SNP Links for Gene (Select 374403) - SNP

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Select item 14912426681.

rs1491242668 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 11:67403046 (GRCh38)
11:67170518 (GRCh37)
Canonical SPDI:: NC_000011.10:67403046:G:GG
Gene:: PPP1CA (Varview), TBC1D10C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.67403047dup, NC_000011.9:g.67170518dup

Select item 14911866582.

rs1491186658 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 11:67403047 (GRCh38)
11:67170518 (GRCh37)
Canonical SPDI:: NC_000011.10:67403045:AGA:A
Gene:: PPP1CA (Varview), TBC1D10C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
-=0./0 (Korea1K)
-=0.000122/17 (GnomAD)
HGVS:: NC_000011.10:g.67403047_67403048del, NC_000011.9:g.67170518_67170519del

Select item 14908192563.

rs1490819256 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:67405110 (GRCh38)
11:67172581 (GRCh37)
Canonical SPDI:: NC_000011.10:67405109:A:G
Gene:: TBC1D10C (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_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_000011.10:g.67405110A>G, NC_000011.9:g.67172581A>G, XM_006718538.5:c.178A>G, XM_006718538.4:c.178A>G, XM_006718538.3:c.178A>G, XM_006718538.2:c.178A>G, XM_006718538.1:c.178A>G, XM_006718539.5:c.178A>G, XM_006718539.4:c.178A>G, XM_006718539.3:c.178A>G, XM_006718539.2:c.178A>G, XM_006718539.1:c.178A>G, NM_198517.4:c.178A>G, NM_198517.3:c.178A>G, XM_011545002.3:c.178A>G, XM_011545002.2:c.178A>G, XM_011545002.1:c.178A>G, NR_046266.2:n.451A>G, NR_046266.1:n.405A>G, XM_047426909.1:c.178A>G, XM_047426913.1:c.178A>G, NM_001369498.1:c.178A>G, NM_001369496.1:c.178A>G, NM_001369495.1:c.-122A>G, NM_001369497.1:c.178A>G, NM_001369494.1:c.-122A>G, XM_047426914.1:c.178A>G, NM_001369492.1:c.178A>G, XM_047426911.1:c.-122A>G, XM_047426910.1:c.178A>G, NM_001256508.1:c.178A>G, XP_006718601.1:p.Ile60Val, XP_006718602.1:p.Ile60Val, NP_940919.1:p.Ile60Val, XP_011543304.1:p.Ile60Val, XP_047282865.1:p.Ile60Val, XP_047282869.1:p.Ile60Val, NP_001356427.1:p.Ile60Val, NP_001356425.1:p.Ile60Val, NP_001356426.1:p.Ile60Val, XP_047282870.1:p.Ile60Val, NP_001356421.1:p.Ile60Val, XP_047282866.1:p.Ile60Val, NP_001243437.1:p.Ile60Val

Select item 14907557434.

rs1490755743 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:67408968 (GRCh38)
11:67176439 (GRCh37)
Canonical SPDI:: NC_000011.10:67408967:C:T
Gene:: TBC1D10C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000007/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.67408968C>T, NC_000011.9:g.67176439C>T, XM_047426909.1:c.*1219C>T, XM_047426913.1:c.*1219C>T

Select item 14900845605.

rs1490084560 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:67403777 (GRCh38)
11:67171248 (GRCh37)
Canonical SPDI:: NC_000011.10:67403776:C:T
Gene:: PPP1CA (Varview), TBC1D10C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000011.10:g.67403777C>T, NC_000011.9:g.67171248C>T

Select item 14899302896.

rs1489930289 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:67404172 (GRCh38)
11:67171643 (GRCh37)
Canonical SPDI:: NC_000011.10:67404171:T:C
Gene:: TBC1D10C (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,5_prime_UTR_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_000011.10:g.67404172T>C, NC_000011.9:g.67171643T>C, XM_006718538.5:c.-31T>C, XM_006718538.4:c.-31T>C, XM_006718538.3:c.-31T>C, XM_006718538.2:c.-31T>C, XM_006718538.1:c.-31T>C, XM_006718539.5:c.-31T>C, XM_006718539.4:c.-31T>C, XM_006718539.3:c.-31T>C, XM_006718539.2:c.-31T>C, XM_006718539.1:c.-31T>C, XM_011545002.3:c.-31T>C, XM_011545002.2:c.-31T>C, XM_011545002.1:c.-31T>C, NR_046266.2:n.243T>C, NR_046266.1:n.197T>C, XM_047426909.1:c.-31T>C, XM_047426913.1:c.-31T>C, NM_001369498.1:c.-31T>C, NM_001369496.1:c.-31T>C, NM_001369495.1:c.-330T>C, XM_047426914.1:c.-31T>C, NM_001369492.1:c.-31T>C, XM_047426910.1:c.-31T>C

