SNP Links for Gene (Select 8092) - SNP

Links from Gene

Items: 1 to 20 of 5438

<< First< Prev

Page of 272

Next >Last >>

Select item 14915257901.

rs1491525790 has merged into rs969516699 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA,TATATA [Show Flanks]
Chromosome:: 12:85282258 (GRCh38)
12:85676036 (GRCh37)
Canonical SPDI:: NC_000012.12:85282245:TATATATATATATA:TATATATATATA,NC_000012.12:85282245:TATATATATATATA:TATATATATATATATA,NC_000012.12:85282245:TATATATATATATA:TATATATATATATATATA
Gene:: ALX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATATA=0./0 (ALFA)
-=0.00155/26 (TOMMO)
-=0.00333/2 (NorthernSweden)
-=0.00379/17 (Estonian)
-=0.00382/7 (Korea1K)
HGVS:: NC_000012.12:g.85282246TA[6], NC_000012.12:g.85282246TA[8], NC_000012.12:g.85282246TA[9], NC_000012.11:g.85676024TA[6], NC_000012.11:g.85676024TA[8], NC_000012.11:g.85676024TA[9], NG_023202.1:g.6989TA[6], NG_023202.1:g.6989TA[8], NG_023202.1:g.6989TA[9]

Select item 14915166772.

rs1491516677 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 12:85284220 (GRCh38)
12:85677999 (GRCh37)
Canonical SPDI:: NC_000012.12:85284220:G:GG
Gene:: ALX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.00001/1 (GnomAD)
HGVS:: NC_000012.12:g.85284221dup, NC_000012.11:g.85677999dup, NG_023202.1:g.8964dup

Select item 14914059853.

rs1491405985 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:85284353 (GRCh38)
12:85678131 (GRCh37)
Canonical SPDI:: NC_000012.12:85284351:ACA:A
Gene:: ALX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.85284353_85284354del, NC_000012.11:g.85678131_85678132del, NG_023202.1:g.9096_9097del

Select item 14911410884.

rs1491141088 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 12:85284352 (GRCh38)
12:85678131 (GRCh37)
Canonical SPDI:: NC_000012.12:85284352::G
Gene:: ALX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000084/1 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.85284352_85284353insG, NC_000012.11:g.85678130_85678131insG, NG_023202.1:g.9095_9096insG

Select item 14910644405.

rs1491064440 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 12:85293279 (GRCh38)
12:85687057 (GRCh37)
Canonical SPDI:: NC_000012.12:85293278:AA:
Gene:: ALX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000022/3 (GnomAD)
-=0.000212/4 (TOMMO)
-=0.0011/2 (Korea1K)
-=0.001667/1 (NorthernSweden)
HGVS:: NC_000012.12:g.85293279_85293280del, NC_000012.11:g.85687057_85687058del, NG_023202.1:g.18022_18023del

Select item 14908770936.

rs1490877093 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:85296352 (GRCh38)
12:85690130 (GRCh37)
Canonical SPDI:: NC_000012.12:85296351:T:C
Gene:: ALX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.85296352T>C, NC_000012.11:g.85690130T>C, NG_023202.1:g.21095T>C

Select item 14907778987.

rs1490777898 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:85290502 (GRCh38)
12:85684280 (GRCh37)
Canonical SPDI:: NC_000012.12:85290501:C:A
Gene:: ALX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.85290502C>A, NC_000012.11:g.85684280C>A, NG_023202.1:g.15245C>A

Select item 14907739338.

rs1490773933 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 12:85294078 (GRCh38)
12:85687856 (GRCh37)
Canonical SPDI:: NC_000012.12:85294077:AA:A
Gene:: ALX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.85294079del, NC_000012.11:g.85687857del, NG_023202.1:g.18822del

Select item 14905723639.

