SNP Links for Gene (Select 100506376) - SNP

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Select item 14913651061.

rs1491365106 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 1:1175963 (GRCh38)
1:1111343 (GRCh37)
Canonical SPDI:: NC_000001.11:1175961:AAA:A
Gene:: TTLL10 (Varview), TTLL10-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00017/2 (ALFA)
HGVS:: NC_000001.11:g.1175963_1175964del, NC_000001.10:g.1111343_1111344del, NR_173246.1:n.625_626del

Select item 14913582222.

rs1491358222 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTGTGTGTACGTGTGTGTGT [Show Flanks]
Chromosome:: 1:1177081 (GRCh38)
1:1112462 (GRCh37)
Canonical SPDI:: NC_000001.11:1177081:GTGTGTGTGTCTGTGTGTACGTGTGTGTGT:GTGTGTGTGTCTGTGTGTACGTGTGTGTGTCTGTGTGTACGTGTGTGTGT
Gene:: TTLL10 (Varview), TTLL10-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GTGTGTGTGTCTGTGTGTACGTGTGTGTGTCTGTGTGTACGTGTGTGTGT=0./0 (ALFA)
GTGTGTGTGTCTGTGTGTAC=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.1177092_1177111dup, NC_000001.10:g.1112472_1112491dup

Select item 14911981943.

rs1491198194 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:1175962 (GRCh38)
1:1111343 (GRCh37)
Canonical SPDI:: NC_000001.11:1175962::G
Gene:: TTLL10 (Varview), TTLL10-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
HGVS:: NC_000001.11:g.1175962_1175963insG, NC_000001.10:g.1111342_1111343insG, NR_173246.1:n.625_626insC

Select item 14911736014.

rs1491173601 [Homo sapiens]

Variant type:: INS
Alleles:: ->CTGTCTCTTAT [Show Flanks]
Chromosome:: 1:1175830 (GRCh38)
1:1111211 (GRCh37)
Canonical SPDI:: NC_000001.11:1175830::CTGTCTCTTAT
Gene:: TTLL10 (Varview), TTLL10-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
HGVS:: NC_000001.11:g.1175830_1175831insCTGTCTCTTAT, NC_000001.10:g.1111210_1111211insCTGTCTCTTAT, NR_173246.1:n.757_758insATAAGAGACAG

Select item 14911703395.

rs1491170339 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 1:1175835 (GRCh38)
1:1111215 (GRCh37)
Canonical SPDI:: NC_000001.11:1175829:GAGAGAG:GAGAG
Gene:: TTLL10 (Varview), TTLL10-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAG=0./0 (ALFA)
-=0.00014/2 (TOMMO)
HGVS:: NC_000001.11:g.1175831AG[2], NC_000001.10:g.1111211AG[2], NR_173246.1:n.753TC[2]

Select item 14908623236.

rs1490862323 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:1174935 (GRCh38)
1:1110315 (GRCh37)
Canonical SPDI:: NC_000001.11:1174934:G:A
Gene:: TTLL10 (Varview), TTLL10-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000128/18 (GnomAD)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000001.11:g.1174935G>A, NC_000001.10:g.1110315G>A, NR_173246.1:n.1653C>T

Select item 14906907277.

rs1490690727 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:1179607 (GRCh38)
1:1114987 (GRCh37)
Canonical SPDI:: NC_000001.11:1179606:C:A,NC_000001.11:1179606:C:T
Gene:: TTLL10 (Varview), TTLL10-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.1179607C>A, NC_000001.11:g.1179607C>T, NC_000001.10:g.1114987C>A, NC_000001.10:g.1114987C>T

Select item 14906411568.

rs1490641156 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:1173558 (GRCh38)
1:1108938 (GRCh37)
Canonical SPDI:: NC_000001.11:1173557:A:G
Gene:: TTLL10 (Varview), TTLL10-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.1173558A>G, NC_000001.10:g.1108938A>G, NR_173246.1:n.3030T>C

Select item 14903831489.

rs1490383148 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:1172881 (GRCh38)
1:1108261 (GRCh37)
Canonical SPDI:: NC_000001.11:1172880:G:A
Gene:: TTLL10 (Varview), TTLL10-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.1172881G>A, NC_000001.10:g.1108261G>A

Select item 149032300810.

rs1490323008 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 1:1174244 (GRCh38)
1:1109624 (GRCh37)
Canonical SPDI:: NC_000001.11:1174243:GG:G
Gene:: TTLL10 (Varview), TTLL10-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.1174245del, NC_000001.10:g.1109625del, XM_017000910.3:c.-75del, XM_017000906.2:c.-75del, XM_017000909.2:c.-75del, XM_017000907.2:c.-75del, XM_017000908.2:c.-75del, NR_173246.1:n.2344del, XM_047416841.1:c.-75del, XM_047416843.1:c.-75del, XM_047416842.1:c.-75del, XM_047416882.1:c.-75del

