SNP Links for Nucleotide (Select 254911114) - SNP

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Select item 14915623811.

rs1491562381 has merged into rs780225300 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAAAAAAAA>-,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:129504556 (GRCh38)
X:128638533 (GRCh37)
Canonical SPDI:: NC_000023.11:129504549:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000023.11:129504549:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:129504549:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:129504549:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:129504549:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:129504549:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:129504549:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:129504549:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:129504549:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:129504549:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:129504549:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:129504549:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:129504549:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:129504549:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:129504549:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:129504549:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:129504549:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:129504549:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:129504549:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:129504549:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:129504549:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:129504549:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:129504549:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:129504549:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:129504549:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:129504549:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:129504549:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:129504549:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:129504549:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:129504549:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:129504549:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:129504549:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:129504549:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:129504549:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:129504549:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:129504549:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:129504549:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:129504549:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:129504549:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:129504549:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:129504549:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:129504549:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:129504549:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:129504549:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:129504549:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:129504549:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:129504549:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SMARCA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
AAAAAAAAAAAAAAAAAA=0.4098/1547 (1000Genomes)
HGVS:: NC_000023.11:g.129504556_129504581del, NC_000023.11:g.129504561_129504581del, NC_000023.11:g.129504563_129504581del, NC_000023.11:g.129504564_129504581del, NC_000023.11:g.129504565_129504581del, NC_000023.11:g.129504566_129504581del, NC_000023.11:g.129504567_129504581del, NC_000023.11:g.129504568_129504581del, NC_000023.11:g.129504569_129504581del, NC_000023.11:g.129504570_129504581del, NC_000023.11:g.129504571_129504581del, NC_000023.11:g.129504572_129504581del, NC_000023.11:g.129504573_129504581del, NC_000023.11:g.129504574_129504581del, NC_000023.11:g.129504575_129504581del, NC_000023.11:g.129504576_129504581del, NC_000023.11:g.129504577_129504581del, NC_000023.11:g.129504578_129504581del, NC_000023.11:g.129504579_129504581del, NC_000023.11:g.129504580_129