SNP Links for Gene (Select 6709) - SNP

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Select item 14915291151.

rs1491529115 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATA [Show Flanks]
Chromosome:: 9:128570331 (GRCh38)
9:131332611 (GRCh37)
Canonical SPDI:: NC_000009.12:128570331::A,NC_000009.12:128570331::ATA,NC_000009.12:128570331::ATATA,NC_000009.12:128570331::ATATATA,NC_000009.12:128570331::ATATATATA,NC_000009.12:128570331::ATATATATATA,NC_000009.12:128570331::ATATATATATATA,NC_000009.12:128570331::ATATATATATATATA
Gene:: SPTAN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
ATATATA=0.00014/1 (GnomAD)
HGVS:: NC_000009.12:g.128570331_128570332insA, NC_000009.12:g.128570331_128570332insATA, NC_000009.12:g.128570331_128570332insATATA, NC_000009.12:g.128570331_128570332insATATATA, NC_000009.12:g.128570331_128570332insATATATATA, NC_000009.12:g.128570331_128570332insATATATATATA, NC_000009.12:g.128570331_128570332insATATATATATATA, NC_000009.12:g.128570331_128570332insATATATATATATATA, NC_000009.11:g.131332610_131332611insA, NC_000009.11:g.131332610_131332611insATA, NC_000009.11:g.131332610_131332611insATATA, NC_000009.11:g.131332610_131332611insATATATA, NC_000009.11:g.131332610_131332611insATATATATA, NC_000009.11:g.131332610_131332611insATATATATATA, NC_000009.11:g.131332610_131332611insATATATATATATA, NC_000009.11:g.131332610_131332611insATATATATATATATA, NG_027748.1:g.22774_22775insA, NG_027748.1:g.22774_22775insATA, NG_027748.1:g.22774_22775insATATA, NG_027748.1:g.22774_22775insATATATA, NG_027748.1:g.22774_22775insATATATATA, NG_027748.1:g.22774_22775insATATATATATA, NG_027748.1:g.22774_22775insATATATATATATA, NG_027748.1:g.22774_22775insATATATATATATATA

Select item 14915122142.

rs1491512214 has merged into rs541960678 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:128570341 (GRCh38)
9:131332620 (GRCh37)
Canonical SPDI:: NC_000009.12:128570330:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:128570330:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:128570330:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:128570330:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:128570330:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:128570330:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:128570330:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:128570330:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:128570330:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:128570330:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:128570330:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:128570330:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:128570330:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:128570330:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:128570330:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:128570330:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:128570330:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:128570330:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:128570330:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SPTAN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.125/5 (GENOME_DK)
TTTTTTTTTTT=0.2825/1415 (1000Genomes)
HGVS:: NC_000009.12:g.128570341_128570354del, NC_000009.12:g.128570342_128570354del, NC_000009.12:g.128570343_128570354del, NC_000009.12:g.128570344_128570354del, NC_000009.12:g.128570345_128570354del, NC_000009.12:g.128570346_128570354del, NC_000009.12:g.128570347_128570354del, NC_000009.12:g.128570348_128570354del, NC_000009.12:g.128570349_128570354del, NC_000009.12:g.128570350_128570354del, NC_000009.12:g.128570351_128570354del, NC_000009.12:g.128570352_128570354del, NC_000009.12:g.128570353_128570354del, NC_000009.12:g.128570354del, NC_000009.12:g.128570354dup, NC_000009.12:g.128570353_128570354dup, NC_000009.12:g.128570352_128570354dup, NC_000009.12:g.128570350_128570354dup, NC_000009.12:g.128570349_128570354dup, NC_000009.11:g.131332620_131332633del, NC_000009.11:g.131332621_131332633del, NC_000009.11:g.131332622_131332633del, NC_000009.11:g.131332623_131332633del, NC_000009.11:g.131332624_131332633del, NC_000009.11:g.131332625_131332633del, NC_000009.11:g.131332626_131332633del, NC_000009.11:g.131332627_131332633del, NC_000009.11:g.131332628_131332633del, NC_000009.11:g.131332629_131332633del, NC_000009.11:g.131332630_131332633del, NC_000009.11:g.131332631_131332633del, NC_000009.11:g.131332632_131332633del, NC_000009.11:g.131332633del, NC_000009.11:g.131332633dup, NC_000009.11:g.131332632_131332633dup, NC_000009.11:g.131332631_131332633dup, NC_000009.11:g.131332629_131332633dup, NC_000009.11:g.131332628_131332633dup, NG_027748.1:g.22784_22797del, NG_027748.1:g.22785_22797del, NG_027748.1:g.22786_22797del, NG_027748.1:g.22787_22797del, NG_027748.1:g.22788_22797del, NG_027748.1:g.22789_22797del, NG_027748.1:g.22790_22797del, NG_027748.1:g.22791_22797del, NG_027748.1:g.22792_22797del, NG_027748.1:g.22793_22797del, NG_027748.1:g.22794_22797del, NG_027748.1:g.22795_22797del, NG_027748.1:g.22796_22797del, NG_027748.1:g.22797del, NG_027748.1:g.22797dup, NG_027748.1:g.22796_22797dup, NG_027748.1:g.22795_22797dup, NG_027748.1:g.22793_22797dup, NG_027748.1:g.22792_22797dup

