SNP Links for Gene (Select 10478) - SNP

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Select item 14915581071.

rs1491558107 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 22:40821015 (GRCh38)
22:41217019 (GRCh37)
Canonical SPDI:: NC_000022.11:40821014:CT:
Gene:: SLC25A17 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000108/15 (GnomAD)
HGVS:: NC_000022.11:g.40821015_40821016del, NC_000022.10:g.41217019_41217020del

Select item 14915455522.

rs1491545552 has merged into rs138332 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 22:40821026 (GRCh38)
22:41217030 (GRCh37)
Canonical SPDI:: NC_000022.11:40821015:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000022.11:40821015:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000022.11:40821015:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:40821015:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:40821015:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:40821015:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: SLC25A17 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.175/7 (GENOME_DK)
HGVS:: NC_000022.11:g.40821026_40821029del, NC_000022.11:g.40821027_40821029del, NC_000022.11:g.40821028_40821029del, NC_000022.11:g.40821029del, NC_000022.11:g.40821029dup, NC_000022.11:g.40821028_40821029dup, NC_000022.10:g.41217030_41217033del, NC_000022.10:g.41217031_41217033del, NC_000022.10:g.41217032_41217033del, NC_000022.10:g.41217033del, NC_000022.10:g.41217033dup, NC_000022.10:g.41217032_41217033dup

Select item 14915199613.

rs1491519961 has merged into rs138329 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGGGGGGGG>-,GGG,GGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGGG,GGGGGGGGGGGG,GGGGGGGGGGGGG,GGGGGGGGGGGGGG,GGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGG [Show Flanks]
Chromosome:: 22:40819416 (GRCh38)
22:41215420 (GRCh37)
Canonical SPDI:: NC_000022.11:40819412:GGGGGGGGGGGGG:GGG,NC_000022.11:40819412:GGGGGGGGGGGGG:GGGGGG,NC_000022.11:40819412:GGGGGGGGGGGGG:GGGGGGG,NC_000022.11:40819412:GGGGGGGGGGGGG:GGGGGGGGG,NC_000022.11:40819412:GGGGGGGGGGGGG:GGGGGGGGGG,NC_000022.11:40819412:GGGGGGGGGGGGG:GGGGGGGGGGG,NC_000022.11:40819412:GGGGGGGGGGGGG:GGGGGGGGGGGG,NC_000022.11:40819412:GGGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000022.11:40819412:GGGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000022.11:40819412:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000022.11:40819412:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000022.11:40819412:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGG,NC_000022.11:40819412:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGG,NC_000022.11:40819412:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGG,NC_000022.11:40819412:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGG,NC_000022.11:40819412:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGG
Gene:: SLC25A17 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
GGGGGGG=0.0074/37 (1000Genomes)
HGVS:: NC_000022.11:g.40819416_40819425del, NC_000022.11:g.40819419_40819425del, NC_000022.11:g.40819420_40819425del, NC_000022.11:g.40819422_40819425del, NC_000022.11:g.40819423_40819425del, NC_000022.11:g.40819424_40819425del, NC_000022.11:g.40819425del, NC_000022.11:g.40819425dup, NC_000022.11:g.40819424_40819425dup, NC_000022.11:g.40819423_40819425dup, NC_000022.11:g.40819422_40819425dup, NC_000022.11:g.40819421_40819425dup, NC_000022.11:g.40819420_40819425dup, NC_000022.11:g.40819419_40819425dup, NC_000022.11:g.40819418_40819425dup, NC_000022.11:g.40819417_40819425dup, NC_000022.10:g.41215420_41215429del, NC_000022.10:g.41215423_41215429del, NC_000022.10:g.41215424_41215429del, NC_000022.10:g.41215426_41215429del, NC_000022.10:g.41215427_41215429del, NC_000022.10:g.41215428_41215429del, NC_000022.10:g.41215429del, NC_000022.10:g.41215429dup, NC_000022.10:g.41215428_41215429dup, NC_000022.10:g.41215427_41215429dup, NC_000022.10:g.41215426_41215429dup, NC_000022.10:g.41215425_41215429dup, NC_000022.10:g.41215424_41215429dup, NC_000022.10:g.41215423_41215429dup, NC_000022.10:g.41215422_41215429dup, NC_000022.10:g.41215421_41215429dup

Select item 14914222834.

