SNP Links for Gene (Select 148014) - SNP

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Select item 14901819021.

rs1490181902 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:40215833 (GRCh38)
19:40721740 (GRCh37)
Canonical SPDI:: NC_000019.10:40215832:C:T
Gene:: MAP3K10 (Varview), TTC9B (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.40215833C>T, NC_000019.9:g.40721740C>T

Select item 14899307772.

rs1489930777 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:40218161 (GRCh38)
19:40724068 (GRCh37)
Canonical SPDI:: NC_000019.10:40218160:C:G,NC_000019.10:40218160:C:T
Gene:: TTC9B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.40218161C>G, NC_000019.10:g.40218161C>T, NC_000019.9:g.40724068C>G, NC_000019.9:g.40724068C>T, NM_152479.6:c.221G>C, NM_152479.6:c.221G>A, NM_152479.5:c.221G>C, NM_152479.5:c.221G>A, XM_017026368.2:c.221G>C, XM_017026368.2:c.221G>A, XM_017026368.1:c.221G>C, XM_017026368.1:c.221G>A, NP_689692.2:p.Arg74Pro, NP_689692.2:p.Arg74His, XP_016881857.1:p.Arg74Pro, XP_016881857.1:p.Arg74His

Select item 14898717283.

rs1489871728 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:40218012 (GRCh38)
19:40723919 (GRCh37)
Canonical SPDI:: NC_000019.10:40218011:C:A,NC_000019.10:40218011:C:T
Gene:: TTC9B (Varview)
Functional Consequence:: stop_gained,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000055/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.40218012C>A, NC_000019.10:g.40218012C>T, NC_000019.9:g.40723919C>A, NC_000019.9:g.40723919C>T, NM_152479.6:c.370G>T, NM_152479.6:c.370G>A, NM_152479.5:c.370G>T, NM_152479.5:c.370G>A, XM_017026368.2:c.370G>T, XM_017026368.2:c.370G>A, XM_017026368.1:c.370G>T, XM_017026368.1:c.370G>A, NP_689692.2:p.Glu124Ter, NP_689692.2:p.Glu124Lys, XP_016881857.1:p.Glu124Ter, XP_016881857.1:p.Glu124Lys

Select item 14897281924.

rs1489728192 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:40215736 (GRCh38)
19:40721643 (GRCh37)
Canonical SPDI:: NC_000019.10:40215735:A:T
Gene:: MAP3K10 (Varview), TTC9B (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.40215736A>T, NC_000019.9:g.40721643A>T

Select item 14894700115.

rs1489470011 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:40217136 (GRCh38)
19:40723043 (GRCh37)
Canonical SPDI:: NC_000019.10:40217135:C:G
Gene:: TTC9B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.40217136C>G, NC_000019.9:g.40723043C>G

Select item 14889242176.

rs1488924217 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:40220285 (GRCh38)
19:40726192 (GRCh37)
Canonical SPDI:: NC_000019.10:40220284:C:G
Gene:: TTC9B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.40220285C>G, NC_000019.9:g.40726192C>G

Select item 14888167927.

rs1488816792 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 19:40220158 (GRCh38)
19:40726065 (GRCh37)
Canonical SPDI:: NC_000019.10:40220157:CCCC:CCC
Gene:: TTC9B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CCC=0./0 (ALFA)
HGVS:: NC_000019.10:g.40220161del, NC_000019.9:g.40726068del

Select item 14878533488.

rs1487853348 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:40218455 (GRCh38)
19:40724362 (GRCh37)
Canonical SPDI:: NC_000019.10:40218454:G:A,NC_000019.10:40218454:G:T
Gene:: TTC9B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.40218455G>A, NC_000019.10:g.40218455G>T, NC_000019.9:g.40724362G>A, NC_000019.9:g.40724362G>T

Select item 14878332849.

rs1487833284 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:40220646 (GRCh38)
19:40726553 (GRCh37)
Canonical SPDI:: NC_000019.10:40220645:A:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.40220646A>G, NC_000019.9:g.40726553A>G

Select item 148661375310.

rs1486613753 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:40220489 (GRCh38)
19:40726396 (GRCh37)
Canonical SPDI:: NC_000019.10:40220488:G:A,NC_000019.10:40220488:G:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.40220489G>A, NC_000019.10:g.40220489G>T, NC_000019.9:g.40726396G>A, NC_000019.9:g.40726396G>T

Select item 148566929311.

rs1485669293 [Homo sapiens]

Variant type:: DEL
Alleles:: AAGGAAAGGG>- [Show Flanks]
Chromosome:: 19:40219264 (GRCh38)
19:40725171 (GRCh37)
Canonical SPDI:: NC_000019.10:40219263:AAGGAAAGGG:
Gene:: TTC9B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000019.10:g.40219264_40219273del, NC_000019.9:g.40725171_40725180del

Select item 148513266212.

rs1485132662 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 19:40217934 (GRCh38)
19:40723841 (GRCh37)
Canonical SPDI:: NC_000019.10:40217933:C:A,NC_000019.10:40217933:C:G
Gene:: TTC9B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.40217934C>A, NC_000019.10:g.40217934C>G, NC_000019.9:g.40723841C>A, NC_000019.9:g.40723841C>G

Select item 148485523513.

