SNP Links for Nucleotide (Select 300193023) - SNP

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Select item 14915423591.

rs1491542359 has merged into rs59256885 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,AAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:73581751 (GRCh38)
7:72996081 (GRCh37)
Canonical SPDI:: NC_000007.14:73581742:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000007.14:73581742:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:73581742:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:73581742:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:73581742:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:73581742:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:73581742:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:73581742:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:73581742:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:73581742:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:73581742:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:73581742:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:73581742:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:73581742:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:73581742:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:73581742:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:73581742:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:73581742:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:73581742:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:73581742:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:73581742:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:73581742:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:73581742:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:73581742:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:73581742:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000007.14:g.73581751_73581767del, NC_000007.14:g.73581754_73581767del, NC_000007.14:g.73581757_73581767del, NC_000007.14:g.73581758_73581767del, NC_000007.14:g.73581759_73581767del, NC_000007.14:g.73581760_73581767del, NC_000007.14:g.73581761_73581767del, NC_000007.14:g.73581762_73581767del, NC_000007.14:g.73581763_73581767del, NC_000007.14:g.73581764_73581767del, NC_000007.14:g.73581765_73581767del, NC_000007.14:g.73581766_73581767del, NC_000007.14:g.73581767del, NC_000007.14:g.73581767dup, NC_000007.14:g.73581766_73581767dup, NC_000007.14:g.73581765_73581767dup, NC_000007.14:g.73581764_73581767dup, NC_000007.14:g.73581763_73581767dup, NC_000007.14:g.73581762_73581767dup, NC_000007.14:g.73581761_73581767dup, NC_000007.14:g.73581760_73581767dup, NC_000007.14:g.73581758_73581767dup, NC_000007.14:g.73581757_73581767dup, NC_000007.14:g.73581755_73581767dup, NC_000007.14:g.73581767_73581768insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.72996081_72996097del, NC_000007.13:g.72996084_72996097del, NC_000007.13:g.72996087_72996097del, NC_000007.13:g.72996088_72996097del, NC_000007.13:g.72996089_72996097del, NC_000007.13:g.72996090_72996097del, NC_000007.13:g.72996091_72996097del, NC_000007.13:g.72996092_72996097del, NC_000007.13:g.72996093_72996097del, NC_000007.13:g.72996094_72996097del, NC_000007.13:g.72996095_72996097del, NC_000007.13:g.72996096_72996097del, NC_000007.13:g.72996097del, NC_000007.13:g.72996097dup, NC_000007.13:g.72996096_72996097dup, NC_000007.13:g.72996095_72996097dup, NC_000007.13:g.72996094_72996097dup, NC_000007.13:g.72996093_72996097dup, NC_000007.13:g.72996092_72996097dup, NC_000007.13:g.72996091_72996097dup, NC_000007.13:g.72996090_72996097dup, NC_000007.13:g.72996088_72996097dup, NC_000007.13:g.72996087_72996097dup, NC_000007.13:g.72996085_72996097dup, NC_000007.13:g.72996097_72996098insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_023281.1:g.1925_1941del, NG_023281.1:g.1928_1941del, NG_023281.1:g.1931_1941del, NG_023281.1:g.1932_1941del, NG_023281.1:g.1933_1941del, NG_023281.1:g.1934_1941del, NG_023281.1:g.1935_1941del, NG_023281.1:g.1936_1941del, NG_023281.1:g.1937_1941del, NG_023281.1:g.1938_1941del, NG_023281.1:g.1939_1941del, NG_023281.1:g.1940_1941del, NG_023281.1:g.1941del, NG_023281.1:g.1941dup, NG_023281.1:g.1940_1941dup, NG_023281.1:g.1939_1941dup, NG_023281.1:g.1938_1941dup, NG_023281.1:g.1937_1941dup, NG_023281.1:g.1936_1941dup, NG_023281.1:g.1935_1941dup, NG_023281.1:g.1934_1941dup, NG_023281.1:g.1932_1941dup, NG_023281.1:g.1931_1941dup, NG_023281.1:g.1929_1941dup, NG_023281.1:g.1941_1942insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_003871064.1:g.1110987_1111003del, NW_003871064.1:g.1110990_1111003del, NW_003871064.1:g.1110993_1111003del, NW_003871064.1:g.1110994_1111003del, NW_003871064.1:g.1110995_1111003del, NW_003871064.1:g.1110996_1111003del, NW_003871064.1:g.1110997_1111003del, NW_003871064.1:g.1110998_1111003del, NW_003871064.1:g.1110999_1111003del, NW_003871064.1:g.1111000_1111003del, NW_003871064.1:g.1111001_1111003del, NW_003871064.1:g.1111002_1111003del, NW_003871064.1:g.1111003del, NW_003871064.1:g.1111003dup, NW_003871064.1:g.1111002_1111003dup, NW_003871064.1:g.1111001_1111003dup, NW_003871064.1:g.1111000_1111003dup, NW_003871064.1:g.1110999_1111003dup, NW_003871064.1:g.1110998_1111003dup, NW_003871064.1:g.1110997_1111003dup, NW_003871064.1:g.1110996_1111003dup, NW_003871064.1:g.1110994_1111003dup, NW_003871064.1:g.1110993_1111003dup, NW_003871064.1:g.1110991_1111003dup, NW_003871064.1:g.1111003_1111004insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14914334392.