Select item 14896860057.

rs1489686005 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:67405140 (GRCh38)
11:67172611 (GRCh37)
Canonical SPDI:: NC_000011.10:67405139:A:T
Gene:: TBC1D10C (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.67405140A>T, NC_000011.9:g.67172611A>T, XM_006718538.5:c.208A>T, XM_006718538.4:c.208A>T, XM_006718538.3:c.208A>T, XM_006718538.2:c.208A>T, XM_006718538.1:c.208A>T, XM_006718539.5:c.208A>T, XM_006718539.4:c.208A>T, XM_006718539.3:c.208A>T, XM_006718539.2:c.208A>T, XM_006718539.1:c.208A>T, NM_198517.4:c.208A>T, NM_198517.3:c.208A>T, XM_011545002.3:c.208A>T, XM_011545002.2:c.208A>T, XM_011545002.1:c.208A>T, NR_046266.2:n.481A>T, NR_046266.1:n.435A>T, XM_047426909.1:c.208A>T, XM_047426913.1:c.208A>T, NM_001369498.1:c.208A>T, NM_001369496.1:c.208A>T, NM_001369495.1:c.-92A>T, NM_001369497.1:c.208A>T, NM_001369494.1:c.-92A>T, XM_047426914.1:c.208A>T, NM_001369492.1:c.208A>T, XM_047426911.1:c.-92A>T, XM_047426910.1:c.208A>T, NM_001256508.1:c.208A>T, XP_006718601.1:p.Met70Leu, XP_006718602.1:p.Met70Leu, NP_940919.1:p.Met70Leu, XP_011543304.1:p.Met70Leu, XP_047282865.1:p.Met70Leu, XP_047282869.1:p.Met70Leu, NP_001356427.1:p.Met70Leu, NP_001356425.1:p.Met70Leu, NP_001356426.1:p.Met70Leu, XP_047282870.1:p.Met70Leu, NP_001356421.1:p.Met70Leu, XP_047282866.1:p.Met70Leu, NP_001243437.1:p.Met70Leu

Select item 14895792608.

rs1489579260 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:67407503 (GRCh38)
11:67174974 (GRCh37)
Canonical SPDI:: NC_000011.10:67407502:C:T
Gene:: TBC1D10C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.67407503C>T, NC_000011.9:g.67174974C>T

Select item 14895500269.

rs1489550026 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:67406555 (GRCh38)
11:67174026 (GRCh37)
Canonical SPDI:: NC_000011.10:67406554:C:A
Gene:: TBC1D10C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.67406555C>A, NC_000011.9:g.67174026C>A

Select item 148897577610.

rs1488975776 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:67402010 (GRCh38)
11:67169481 (GRCh37)
Canonical SPDI:: NC_000011.10:67402009:G:C
Gene:: PPP1CA (Varview), TBC1D10C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000011.10:g.67402010G>C, NC_000011.9:g.67169481G>C

Select item 148865192311.

rs1488651923 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:67402862 (GRCh38)
11:67170333 (GRCh37)
Canonical SPDI:: NC_000011.10:67402861:C:G,NC_000011.10:67402861:C:T
Gene:: PPP1CA (Varview), TBC1D10C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000008/2 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000011.10:g.67402862C>G, NC_000011.10:g.67402862C>T, NC_000011.9:g.67170333C>G, NC_000011.9:g.67170333C>T

Select item 148859009912.

rs1488590099 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 11:67403681 (GRCh38)
11:67171153 (GRCh37)
Canonical SPDI:: NC_000011.10:67403681:T:TT
Gene:: PPP1CA (Varview), TBC1D10C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000011.10:g.67403682dup, NC_000011.9:g.67171153dup

Select item 148844183713.

