SNP Links for Nucleotide (Select 223468685) - SNP

Links from Nucleotide

Items: 1 to 20 of 6335

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Select item 14912433661.

rs1491243366 has merged into rs10586954 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA [Show Flanks]
Chromosome:: X:101384618 (GRCh38)
X:100639606 (GRCh37)
Canonical SPDI:: NC_000023.11:101384605:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:101384605:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:101384605:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:101384605:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:101384605:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:101384605:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: BTK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.307/1159 (1000Genomes)
HGVS:: NC_000023.11:g.101384618_101384623del, NC_000023.11:g.101384620_101384623del, NC_000023.11:g.101384621_101384623del, NC_000023.11:g.101384622_101384623del, NC_000023.11:g.101384623del, NC_000023.11:g.101384623dup, NC_000023.10:g.100639606_100639611del, NC_000023.10:g.100639608_100639611del, NC_000023.10:g.100639609_100639611del, NC_000023.10:g.100639610_100639611del, NC_000023.10:g.100639611del, NC_000023.10:g.100639611dup, NG_009616.1:g.6614_6619del, NG_009616.1:g.6616_6619del, NG_009616.1:g.6617_6619del, NG_009616.1:g.6618_6619del, NG_009616.1:g.6619del, NG_009616.1:g.6619dup, NW_004070883.1:g.66294_66299del, NW_004070883.1:g.66296_66299del, NW_004070883.1:g.66297_66299del, NW_004070883.1:g.66298_66299del, NW_004070883.1:g.66299del, NW_004070883.1:g.66299dup

Select item 14912015002.

rs1491201500 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: X:101384605 (GRCh38)
X:100639593 (GRCh37)
Canonical SPDI:: NC_000023.11:101384604:CA:
Gene:: BTK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00084/10 (ALFA)
HGVS:: NC_000023.11:g.101384605_101384606del, NC_000023.10:g.100639593_100639594del, NG_009616.1:g.6619_6620del, NW_004070883.1:g.66281_66282del

Select item 14910208213.

rs1491020821 has merged into rs35710840 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: X:101352178 (GRCh38)
X:100607166 (GRCh37)
Canonical SPDI:: NC_000023.11:101352162:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:101352162:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:101352162:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:101352162:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:101352162:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:101352162:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:101352162:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:101352162:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:101352162:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: BTK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000023.11:g.101352178_101352181del, NC_000023.11:g.101352179_101352181del, NC_000023.11:g.101352180_101352181del, NC_000023.11:g.101352181del, NC_000023.11:g.101352181dup, NC_000023.11:g.101352180_101352181dup, NC_000023.11:g.101352179_101352181dup, NC_000023.11:g.101352178_101352181dup, NC_000023.11:g.101352177_101352181dup, NC_000023.10:g.100607166_100607169del, NC_000023.10:g.100607167_100607169del, NC_000023.10:g.100607168_100607169del, NC_000023.10:g.100607169del, NC_000023.10:g.100607169dup, NC_000023.10:g.100607168_100607169dup, NC_000023.10:g.100607167_100607169dup, NC_000023.10:g.100607166_100607169dup, NC_000023.10:g.100607165_100607169dup, NG_009616.1:g.39059_39062del, NG_009616.1:g.39060_39062del, NG_009616.1:g.39061_39062del, NG_009616.1:g.39062del, NG_009616.1:g.39062dup, NG_009616.1:g.39061_39062dup, NG_009616.1:g.39060_39062dup, NG_009616.1:g.39059_39062dup, NG_009616.1:g.39058_39062dup, NG_011734.1:g.1804_1807del, NG_011734.1:g.1805_1807del, NG_011734.1:g.1806_1807del, NG_011734.1:g.1807del, NG_011734.1:g.1807dup, NG_011734.1:g.1806_1807dup, NG_011734.1:g.1805_1807dup, NG_011734.1:g.1804_1807dup, NG_011734.1:g.1803_1807dup, NW_004070883.1:g.33854_33857del, NW_004070883.1:g.33855_33857del, NW_004070883.1:g.33856_33857del, NW_004070883.1:g.33857del, NW_004070883.1:g.33857dup, NW_004070883.1:g.33856_33857dup, NW_004070883.1:g.33855_33857dup, NW_004070883.1:g.33854_33857dup, NW_004070883.1:g.33853_33857dup

