SNP Links for Gene (Select 728276) - SNP

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Select item 14915378711.

rs1491537871 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 16:19287040 (GRCh38)
16:19298362 (GRCh37)
Canonical SPDI:: NC_000016.10:19287038:TGT:T
Gene:: CLEC19A (Varview), LOC105371114 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.224751/2666 (ALFA)
-=0.12035/220 (Korea1K)
-=0.154137/2568 (TOMMO)
-=0.175/7 (GENOME_DK)
-=0.201786/113 (NorthernSweden)
-=0.241413/32360 (GnomAD)
-=0.252596/1265 (1000Genomes)
HGVS:: NC_000016.10:g.19287040_19287041del, NC_000016.9:g.19298362_19298363del

Select item 14914752942.

rs1491475294 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 16:19301735 (GRCh38)
16:19313057 (GRCh37)
Canonical SPDI:: NC_000016.10:19301734:GG:
Gene:: CLEC19A (Varview), LOC105371114 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.08502/143 (Korea1K)
-=0.08633/1216 (TOMMO)
-=0.19091/105 (NorthernSweden)
-=0.24319/18790 (GnomAD)
HGVS:: NC_000016.10:g.19301735_19301736del, NC_000016.9:g.19313057_19313058del

Select item 14910852033.

rs1491085203 has merged into rs35007845 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:19304410 (GRCh38)
16:19315732 (GRCh37)
Canonical SPDI:: NC_000016.10:19304396:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:19304396:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:19304396:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:19304396:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:19304396:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:19304396:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:19304396:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:19304396:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:19304396:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:19304396:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:19304396:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CLEC19A (Varview), LOC105371114 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.4619/2313 (1000Genomes)
HGVS:: NC_000016.10:g.19304410_19304413del, NC_000016.10:g.19304411_19304413del, NC_000016.10:g.19304412_19304413del, NC_000016.10:g.19304413del, NC_000016.10:g.19304413dup, NC_000016.10:g.19304412_19304413dup, NC_000016.10:g.19304411_19304413dup, NC_000016.10:g.19304410_19304413dup, NC_000016.10:g.19304409_19304413dup, NC_000016.10:g.19304406_19304413dup, NC_000016.10:g.19304405_19304413dup, NC_000016.9:g.19315732_19315735del, NC_000016.9:g.19315733_19315735del, NC_000016.9:g.19315734_19315735del, NC_000016.9:g.19315735del, NC_000016.9:g.19315735dup, NC_000016.9:g.19315734_19315735dup, NC_000016.9:g.19315733_19315735dup, NC_000016.9:g.19315732_19315735dup, NC_000016.9:g.19315731_19315735dup, NC_000016.9:g.19315728_19315735dup, NC_000016.9:g.19315727_19315735dup

Select item 14910413244.

rs1491041324 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 16:19301734 (GRCh38)
16:19313056 (GRCh37)
Canonical SPDI:: NC_000016.10:19301733:TG:
Gene:: CLEC19A (Varview), LOC105371114 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00027/15 (GnomAD)
HGVS:: NC_000016.10:g.19301734_19301735del, NC_000016.9:g.19313056_19313057del

Select item 14906454455.

rs1490645445 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTTT [Show Flanks]
Chromosome:: 16:19311137 (GRCh38)
16:19322460 (GRCh37)
Canonical SPDI:: NC_000016.10:19311137:TTTT:TTTTCTTTT
Gene:: CLEC19A (Varview), LOC105371114 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTTTCTTTT=0./0 (ALFA)
HGVS:: NC_000016.10:g.19311138_19311141T[4]CTTTT[1], NC_000016.9:g.19322460_19322463T[4]CTTTT[1]

Select item 14906127756.

rs1490612775 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:19296656 (GRCh38)
16:19307978 (GRCh37)
Canonical SPDI:: NC_000016.10:19296655:A:G
Gene:: CLEC19A (Varview), LOC105371114 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,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_000016.10:g.19296656A>G, NC_000016.9:g.19307978A>G

Select item 14902849167.

rs1490284916 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 16:19297843 (GRCh38)
16:19309165 (GRCh37)
Canonical SPDI:: NC_000016.10:19297842:C:A,NC_000016.10:19297842:C:G
Gene:: CLEC19A (Varview), LOC105371114 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00026/4 (ALFA)
G=0.00112/5 (Estonian)
HGVS:: NC_000016.10:g.19297843C>A, NC_000016.10:g.19297843C>G, NC_000016.9:g.19309165C>A, NC_000016.9:g.19309165C>G

Select item 14899208478.

