SNP Links for Gene (Select 147744) - SNP

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Select item 14915495041.

rs1491549504 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 19:55377135 (GRCh38)
19:55888503 (GRCh37)
Canonical SPDI:: NC_000019.10:55377134:CG:
Gene:: TMEM190 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000027/3 (GnomAD)
-=0.004918/9 (Korea1K)
-=0.005878/98 (TOMMO)
HGVS:: NC_000019.10:g.55377135_55377136del, NC_000019.9:g.55888503_55888504del

Select item 14915318682.

rs1491531868 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 19:55374993 (GRCh38)
19:55886361 (GRCh37)
Canonical SPDI:: NC_000019.10:55374992:CCCCCC:CCCCC,NC_000019.10:55374992:CCCCCC:CCCCCCC
Gene:: TMEM190 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CCCCCCC=0.00068/8 (ALFA)
-=0./0 (GnomAD)
HGVS:: NC_000019.10:g.55374998del, NC_000019.10:g.55374998dup, NC_000019.9:g.55886366del, NC_000019.9:g.55886366dup

Select item 14897658503.

rs1489765850 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:55374397 (GRCh38)
19:55885765 (GRCh37)
Canonical SPDI:: NC_000019.10:55374396:G:C
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.55374397G>C, NC_000019.9:g.55885765G>C

Select item 14877359004.

rs1487735900 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:55376049 (GRCh38)
19:55887417 (GRCh37)
Canonical SPDI:: NC_000019.10:55376048:C:T
Gene:: TMEM190 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.55376049C>T, NC_000019.9:g.55887417C>T

Select item 14877225475.

rs1487722547 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:55374838 (GRCh38)
19:55886206 (GRCh37)
Canonical SPDI:: NC_000019.10:55374837:C:T
Gene:: TMEM190 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.00092/26 (TOMMO)
HGVS:: NC_000019.10:g.55374838C>T, NC_000019.9:g.55886206C>T

Select item 14874433906.

rs1487443390 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 19:55374953 (GRCh38)
19:55886321 (GRCh37)
Canonical SPDI:: NC_000019.10:55374952:GG:G
Gene:: TMEM190 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.00002/1 (GnomAD)
HGVS:: NC_000019.10:g.55374954del, NC_000019.9:g.55886322del

Select item 14869675637.

rs1486967563 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:55376025 (GRCh38)
19:55887393 (GRCh37)
Canonical SPDI:: NC_000019.10:55376024:G:A
Gene:: TMEM190 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.55376025G>A, NC_000019.9:g.55887393G>A

Select item 14865734938.

rs1486573493 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:55378593 (GRCh38)
19:55889961 (GRCh37)
Canonical SPDI:: NC_000019.10:55378592:G:A
Gene:: TMEM190 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.55378593G>A, NC_000019.9:g.55889961G>A

Select item 14865633609.

rs1486563360 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:55376725 (GRCh38)
19:55888093 (GRCh37)
Canonical SPDI:: NC_000019.10:55376724:C:T
Gene:: TMEM190 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.00003/8 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000019.10:g.55376725C>T, NC_000019.9:g.55888093C>T

Select item 148609825110.

rs1486098251 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:55374946 (GRCh38)
19:55886314 (GRCh37)
Canonical SPDI:: NC_000019.10:55374945:G:A
Gene:: TMEM190 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.55374946G>A, NC_000019.9:g.55886314G>A

Select item 148546940711.

rs1485469407 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:55377386 (GRCh38)
19:55888754 (GRCh37)
Canonical SPDI:: NC_000019.10:55377385:C:G
Gene:: TMEM190 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.00025/3 (ALFA)
G=0.0218/63 (KOREAN)
HGVS:: NC_000019.10:g.55377386C>G, NC_000019.9:g.55888754C>G

Select item 148530220312.

rs1485302203 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:55377106 (GRCh38)
19:55888474 (GRCh37)
Canonical SPDI:: NC_000019.10:55377105:G:A
Gene:: TMEM190 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000026/7 (TOPMED)
A=0.00005/7 (GnomAD)
HGVS:: NC_000019.10:g.55377106G>A, NC_000019.9:g.55888474G>A

Select item 148446336313.

rs1484463363 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:55376779 (GRCh38)
19:55888147 (GRCh37)
Canonical SPDI:: NC_000019.10:55376778:G:A
Gene:: TMEM190 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.55376779G>A, NC_000019.9:g.55888147G>A

Select item 148439212214.

rs1484392122 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 19:55377381 (GRCh38)
19:55888749 (GRCh37)
Canonical SPDI:: NC_000019.10:55377379:GAG:G
Gene:: TMEM190 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.00008/1 (ALFA)
HGVS:: NC_000019.10:g.55377381_55377382del, NC_000019.9:g.55888749_55888750del

Select item 148423827315.

rs1484238273 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 19:55374443 (GRCh38)
19:55885811 (GRCh37)
Canonical SPDI:: NC_000019.10:55374442:C:A,NC_000019.10:55374442:C:G,NC_000019.10:55374442:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.55374443C>A, NC_000019.10:g.55374443C>G, NC_000019.10:g.55374443C>T, NC_000019.9:g.55885811C>A, NC_000019.9:g.55885811C>G, NC_000019.9:g.55885811C>T

Select item 148420679016.

rs1484206790 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:55374126 (GRCh38)
19:55885494 (GRCh37)
Canonical SPDI:: NC_000019.10:55374125:C:G,NC_000019.10:55374125:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.55374126C>G, NC_000019.10:g.55374126C>T, NC_000019.9:g.55885494C>G, NC_000019.9:g.55885494C>T

Select item 148403442917.

rs1484034429 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:55376700 (GRCh38)
19:55888068 (GRCh37)
Canonical SPDI:: NC_000019.10:55376699:G:A,NC_000019.10:55376699:G:C
Gene:: TMEM190 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.55376700G>A, NC_000019.10:g.55376700G>C, NC_000019.9:g.55888068G>A, NC_000019.9:g.55888068G>C

Select item 148377823818.

rs1483778238 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:55374624 (GRCh38)
19:55885992 (GRCh37)
Canonical SPDI:: NC_000019.10:55374623:G:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.55374624G>A, NC_000019.9:g.55885992G>A

Select item 148365798919.

rs1483657989 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:55376307 (GRCh38)
19:55887675 (GRCh37)
Canonical SPDI:: NC_000019.10:55376306:T:C
Gene:: TMEM190 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.55376307T>C, NC_000019.9:g.55887675T>C

Select item 148330628420.

rs1483306284 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:55374996 (GRCh38)
19:55886364 (GRCh37)
Canonical SPDI:: NC_000019.10:55374995:C:G,NC_000019.10:55374995:C:T
Gene:: TMEM190 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0./0 (SGDP_PRJ)
T=0.00011/3 (TOMMO)
HGVS:: NC_000019.10:g.55374996C>G, NC_000019.10:g.55374996C>T, NC_000019.9:g.55886364C>G, NC_000019.9:g.55886364C>T

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