Select item 14914909803.

rs1491490980 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 9:128589575 (GRCh38)
9:131351854 (GRCh37)
Canonical SPDI:: NC_000009.12:128589574:CT:
Gene:: SPTAN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000009.12:g.128589575_128589576del, NC_000009.11:g.131351854_131351855del, NG_027748.1:g.42018_42019del

Select item 14914857574.

rs1491485757 has merged into rs751209866 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 9:128555636 (GRCh38)
9:131317915 (GRCh37)
Canonical SPDI:: NC_000009.12:128555620:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:128555620:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:128555620:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:128555620:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:128555620:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:128555620:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:128555620:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:128555620:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:128555620:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:128555620:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SPTAN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.0723/34 (NorthernSweden)
HGVS:: NC_000009.12:g.128555636_128555643del, NC_000009.12:g.128555637_128555643del, NC_000009.12:g.128555638_128555643del, NC_000009.12:g.128555639_128555643del, NC_000009.12:g.128555640_128555643del, NC_000009.12:g.128555641_128555643del, NC_000009.12:g.128555642_128555643del, NC_000009.12:g.128555643del, NC_000009.12:g.128555643dup, NC_000009.12:g.128555642_128555643dup, NC_000009.11:g.131317915_131317922del, NC_000009.11:g.131317916_131317922del, NC_000009.11:g.131317917_131317922del, NC_000009.11:g.131317918_131317922del, NC_000009.11:g.131317919_131317922del, NC_000009.11:g.131317920_131317922del, NC_000009.11:g.131317921_131317922del, NC_000009.11:g.131317922del, NC_000009.11:g.131317922dup, NC_000009.11:g.131317921_131317922dup, NG_027748.1:g.8079_8086del, NG_027748.1:g.8080_8086del, NG_027748.1:g.8081_8086del, NG_027748.1:g.8082_8086del, NG_027748.1:g.8083_8086del, NG_027748.1:g.8084_8086del, NG_027748.1:g.8085_8086del, NG_027748.1:g.8086del, NG_027748.1:g.8086dup, NG_027748.1:g.8085_8086dup

Select item 14914724615.

