SNP Links for Gene (Select 165530) - SNP

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Select item 14914658661.

rs1491465866 has merged into rs1180721472 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:70824637 (GRCh38)
2:71051768 (GRCh37)
Canonical SPDI:: NC_000002.12:70824622:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:70824622:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:70824622:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:70824622:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:70824622:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70824622:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70824622:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70824622:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70824622:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70824622:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70824622:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70824622:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70824622:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70824622:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70824622:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70824622:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70824622:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70824622:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70824622:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70824622:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70824622:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70824622:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CD207 (Varview), CLEC4F (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,3_prime_UTR_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.70824637_70824646del, NC_000002.12:g.70824639_70824646del, NC_000002.12:g.70824641_70824646del, NC_000002.12:g.70824643_70824646del, NC_000002.12:g.70824644_70824646del, NC_000002.12:g.70824645_70824646del, NC_000002.12:g.70824646del, NC_000002.12:g.70824646dup, NC_000002.12:g.70824645_70824646dup, NC_000002.12:g.70824644_70824646dup, NC_000002.12:g.70824643_70824646dup, NC_000002.12:g.70824642_70824646dup, NC_000002.12:g.70824641_70824646dup, NC_000002.12:g.70824640_70824646dup, NC_000002.12:g.70824637_70824646dup, NC_000002.12:g.70824636_70824646dup, NC_000002.12:g.70824635_70824646dup, NC_000002.12:g.70824634_70824646dup, NC_000002.12:g.70824632_70824646dup, NC_000002.12:g.70824628_70824646dup, NC_000002.12:g.70824624_70824646dup, NC_000002.12:g.70824646_70824647insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_004504299.1:g.390918_390927del, NW_004504299.1:g.390920_390927del, NW_004504299.1:g.390922_390927del, NW_004504299.1:g.390924_390927del, NW_004504299.1:g.390925_390927del, NW_004504299.1:g.390926_390927del, NW_004504299.1:g.390927del, NW_004504299.1:g.390927dup, NW_004504299.1:g.390926_390927dup, NW_004504299.1:g.390925_390927dup, NW_004504299.1:g.390924_390927dup, NW_004504299.1:g.390923_390927dup, NW_004504299.1:g.390922_390927dup, NW_004504299.1:g.390921_390927dup, NW_004504299.1:g.390918_390927dup, NW_004504299.1:g.390917_390927dup, NW_004504299.1:g.390916_390927dup, NW_004504299.1:g.390915_390927dup, NW_004504299.1:g.390913_390927dup, NW_004504299.1:g.390909_390927dup, NW_004504299.1:g.390905_390927dup, NW_004504299.1:g.390927_390928insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.71051768_71051777del, NC_000002.11:g.71051770_71051777del, NC_000002.11:g.71051772_71051777del, NC_000002.11:g.71051774_71051777del, NC_000002.11:g.71051775_71051777del, NC_000002.11:g.71051776_71051777del, NC_000002.11:g.71051777del, NC_000002.11:g.71051777dup, NC_000002.11:g.71051776_71051777dup, NC_000002.11:g.71051775_71051777dup, NC_000002.11:g.71051774_71051777dup, NC_000002.11:g.71051773_71051777dup, NC_000002.11:g.71051772_71051777dup, NC_000002.11:g.71051771_71051777dup, NC_000002.11:g.71051768_71051777dup, NC_000002.11:g.71051767_71051777dup, NC_000002.11:g.71051766_71051777dup, NC_000002.11:g.71051765_71051777dup, NC_000002.11:g.71051763_71051777dup, NC_000002.11:g.71051759_71051777dup, NC_000002.11:g.71051755_71051777dup, NC_000002.11:g.71051777_71051778insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XM_011532876.3:c.*665_*674del, XM_011532876.3:c.*667_*674del, XM_011532876.3:c.*669_*674del, XM_011532876.3:c.*671_*674del, XM_011532876.3:c.*672_*674del, XM_011532876.3:c.*673_*674del, XM_011532876.3:c.*674del, XM_011532876.3:c.*674dup, XM_011532876.3:c.*673_*674dup, XM_011532876.3:c.*672_*674dup, XM_011532876.3:c.*671_*674dup, XM_011532876.3:c.*670_*674dup, XM_011532876.3:c.*669_*674dup, XM_011532876.3:c.*668_*674dup, XM_011532876.3:c.*665_*674dup, XM_011532876.3:c.*664_*674dup, XM_011532876.3:c.*663_*674dup, XM_011532876.3:c.*662_*674dup, XM_011532876.3:c.*660_*674dup, XM_011532876.3:c.*656_*674dup, XM_011532876.3:c.*652_*674dup, XM_011532876.3:c.*674_*675insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14912452812.