rs1491433439 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:73581742 (GRCh38)
7:72996072 (GRCh37)
Canonical SPDI:: NC_000007.14:73581741:CA:
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000007.14:g.73581742_73581743del, NC_000007.13:g.72996072_72996073del, NG_023281.1:g.1941_1942del, NW_003871064.1:g.1110978_1110979del

Select item 14908639483.

rs1490863948 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:73569257 (GRCh38)
7:72983587 (GRCh37)
Canonical SPDI:: NC_000007.14:73569256:G:A
Gene:: TBL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.73569257G>A, NC_000007.13:g.72983587G>A, NG_023281.1:g.14427C>T, NM_012453.4:c.*1250C>T, NM_012453.3:c.*1250C>T, NM_012453.2:c.*1250C>T, NM_001362660.2:c.*1250C>T, NM_001362660.1:c.*1250C>T, NM_001362662.2:c.*1250C>T, NM_001362662.1:c.*1250C>T, NM_001362663.2:c.*1250C>T, NM_001362663.1:c.*1250C>T, NM_001362661.2:c.*1250C>T, NM_001362661.1:c.*1250C>T, NW_003871064.1:g.1098493G>A, XM_006715923.5:c.*1250C>T, XM_006715923.4:c.*1250C>T, XM_006715923.2:c.*1250C>T, XM_006715923.1:c.*1250C>T, XM_024446709.2:c.*1250C>T, XM_024446709.1:c.*1250C>T, XM_047420185.1:c.*1250C>T, XM_047420187.1:c.*1250C>T, XM_047420188.1:c.*1250C>T, XM_047420186.1:c.*1250C>T

Select item 14905890104.

rs1490589010 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:73577191 (GRCh38)
7:72991521 (GRCh37)
Canonical SPDI:: NC_000007.14:73577190:C:T
Gene:: TBL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
T=0.000045/12 (TOPMED)
T=0.000054/7 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000007.14:g.73577191C>T, NC_000007.13:g.72991521C>T, NG_023281.1:g.6493G>A, NW_003871064.1:g.1106427C>T

Select item 14905232705.

rs1490523270 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:73578057 (GRCh38)
7:72992387 (GRCh37)
Canonical SPDI:: NC_000007.14:73578056:T:C
Gene:: TBL2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
HGVS:: NC_000007.14:g.73578057T>C, NC_000007.13:g.72992387T>C, NG_023281.1:g.5627A>G, NW_003871064.1:g.1107293T>C, XM_006715923.5:c.-215A>G, XM_006715923.4:c.-215A>G, XM_006715923.3:c.-215A>G, XM_006715923.2:c.-215A>G, XM_006715923.1:c.-215A>G, XM_047420187.1:c.-240A>G

Select item 14898197216.

rs1489819721 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:73571427 (GRCh38)
7:72985757 (GRCh37)
Canonical SPDI:: NC_000007.14:73571426:T:C
Gene:: TBL2 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
C=0.000779/13 (TOMMO)
HGVS:: NC_000007.14:g.73571427T>C, NC_000007.13:g.72985757T>C, NG_023281.1:g.12257A>G, NW_003871064.1:g.1100663T>C