rs1491472461 has merged into rs57225212 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT [Show Flanks]
Chromosome:: 9:128589588 (GRCh38)
9:131351867 (GRCh37)
Canonical SPDI:: NC_000009.12:128589575:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:128589575:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:128589575:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:128589575:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:128589575:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:128589575:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:128589575:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:128589575:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:128589575:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: SPTAN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
TT=0.0533/267 (1000Genomes)
HGVS:: NC_000009.12:g.128589588_128589593del, NC_000009.12:g.128589589_128589593del, NC_000009.12:g.128589590_128589593del, NC_000009.12:g.128589591_128589593del, NC_000009.12:g.128589592_128589593del, NC_000009.12:g.128589593del, NC_000009.12:g.128589593dup, NC_000009.12:g.128589592_128589593dup, NC_000009.12:g.128589591_128589593dup, NC_000009.11:g.131351867_131351872del, NC_000009.11:g.131351868_131351872del, NC_000009.11:g.131351869_131351872del, NC_000009.11:g.131351870_131351872del, NC_000009.11:g.131351871_131351872del, NC_000009.11:g.131351872del, NC_000009.11:g.131351872dup, NC_000009.11:g.131351871_131351872dup, NC_000009.11:g.131351870_131351872dup, NG_027748.1:g.42031_42036del, NG_027748.1:g.42032_42036del, NG_027748.1:g.42033_42036del, NG_027748.1:g.42034_42036del, NG_027748.1:g.42035_42036del, NG_027748.1:g.42036del, NG_027748.1:g.42036dup, NG_027748.1:g.42035_42036dup, NG_027748.1:g.42034_42036dup

Select item 14914590846.

rs1491459084 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->CAAAAAA
Chromosome:: no mapping
Canonical SPDI:

Select item 14914571377.

rs1491457137 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:128581489 (GRCh38)
9:131343768 (GRCh37)
Canonical SPDI:: NC_000009.12:128581487:ACA:A
Gene:: SPTAN1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.018462/219 (ALFA)
-=0.022011/3019 (GnomAD)
HGVS:: NC_000009.12:g.128581489_128581490del, NC_000009.11:g.131343768_131343769del, NG_027748.1:g.33932_33933del

Select item 14914465198.

rs1491446519 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A,AA,AAA [Show Flanks]
Chromosome:: 9:128581472 (GRCh38)
9:131343752 (GRCh37)
Canonical SPDI:: NC_000009.12:128581472:A:AA,NC_000009.12:128581472:A:AAA,NC_000009.12:128581472:A:AAAA
Gene:: SPTAN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
A=0.00385/7 (Korea1K)
HGVS:: NC_000009.12:g.128581473dup, NC_000009.12:g.128581473_128581474insAA, NC_000009.12:g.128581473_128581474insAAA, NC_000009.11:g.131343752dup, NC_000009.11:g.131343752_131343753insAA, NC_000009.11:g.131343752_131343753insAAA, NG_027748.1:g.33916dup, NG_027748.1:g.33916_33917insAA, NG_027748.1:g.33916_33917insAAA

Select item 14914042619.

rs1491404261 [Homo sapiens]

Variant type:: INS
Alleles:: ->AT,ATGCCCCCAGCCATA,ATGCCCCTA [Show Flanks]
Chromosome:: 9:128597938 (GRCh38)
9:131360218 (GRCh37)
Canonical SPDI:: NC_000009.12:128597938::AT,NC_000009.12:128597938::ATGCCCCCAGCCATA,NC_000009.12:128597938::ATGCCCCTA
Gene:: SPTAN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AT=0.000671/3 (ALFA)
ATGCCCCTA=0.000007/1 (GnomAD)
AT=0.00067/3 (Estonian)
HGVS:: NC_000009.12:g.128597938_128597939insAT, NC_000009.12:g.128597938_128597939insATGCCCCCAGCCATA, NC_000009.12:g.128597938_128597939insATGCCCCTA, NC_000009.11:g.131360217_131360218insAT, NC_000009.11:g.131360217_131360218insATGCCCCCAGCCATA, NC_000009.11:g.131360217_131360218insATGCCCCTA, NG_027748.1:g.50381_50382insAT, NG_027748.1:g.50381_50382insATGCCCCCAGCCATA, NG_027748.1:g.50381_50382insATGCCCCTA

Select item 149137469010.