rs1491245281 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:70824622 (GRCh38)
2:71051753 (GRCh37)
Canonical SPDI:: NC_000002.12:70824621:CA:
Gene:: CD207 (Varview), CLEC4F (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0016/19 (ALFA)
-=0.00328/118 (GnomAD)
HGVS:: NC_000002.12:g.70824622_70824623del, NW_004504299.1:g.390903_390904del, NC_000002.11:g.71051753_71051754del, XM_011532876.3:c.*674_*675del

Select item 14912067963.

rs1491206796 has merged into rs10538705 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 2:70823135 (GRCh38)
2:71050266 (GRCh37)
Canonical SPDI:: NC_000002.12:70823121:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000002.12:70823121:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000002.12:70823121:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000002.12:70823121:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000002.12:70823121:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:70823121:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:70823121:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: CLEC4F (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGT=0./0 (ALFA)
TGTGTG=0.000064/17 (TOPMED)
-=0.001198/6 (1000Genomes)
HGVS:: NC_000002.12:g.70823123GT[6], NC_000002.12:g.70823123GT[7], NC_000002.12:g.70823123GT[8], NC_000002.12:g.70823123GT[9], NC_000002.12:g.70823123GT[11], NC_000002.12:g.70823123GT[12], NC_000002.12:g.70823123GT[13], NW_004504299.1:g.389404GT[6], NW_004504299.1:g.389404GT[7], NW_004504299.1:g.389404GT[8], NW_004504299.1:g.389404GT[9], NW_004504299.1:g.389404GT[11], NW_004504299.1:g.389404GT[12], NW_004504299.1:g.389404GT[13], NC_000002.11:g.71050254GT[6], NC_000002.11:g.71050254GT[7], NC_000002.11:g.71050254GT[8], NC_000002.11:g.71050254GT[9], NC_000002.11:g.71050254GT[11], NC_000002.11:g.71050254GT[12], NC_000002.11:g.71050254GT[13]

Select item 14910078114.

rs1491007811 has merged into rs60330725 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:70814851 (GRCh38)
2:71041983 (GRCh37)
Canonical SPDI:: NC_000002.12:70814838:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:70814838:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:70814838:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:70814838:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:70814838:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:70814838:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:70814838:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70814838:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70814838:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70814838:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CLEC4F (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.3854/1930 (1000Genomes)
-=0.45/18 (GENOME_DK)
HGVS:: NC_000002.12:g.70814851_70814853del, NC_000002.12:g.70814852_70814853del, NC_000002.12:g.70814853del, NC_000002.12:g.70814853dup, NC_000002.12:g.70814852_70814853dup, NC_000002.12:g.70814851_70814853dup, NC_000002.12:g.70814845_70814853dup, NC_000002.12:g.70814844_70814853dup, NC_000002.12:g.70814843_70814853dup, NC_000002.12:g.70814842_70814853dup, NW_004504299.1:g.381133_381135del, NW_004504299.1:g.381134_381135del, NW_004504299.1:g.381135del, NW_004504299.1:g.381135dup, NW_004504299.1:g.381134_381135dup, NW_004504299.1:g.381133_381135dup, NW_004504299.1:g.381127_381135dup, NW_004504299.1:g.381126_381135dup, NW_004504299.1:g.381125_381135dup, NW_004504299.1:g.381124_381135dup, NC_000002.11:g.71041983_71041985del, NC_000002.11:g.71041984_71041985del, NC_000002.11:g.71041985del, NC_000002.11:g.71041985dup, NC_000002.11:g.71041984_71041985dup, NC_000002.11:g.71041983_71041985dup, NC_000002.11:g.71041977_71041985dup, NC_000002.11:g.71041976_71041985dup, NC_000002.11:g.71041975_71041985dup, NC_000002.11:g.71041974_71041985dup

Select item 14909657185.

rs1490965718 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:70814181 (GRCh38)
2:71041313 (GRCh37)
Canonical SPDI:: NC_000002.12:70814180:A:G
Gene:: CLEC4F (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.70814181A>G, NW_004504299.1:g.380463A>G, NC_000002.11:g.71041313A>G