Select item 14909059954.

rs1490905995 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:101358903 (GRCh38)
X:100613891 (GRCh37)
Canonical SPDI:: NC_000023.11:101358902:C:A,NC_000023.11:101358902:C:T
Gene:: BTK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000008/2 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.101358903C>A, NC_000023.11:g.101358903C>T, NC_000023.10:g.100613891C>A, NC_000023.10:g.100613891C>T, NG_009616.1:g.32322G>T, NG_009616.1:g.32322G>A, NW_004070883.1:g.40579C>A, NW_004070883.1:g.40579C>T

Select item 14908595855.

rs1490859585 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:101360440 (GRCh38)
X:100615428 (GRCh37)
Canonical SPDI:: NC_000023.11:101360439:C:G
Gene:: BTK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.101360440C>G, NC_000023.10:g.100615428C>G, NG_009616.1:g.30785G>C, NW_004070883.1:g.42116C>G

Select item 14907379896.

rs1490737989 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:101371211 (GRCh38)
X:100626199 (GRCh37)
Canonical SPDI:: NC_000023.11:101371210:G:A
Gene:: BTK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.101371211G>A, NC_000023.10:g.100626199G>A, NG_009616.1:g.20014C>T, NW_004070883.1:g.52887G>A

Select item 14906025187.

rs1490602518 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:101348348 (GRCh38)
X:100603336 (GRCh37)
Canonical SPDI:: NC_000023.11:101348347:C:T
Gene:: TIMM8A (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.101348348C>T, NC_000023.10:g.100603336C>T, NG_009616.1:g.42877G>A, NG_011734.1:g.5622G>A, NM_001145951.2:c.*39G>A, NM_001145951.1:c.*39G>A, NW_004070883.1:g.30024C>T

Select item 14905730018.

rs1490573001 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:101371905 (GRCh38)
X:100626893 (GRCh37)
Canonical SPDI:: NC_000023.11:101371904:T:C
Gene:: BTK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.101371905T>C, NC_000023.10:g.100626893T>C, NG_009616.1:g.19320A>G, NW_004070883.1:g.53581T>C

Select item 14904509489.

rs1490450948 has merged into rs201230956 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: X:101382055 (GRCh38)
X:100637043 (GRCh37)
Canonical SPDI:: NC_000023.11:101382054:AAAAAAAAA:AAAAAAAA,NC_000023.11:101382054:AAAAAAAAA:AAAAAAAAAA
Gene:: BTK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000023.11:g.101382063del, NC_000023.11:g.101382063dup, NC_000023.10:g.100637051del, NC_000023.10:g.100637051dup, NG_009616.1:g.9170del, NG_009616.1:g.9170dup, NW_004070883.1:g.63739del, NW_004070883.1:g.63739dup

Select item 149031680910.

rs1490316809 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:101381479 (GRCh38)
X:100636467 (GRCh37)
Canonical SPDI:: NC_000023.11:101381478:A:G
Gene:: BTK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.101381479A>G, NC_000023.10:g.100636467A>G, NG_009616.1:g.9746T>C, NW_004070883.1:g.63155A>G

Select item 149005700811.

rs1490057008 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:101361098 (GRCh38)
X:100616086 (GRCh37)
Canonical SPDI:: NC_000023.11:101361097:C:T
Gene:: BTK (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.101361098C>T, NC_000023.10:g.100616086C>T, NG_009616.1:g.30127G>A, NW_004070883.1:g.42774C>T

Select item 148985279112.

