SNP Links for Protein (Select 146198864) - SNP

Links from Protein

Items: 1 to 20 of 237

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Select item 14892742761.

rs1489274276 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 13:45194361 (GRCh38)
13:45768496 (GRCh37)
Canonical SPDI:: NC_000013.11:45194360:G:T
Gene:: GTF2F2 (Varview), KCTD4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,stop_gained,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.45194361G>T, NC_000013.10:g.45768496G>T, NM_198404.3:c.207C>A, NM_198404.2:c.207C>A, NP_940686.2:p.Cys69Ter

Select item 14884465852.

rs1488446585 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:45194014 (GRCh38)
13:45768149 (GRCh37)
Canonical SPDI:: NC_000013.11:45194013:T:C
Gene:: GTF2F2 (Varview), KCTD4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.45194014T>C, NC_000013.10:g.45768149T>C, NM_198404.3:c.554A>G, NM_198404.2:c.554A>G, NP_940686.2:p.Glu185Gly

Select item 14882955503.

rs1488295550 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:45194002 (GRCh38)
13:45768137 (GRCh37)
Canonical SPDI:: NC_000013.11:45194001:A:G
Gene:: GTF2F2 (Varview), KCTD4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.45194002A>G, NC_000013.10:g.45768137A>G, NM_198404.3:c.566T>C, NM_198404.2:c.566T>C, NP_940686.2:p.Ile189Thr

Select item 14879712134.

rs1487971213 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:45193940 (GRCh38)
13:45768075 (GRCh37)
Canonical SPDI:: NC_000013.11:45193939:G:A
Gene:: GTF2F2 (Varview), KCTD4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.45193940G>A, NC_000013.10:g.45768075G>A, NM_198404.3:c.628C>T, NM_198404.2:c.628C>T

Select item 14849668275.

rs1484966827 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:45194459 (GRCh38)
13:45768594 (GRCh37)
Canonical SPDI:: NC_000013.11:45194458:G:C
Gene:: GTF2F2 (Varview), KCTD4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.45194459G>C, NC_000013.10:g.45768594G>C, NM_198404.3:c.109C>G, NM_198404.2:c.109C>G, NP_940686.2:p.Leu37Val

Select item 14845450086.

rs1484545008 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:45194144 (GRCh38)
13:45768279 (GRCh37)
Canonical SPDI:: NC_000013.11:45194143:A:G
Gene:: GTF2F2 (Varview), KCTD4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.45194144A>G, NC_000013.10:g.45768279A>G, NM_198404.3:c.424T>C, NM_198404.2:c.424T>C, NP_940686.2:p.Phe142Leu

Select item 14840089727.

rs1484008972 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:45194548 (GRCh38)
13:45768683 (GRCh37)
Canonical SPDI:: NC_000013.11:45194547:C:T
Gene:: GTF2F2 (Varview), KCTD4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000013.11:g.45194548C>T, NC_000013.10:g.45768683C>T, NM_198404.3:c.20G>A, NM_198404.2:c.20G>A, NP_940686.2:p.Arg7Lys

Select item 14783618448.

rs1478361844 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 13:45194219 (GRCh38)
13:45768354 (GRCh37)
Canonical SPDI:: NC_000013.11:45194218:A:T
Gene:: GTF2F2 (Varview), KCTD4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.45194219A>T, NC_000013.10:g.45768354A>T, NM_198404.3:c.349T>A, NM_198404.2:c.349T>A, NP_940686.2:p.Phe117Ile

Select item 14778929429.

rs1477892942 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:45193948 (GRCh38)
13:45768083 (GRCh37)
Canonical SPDI:: NC_000013.11:45193947:C:T
Gene:: GTF2F2 (Varview), KCTD4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000056/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000013.11:g.45193948C>T, NC_000013.10:g.45768083C>T, NM_198404.3:c.620G>A, NM_198404.2:c.620G>A, NP_940686.2:p.Arg207Gln

Select item 146604567010.

rs1466045670 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:45193819 (GRCh38)
13:45767954 (GRCh37)
Canonical SPDI:: NC_000013.11:45193818:A:C
Gene:: GTF2F2 (Varview), KCTD4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
HGVS:: NC_000013.11:g.45193819A>C, NC_000013.10:g.45767954A>C, NM_198404.3:c.749T>G, NM_198404.2:c.749T>G, NP_940686.2:p.Val250Gly