rs1484855235 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:40216357 (GRCh38)
19:40722264 (GRCh37)
Canonical SPDI:: NC_000019.10:40216356:C:T
Gene:: TTC9B (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.40216357C>T, NC_000019.9:g.40722264C>T, XM_017026368.2:c.829G>A, XM_017026368.1:c.829G>A, XP_016881857.1:p.Glu277Lys

Select item 148467418914.

rs1484674189 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:40219762 (GRCh38)
19:40725669 (GRCh37)
Canonical SPDI:: NC_000019.10:40219761:A:C
Gene:: TTC9B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.40219762A>C, NC_000019.9:g.40725669A>C

Select item 148462637115.

rs1484626371 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 19:40220112 (GRCh38)
19:40726019 (GRCh37)
Canonical SPDI:: NC_000019.10:40220111:C:A,NC_000019.10:40220111:C:G
Gene:: TTC9B (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)
G=0.00046/13 (TOMMO)
HGVS:: NC_000019.10:g.40220112C>A, NC_000019.10:g.40220112C>G, NC_000019.9:g.40726019C>A, NC_000019.9:g.40726019C>G

Select item 148457683516.

rs1484576835 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:40219127 (GRCh38)
19:40725034 (GRCh37)
Canonical SPDI:: NC_000019.10:40219126:G:A
Gene:: TTC9B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.40219127G>A, NC_000019.9:g.40725034G>A

Select item 148374069417.

rs1483740694 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:40215626 (GRCh38)
19:40721533 (GRCh37)
Canonical SPDI:: NC_000019.10:40215625:A:C,NC_000019.10:40215625:A:G
Gene:: MAP3K10 (Varview), TTC9B (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.03515/102 (KOREAN)
HGVS:: NC_000019.10:g.40215626A>C, NC_000019.10:g.40215626A>G, NC_000019.9:g.40721533A>C, NC_000019.9:g.40721533A>G

Select item 148370181218.

rs1483701812 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:40217031 (GRCh38)
19:40722938 (GRCh37)
Canonical SPDI:: NC_000019.10:40217030:G:A,NC_000019.10:40217030:G:T
Gene:: TTC9B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.40217031G>A, NC_000019.10:g.40217031G>T, NC_000019.9:g.40722938G>A, NC_000019.9:g.40722938G>T

Select item 148332214619.

rs1483322146 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 19:40217136 (GRCh38)
19:40723043 (GRCh37)
Canonical SPDI:: NC_000019.10:40217135:CT:
Gene:: TTC9B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.40217136_40217137del, NC_000019.9:g.40723043_40723044del

Select item 148269776520.

rs1482697765 has merged into rs71171552 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG>-,AAAGG,AAAGGAAAGG,AAAGGAAAGGAAAGG,AAAGGAAAGGAAAGGAAAGG,AAAGGAAAGGAAAGGAAAGGAAAGG,AAAGGAAAGGAAAGGAAAGGAAAGGAAAGG,AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG,AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG,AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG,AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG,AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG,AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG,AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG [Show Flanks]
Chromosome:: 19:40219238 (GRCh38)
19:40725145 (GRCh37)
Canonical SPDI:: NC_000019.10:40219202:AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG:AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG,NC_000019.10:40219202:AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG:AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG,NC_000019.10:40219202:AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG:AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG,NC_000019.10:40219202:AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG:AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG,NC_000019.10:40219202:AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG:AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG,NC_000019.10:40219202:AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG:AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG,NC_000019.10:40219202:AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG:AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG,NC_000019.10:40219202:AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG:AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG,NC_000019.10:40219202:AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG:AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG,NC_000019.10:40219202:AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG:AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG,NC_000019.10:40219202:AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG:AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG,NC_000019.10:40219202:AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG:AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG,NC_000019.10:40219202:AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG:AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG,NC_000019.10:40219202:AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG:AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG
Gene:: TTC9B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG=0./0 (ALFA)
-=0.2242/864 (ALSPAC)
HGVS:: NC_000019.10:g.40219203AAAGG[7], NC_000019.10:g.40219203AAAGG[8], NC_000019.10:g.40219203AAAGG[9], NC_000019.10:g.40219203AAAGG[10], NC_000019.10:g.40219203AAAGG[11], NC_000019.10:g.40219203AAAGG[12], NC_000019.10:g.40219203AAAGG[13], NC_000019.10:g.40219203AAAGG[15], NC_000019.10:g.40219203AAAGG[16], NC_000019.10:g.40219203AAAGG[17], NC_000019.10:g.40219203AAAGG[18], NC_000019.10:g.40219203AAAGG[19], NC_000019.10:g.40219203AAAGG[20], NC_000019.10:g.40219203AAAGG[21], NC_000019.9:g.40725110AAAGG[7], NC_000019.9:g.40725110AAAGG[8], NC_000019.9:g.40725110AAAGG[9], NC_000019.9:g.40725110AAAGG[10], NC_000019.9:g.40725110AAAGG[11], NC_000019.9:g.40725110AAAGG[12], NC_000019.9:g.40725110AAAGG[13], NC_000019.9:g.40725110AAAGG[15], NC_000019.9:g.40725110AAAGG[16], NC_000019.9:g.40725110AAAGG[17], NC_000019.9:g.40725110AAAGG[18], NC_000019.9:g.40725110AAAGG[19], NC_000019.9:g.40725110AAAGG[20], NC_000019.9:g.40725110AAAGG[21]

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