rs1491422283 has merged into rs34313584 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 22:40821335 (GRCh38)
22:41217339 (GRCh37)
Canonical SPDI:: NC_000022.11:40821325:TTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000022.11:40821325:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000022.11:40821325:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:40821325:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:40821325:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000022.11:40821325:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:40821325:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000022.11:40821325:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000022.11:40821325:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000022.11:40821325:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000022.11:40821325:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: SLC25A17 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.11082/555 (1000Genomes)
HGVS:: NC_000022.11:g.40821335_40821342del, NC_000022.11:g.40821337_40821342del, NC_000022.11:g.40821338_40821342del, NC_000022.11:g.40821339_40821342del, NC_000022.11:g.40821340_40821342del, NC_000022.11:g.40821341_40821342del, NC_000022.11:g.40821342del, NC_000022.11:g.40821342dup, NC_000022.11:g.40821341_40821342dup, NC_000022.11:g.40821340_40821342dup, NC_000022.11:g.40821339_40821342dup, NC_000022.10:g.41217339_41217346del, NC_000022.10:g.41217341_41217346del, NC_000022.10:g.41217342_41217346del, NC_000022.10:g.41217343_41217346del, NC_000022.10:g.41217344_41217346del, NC_000022.10:g.41217345_41217346del, NC_000022.10:g.41217346del, NC_000022.10:g.41217346dup, NC_000022.10:g.41217345_41217346dup, NC_000022.10:g.41217344_41217346dup, NC_000022.10:g.41217343_41217346dup

Select item 14913892185.

rs1491389218 has merged into rs59479764 [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,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 22:40773420 (GRCh38)
22:41169424 (GRCh37)
Canonical SPDI:: NC_000022.11:40773410:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000022.11:40773410:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:40773410:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:40773410:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:40773410:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:40773410:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:40773410:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:40773410:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:40773410:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:40773410:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:40773410:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:40773410:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:40773410:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:40773410:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:40773410:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:40773410:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:40773410:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:40773410:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:40773410:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:40773410:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:40773410:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:40773410:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SLC25A17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000022.11:g.40773420_40773433del, NC_000022.11:g.40773421_40773433del, NC_000022.11:g.40773422_40773433del, NC_000022.11:g.40773423_40773433del, NC_000022.11:g.40773424_40773433del, NC_000022.11:g.40773425_40773433del, NC_000022.11:g.40773426_40773433del, NC_000022.11:g.40773427_40773433del, NC_000022.11:g.40773428_40773433del, NC_000022.11:g.40773429_40773433del, NC_000022.11:g.40773430_40773433del, NC_000022.11:g.40773431_40773433del, NC_000022.11:g.40773432_40773433del, NC_000022.11:g.40773433del, NC_000022.11:g.40773433dup, NC_000022.11:g.40773432_40773433dup, NC_000022.11:g.40773431_40773433dup, NC_000022.11:g.40773430_40773433dup, NC_000022.11:g.40773429_40773433dup, NC_000022.11:g.40773428_40773433dup, NC_000022.11:g.40773425_40773433dup, NC_000022.11:g.40773424_40773433dup, NC_000022.10:g.41169424_41169437del, NC_000022.10:g.41169425_41169437del, NC_000022.10:g.41169426_41169437del, NC_000022.10:g.41169427_41169437del, NC_000022.10:g.41169428_41169437del, NC_000022.10:g.41169429_41169437del, NC_000022.10:g.41169430_41169437del, NC_000022.10:g.41169431_41169437del, NC_000022.10:g.41169432_41169437del, NC_000022.10:g.41169433_41169437del, NC_000022.10:g.41169434_41169437del, NC_000022.10:g.41169435_41169437del, NC_000022.10:g.41169436_41169437del, NC_000022.10:g.41169437del, NC_000022.10:g.41169437dup, NC_000022.10:g.41169436_41169437dup, NC_000022.10:g.41169435_41169437dup, NC_000022.10:g.41169434_41169437dup, NC_000022.10:g.41169433_41169437dup, NC_000022.10:g.41169432_41169437dup, NC_000022.10:g.41169429_41169437dup, NC_000022.10:g.41169428_41169437dup

Select item 14913244996.

rs1491324499 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:40818646 (GRCh38)
22:41214650 (GRCh37)
Canonical SPDI:: NC_000022.11:40818645:CA:
Gene:: SLC25A17 (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_000022.11:g.40818646_40818647del, NC_000022.10:g.41214650_41214651del

Select item 14912867737.