rs1489920847 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGA>- [Show Flanks]
Chromosome:: 16:19304846 (GRCh38)
16:19316168 (GRCh37)
Canonical SPDI:: NC_000016.10:19304841:AAGAAGA:AAGA
Gene:: CLEC19A (Varview), LOC105371114 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AAGA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.19304843AGA[1], NC_000016.9:g.19316165AGA[1]

Select item 14898674529.

rs1489867452 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:19289285 (GRCh38)
16:19300607 (GRCh37)
Canonical SPDI:: NC_000016.10:19289284:T:C
Gene:: CLEC19A (Varview), LOC105371114 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000312/2 (1000Genomes)
HGVS:: NC_000016.10:g.19289285T>C, NC_000016.9:g.19300607T>C

Select item 148984148010.

rs1489841480 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:19298183 (GRCh38)
16:19309505 (GRCh37)
Canonical SPDI:: NC_000016.10:19298182:G:A
Gene:: CLEC19A (Varview), LOC105371114 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00055/1 (Korea1K)
HGVS:: NC_000016.10:g.19298183G>A, NC_000016.9:g.19309505G>A

Select item 148979676411.

rs1489796764 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:19297220 (GRCh38)
16:19308542 (GRCh37)
Canonical SPDI:: NC_000016.10:19297219:T:C
Gene:: CLEC19A (Varview), LOC105371114 (Varview)
Functional Consequence:: genic_downstream_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_000016.10:g.19297220T>C, NC_000016.9:g.19308542T>C

Select item 148932457112.

rs1489324571 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:19286823 (GRCh38)
16:19298145 (GRCh37)
Canonical SPDI:: NC_000016.10:19286822:A:T
Gene:: CLEC19A (Varview), LOC105371114 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.19286823A>T, NC_000016.9:g.19298145A>T

Select item 148917352913.

rs1489173529 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:19298365 (GRCh38)
16:19309687 (GRCh37)
Canonical SPDI:: NC_000016.10:19298364:A:G
Gene:: CLEC19A (Varview), LOC105371114 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.19298365A>G, NC_000016.9:g.19309687A>G

Select item 148909350414.

rs1489093504 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 16:19300660 (GRCh38)
16:19311982 (GRCh37)
Canonical SPDI:: NC_000016.10:19300659:GGGG:GGG
Gene:: CLEC19A (Varview), LOC105371114 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
-=0.000117/31 (TOPMED)
-=0.000136/19 (GnomAD)
HGVS:: NC_000016.10:g.19300663del, NC_000016.9:g.19311985del

Select item 148908783715.

rs1489087837 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:19294547 (GRCh38)
16:19305869 (GRCh37)
Canonical SPDI:: NC_000016.10:19294546:G:C
Gene:: CLEC19A (Varview), LOC105371114 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000016.10:g.19294547G>C, NC_000016.9:g.19305869G>C

Select item 148889833216.

rs1488898332 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:19285847 (GRCh38)
16:19297169 (GRCh37)
Canonical SPDI:: NC_000016.10:19285846:T:G
Gene:: CLEC19A (Varview), LOC105371114 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.19285847T>G, NC_000016.9:g.19297169T>G, NM_001256720.2:c.-5T>G, NM_001256720.1:c.-5T>G, NM_207384.1:c.-5T>G, NR_024436.1:n.65T>G

Select item 148887612617.

rs1488876126 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:19299886 (GRCh38)
16:19311208 (GRCh37)
Canonical SPDI:: NC_000016.10:19299885:G:A
Gene:: CLEC19A (Varview), LOC105371114 (Varview)
Functional Consequence:: genic_downstream_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_000016.10:g.19299886G>A, NC_000016.9:g.19311208G>A

Select item 148886213518.

rs1488862135 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:19286420 (GRCh38)
16:19297742 (GRCh37)
Canonical SPDI:: NC_000016.10:19286419:G:A
Gene:: CLEC19A (Varview), LOC105371114 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000016.10:g.19286420G>A, NC_000016.9:g.19297742G>A

Select item 148880478319.

rs1488804783 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:19298740 (GRCh38)
16:19310062 (GRCh37)
Canonical SPDI:: NC_000016.10:19298739:T:A
Gene:: CLEC19A (Varview), LOC105371114 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000006/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.19298740T>A, NC_000016.9:g.19310062T>A, NM_001256720.2:c.156T>A, NM_001256720.1:c.156T>A, NM_207384.1:c.156T>A, NR_024436.1:n.225T>A, NP_001243649.1:p.Tyr52Ter

Select item 148873076020.

rs1488730760 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:19305929 (GRCh38)
16:19317251 (GRCh37)
Canonical SPDI:: NC_000016.10:19305928:C:T
Gene:: CLEC19A (Varview), LOC105371114 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.19305929C>T, NC_000016.9:g.19317251C>T

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