Select item 14905849586.

rs1490584958 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:70808161 (GRCh38)
2:71035293 (GRCh37)
Canonical SPDI:: NC_000002.12:70808160:A:G
Gene:: CLEC4F (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.70808161A>G, NW_004504299.1:g.374443A>G, NC_000002.11:g.71035293A>G

Select item 14904736327.

rs1490473632 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:70813748 (GRCh38)
2:71040880 (GRCh37)
Canonical SPDI:: NC_000002.12:70813747:G:A
Gene:: CLEC4F (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000142/2 (TOMMO)
A=0.001369/4 (KOREAN)
HGVS:: NC_000002.12:g.70813748G>A, NW_004504299.1:g.380030G>A, NC_000002.11:g.71040880G>A

Select item 14904413018.

rs1490441301 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:70814704 (GRCh38)
2:71041836 (GRCh37)
Canonical SPDI:: NC_000002.12:70814703:C:T
Gene:: CLEC4F (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.70814704C>T, NW_004504299.1:g.380986C>T, NC_000002.11:g.71041836C>T

Select item 14903314799.

rs1490331479 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:70822155 (GRCh38)
2:71049286 (GRCh37)
Canonical SPDI:: NC_000002.12:70822154:T:C
Gene:: CLEC4F (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.70822155T>C, NW_004504299.1:g.388436T>C, NC_000002.11:g.71049286T>C

Select item 149006133810.

rs1490061338 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:70821159 (GRCh38)
2:71048291 (GRCh37)
Canonical SPDI:: NC_000002.12:70821158:T:A
Gene:: CLEC4F (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,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_000002.12:g.70821159T>A, NW_004504299.1:g.387441T>A, NC_000002.11:g.71048291T>A

Select item 148984059711.

rs1489840597 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:70821686 (GRCh38)
2:71048817 (GRCh37)
Canonical SPDI:: NC_000002.12:70821685:T:C
Gene:: CLEC4F (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_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_000002.12:g.70821686T>C, NC_000002.11:g.71048817T>C, NW_004504299.1:g.387967T>C

Select item 148952608512.

rs1489526085 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:70823673 (GRCh38)
2:71050804 (GRCh37)
Canonical SPDI:: NC_000002.12:70823672:G:A,NC_000002.12:70823672:G:T
Gene:: CD207 (Varview), CLEC4F (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.70823673G>A, NC_000002.12:g.70823673G>T, NW_004504299.1:g.389954G>A, NW_004504299.1:g.389954G>T, NC_000002.11:g.71050804G>A, NC_000002.11:g.71050804G>T, XM_011532637.2:c.-490C>T, XM_011532637.2:c.-490C>A, XM_011532637.1:c.-490C>T, XM_011532637.1:c.-490C>A

Select item 148909036913.

rs1489090369 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:70809604 (GRCh38)
2:71036736 (GRCh37)
Canonical SPDI:: NC_000002.12:70809603:C:A,NC_000002.12:70809603:C:T
Gene:: CLEC4F (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/1 (GnomAD)
HGVS:: NC_000002.12:g.70809604C>A, NC_000002.12:g.70809604C>T, NW_004504299.1:g.375886C>A, NW_004504299.1:g.375886C>T, NC_000002.11:g.71036736C>A, NC_000002.11:g.71036736C>T, XM_011532641.3:c.*228G>T, XM_011532641.3:c.*228G>A

Select item 148904949014.

rs1489049490 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:70819669 (GRCh38)
2:71046801 (GRCh37)
Canonical SPDI:: NC_000002.12:70819668:T:A
Gene:: CLEC4F (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.70819669T>A, NW_004504299.1:g.385951T>A, NC_000002.11:g.71046801T>A, XM_011532641.3:c.284A>T, XM_011532641.2:c.284A>T, XM_011532641.1:c.284A>T, XM_011532635.3:c.284A>T, XM_011532635.2:c.284A>T, XM_011532635.1:c.284A>T, XM_011532640.3:c.284A>T, XM_011532640.2:c.284A>T, XM_011532640.1:c.284A>T, XM_011532638.3:c.284A>T, XM_011532638.2:c.284A>T, XM_011532638.1:c.284A>T, XM_011532639.3:c.284A>T, XM_011532639.2:c.284A>T, XM_011532639.1:c.284A>T, XM_011532637.2:c.284A>T, XM_011532637.1:c.284A>T, XM_017003519.1:c.284A>T, XP_011530943.1:p.Asp95Val, XP_011530937.1:p.Asp95Val, XP_011530942.1:p.Asp95Val, XP_011530940.1:p.Asp95Val, XP_011530941.1:p.Asp95Val, XP_011530939.1:p.Asp95Val, XP_016859008.1:p.Asp95Val