Select item 14896576157.

rs1489657615 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:73579270 (GRCh38)
7:72993600 (GRCh37)
Canonical SPDI:: NC_000007.14:73579269:G:C
Gene:: TBL2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000042/11 (TOPMED)
C=0.000057/8 (GnomAD)
HGVS:: NC_000007.14:g.73579270G>C, NC_000007.13:g.72993600G>C, NG_023281.1:g.4414C>G, NW_003871064.1:g.1108506G>C

Select item 14895298208.

rs1489529820 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:73581995 (GRCh38)
7:72996325 (GRCh37)
Canonical SPDI:: NC_000007.14:73581994:C:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.73581995C>G, NC_000007.13:g.72996325C>G, NG_023281.1:g.1689G>C, NW_003871064.1:g.1111231C>G

Select item 14895051829.

rs1489505182 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 7:73568273 (GRCh38)
7:72982603 (GRCh37)
Canonical SPDI:: NC_000007.14:73568269:CTCTC:CTC
Gene:: TBL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.73568271TC[1], NC_000007.13:g.72982601TC[1], NG_023281.1:g.15411AG[1], NM_012453.4:c.*2234AG[1], NM_001362660.2:c.*2234AG[1], NM_001362662.2:c.*2234AG[1], NM_001362663.2:c.*2234AG[1], NM_001362661.2:c.*2234AG[1], NW_003871064.1:g.1097507TC[1], XM_006715923.5:c.*2234AG[1], XM_024446709.2:c.*2234AG[1], XM_047420185.1:c.*2234AG[1], XM_047420187.1:c.*2234AG[1], XM_047420188.1:c.*2234AG[1], XM_047420186.1:c.*2234AG[1]

Select item 148937696710.

rs1489376967 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:73571451 (GRCh38)
7:72985781 (GRCh37)
Canonical SPDI:: NC_000007.14:73571450:T:C
Gene:: TBL2 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.73571451T>C, NC_000007.13:g.72985781T>C, NG_023281.1:g.12233A>G, NW_003871064.1:g.1100687T>C

Select item 148931504411.

rs1489315044 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 7:73579731 (GRCh38)
7:72994061 (GRCh37)
Canonical SPDI:: NC_000007.14:73579730:G:A,NC_000007.14:73579730:G:C,NC_000007.14:73579730:G:T
Gene:: TBL2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000007.14:g.73579731G>A, NC_000007.14:g.73579731G>C, NC_000007.14:g.73579731G>T, NC_000007.13:g.72994061G>A, NC_000007.13:g.72994061G>C, NC_000007.13:g.72994061G>T, NG_023281.1:g.3953C>T, NG_023281.1:g.3953C>G, NG_023281.1:g.3953C>A, NW_003871064.1:g.1108967G>A, NW_003871064.1:g.1108967G>C, NW_003871064.1:g.1108967G>T

Select item 148928482612.

rs1489284826 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:73578808 (GRCh38)
7:72993138 (GRCh37)
Canonical SPDI:: NC_000007.14:73578807:C:G,NC_000007.14:73578807:C:T
Gene:: TBL2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
G=0./0 (Korea1K)
T=0.000057/15 (TOPMED)
T=0.000878/11 (GnomAD)
HGVS:: NC_000007.14:g.73578808C>G, NC_000007.14:g.73578808C>T, NC_000007.13:g.72993138C>G, NC_000007.13:g.72993138C>T, NG_023281.1:g.4876G>C, NG_023281.1:g.4876G>A, NW_003871064.1:g.1108044C>G, NW_003871064.1:g.1108044C>T

Select item 148910710413.

rs1489107104 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:73575323 (GRCh38)
7:72989653 (GRCh37)
Canonical SPDI:: NC_000007.14:73575322:C:T
Gene:: TBL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.73575323C>T, NC_000007.13:g.72989653C>T, NG_023281.1:g.8361G>A, NW_003871064.1:g.1104559C>T

Select item 148897353314.

rs1488973533 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:73576265 (GRCh38)
7:72990595 (GRCh37)
Canonical SPDI:: NC_000007.14:73576264:C:T
Gene:: TBL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.73576265C>T, NC_000007.13:g.72990595C>T, NG_023281.1:g.7419G>A, NW_003871064.1:g.1105501C>T

