32297734_32297740del, NC_000010.10:g.32297735_32297740del, NC_000010.10:g.32297736_32297740del, NC_000010.10:g.32297737_32297740del, NC_000010.10:g.32297738_32297740del, NC_000010.10:g.32297739_32297740del, NC_000010.10:g.32297740del, NC_000010.10:g.32297740dup, NC_000010.10:g.32297739_32297740dup, NC_000010.10:g.32297738_32297740dup, NC_000010.10:g.32297737_32297740dup, NC_000010.10:g.32297736_32297740dup, NC_000010.10:g.32297735_32297740dup, NC_000010.10:g.32297734_32297740dup, NC_000010.10:g.32297733_32297740dup, NC_000010.10:g.32297732_32297740dup, NC_000010.10:g.32297731_32297740dup, NC_000010.10:g.32297730_32297740dup, NC_000010.10:g.32297729_32297740dup, NC_000010.10:g.32297728_32297740dup, NC_000010.10:g.32297727_32297740dup, NC_000010.10:g.32297726_32297740dup, NC_000010.10:g.32297725_32297740dup, NC_000010.10:g.32297724_32297740dup, NC_000010.10:g.32297721_32297740dup, NC_000010.10:g.32297717_32297740dup, NC_000010.10:g.32297740_32297741insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.32297740_32297741insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.32297740_32297741insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.32297740_32297741insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.32297740_32297741insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149083315615.

rs1490833156 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 10:32009650 (GRCh38)
10:32298579 (GRCh37)
Canonical SPDI:: NC_000010.11:32009650:AAAAAA:AAAAAAA
Gene:: KIF5B (Varview), LOC107984219 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.32009656dup, NC_000010.10:g.32298584dup, NM_004521.3:c.*1886dup, NM_004521.2:c.*1886dup, XM_047425203.1:c.*1886dup

Select item 149080784016.

rs1490807840 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:32055782 (GRCh38)
10:32344710 (GRCh37)
Canonical SPDI:: NC_000010.11:32055781:C:G
Gene:: KIF5B (Varview)
Functional Consequence:: intron_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_000010.11:g.32055782C>G, NC_000010.10:g.32344710C>G

Select item 149077293217.

rs1490772932 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:32055117 (GRCh38)
10:32344045 (GRCh37)
Canonical SPDI:: NC_000010.11:32055116:G:A
Gene:: KIF5B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.32055117G>A, NC_000010.10:g.32344045G>A

Select item 149066004618.

rs1490660046 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:32056080 (GRCh38)
10:32345008 (GRCh37)
Canonical SPDI:: NC_000010.11:32056079:G:C
Gene:: KIF5B (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000023/6 (TOPMED)
HGVS:: NC_000010.11:g.32056080G>C, NC_000010.10:g.32345008G>C, NM_004521.3:c.-107C>G, NM_004521.2:c.-107C>G, XM_047425203.1:c.-603C>G, XM_047425202.1:c.-107C>G

Select item 149062479719.

rs1490624797 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:32024639 (GRCh38)
10:32313567 (GRCh37)
Canonical SPDI:: NC_000010.11:32024638:C:A
Gene:: KIF5B (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_000010.11:g.32024639C>A, NC_000010.10:g.32313567C>A

Select item 149040273820.

rs1490402738 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAAGGAGGAGC [Show Flanks]
Chromosome:: 10:32040022 (GRCh38)
10:32328951 (GRCh37)
Canonical SPDI:: NC_000010.11:32040022:GAAGGAGGAGC:GAAGGAGGAGCGAAGGAGGAGC
Gene:: KIF5B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAAGGAGGAGCGAAGGAGGAGC=0./0 (ALFA)
GAAGGAGGAGC=0.000004/1 (TOPMED)
GAAGGAGGAGC=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.32040023_32040033dup, NC_000010.10:g.32328951_32328961dup

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