Select item 148898781915.

rs1488987819 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:70810526 (GRCh38)
2:71037658 (GRCh37)
Canonical SPDI:: NC_000002.12:70810525:G:A
Gene:: CLEC4F (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.70810526G>A, NW_004504299.1:g.376808G>A, NC_000002.11:g.71037658G>A

Select item 148880266416.

rs1488802664 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:70826279 (GRCh38)
2:71053410 (GRCh37)
Canonical SPDI:: NC_000002.12:70826278:G:A
Gene:: CD207 (Varview), CLEC4F (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_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_000002.12:g.70826279G>A, NW_004504299.1:g.392560G>A, NC_000002.11:g.71053410G>A

Select item 148879500017.

rs1488795000 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:70815975 (GRCh38)
2:71043107 (GRCh37)
Canonical SPDI:: NC_000002.12:70815974:A:G
Gene:: CLEC4F (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.70815975A>G, NW_004504299.1:g.382257A>G, NC_000002.11:g.71043107A>G

Select item 148876473318.

rs1488764733 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:70817050 (GRCh38)
2:71044182 (GRCh37)
Canonical SPDI:: NC_000002.12:70817049:T:C
Gene:: CLEC4F (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.70817050T>C, NW_004504299.1:g.383332T>C, NC_000002.11:g.71044182T>C, XM_011532641.3:c.661A>G, XM_011532641.2:c.661A>G, XM_011532641.1:c.661A>G, XM_011532635.3:c.661A>G, XM_011532635.2:c.661A>G, XM_011532635.1:c.661A>G, XM_011532640.3:c.661A>G, XM_011532640.2:c.661A>G, XM_011532640.1:c.661A>G, XM_011532638.3:c.661A>G, XM_011532638.2:c.661A>G, XM_011532638.1:c.661A>G, XM_011532639.3:c.661A>G, XM_011532639.2:c.661A>G, XM_011532639.1:c.661A>G, NM_173535.3:c.331A>G, NM_173535.2:c.331A>G, XM_011532642.3:c.241A>G, XM_011532642.2:c.241A>G, XM_011532642.1:c.241A>G, XM_011532637.2:c.661A>G, XM_011532637.1:c.661A>G, NM_001258027.2:c.331A>G, NM_001258027.1:c.331A>G, NM_001321308.2:c.331A>G, NM_001321308.1:c.331A>G, XM_017003519.1:c.661A>G, XM_011532643.1:c.148A>G, XP_011530943.1:p.Met221Val, XP_011530937.1:p.Met221Val, XP_011530942.1:p.Met221Val, XP_011530940.1:p.Met221Val, XP_011530941.1:p.Met221Val, NP_775806.2:p.Met111Val, XP_011530944.1:p.Met81Val, XP_011530939.1:p.Met221Val, NP_001244956.1:p.Met111Val, NP_001308237.1:p.Met111Val, XP_016859008.1:p.Met221Val, XP_011530945.1:p.Met50Val

Select item 148869131419.

rs1488691314 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 2:70827206 (GRCh38)
2:71054337 (GRCh37)
Canonical SPDI:: NC_000002.12:70827205:C:A,NC_000002.12:70827205:C:G
Gene:: CD207 (Varview), CLEC4F (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
G=0.000546/1 (Korea1K)
HGVS:: NC_000002.12:g.70827206C>A, NC_000002.12:g.70827206C>G, NW_004504299.1:g.393487C>A, NW_004504299.1:g.393487C>G, NC_000002.11:g.71054337C>A, NC_000002.11:g.71054337C>G

Select item 148863156020.

rs1488631560 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:70815720 (GRCh38)
2:71042852 (GRCh37)
Canonical SPDI:: NC_000002.12:70815719:C:T
Gene:: CLEC4F (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.70815720C>T, NW_004504299.1:g.382002C>T, NC_000002.11:g.71042852C>T

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