rs1490572363 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:85282356 (GRCh38)
12:85676134 (GRCh37)
Canonical SPDI:: NC_000012.12:85282355:C:T
Gene:: ALX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.85282356C>T, NC_000012.11:g.85676134C>T, NG_023202.1:g.7099C>T

Select item 149051848510.

rs1490518485 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:85298794 (GRCh38)
12:85692572 (GRCh37)
Canonical SPDI:: NC_000012.12:85298793:A:G
Gene:: ALX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.85298794A>G, NC_000012.11:g.85692572A>G, NG_023202.1:g.23537A>G

Select item 149037975511.

rs1490379755 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:85289932 (GRCh38)
12:85683710 (GRCh37)
Canonical SPDI:: NC_000012.12:85289931:C:T
Gene:: ALX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.85289932C>T, NC_000012.11:g.85683710C>T, NG_023202.1:g.14675C>T

Select item 149013848412.

rs1490138484 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:85281828 (GRCh38)
12:85675606 (GRCh37)
Canonical SPDI:: NC_000012.12:85281827:C:T
Gene:: ALX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
T=0.000248/4 (TOMMO)
HGVS:: NC_000012.12:g.85281828C>T, NC_000012.11:g.85675606C>T, NG_023202.1:g.6571C>T

Select item 149009573413.

rs1490095734 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:85298190 (GRCh38)
12:85691968 (GRCh37)
Canonical SPDI:: NC_000012.12:85298189:G:A
Gene:: ALX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.85298190G>A, NC_000012.11:g.85691968G>A, NG_023202.1:g.22933G>A

Select item 149007588614.

rs1490075886 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:85282861 (GRCh38)
12:85676639 (GRCh37)
Canonical SPDI:: NC_000012.12:85282860:T:G
Gene:: ALX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.85282861T>G, NC_000012.11:g.85676639T>G, NG_023202.1:g.7604T>G

Select item 149002902515.

rs1490029025 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:85299301 (GRCh38)
12:85693079 (GRCh37)
Canonical SPDI:: NC_000012.12:85299300:T:C
Gene:: ALX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.85299301T>C, NC_000012.11:g.85693079T>C, NG_023202.1:g.24044T>C

Select item 148979849816.

rs1489798498 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:85291638 (GRCh38)
12:85685416 (GRCh37)
Canonical SPDI:: NC_000012.12:85291637:A:G
Gene:: ALX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.85291638A>G, NC_000012.11:g.85685416A>G, NG_023202.1:g.16381A>G

Select item 148965947017.

rs1489659470 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:85283288 (GRCh38)
12:85677066 (GRCh37)
Canonical SPDI:: NC_000012.12:85283287:G:A
Gene:: ALX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.0003/1 (KOREAN)
A=0.0005/1 (Korea1K)
HGVS:: NC_000012.12:g.85283288G>A, NC_000012.11:g.85677066G>A, NG_023202.1:g.8031G>A

Select item 148949210918.

rs1489492109 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:85288304 (GRCh38)
12:85682082 (GRCh37)
Canonical SPDI:: NC_000012.12:85288303:G:T
Gene:: ALX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.85288304G>T, NC_000012.11:g.85682082G>T, NG_023202.1:g.13047G>T

Select item 148936533419.

rs1489365334 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:85291777 (GRCh38)
12:85685555 (GRCh37)
Canonical SPDI:: NC_000012.12:85291776:A:G
Gene:: ALX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.85291777A>G, NC_000012.11:g.85685555A>G, NG_023202.1:g.16520A>G

Select item 148935342420.

rs1489353424 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 12:85301210 (GRCh38)
12:85694989 (GRCh37)
Canonical SPDI:: NC_000012.12:85301210::T
Gene:: ALX1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.85301210_85301211insT, NC_000012.11:g.85694988_85694989insT, NG_023202.1:g.25953_25954insT, NM_006982.3:c.716_717insT, NM_006982.2:c.716_717insT, NP_008913.2:p.Met240fs

<< First< Prev

Page of 272

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 5438

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity