SNP Links for Gene (Select 389827) - SNP

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Select item 14914417021.

rs1491441702 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGAG [Show Flanks]
Chromosome:: 9:133523681 (GRCh38)
9:136388804 (GRCh37)
Canonical SPDI:: NC_000009.12:133523681:GGAG:GGAGGGAG
Gene:: MYMK (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000009.12:g.133523682_133523685dup, NC_000009.11:g.136388804_136388807dup

Select item 14914359802.

rs1491435980 has merged into rs140245731 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 9:133517678 (GRCh38)
9:136382800 (GRCh37)
Canonical SPDI:: NC_000009.12:133517666:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:133517666:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:133517666:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:133517666:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:133517666:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:133517666:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:133517666:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:133517666:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:133517666:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:133517666:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: MYMK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.0885/443 (1000Genomes)
HGVS:: NC_000009.12:g.133517678_133517684del, NC_000009.12:g.133517679_133517684del, NC_000009.12:g.133517680_133517684del, NC_000009.12:g.133517681_133517684del, NC_000009.12:g.133517682_133517684del, NC_000009.12:g.133517683_133517684del, NC_000009.12:g.133517684del, NC_000009.12:g.133517684dup, NC_000009.12:g.133517683_133517684dup, NC_000009.12:g.133517682_133517684dup, NC_000009.11:g.136382800_136382806del, NC_000009.11:g.136382801_136382806del, NC_000009.11:g.136382802_136382806del, NC_000009.11:g.136382803_136382806del, NC_000009.11:g.136382804_136382806del, NC_000009.11:g.136382805_136382806del, NC_000009.11:g.136382806del, NC_000009.11:g.136382806dup, NC_000009.11:g.136382805_136382806dup, NC_000009.11:g.136382804_136382806dup

Select item 14913210863.

rs1491321086 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 9:133523681 (GRCh38)
9:136388803 (GRCh37)
Canonical SPDI:: NC_000009.12:133523680:TG:
Gene:: MYMK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000084/1 (ALFA)
-=0.000618/66 (GnomAD)
-=0.001249/8 (1000Genomes)
HGVS:: NC_000009.12:g.133523681_133523682del, NC_000009.11:g.136388803_136388804del

Select item 14910901824.

rs1491090182 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:133517666 (GRCh38)
9:136382788 (GRCh37)
Canonical SPDI:: NC_000009.12:133517665:CA:
Gene:: MYMK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00244/29 (ALFA)
-=0.00056/38 (GnomAD)
HGVS:: NC_000009.12:g.133517666_133517667del, NC_000009.11:g.136382788_136382789del

Select item 14907602965.

rs1490760296 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:133517481 (GRCh38)
9:136382603 (GRCh37)
Canonical SPDI:: NC_000009.12:133517480:C:T
Gene:: MYMK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000038/10 (TOPMED)
HGVS:: NC_000009.12:g.133517481C>T, NC_000009.11:g.136382603C>T

Select item 14906349566.

rs1490634956 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:133526448 (GRCh38)
9:136391570 (GRCh37)
Canonical SPDI:: NC_000009.12:133526447:G:C
Gene:: MYMK (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.133526448G>C, NC_000009.11:g.136391570G>C

Select item 14906104657.

rs1490610465 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:133524202 (GRCh38)
9:136389324 (GRCh37)
Canonical SPDI:: NC_000009.12:133524201:C:T
Gene:: MYMK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000009.12:g.133524202C>T, NC_000009.11:g.136389324C>T

Select item 14905028958.

rs1490502895 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:133525545 (GRCh38)
9:136390667 (GRCh37)
Canonical SPDI:: NC_000009.12:133525544:A:C
Gene:: MYMK (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.133525545A>C, NC_000009.11:g.136390667A>C

Select item 14902949369.

rs1490294936 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 9:133518690 (GRCh38)
9:136383813 (GRCh37)
Canonical SPDI:: NC_000009.12:133518690:A:AA
Gene:: MYMK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.133518691dup, NC_000009.11:g.136383813dup

Select item 149022815610.

rs1490228156 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 9:133524480 (GRCh38)
9:136389602 (GRCh37)
Canonical SPDI:: NC_000009.12:133524479:C:
Gene:: MYMK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.133524480del, NC_000009.11:g.136389602del

Select item 149001299911.

rs1490012999 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:133526030 (GRCh38)
9:136391152 (GRCh37)
Canonical SPDI:: NC_000009.12:133526029:T:A
Gene:: MYMK (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
HGVS:: NC_000009.12:g.133526030T>A, NC_000009.11:g.136391152T>A

Select item 148987942512.

rs1489879425 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:133525203 (GRCh38)
9:136390325 (GRCh37)
Canonical SPDI:: NC_000009.12:133525202:C:A,NC_000009.12:133525202:C:T
Gene:: MYMK (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.133525203C>A, NC_000009.12:g.133525203C>T, NC_000009.11:g.136390325C>A, NC_000009.11:g.136390325C>T

Select item 148934448813.

rs1489344488 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:133515344 (GRCh38)
9:136380466 (GRCh37)
Canonical SPDI:: NC_000009.12:133515343:G:A
Gene:: MYMK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.133515344G>A, NC_000009.11:g.136380466G>A

Select item 148919864114.

rs1489198641 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:133516651 (GRCh38)
9:136381773 (GRCh37)
Canonical SPDI:: NC_000009.12:133516650:A:G
Gene:: MYMK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000009.12:g.133516651A>G, NC_000009.11:g.136381773A>G

Select item 148911249715.

rs1489112497 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:133522249 (GRCh38)
9:136387371 (GRCh37)
Canonical SPDI:: NC_000009.12:133522248:G:A
Gene:: MYMK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.133522249G>A, NC_000009.11:g.136387371G>A

Select item 148891313516.

rs1488913135 has merged into rs1375796980 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCC [Show Flanks]
Chromosome:: 9:133519082 (GRCh38)
9:136384204 (GRCh37)
Canonical SPDI:: NC_000009.12:133519081:CCCCCCC:CCCCCC,NC_000009.12:133519081:CCCCCCC:CCCCCCCC,NC_000009.12:133519081:CCCCCCC:CCCCCCCCCCCCCC,NC_000009.12:133519081:CCCCCCC:CCCCCCCCCCCCCCC,NC_000009.12:133519081:CCCCCCC:CCCCCCCCCCCCCCCCCCCCC,NC_000009.12:133519081:CCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCC
Gene:: MYMK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCC=0.000061/1 (ALFA)
-=0.000143/19 (GnomAD)
-=0.001092/2 (Korea1K)
HGVS:: NC_000009.12:g.133519088del, NC_000009.12:g.133519088dup, NC_000009.12:g.133519082_133519088dup, NC_000009.12:g.133519088_133519089insCCCCCCCC, NC_000009.12:g.133519088_133519089insCCCCCCCCCCCCCC, NC_000009.12:g.133519088_133519089insCCCCCCCCCCCCCCCCC, NC_000009.11:g.136384210del, NC_000009.11:g.136384210dup, NC_000009.11:g.136384204_136384210dup, NC_000009.11:g.136384210_136384211insCCCCCCCC, NC_000009.11:g.136384210_136384211insCCCCCCCCCCCCCC, NC_000009.11:g.136384210_136384211insCCCCCCCCCCCCCCCCC

Select item 148882658817.

rs1488826588 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:133518909 (GRCh38)
9:136384031 (GRCh37)
Canonical SPDI:: NC_000009.12:133518908:T:C
Gene:: MYMK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000354/6 (TOMMO)
C=0.000546/1 (Korea1K)
C=0.00137/4 (KOREAN)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000009.12:g.133518909T>C, NC_000009.11:g.136384031T>C, NM_001080483.3:c.364A>G, NM_001080483.2:c.364A>G, NP_001073952.1:p.Ile122Val

Select item 148858291218.

rs1488582912 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 9:133516811 (GRCh38)
9:136381933 (GRCh37)
Canonical SPDI:: NC_000009.12:133516810:T:C,NC_000009.12:133516810:T:G
Gene:: MYMK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.00003/8 (TOPMED)
C=0.000071/1 (TOMMO)
HGVS:: NC_000009.12:g.133516811T>C, NC_000009.12:g.133516811T>G, NC_000009.11:g.136381933T>C, NC_000009.11:g.136381933T>G

Select item 148818199719.

rs1488181997 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:133526487 (GRCh38)
9:136391609 (GRCh37)
Canonical SPDI:: NC_000009.12:133526486:G:A
Gene:: MYMK (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000009.12:g.133526487G>A, NC_000009.11:g.136391609G>A

Select item 148811186520.

rs1488111865 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:133518246 (GRCh38)
9:136383368 (GRCh37)
Canonical SPDI:: NC_000009.12:133518245:C:A,NC_000009.12:133518245:C:T
Gene:: MYMK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.133518246C>A, NC_000009.12:g.133518246C>T, NC_000009.11:g.136383368C>A, NC_000009.11:g.136383368C>T

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