rs1491374690 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>- [Show Flanks]
Chromosome:: 9:128597939 (GRCh38)
9:131360218 (GRCh37)
Canonical SPDI:: NC_000009.12:128597937:CGC:C
Gene:: SPTAN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.0007/3 (ALFA)
-=0.0007/3 (Estonian)
HGVS:: NC_000009.12:g.128597939_128597940del, NC_000009.11:g.131360218_131360219del, NG_027748.1:g.50382_50383del

Select item 149137194411.

rs1491371944 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:128561662 (GRCh38)
9:131323941 (GRCh37)
Canonical SPDI:: NC_000009.12:128561661:CA:
Gene:: SPTAN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000009.12:g.128561662_128561663del, NC_000009.11:g.131323941_131323942del, NG_027748.1:g.14105_14106del

Select item 149137084212.

rs1491370842 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGTATAT [Show Flanks]
Chromosome:: 9:128617252 (GRCh38)
9:131379532 (GRCh37)
Canonical SPDI:: NC_000009.12:128617252:TGTGTATAT:TGTGTATATGTGTATAT
Gene:: SPTAN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGTGTATATGTGTATAT=0./0 (ALFA)
TGTGTATA=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.128617254_128617261dup, NC_000009.11:g.131379533_131379540dup, NG_027748.1:g.69697_69704dup

Select item 149132536713.

rs1491325367 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 9:128594804 (GRCh38)
9:131357083 (GRCh37)
Canonical SPDI:: NC_000009.12:128594803:CT:
Gene:: SPTAN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00782/29 (TWINSUK)
-=0.00804/31 (ALSPAC)
HGVS:: NC_000009.12:g.128594804_128594805del, NC_000009.11:g.131357083_131357084del, NG_027748.1:g.47247_47248del

Select item 149130436414.

rs1491304364 has merged into rs11444346 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:128624097 (GRCh38)
9:131386376 (GRCh37)
Canonical SPDI:: NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SPTAN1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAA=0.0531/266 (1000Genomes)
HGVS:: NC_000009.12:g.128624097_128624112del, NC_000009.12:g.128624098_128624112del, NC_000009.12:g.128624099_128624112del, NC_000009.12:g.128624100_128624112del, NC_000009.12:g.128624101_128624112del, NC_000009.12:g.128624102_128624112del, NC_000009.12:g.128624103_128624112del, NC_000009.12:g.128624104_128624112del, NC_000009.12:g.128624105_128624112del, NC_000009.12:g.128624106_128624112del, NC_000009.12:g.128624107_128624112del, NC_000009.12:g.128624108_128624112del, NC_000009.12:g.128624109_128624112del, NC_000009.12:g.128624111_128624112del, NC_000009.12:g.128624112del, NC_000009.12:g.128624112dup, NC_000009.12:g.128624111_128624112dup, NC_000009.12:g.128624110_128624112dup, NC_000009.12:g.128624109_128624112dup, NC_000009.12:g.128624108_128624112dup, NC_000009.12:g.128624107_128624112dup, NC_000009.11:g.131386376_131386391del, NC_000009.11:g.131386377_131386391del, NC_000009.11:g.131386378_131386391del, NC_000009.11:g.131386379_131386391del, NC_000009.11:g.131386380_131386391del, NC_000009.11:g.131386381_131386391del, NC_000009.11:g.131386382_131386391del, NC_000009.11:g.131386383_131386391del, NC_000009.11:g.131386384_131386391del, NC_000009.11:g.131386385_131386391del, NC_000009.11:g.131386386_131386391del, NC_000009.11:g.131386387_131386391del, NC_000009.11:g.131386388_131386391del, NC_000009.11:g.131386390_131386391del, NC_000009.11:g.131386391del, NC_000009.11:g.131386391dup, NC_000009.11:g.131386390_131386391dup, NC_000009.11:g.131386389_131386391dup, NC_000009.11:g.131386388_131386391dup, NC_000009.11:g.131386387_131386391dup, NC_000009.11:g.131386386_131386391dup, NG_027748.1:g.76540_76555del, NG_027748.1:g.76541_76555del, NG_027748.1:g.76542_76555del, NG_027748.1:g.76543_76555del, NG_027748.1:g.76544_76555del, NG_027748.1:g.76545_76555del, NG_027748.1:g.76546_76555del, NG_027748.1:g.76547_76555del, NG_027748.1:g.76548_76555del, NG_027748.1:g.76549_76555del, NG_027748.1:g.76550_76555del, NG_027748.1:g.76551_76555del, NG_027748.1:g.76552_76555del, NG_027748.1:g.76554_76555del, NG_027748.1:g.76555del, NG_027748.1:g.76555dup, NG_027748.1:g.76554_76555dup, NG_027748.1:g.76553_76555dup, NG_027748.1:g.76552_76555dup, NG_027748.1:g.76551_76555dup, NG_027748.1:g.76550_76555dup