Select item 148988341811.

rs1489883418 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:1180473 (GRCh38)
1:1115853 (GRCh37)
Canonical SPDI:: NC_000001.11:1180472:C:A
Gene:: TTLL10 (Varview), TTLL10-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.1180473C>A, NC_000001.10:g.1115853C>A

Select item 148987315712.

rs1489873157 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:1179924 (GRCh38)
1:1115304 (GRCh37)
Canonical SPDI:: NC_000001.11:1179923:G:T
Gene:: TTLL10 (Varview), TTLL10-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000035/1 (TOMMO)
T=0.000343/1 (KOREAN)
T=0.001106/2 (Korea1K)
HGVS:: NC_000001.11:g.1179924G>T, NC_000001.10:g.1115304G>T

Select item 148986765213.

rs1489867652 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:1179689 (GRCh38)
1:1115069 (GRCh37)
Canonical SPDI:: NC_000001.11:1179688:C:A,NC_000001.11:1179688:C:T
Gene:: TTLL10 (Varview), TTLL10-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
T=0.000007/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.1179689C>A, NC_000001.11:g.1179689C>T, NC_000001.10:g.1115069C>A, NC_000001.10:g.1115069C>T, XM_017000910.3:c.529C>A, XM_017000910.3:c.529C>T, XM_017000910.2:c.151C>A, XM_017000910.2:c.151C>T, XM_017000910.1:c.151C>A, XM_017000910.1:c.151C>T, NM_153254.3:c.-185C>A, NM_153254.3:c.-185C>T, XM_017000909.2:c.529C>A, XM_017000909.2:c.529C>T, XM_017000909.1:c.151C>A, XM_017000909.1:c.151C>T, XM_017000912.2:c.151C>A, XM_017000912.2:c.151C>T, XM_017000912.1:c.151C>A, XM_017000912.1:c.151C>T, NM_001130045.2:c.151C>A, NM_001130045.2:c.151C>T, NM_001130045.1:c.151C>A, NM_001130045.1:c.151C>T, XM_017000907.2:c.529C>A, XM_017000907.2:c.529C>T, XM_017000907.1:c.151C>A, XM_017000907.1:c.151C>T, XM_017000908.2:c.529C>A, XM_017000908.2:c.529C>T, XM_017000908.1:c.151C>A, XM_017000908.1:c.151C>T, XM_005244738.2:c.-185C>A, XM_005244738.2:c.-185C>T, XM_005244738.1:c.-185C>A, XM_005244738.1:c.-185C>T, XM_047416841.1:c.529C>A, XM_047416841.1:c.529C>T, XM_047416843.1:c.529C>A, XM_047416843.1:c.529C>T, XM_047416842.1:c.439C>A, XM_047416842.1:c.439C>T, NM_001371649.1:c.151C>A, NM_001371649.1:c.151C>T, XM_047416870.1:c.151C>A, XM_047416870.1:c.151C>T, XM_047416882.1:c.529C>A, XM_047416882.1:c.529C>T, XP_016856399.2:p.Pro177Thr, XP_016856399.2:p.Pro177Ser, XP_016856398.2:p.Pro177Thr, XP_016856398.2:p.Pro177Ser, XP_016856401.1:p.Pro51Thr, XP_016856401.1:p.Pro51Ser, NP_001123517.1:p.Pro51Thr, NP_001123517.1:p.Pro51Ser, XP_016856396.2:p.Pro177Thr, XP_016856396.2:p.Pro177Ser, XP_016856397.2:p.Pro177Thr, XP_016856397.2:p.Pro177Ser, XP_047272797.1:p.Pro177Thr, XP_047272797.1:p.Pro177Ser, XP_047272799.1:p.Pro177Thr, XP_047272799.1:p.Pro177Ser, XP_047272798.1:p.Pro147Thr, XP_047272798.1:p.Pro147Ser, NP_001358578.1:p.Pro51Thr, NP_001358578.1:p.Pro51Ser, XP_047272826.1:p.Pro51Thr, XP_047272826.1:p.Pro51Ser, XP_047272838.1:p.Pro177Thr, XP_047272838.1:p.Pro177Ser

Select item 148963349014.

rs1489633490 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:1177215 (GRCh38)
1:1112595 (GRCh37)
Canonical SPDI:: NC_000001.11:1177214:T:C
Gene:: TTLL10 (Varview), TTLL10-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.1177215T>C, NC_000001.10:g.1112595T>C

Select item 148956103015.

rs1489561030 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:1173637 (GRCh38)
1:1109017 (GRCh37)
Canonical SPDI:: NC_000001.11:1173636:C:G
Gene:: TTLL10 (Varview), TTLL10-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.1173637C>G, NC_000001.10:g.1109017C>G, NR_173246.1:n.2951G>C

Select item 148935953716.