rs1491286773 has merged into rs71200616 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 22:40784795 (GRCh38)
22:41180799 (GRCh37)
Canonical SPDI:: NC_000022.11:40784784:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:40784784:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:40784784:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:40784784:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:40784784:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:40784784:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:40784784:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:40784784:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:40784784:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:40784784:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:40784784:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:40784784:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:40784784:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:40784784:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:40784784:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:40784784:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:40784784:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:40784784:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:40784784:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:40784784:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:40784784:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:40784784:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:40784784:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:40784784:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:40784784:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:40784784:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:40784784:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:40784784:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:40784784:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:40784784:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SLC25A17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.275/11 (GENOME_DK)
A=0.4728/2368 (1000Genomes)
HGVS:: NC_000022.11:g.40784795_40784805del, NC_000022.11:g.40784796_40784805del, NC_000022.11:g.40784797_40784805del, NC_000022.11:g.40784798_40784805del, NC_000022.11:g.40784799_40784805del, NC_000022.11:g.40784800_40784805del, NC_000022.11:g.40784802_40784805del, NC_000022.11:g.40784803_40784805del, NC_000022.11:g.40784804_40784805del, NC_000022.11:g.40784805del, NC_000022.11:g.40784805dup, NC_000022.11:g.40784804_40784805dup, NC_000022.11:g.40784803_40784805dup, NC_000022.11:g.40784802_40784805dup, NC_000022.11:g.40784801_40784805dup, NC_000022.11:g.40784800_40784805dup, NC_000022.11:g.40784799_40784805dup, NC_000022.11:g.40784798_40784805dup, NC_000022.11:g.40784797_40784805dup, NC_000022.11:g.40784796_40784805dup, NC_000022.11:g.40784795_40784805dup, NC_000022.11:g.40784794_40784805dup, NC_000022.11:g.40784793_40784805dup, NC_000022.11:g.40784792_40784805dup, NC_000022.11:g.40784791_40784805dup, NC_000022.11:g.40784790_40784805dup, NC_000022.11:g.40784789_40784805dup, NC_000022.11:g.40784788_40784805dup, NC_000022.11:g.40784785_40784805dup, NC_000022.11:g.40784805_40784806insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.41180799_41180809del, NC_000022.10:g.41180800_41180809del, NC_000022.10:g.41180801_41180809del, NC_000022.10:g.41180802_41180809del, NC_000022.10:g.41180803_41180809del, NC_000022.10:g.41180804_41180809del, NC_000022.10:g.41180806_41180809del, NC_000022.10:g.41180807_41180809del, NC_000022.10:g.41180808_41180809del, NC_000022.10:g.41180809del, NC_000022.10:g.41180809dup, NC_000022.10:g.41180808_41180809dup, NC_000022.10:g.41180807_41180809dup, NC_000022.10:g.41180806_41180809dup, NC_000022.10:g.41180805_41180809dup, NC_000022.10:g.41180804_41180809dup, NC_000022.10:g.41180803_41180809dup, NC_000022.10:g.41180802_41180809dup, NC_000022.10:g.41180801_41180809dup, NC_000022.10:g.41180800_41180809dup, NC_000022.10:g.41180799_41180809dup, NC_000022.10:g.41180798_41180809dup, NC_000022.10:g.41180797_41180809dup, NC_000022.10:g.41180796_41180809dup, NC_000022.10:g.41180795_41180809dup, NC_000022.10:g.41180794_41180809dup, NC_000022.10:g.41180793_41180809dup, NC_000022.10:g.41180792_41180809dup, NC_000022.10:g.41180789_41180809dup, NC_000022.10:g.41180809_41180810insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14912575268.

rs1491257526 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:40796615 (GRCh38)
22:41192619 (GRCh37)
Canonical SPDI:: NC_000022.11:40796614:CA:
Gene:: SLC25A17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000042/5 (GnomAD)
HGVS:: NC_000022.11:g.40796615_40796616del, NC_000022.10:g.41192619_41192620del

Select item 14912478799.

rs1491247879 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 22:40810347 (GRCh38)
22:41206351 (GRCh37)
Canonical SPDI:: NC_000022.11:40810345:TCT:T
Gene:: SLC25A17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000022.11:g.40810347_40810348del, NC_000022.10:g.41206351_41206352del

Select item 149120451810.

rs1491204518 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAGT [Show Flanks]
Chromosome:: 22:40818646 (GRCh38)
22:41214651 (GRCh37)
Canonical SPDI:: NC_000022.11:40818646:AGTGAGT:AGTGAGTGAGT
Gene:: SLC25A17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGTGAGTGAGT=0.0002/1 (ALFA)
AGTG=0.0002/1 (Estonian)
HGVS:: NC_000022.11:g.40818650_40818653dup, NC_000022.10:g.41214654_41214657dup

Select item 149120173511.

rs1491201735 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 22:40810346 (GRCh38)
22:41206351 (GRCh37)
Canonical SPDI:: NC_000022.11:40810346:C:CC
Gene:: SLC25A17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.40810347dup, NC_000022.10:g.41206351dup

Select item 149120084512.