Select item 149123439115.

rs1491234391 has merged into rs200725239 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT [Show Flanks]
Chromosome:: 9:128606495 (GRCh38)
9:131368774 (GRCh37)
Canonical SPDI:: NC_000009.12:128606487:TTTTTTTTTT:TTTTTTT,NC_000009.12:128606487:TTTTTTTTTT:TTTTTTTT,NC_000009.12:128606487:TTTTTTTTTT:TTTTTTTTT,NC_000009.12:128606487:TTTTTTTTTT:TTTTTTTTTTT
Gene:: SPTAN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000009.12:g.128606495_128606497del, NC_000009.12:g.128606496_128606497del, NC_000009.12:g.128606497del, NC_000009.12:g.128606497dup, NC_000009.11:g.131368774_131368776del, NC_000009.11:g.131368775_131368776del, NC_000009.11:g.131368776del, NC_000009.11:g.131368776dup, NG_027748.1:g.58938_58940del, NG_027748.1:g.58939_58940del, NG_027748.1:g.58940del, NG_027748.1:g.58940dup

Select item 149121364716.

rs1491213647 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 9:128617256 (GRCh38)
9:131379535 (GRCh37)
Canonical SPDI:: NC_000009.12:128617251:GTGTGT:GTGT
Gene:: SPTAN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTGT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.128617252GT[2], NC_000009.11:g.131379531GT[2], NG_027748.1:g.69695GT[2]

Select item 149119365917.

rs1491193659 has merged into rs11429372 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:128581487 (GRCh38)
9:131343766 (GRCh37)
Canonical SPDI:: NC_000009.12:128581474:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:128581474:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:128581474:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:128581474:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:128581474:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:128581474:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:128581474:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:128581474:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128581474:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128581474:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SPTAN1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.4581/2294 (1000Genomes)
HGVS:: NC_000009.12:g.128581487_128581488del, NC_000009.12:g.128581488del, NC_000009.12:g.128581488dup, NC_000009.12:g.128581487_128581488dup, NC_000009.12:g.128581486_128581488dup, NC_000009.12:g.128581485_128581488dup, NC_000009.12:g.128581484_128581488dup, NC_000009.12:g.128581479_128581488dup, NC_000009.12:g.128581476_128581488dup, NC_000009.12:g.128581475_128581488dup, NC_000009.11:g.131343766_131343767del, NC_000009.11:g.131343767del, NC_000009.11:g.131343767dup, NC_000009.11:g.131343766_131343767dup, NC_000009.11:g.131343765_131343767dup, NC_000009.11:g.131343764_131343767dup, NC_000009.11:g.131343763_131343767dup, NC_000009.11:g.131343758_131343767dup, NC_000009.11:g.131343755_131343767dup, NC_000009.11:g.131343754_131343767dup, NG_027748.1:g.33930_33931del, NG_027748.1:g.33931del, NG_027748.1:g.33931dup, NG_027748.1:g.33930_33931dup, NG_027748.1:g.33929_33931dup, NG_027748.1:g.33928_33931dup, NG_027748.1:g.33927_33931dup, NG_027748.1:g.33922_33931dup, NG_027748.1:g.33919_33931dup, NG_027748.1:g.33918_33931dup