rs1489852791 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:101348870 (GRCh38)
X:100603858 (GRCh37)
Canonical SPDI:: NC_000023.11:101348869:G:A,NC_000023.11:101348869:G:C
Gene:: TIMM8A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.101348870G>A, NC_000023.11:g.101348870G>C, NC_000023.10:g.100603858G>A, NC_000023.10:g.100603858G>C, NG_009616.1:g.42355C>T, NG_009616.1:g.42355C>G, NG_011734.1:g.5100C>T, NG_011734.1:g.5100C>G, NW_004070883.1:g.30546G>A, NW_004070883.1:g.30546G>C, NM_004085.3:c.-206C>T, NM_004085.3:c.-206C>G

Select item 148974089613.

rs1489740896 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:101373953 (GRCh38)
X:100628941 (GRCh37)
Canonical SPDI:: NC_000023.11:101373952:G:A
Gene:: BTK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.00009/1 (TOMMO)
HGVS:: NC_000023.11:g.101373953G>A, NC_000023.10:g.100628941G>A, NG_009616.1:g.17272C>T, NW_004070883.1:g.55629G>A

Select item 148956658814.

rs1489566588 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:101356692 (GRCh38)
X:100611680 (GRCh37)
Canonical SPDI:: NC_000023.11:101356691:A:G
Gene:: BTK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.101356692A>G, NC_000023.10:g.100611680A>G, NG_009616.1:g.34533T>C, NW_004070883.1:g.38368A>G

Select item 148950076715.

rs1489500767 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:101371770 (GRCh38)
X:100626758 (GRCh37)
Canonical SPDI:: NC_000023.11:101371769:A:G
Gene:: BTK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000023.11:g.101371770A>G, NC_000023.10:g.100626758A>G, NG_009616.1:g.19455T>C, NW_004070883.1:g.53446A>G

Select item 148949969716.

rs1489499697 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:101379376 (GRCh38)
X:100634364 (GRCh37)
Canonical SPDI:: NC_000023.11:101379375:A:G
Gene:: BTK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.101379376A>G, NC_000023.10:g.100634364A>G, NG_009616.1:g.11849T>C, NW_004070883.1:g.61052A>G

Select item 148949251117.

rs1489492511 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:101351040 (GRCh38)
X:100606028 (GRCh37)
Canonical SPDI:: NC_000023.11:101351039:G:A
Gene:: BTK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.101351040G>A, NC_000023.10:g.100606028G>A, NG_009616.1:g.40185C>T, NG_011734.1:g.2930C>T, NW_004070883.1:g.32716G>A

Select item 148938379818.

rs1489383798 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: X:101373181 (GRCh38)
X:100628169 (GRCh37)
Canonical SPDI:: NC_000023.11:101373180:T:C,NC_000023.11:101373180:T:G
Gene:: BTK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.101373181T>C, NC_000023.11:g.101373181T>G, NC_000023.10:g.100628169T>C, NC_000023.10:g.100628169T>G, NG_009616.1:g.18044A>G, NG_009616.1:g.18044A>C, NW_004070883.1:g.54857T>C, NW_004070883.1:g.54857T>G

Select item 148936854219.

rs1489368542 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:101388639 (GRCh38)
X:100643627 (GRCh37)
Canonical SPDI:: NC_000023.11:101388638:C:T
Gene:: BTK (Varview)
Functional Consequence:: intron_variant,genic_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.101388639C>T, NC_000023.10:g.100643627C>T, NG_009616.1:g.2586G>A, NG_012523.1:g.2680C>T, NW_004070883.1:g.70315C>T

Select item 148924107220.

rs1489241072 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:101390282 (GRCh38)
X:100645270 (GRCh37)
Canonical SPDI:: NC_000023.11:101390281:G:A
Gene:: BTK (Varview), RPL36A (Varview), RPL36A-HNRNPH2 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.101390282G>A, NC_000023.10:g.100645270G>A, NG_009616.1:g.943C>T, NG_012523.1:g.4323G>A, NW_004070883.1:g.71958G>A

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