rs1489359537 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:1178291 (GRCh38)
1:1113671 (GRCh37)
Canonical SPDI:: NC_000001.11:1178290:G:C
Gene:: TTLL10 (Varview), TTLL10-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.1178291G>C, NC_000001.10:g.1113671G>C

Select item 148879560817.

rs1488795608 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:1176904 (GRCh38)
1:1112284 (GRCh37)
Canonical SPDI:: NC_000001.11:1176903:G:A
Gene:: TTLL10 (Varview), TTLL10-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.00003/8 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.1176904G>A, NC_000001.10:g.1112284G>A

Select item 148831037818.

rs1488310378 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:1180172 (GRCh38)
1:1115552 (GRCh37)
Canonical SPDI:: NC_000001.11:1180171:C:A,NC_000001.11:1180171:C:T
Gene:: TTLL10 (Varview), TTLL10-AS1 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.1180172C>A, NC_000001.11:g.1180172C>T, NC_000001.10:g.1115552C>A, NC_000001.10:g.1115552C>T, XM_017000910.3:c.716C>A, XM_017000910.3:c.716C>T, XM_017000910.2:c.338C>A, XM_017000910.2:c.338C>T, XM_017000910.1:c.338C>A, XM_017000910.1:c.338C>T, NM_153254.3:c.119C>A, NM_153254.3:c.119C>T, NM_153254.2:c.119C>A, NM_153254.2:c.119C>T, XM_017000906.2:c.635C>A, XM_017000906.2:c.635C>T, XM_017000906.1:c.257C>A, XM_017000906.1:c.257C>T, XM_017000909.2:c.716C>A, XM_017000909.2:c.716C>T, XM_017000909.1:c.338C>A, XM_017000909.1:c.338C>T, XM_017000912.2:c.338C>A, XM_017000912.2:c.338C>T, XM_017000912.1:c.338C>A, XM_017000912.1:c.338C>T, NM_001130045.2:c.338C>A, NM_001130045.2:c.338C>T, NM_001130045.1:c.338C>A, NM_001130045.1:c.338C>T, XM_017000907.2:c.716C>A, XM_017000907.2:c.716C>T, XM_017000907.1:c.338C>A, XM_017000907.1:c.338C>T, XM_017000908.2:c.716C>A, XM_017000908.2:c.716C>T, XM_017000908.1:c.338C>A, XM_017000908.1:c.338C>T, XM_005244738.2:c.119C>A, XM_005244738.2:c.119C>T, XM_005244738.1:c.119C>A, XM_005244738.1:c.119C>T, XM_047416841.1:c.716C>A, XM_047416841.1:c.716C>T, XM_047416843.1:c.716C>A, XM_047416843.1:c.716C>T, XM_047416842.1:c.626C>A, XM_047416842.1:c.626C>T, NM_001371649.1:c.338C>A, NM_001371649.1:c.338C>T, XM_047416870.1:c.338C>A, XM_047416870.1:c.338C>T, XM_047416882.1:c.716C>A, XM_047416882.1:c.716C>T, XP_016856399.2:p.Pro239His, XP_016856399.2:p.Pro239Leu, NP_694986.2:p.Pro40His, NP_694986.2:p.Pro40Leu, XP_016856395.2:p.Pro212His, XP_016856395.2:p.Pro212Leu, XP_016856398.2:p.Pro239His, XP_016856398.2:p.Pro239Leu, XP_016856401.1:p.Pro113His, XP_016856401.1:p.Pro113Leu, NP_001123517.1:p.Pro113His, NP_001123517.1:p.Pro113Leu, XP_016856396.2:p.Pro239His, XP_016856396.2:p.Pro239Leu, XP_016856397.2:p.Pro239His, XP_016856397.2:p.Pro239Leu, XP_005244795.1:p.Pro40His, XP_005244795.1:p.Pro40Leu, XP_047272797.1:p.Pro239His, XP_047272797.1:p.Pro239Leu, XP_047272799.1:p.Pro239His, XP_047272799.1:p.Pro239Leu, XP_047272798.1:p.Pro209His, XP_047272798.1:p.Pro209Leu, NP_001358578.1:p.Pro113His, NP_001358578.1:p.Pro113Leu, XP_047272826.1:p.Pro113His, XP_047272826.1:p.Pro113Leu, XP_047272838.1:p.Pro239His, XP_047272838.1:p.Pro239Leu

Select item 148737243519.

rs1487372435 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:1172578 (GRCh38)
1:1107958 (GRCh37)
Canonical SPDI:: NC_000001.11:1172577:T:C
Gene:: TTLL10 (Varview), TTLL10-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.1172578T>C, NC_000001.10:g.1107958T>C

Select item 148719061320.

rs1487190613 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:1178067 (GRCh38)
1:1113447 (GRCh37)
Canonical SPDI:: NC_000001.11:1178066:C:T
Gene:: TTLL10 (Varview), TTLL10-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000071/2 (TOMMO)
HGVS:: NC_000001.11:g.1178067C>T, NC_000001.10:g.1113447C>T

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