Select item 148886512615.

rs1488865126 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 7:73571831 (GRCh38)
7:72986161 (GRCh37)
Canonical SPDI:: NC_000007.14:73571830:C:A,NC_000007.14:73571830:C:G,NC_000007.14:73571830:C:T
Gene:: TBL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000007.14:g.73571831C>A, NC_000007.14:g.73571831C>G, NC_000007.14:g.73571831C>T, NC_000007.13:g.72986161C>A, NC_000007.13:g.72986161C>G, NC_000007.13:g.72986161C>T, NG_023281.1:g.11853G>T, NG_023281.1:g.11853G>C, NG_023281.1:g.11853G>A, NW_003871064.1:g.1101067C>A, NW_003871064.1:g.1101067C>G, NW_003871064.1:g.1101067C>T, XM_047420189.1:c.*117G>T, XM_047420189.1:c.*117G>C, XM_047420189.1:c.*117G>A

Select item 148885816616.

rs1488858166 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:73578889 (GRCh38)
7:72993219 (GRCh37)
Canonical SPDI:: NC_000007.14:73578888:G:C
Gene:: TBL2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00008/1 (ALFA)
C=0.00002/1 (GnomAD)
HGVS:: NC_000007.14:g.73578889G>C, NC_000007.13:g.72993219G>C, NG_023281.1:g.4795C>G, NW_003871064.1:g.1108125G>C

Select item 148830526817.

rs1488305268 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:73579115 (GRCh38)
7:72993445 (GRCh37)
Canonical SPDI:: NC_000007.14:73579114:C:A,NC_000007.14:73579114:C:T
Gene:: TBL2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.73579115C>A, NC_000007.14:g.73579115C>T, NC_000007.13:g.72993445C>A, NC_000007.13:g.72993445C>T, NG_023281.1:g.4569G>T, NG_023281.1:g.4569G>A, NW_003871064.1:g.1108351C>A, NW_003871064.1:g.1108351C>T

Select item 148797527018.

rs1487975270 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:73577457 (GRCh38)
7:72991787 (GRCh37)
Canonical SPDI:: NC_000007.14:73577456:C:G,NC_000007.14:73577456:C:T
Gene:: TBL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.73577457C>G, NC_000007.14:g.73577457C>T, NC_000007.13:g.72991787C>G, NC_000007.13:g.72991787C>T, NG_023281.1:g.6227G>C, NG_023281.1:g.6227G>A, NW_003871064.1:g.1106693C>G, NW_003871064.1:g.1106693C>T

Select item 148786348319.

rs1487863483 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:73573215 (GRCh38)
7:72987545 (GRCh37)
Canonical SPDI:: NC_000007.14:73573214:T:C
Gene:: TBL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000007.14:g.73573215T>C, NC_000007.13:g.72987545T>C, NG_023281.1:g.10469A>G, NW_003871064.1:g.1102451T>C

Select item 148757895720.

rs1487578957 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:73570340 (GRCh38)
7:72984670 (GRCh37)
Canonical SPDI:: NC_000007.14:73570339:G:C
Gene:: TBL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.73570340G>C, NC_000007.13:g.72984670G>C, NG_023281.1:g.13344C>G, NM_012453.4:c.*167C>G, NM_012453.3:c.*167C>G, NM_012453.2:c.*167C>G, NM_001362660.2:c.*167C>G, NM_001362660.1:c.*167C>G, NM_001362662.2:c.*167C>G, NM_001362662.1:c.*167C>G, NM_001362663.2:c.*167C>G, NM_001362663.1:c.*167C>G, NM_001362661.2:c.*167C>G, NM_001362661.1:c.*167C>G, NW_003871064.1:g.1099576G>C, XM_006715923.5:c.*167C>G, XM_006715923.4:c.*167C>G, XM_006715923.3:c.*167C>G, XM_006715923.2:c.*167C>G, XM_006715923.1:c.*167C>G, XM_024446709.2:c.*167C>G, XM_024446709.1:c.*167C>G, XM_047420185.1:c.*167C>G, XM_047420187.1:c.*167C>G, XM_047420188.1:c.*167C>G, XM_047420186.1:c.*167C>G, NM_032988.1:c.*1444C>G

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