504581del, NC_000023.11:g.129504581del, NC_000023.11:g.129504581dup, NC_000023.11:g.129504580_129504581dup, NC_000023.11:g.129504579_129504581dup, NC_000023.11:g.129504578_129504581dup, NC_000023.11:g.129504577_129504581dup, NC_000023.11:g.129504576_129504581dup, NC_000023.11:g.129504575_129504581dup, NC_000023.11:g.129504574_129504581dup, NC_000023.11:g.129504573_129504581dup, NC_000023.11:g.129504572_129504581dup, NC_000023.11:g.129504571_129504581dup, NC_000023.11:g.129504570_129504581dup, NC_000023.11:g.129504569_129504581dup, NC_000023.11:g.129504568_129504581dup, NC_000023.11:g.129504567_129504581dup, NC_000023.11:g.129504566_129504581dup, NC_000023.11:g.129504565_129504581dup, NC_000023.11:g.129504564_129504581dup, NC_000023.11:g.129504563_129504581dup, NC_000023.11:g.129504562_129504581dup, NC_000023.11:g.129504561_129504581dup, NC_000023.11:g.129504560_129504581dup, NC_000023.11:g.129504559_129504581dup, NC_000023.11:g.129504556_129504581dup, NC_000023.11:g.129504555_129504581dup, NC_000023.11:g.129504553_129504581dup, NC_000023.10:g.128638533_128638558del, NC_000023.10:g.128638538_128638558del, NC_000023.10:g.128638540_128638558del, NC_000023.10:g.128638541_128638558del, NC_000023.10:g.128638542_128638558del, NC_000023.10:g.128638543_128638558del, NC_000023.10:g.128638544_128638558del, NC_000023.10:g.128638545_128638558del, NC_000023.10:g.128638546_128638558del, NC_000023.10:g.128638547_128638558del, NC_000023.10:g.128638548_128638558del, NC_000023.10:g.128638549_128638558del, NC_000023.10:g.128638550_128638558del, NC_000023.10:g.128638551_128638558del, NC_000023.10:g.128638552_128638558del, NC_000023.10:g.128638553_128638558del, NC_000023.10:g.128638554_128638558del, NC_000023.10:g.128638555_128638558del, NC_000023.10:g.128638556_128638558del, NC_000023.10:g.128638557_128638558del, NC_000023.10:g.128638558del, NC_000023.10:g.128638558dup, NC_000023.10:g.128638557_128638558dup, NC_000023.10:g.128638556_128638558dup, NC_000023.10:g.128638555_128638558dup, NC_000023.10:g.128638554_128638558dup, NC_000023.10:g.128638553_128638558dup, NC_000023.10:g.128638552_128638558dup, NC_000023.10:g.128638551_128638558dup, NC_000023.10:g.128638550_128638558dup, NC_000023.10:g.128638549_128638558dup, NC_000023.10:g.128638548_128638558dup, NC_000023.10:g.128638547_128638558dup, NC_000023.10:g.128638546_128638558dup, NC_000023.10:g.128638545_128638558dup, NC_000023.10:g.128638544_128638558dup, NC_000023.10:g.128638543_128638558dup, NC_000023.10:g.128638542_128638558dup, NC_000023.10:g.128638541_128638558dup, NC_000023.10:g.128638540_128638558dup, NC_000023.10:g.128638539_128638558dup, NC_000023.10:g.128638538_128638558dup, NC_000023.10:g.128638537_128638558dup, NC_000023.10:g.128638536_128638558dup, NC_000023.10:g.128638533_128638558dup, NC_000023.10:g.128638532_128638558dup, NC_000023.10:g.128638530_128638558dup, NG_012526.1:g.23909_23934del, NG_012526.1:g.23914_23934del, NG_012526.1:g.23916_23934del, NG_012526.1:g.23917_23934del, NG_012526.1:g.23918_23934del, NG_012526.1:g.23919_23934del, NG_012526.1:g.23920_23934del, NG_012526.1:g.23921_23934del, NG_012526.1:g.23922_23934del, NG_012526.1:g.23923_23934del, NG_012526.1:g.23924_23934del, NG_012526.1:g.23925_23934del, NG_012526.1:g.23926_23934del, NG_012526.1:g.23927_23934del, NG_012526.1:g.23928_23934del, NG_012526.1:g.23929_23934del, NG_012526.1:g.23930_23934del, NG_012526.1:g.23931_23934del, NG_012526.1:g.23932_23934del, NG_012526.1:g.23933_23934del, NG_012526.1:g.23934del, NG_012526.1:g.23934dup, NG_012526.1:g.23933_23934dup, NG_012526.1:g.23932_23934dup, NG_012526.1:g.23931_23934dup, NG_012526.1:g.23930_23934dup, NG_012526.1:g.23929_23934dup, NG_012526.1:g.23928_23934dup, NG_012526.1:g.23927_23934dup, NG_012526.1:g.23926_23934dup, NG_012526.1:g.23925_23934dup, NG_012526.1:g.23924_23934dup, NG_012526.1:g.23923_23934dup, NG_012526.1:g.23922_23934dup, NG_012526.1:g.23921_23934dup, NG_012526.1:g.23920_23934dup, NG_012526.1:g.23919_23934dup, NG_012526.1:g.23918_23934dup, NG_012526.1:g.23917_23934dup, NG_012526.1:g.23916_23934dup, NG_012526.1:g.23915_23934dup, NG_012526.1:g.23914_23934dup, NG_012526.1:g.23913_23934dup, NG_012526.1:g.23912_23934dup, NG_012526.1:g.23909_23934dup, NG_012526.1:g.23908_23934dup, NG_012526.1:g.23906_23934dup