Select item 149119260018.

rs1491192600 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:128624086 (GRCh38)
9:131386365 (GRCh37)
Canonical SPDI:: NC_000009.12:128624085:CA:
Gene:: SPTAN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000009.12:g.128624086_128624087del, NC_000009.11:g.131386365_131386366del, NG_027748.1:g.76529_76530del

Select item 149118203119.

rs1491182031 has merged into rs59257779 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:128606386 (GRCh38)
9:131368665 (GRCh37)
Canonical SPDI:: NC_000009.12:128606374:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:128606374:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:128606374:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:128606374:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:128606374:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:128606374:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:128606374:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:128606374:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:128606374:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:128606374:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128606374:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128606374:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128606374:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128606374:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128606374:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128606374:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128606374:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128606374:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128606374:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SPTAN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.03/150 (1000Genomes)
HGVS:: NC_000009.12:g.128606386_128606392del, NC_000009.12:g.128606387_128606392del, NC_000009.12:g.128606388_128606392del, NC_000009.12:g.128606389_128606392del, NC_000009.12:g.128606390_128606392del, NC_000009.12:g.128606391_128606392del, NC_000009.12:g.128606392del, NC_000009.12:g.128606392dup, NC_000009.12:g.128606391_128606392dup, NC_000009.12:g.128606390_128606392dup, NC_000009.12:g.128606389_128606392dup, NC_000009.12:g.128606388_128606392dup, NC_000009.12:g.128606387_128606392dup, NC_000009.12:g.128606386_128606392dup, NC_000009.12:g.128606385_128606392dup, NC_000009.12:g.128606384_128606392dup, NC_000009.12:g.128606383_128606392dup, NC_000009.12:g.128606382_128606392dup, NC_000009.12:g.128606392_128606393insAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.131368665_131368671del, NC_000009.11:g.131368666_131368671del, NC_000009.11:g.131368667_131368671del, NC_000009.11:g.131368668_131368671del, NC_000009.11:g.131368669_131368671del, NC_000009.11:g.131368670_131368671del, NC_000009.11:g.131368671del, NC_000009.11:g.131368671dup, NC_000009.11:g.131368670_131368671dup, NC_000009.11:g.131368669_131368671dup, NC_000009.11:g.131368668_131368671dup, NC_000009.11:g.131368667_131368671dup, NC_000009.11:g.131368666_131368671dup, NC_000009.11:g.131368665_131368671dup, NC_000009.11:g.131368664_131368671dup, NC_000009.11:g.131368663_131368671dup, NC_000009.11:g.131368662_131368671dup, NC_000009.11:g.131368661_131368671dup, NC_000009.11:g.131368671_131368672insAAAAAAAAAAAAAAAAAAAA, NG_027748.1:g.58829_58835del, NG_027748.1:g.58830_58835del, NG_027748.1:g.58831_58835del, NG_027748.1:g.58832_58835del, NG_027748.1:g.58833_58835del, NG_027748.1:g.58834_58835del, NG_027748.1:g.58835del, NG_027748.1:g.58835dup, NG_027748.1:g.58834_58835dup, NG_027748.1:g.58833_58835dup, NG_027748.1:g.58832_58835dup, NG_027748.1:g.58831_58835dup, NG_027748.1:g.58830_58835dup, NG_027748.1:g.58829_58835dup, NG_027748.1:g.58828_58835dup, NG_027748.1:g.58827_58835dup, NG_027748.1:g.58826_58835dup, NG_027748.1:g.58825_58835dup, NG_027748.1:g.58835_58836insAAAAAAAAAAAAAAAAAAAA

Select item 149113799820.

rs1491137998 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:128581474 (GRCh38)
9:131343753 (GRCh37)
Canonical SPDI:: NC_000009.12:128581471:CACA:CA
Gene:: SPTAN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CACA=0.00025/3 (ALFA)
HGVS:: NC_000009.12:g.128581472CA[1], NC_000009.11:g.131343751CA[1], NG_027748.1:g.33915CA[1]

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