Select item 146168622511.

rs1461686225 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:45194499 (GRCh38)
13:45768634 (GRCh37)
Canonical SPDI:: NC_000013.11:45194498:A:G
Gene:: GTF2F2 (Varview), KCTD4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.45194499A>G, NC_000013.10:g.45768634A>G, NM_198404.3:c.69T>C, NM_198404.2:c.69T>C

Select item 146110232812.

rs1461102328 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:45194470 (GRCh38)
13:45768605 (GRCh37)
Canonical SPDI:: NC_000013.11:45194469:G:A
Gene:: GTF2F2 (Varview), KCTD4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.45194470G>A, NC_000013.10:g.45768605G>A, NM_198404.3:c.98C>T, NM_198404.2:c.98C>T, NP_940686.2:p.Thr33Ile

Select item 145854190513.

rs1458541905 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 13:45194549 (GRCh38)
13:45768684 (GRCh37)
Canonical SPDI:: NC_000013.11:45194548:T:A
Gene:: GTF2F2 (Varview), KCTD4 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.45194549T>A, NC_000013.10:g.45768684T>A, NM_198404.3:c.19A>T, NM_198404.2:c.19A>T, NP_940686.2:p.Arg7Ter

Select item 145389037014.

rs1453890370 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:45194550 (GRCh38)
13:45768685 (GRCh37)
Canonical SPDI:: NC_000013.11:45194549:G:A
Gene:: GTF2F2 (Varview), KCTD4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.45194550G>A, NC_000013.10:g.45768685G>A, NM_198404.3:c.18C>T, NM_198404.2:c.18C>T

Select item 145244220415.

rs1452442204 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:45194308 (GRCh38)
13:45768443 (GRCh37)
Canonical SPDI:: NC_000013.11:45194307:C:G
Gene:: GTF2F2 (Varview), KCTD4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.45194308C>G, NC_000013.10:g.45768443C>G, NM_198404.3:c.260G>C, NM_198404.2:c.260G>C, NP_940686.2:p.Arg87Thr

Select item 145158407716.

rs1451584077 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 13:45194497 (GRCh38)
13:45768632 (GRCh37)
Canonical SPDI:: NC_000013.11:45194496:G:A,NC_000013.11:45194496:G:T
Gene:: GTF2F2 (Varview), KCTD4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.45194497G>A, NC_000013.11:g.45194497G>T, NC_000013.10:g.45768632G>A, NC_000013.10:g.45768632G>T, NM_198404.3:c.71C>T, NM_198404.3:c.71C>A, NM_198404.2:c.71C>T, NM_198404.2:c.71C>A, NP_940686.2:p.Thr24Ile, NP_940686.2:p.Thr24Asn

Select item 144369198617.

rs1443691986 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:45194084 (GRCh38)
13:45768219 (GRCh37)
Canonical SPDI:: NC_000013.11:45194083:G:A
Gene:: GTF2F2 (Varview), KCTD4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.45194084G>A, NC_000013.10:g.45768219G>A, NM_198404.3:c.484C>T, NM_198404.2:c.484C>T, NP_940686.2:p.Pro162Ser

Select item 144112826618.

rs1441128266 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:45194476 (GRCh38)
13:45768611 (GRCh37)
Canonical SPDI:: NC_000013.11:45194475:T:G
Gene:: GTF2F2 (Varview), KCTD4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.45194476T>G, NC_000013.10:g.45768611T>G, NM_198404.3:c.92A>C, NM_198404.2:c.92A>C, NP_940686.2:p.Lys31Thr

Select item 143928292919.

rs1439282929 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:45194115 (GRCh38)
13:45768250 (GRCh37)
Canonical SPDI:: NC_000013.11:45194114:A:C
Gene:: GTF2F2 (Varview), KCTD4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000013.11:g.45194115A>C, NC_000013.10:g.45768250A>C, NM_198404.3:c.453T>G, NM_198404.2:c.453T>G

Select item 143413835720.

rs1434138357 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:45193912 (GRCh38)
13:45768047 (GRCh37)
Canonical SPDI:: NC_000013.11:45193911:G:C
Gene:: GTF2F2 (Varview), KCTD4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant,upstream_transcript_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_000013.11:g.45193912G>C, NC_000013.10:g.45768047G>C, NM_198404.3:c.656C>G, NM_198404.2:c.656C>G, NP_940686.2:p.Thr219Ser

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