Select item 14914670992.

rs1491467099 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAAAAA [Show Flanks]
Chromosome:: X:129504550 (GRCh38)
X:128638528 (GRCh37)
Canonical SPDI:: NC_000023.11:129504550:AAAAA:AAAAACAAAAA
Gene:: SMARCA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAAACAAAAA=0.00135/16 (ALFA)
HGVS:: NC_000023.11:g.129504551_129504555A[5]CAAAAA[1], NC_000023.10:g.128638528_128638532A[5]CAAAAA[1], NG_012526.1:g.23929_23933T[5]GTTTTT[1]

Select item 14913415353.

rs1491341535 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: X:129496999 (GRCh38)
X:128630976 (GRCh37)
Canonical SPDI:: NC_000023.11:129496998:GC:
Gene:: SMARCA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000023.11:g.129496999_129497000del, NC_000023.10:g.128630976_128630977del, NG_012526.1:g.31484_31485del

Select item 14910763254.

rs1491076325 has merged into rs10706195 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: X:129509199 (GRCh38)
X:128643176 (GRCh37)
Canonical SPDI:: NC_000023.11:129509188:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000023.11:129509188:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:129509188:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:129509188:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:129509188:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:129509188:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:129509188:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: SMARCA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.000026/7 (TOPMED)
-=0.210596/795 (1000Genomes)
HGVS:: NC_000023.11:g.129509199_129509204del, NC_000023.11:g.129509200_129509204del, NC_000023.11:g.129509203_129509204del, NC_000023.11:g.129509204del, NC_000023.11:g.129509204dup, NC_000023.11:g.129509203_129509204dup, NC_000023.11:g.129509202_129509204dup, NC_000023.10:g.128643176_128643181del, NC_000023.10:g.128643177_128643181del, NC_000023.10:g.128643180_128643181del, NC_000023.10:g.128643181del, NC_000023.10:g.128643181dup, NC_000023.10:g.128643180_128643181dup, NC_000023.10:g.128643179_128643181dup, NG_012526.1:g.19290_19295del, NG_012526.1:g.19291_19295del, NG_012526.1:g.19294_19295del, NG_012526.1:g.19295del, NG_012526.1:g.19295dup, NG_012526.1:g.19294_19295dup, NG_012526.1:g.19293_19295dup

Select item 14910389735.

rs1491038973 has merged into rs61660022 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCC>-,CC,CCC,CCCCCC [Show Flanks]
Chromosome:: X:129497023 (GRCh38)
X:128631000 (GRCh37)
Canonical SPDI:: NC_000023.11:129497021:CCCCC:C,NC_000023.11:129497021:CCCCC:CCC,NC_000023.11:129497021:CCCCC:CCCC,NC_000023.11:129497021:CCCCC:CCCCCCC
Gene:: SMARCA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.14286/5 (1000Genomes)
HGVS:: NC_000023.11:g.129497023_129497026del, NC_000023.11:g.129497025_129497026del, NC_000023.11:g.129497026del, NC_000023.11:g.129497025_129497026dup, NC_000023.10:g.128631000_128631003del, NC_000023.10:g.128631002_128631003del, NC_000023.10:g.128631003del, NC_000023.10:g.128631002_128631003dup, NG_012526.1:g.31459_31462del, NG_012526.1:g.31461_31462del, NG_012526.1:g.31462del, NG_012526.1:g.31461_31462dup

Select item 14909538716.

rs1490953871 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:129517294 (GRCh38)
X:128651271 (GRCh37)
Canonical SPDI:: NC_000023.11:129517293:A:T
Gene:: SMARCA1 (Varview), LOC124900503 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.129517294A>T, NC_000023.10:g.128651271A>T, NG_012526.1:g.11190T>A

Select item 14909355217.

rs1490935521 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:129495400 (GRCh38)
X:128629377 (GRCh37)
Canonical SPDI:: NC_000023.11:129495399:G:T
Gene:: SMARCA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.129495400G>T, NC_000023.10:g.128629377G>T, NG_012526.1:g.33084C>A

Select item 14908917788.

rs1490891778 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: X:129482080 (GRCh38)
X:128616057 (GRCh37)
Canonical SPDI:: NC_000023.11:129482079:A:C,NC_000023.11:129482079:A:G
Gene:: SMARCA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00002/2 (GnomAD)
HGVS:: NC_000023.11:g.129482080A>C, NC_000023.11:g.129482080A>G, NC_000023.10:g.128616057A>C, NC_000023.10:g.128616057A>G, NG_012526.1:g.46404T>G, NG_012526.1:g.46404T>C