rs1488441837 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:67406012 (GRCh38)
11:67173483 (GRCh37)
Canonical SPDI:: NC_000011.10:67406011:C:A
Gene:: TBC1D10C (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant,synonymous_variant
HGVS:: NC_000011.10:g.67406012C>A, NC_000011.9:g.67173483C>A, XM_006718538.5:c.577C>A, XM_006718538.4:c.577C>A, XM_006718538.3:c.577C>A, XM_006718538.2:c.577C>A, XM_006718538.1:c.577C>A, XM_006718539.5:c.577C>A, XM_006718539.4:c.577C>A, XM_006718539.3:c.577C>A, XM_006718539.2:c.577C>A, XM_006718539.1:c.577C>A, NM_198517.4:c.577C>A, NM_198517.3:c.577C>A, XM_011545002.3:c.577C>A, XM_011545002.2:c.577C>A, XM_011545002.1:c.577C>A, NR_046266.2:n.850C>A, NR_046266.1:n.804C>A, XM_047426909.1:c.573C>A, NM_001369498.1:c.577C>A, NM_001369496.1:c.577C>A, NM_001369495.1:c.274C>A, NM_001369497.1:c.577C>A, NM_001369494.1:c.274C>A, XM_047426914.1:c.573C>A, XM_047426910.1:c.573C>A, NM_001256508.1:c.573C>A, XP_006718601.1:p.Pro193Thr, XP_006718602.1:p.Pro193Thr, NP_940919.1:p.Pro193Thr, XP_011543304.1:p.Pro193Thr, NP_001356427.1:p.Pro193Thr, NP_001356425.1:p.Pro193Thr, NP_001356424.1:p.Pro92Thr, NP_001356426.1:p.Pro193Thr, NP_001356423.1:p.Pro92Thr

Select item 148792308114.

rs1487923081 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:67402858 (GRCh38)
11:67170329 (GRCh37)
Canonical SPDI:: NC_000011.10:67402857:A:C,NC_000011.10:67402857:A:G
Gene:: PPP1CA (Varview), TBC1D10C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.67402858A>C, NC_000011.10:g.67402858A>G, NC_000011.9:g.67170329A>C, NC_000011.9:g.67170329A>G

Select item 148743173015.

rs1487431730 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:67403056 (GRCh38)
11:67170527 (GRCh37)
Canonical SPDI:: NC_000011.10:67403055:A:G
Gene:: PPP1CA (Varview), TBC1D10C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.67403056A>G, NC_000011.9:g.67170527A>G

Select item 148726523916.

rs1487265239 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:67405994 (GRCh38)
11:67173465 (GRCh37)
Canonical SPDI:: NC_000011.10:67405993:C:T
Gene:: TBC1D10C (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.67405994C>T, NC_000011.9:g.67173465C>T, XM_006718538.5:c.559C>T, XM_006718538.4:c.559C>T, XM_006718538.3:c.559C>T, XM_006718538.2:c.559C>T, XM_006718538.1:c.559C>T, XM_006718539.5:c.559C>T, XM_006718539.4:c.559C>T, XM_006718539.3:c.559C>T, XM_006718539.2:c.559C>T, XM_006718539.1:c.559C>T, NM_198517.4:c.559C>T, NM_198517.3:c.559C>T, XM_011545002.3:c.559C>T, XM_011545002.2:c.559C>T, XM_011545002.1:c.559C>T, NR_046266.2:n.832C>T, NR_046266.1:n.786C>T, XM_047426909.1:c.555C>T, NM_001369498.1:c.559C>T, NM_001369496.1:c.559C>T, NM_001369495.1:c.256C>T, NM_001369497.1:c.559C>T, NM_001369494.1:c.256C>T, XM_047426914.1:c.555C>T, XM_047426910.1:c.555C>T, NM_001256508.1:c.555C>T

Select item 148701553217.

rs1487015532 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:67403690 (GRCh38)
11:67171161 (GRCh37)
Canonical SPDI:: NC_000011.10:67403689:A:C
Gene:: PPP1CA (Varview), TBC1D10C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000011.10:g.67403690A>C, NC_000011.9:g.67171161A>C

Select item 148676264018.

rs1486762640 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:67401930 (GRCh38)
11:67169401 (GRCh37)
Canonical SPDI:: NC_000011.10:67401929:G:A
Gene:: PPP1CA (Varview), TBC1D10C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000011.10:g.67401930G>A, NC_000011.9:g.67169401G>A

Select item 148667942519.

rs1486679425 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:67404859 (GRCh38)
11:67172330 (GRCh37)
Canonical SPDI:: NC_000011.10:67404858:A:G
Gene:: TBC1D10C (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
G=0.000546/1 (Korea1K)
HGVS:: NC_000011.10:g.67404859A>G, NC_000011.9:g.67172330A>G

Select item 148613622920.

rs1486136229 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:67402478 (GRCh38)
11:67169949 (GRCh37)
Canonical SPDI:: NC_000011.10:67402477:G:C
Gene:: PPP1CA (Varview), TBC1D10C (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_000011.10:g.67402478G>C, NC_000011.9:g.67169949G>C

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