rs1491200845 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:40773410 (GRCh38)
22:41169414 (GRCh37)
Canonical SPDI:: NC_000022.11:40773409:CA:
Gene:: SLC25A17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00012/8 (GnomAD)
HGVS:: NC_000022.11:g.40773410_40773411del, NC_000022.10:g.41169414_41169415del

Select item 149114402513.

rs1491144025 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 22:40814790 (GRCh38)
22:41210794 (GRCh37)
Canonical SPDI:: NC_000022.11:40814789:TT:
Gene:: SLC25A17 (Varview), MIR4766 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.001025/104 (GnomAD)
-=0.001345/23 (TOMMO)
HGVS:: NC_000022.11:g.40814790_40814791del, NC_000022.10:g.41210794_41210795del

Select item 149111648114.

rs1491116481 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 22:40784785 (GRCh38)
22:41180790 (GRCh37)
Canonical SPDI:: NC_000022.11:40784785::G
Gene:: SLC25A17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00168/20 (TOMMO)
HGVS:: NC_000022.11:g.40784785_40784786insG, NC_000022.10:g.41180789_41180790insG

Select item 149107967515.

rs1491079675 has merged into rs138331 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 22:40820882 (GRCh38)
22:41216886 (GRCh37)
Canonical SPDI:: NC_000022.11:40820871:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000022.11:40820871:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000022.11:40820871:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:40820871:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:40820871:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:40820871:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: SLC25A17 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
T=0./0 (ALSPAC)
T=0./0 (TWINSUK)
T=0.0067/4 (NorthernSweden)
T=0.025/1 (GENOME_DK)
HGVS:: NC_000022.11:g.40820882_40820885del, NC_000022.11:g.40820883_40820885del, NC_000022.11:g.40820884_40820885del, NC_000022.11:g.40820885del, NC_000022.11:g.40820885dup, NC_000022.11:g.40820882_40820885dup, NC_000022.10:g.41216886_41216889del, NC_000022.10:g.41216887_41216889del, NC_000022.10:g.41216888_41216889del, NC_000022.10:g.41216889del, NC_000022.10:g.41216889dup, NC_000022.10:g.41216886_41216889dup

Select item 149107952716.

rs1491079527 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 22:40816611 (GRCh38)
22:41212616 (GRCh37)
Canonical SPDI:: NC_000022.11:40816611::G
Gene:: SLC25A17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000067/1 (GnomAD)
HGVS:: NC_000022.11:g.40816611_40816612insG, NC_000022.10:g.41212615_41212616insG

Select item 149104407717.

rs1491044077 has merged into rs150918938 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 22:40800803 (GRCh38)
22:41196807 (GRCh37)
Canonical SPDI:: NC_000022.11:40800789:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:40800789:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:40800789:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:40800789:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:40800789:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:40800789:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:40800789:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:40800789:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SLC25A17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.096845/485 (1000Genomes)
A=0.4/16 (GENOME_DK)
HGVS:: NC_000022.11:g.40800803_40800806del, NC_000022.11:g.40800804_40800806del, NC_000022.11:g.40800805_40800806del, NC_000022.11:g.40800806del, NC_000022.11:g.40800806dup, NC_000022.11:g.40800805_40800806dup, NC_000022.11:g.40800804_40800806dup, NC_000022.11:g.40800800_40800806dup, NC_000022.10:g.41196807_41196810del, NC_000022.10:g.41196808_41196810del, NC_000022.10:g.41196809_41196810del, NC_000022.10:g.41196810del, NC_000022.10:g.41196810dup, NC_000022.10:g.41196809_41196810dup, NC_000022.10:g.41196808_41196810dup, NC_000022.10:g.41196804_41196810dup

Select item 149104021118.

rs1491040211 has merged into rs372260313 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 22:40812055 (GRCh38)
22:41208059 (GRCh37)
Canonical SPDI:: NC_000022.11:40812053:TTT:T
Gene:: SLC25A17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000022.11:g.40812055_40812056del, NC_000022.10:g.41208059_41208060del

Select item 149103702619.

rs1491037026 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 22:40814789 (GRCh38)
22:41210794 (GRCh37)
Canonical SPDI:: NC_000022.11:40814789::G
Gene:: SLC25A17 (Varview), MIR4766 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.00008/1 (ALFA)
HGVS:: NC_000022.11:g.40814789_40814790insG, NC_000022.10:g.41210793_41210794insG

Select item 149100293720.

rs1491002937 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:40817443 (GRCh38)
22:41213447 (GRCh37)
Canonical SPDI:: NC_000022.11:40817442:C:G
Gene:: SLC25A17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.40817443C>G, NC_000022.10:g.41213447C>G

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