Select item 14908623129.

rs1490862312 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:129453407 (GRCh38)
X:128587384 (GRCh37)
Canonical SPDI:: NC_000023.11:129453406:C:T
Gene:: SMARCA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.129453407C>T, NC_000023.10:g.128587384C>T, NG_012526.1:g.75077G>A

Select item 149084731710.

rs1490847317 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AATT [Show Flanks]
Chromosome:: X:129456257 (GRCh38)
X:128590235 (GRCh37)
Canonical SPDI:: NC_000023.11:129456257:TT:TTAATT
Gene:: SMARCA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTAATT=0./0 (ALFA)
TTAA=0.000023/6 (TOPMED)
TTAA=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.129456259_129456260insAATT, NC_000023.10:g.128590236_128590237insAATT, NG_012526.1:g.72226_72227insTTAA

Select item 149083471711.

rs1490834717 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:129480335 (GRCh38)
X:128614312 (GRCh37)
Canonical SPDI:: NC_000023.11:129480334:G:A
Gene:: SMARCA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.129480335G>A, NC_000023.10:g.128614312G>A, NG_012526.1:g.48149C>T

Select item 149082602712.

rs1490826027 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:129506235 (GRCh38)
X:128640212 (GRCh37)
Canonical SPDI:: NC_000023.11:129506234:G:C
Gene:: SMARCA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.129506235G>C, NC_000023.10:g.128640212G>C, NG_012526.1:g.22249C>G

Select item 149080826513.

rs1490808265 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:129483113 (GRCh38)
X:128617090 (GRCh37)
Canonical SPDI:: NC_000023.11:129483112:G:C
Gene:: SMARCA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.129483113G>C, NC_000023.10:g.128617090G>C, NG_012526.1:g.45371C>G

Select item 149067895114.

rs1490678951 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:129518789 (GRCh38)
X:128652766 (GRCh37)
Canonical SPDI:: NC_000023.11:129518788:C:T
Gene:: SMARCA1 (Varview), LOC124900503 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000039/4 (GnomAD)
HGVS:: NC_000023.11:g.129518789C>T, NC_000023.10:g.128652766C>T, NG_012526.1:g.9695G>A

Select item 149067169615.

rs1490671696 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:129481899 (GRCh38)
X:128615876 (GRCh37)
Canonical SPDI:: NC_000023.11:129481898:T:C
Gene:: SMARCA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00002/2 (GnomAD)
HGVS:: NC_000023.11:g.129481899T>C, NC_000023.10:g.128615876T>C, NG_012526.1:g.46585A>G

Select item 149065232516.

rs1490652325 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:129470723 (GRCh38)
X:128604700 (GRCh37)
Canonical SPDI:: NC_000023.11:129470722:G:C
Gene:: SMARCA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000142/2 (ALFA)
C=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.129470723G>C, NC_000023.10:g.128604700G>C, NG_012526.1:g.57761C>G

Select item 149064571417.

rs1490645714 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:129484762 (GRCh38)
X:128618739 (GRCh37)
Canonical SPDI:: NC_000023.11:129484761:T:C
Gene:: SMARCA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.129484762T>C, NC_000023.10:g.128618739T>C, NG_012526.1:g.43722A>G

Select item 149062733818.

rs1490627338 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:129472374 (GRCh38)
X:128606351 (GRCh37)
Canonical SPDI:: NC_000023.11:129472373:G:T
Gene:: SMARCA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.129472374G>T, NC_000023.10:g.128606351G>T, NG_012526.1:g.56110C>A

Select item 149059504719.

rs1490595047 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:129527347 (GRCh38)
X:128661324 (GRCh37)
Canonical SPDI:: NC_000023.11:129527346:A:G
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.129527347A>G, NC_000023.10:g.128661324A>G, NG_012526.1:g.1137T>C

Select item 149051314820.

rs1490513148 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:129483276 (GRCh38)
X:128617253 (GRCh37)
Canonical SPDI:: NC_000023.11:129483275:A:G
Gene:: SMARCA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.129483276A>G, NC_000023.10:g.128617253A>G, NG_012526.1:g.45208T>C

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