SNP Links for Gene (Select 7059) - SNP

Select item 14915740701.

rs1491574070 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:155204584 (GRCh38)
1:155174376 (GRCh37)
Canonical SPDI:: NC_000001.11:155204584::A
Gene:: THBS3 (Varview), THBS3-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.155204584_155204585insA, NC_000001.10:g.155174375_155174376insA, NG_047083.1:g.9596_9597insT

Select item 14914113682.

rs1491411368 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:155202337 (GRCh38)
1:155172128 (GRCh37)
Canonical SPDI:: NC_000001.11:155202334:CACA:CA
Gene:: THBS3 (Varview), THBS3-AS1 (Varview)
Functional Consequence:: intron_variant,inframe_indel,coding_sequence_variant,stop_gained,non_coding_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.155202335CA[1], NC_000001.10:g.155172126CA[1], NG_047083.1:g.11843TG[1], NM_007112.5:c.1023_1024del, NM_007112.4:c.1023_1024del, NR_045553.2:n.946TG[1], NR_045553.1:n.1030TG[1], NM_001252607.2:c.996_997del, NM_001252607.1:c.996_997del, NM_001252608.2:c.663_664del, NM_001252608.1:c.663_664del, NM_001407490.1:c.1194_1195del, NM_001407557.1:c.909_910del, NM_001407559.1:c.486_487del, NM_001407556.1:c.909_910del, NR_176392.1:n.1042TG[1], NM_001407561.1:c.258_259del, NM_001407558.1:c.909_910del, NR_176393.1:n.1042TG[1], NM_001407487.1:c.1023_1024del, NM_001407562.1:c.156_157del, NM_001407560.1:c.258_259del, NM_001407554.1:c.933_934del, NM_001407555.1:c.1023_1024del, NM_001407488.1:c.1023_1024del, XR_922168.4:n.3184CA[1], XM_006711498.4:c.1194_1195del, XR_922166.4:n.2202CA[1], XR_922164.3:n.2859CA[1], XR_922163.3:n.2784CA[1], XM_011509926.3:c.1194_1195del, XM_011509926.2:c.1194_1195del, XM_011509926.1:c.1194_1195del, XM_011509927.3:c.1167_1168del, XM_011509927.2:c.1167_1168del, XM_011509927.1:c.1167_1168del, XM_011509928.3:c.1101_1102del, XM_011509928.2:c.1101_1102del, XM_011509928.1:c.1101_1102del, XM_011509930.3:c.1194_1195del, XM_011509930.2:c.1194_1195del, XM_011509930.1:c.1194_1195del, XM_011509929.3:c.1023_1024del, XM_011509932.3:c.909_910del, XM_011509932.2:c.909_910del, XM_011509932.1:c.909_910del, XR_001738241.2:n.2578CA[1], XM_011509931.2:c.909_910del, XM_011509931.1:c.909_910del, XR_002957482.2:n.1869TG[1], XR_002957482.1:n.2685TG[1], XM_011509936.2:c.258_259del, XM_011509936.1:c.258_259del, XR_007066643.1:n.2788CA[1], XR_007066646.1:n.2589CA[1], XM_047429292.1:c.1167_1168del, XR_007066641.1:n.2535CA[1], XR_007066645.1:n.2513CA[1], XM_047429301.1:c.1194_1195del, XR_007066648.1:n.2368CA[1], XR_007066644.1:n.1812CA[1], XM_047429305.1:c.909_910del, XM_047429308.1:c.1194_1195del, XM_047429306.1:c.1023_1024del, XM_047429322.1:c.1194_1195del, XM_047429324.1:c.1194_1195del, XM_047429323.1:c.1194_1195del, XM_047429326.1:c.1194_1195del, NP_009043.1:p.Cys341_Glu342delinsTer, NP_001239536.1:p.Cys332_Glu333delinsTer, NP_001239537.1:p.Cys221_Glu222delinsTer, XP_006711561.1:p.Cys398_Glu399delinsTer, XP_011508228.1:p.Cys398_Glu399delinsTer, XP_011508229.1:p.Cys389_Glu390delinsTer, XP_011508230.1:p.Cys367_Glu368delinsTer, XP_011508232.1:p.Cys398_Glu399delinsTer, XP_011508231.1:p.Cys341_Glu342delinsTer, XP_011508234.1:p.Cys303_Glu304delinsTer, XP_011508233.1:p.Cys303_Glu304delinsTer, XP_011508238.1:p.Cys86_Glu87delinsTer, XP_047285248.1:p.Cys389_Glu390delinsTer, XP_047285257.1:p.Cys398_Glu399delinsTer, XP_047285261.1:p.Cys303_Glu304delinsTer, XP_047285264.1:p.Cys398_Glu399delinsTer, XP_047285262.1:p.Cys341_Glu342delinsTer, XP_047285278.1:p.Cys398_Glu399delinsTer, XP_047285280.1:p.Cys398_Glu399delinsTer, XP_047285279.1:p.Cys398_Glu399delinsTer, XP_047285282.1:p.Cys398_Glu399delinsTer

Select item 14912467843.

rs1491246784 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 1:155204584 (GRCh38)
1:155174375 (GRCh37)
Canonical SPDI:: NC_000001.11:155204583:CC:
Gene:: THBS3 (Varview), THBS3-AS1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.155204584_155204585del, NC_000001.10:g.155174375_155174376del, NG_047083.1:g.9596_9597del

Select item 14909555354.

rs1490955535 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:155200054 (GRCh38)
1:155169845 (GRCh37)
Canonical SPDI:: NC_000001.11:155200053:C:G,NC_000001.11:155200053:C:T
Gene:: THBS3 (Varview), THBS3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,missense_variant
Validated:: by cluster
HGVS:: NC_000001.11:g.155200054C>G, NC_000001.11:g.155200054C>T, NC_000001.10:g.155169845C>G, NC_000001.10:g.155169845C>T, NG_047083.1:g.14127G>C, NG_047083.1:g.14127G>A, NM_007112.5:c.1768G>C, NM_007112.5:c.1768G>A, NM_007112.4:c.1768G>C, NM_007112.4:c.1768G>A, NR_045553.2:n.1773G>C, NR_045553.2:n.1773G>A, NR_045553.1:n.1857G>C, NR_045553.1:n.1857G>A, NM_001252607.2:c.1741G>C, NM_001252607.2:c.1741G>A, NM_001252607.1:c.1741G>C, NM_001252607.1:c.1741G>A, NM_001252608.2:c.1408G>C, NM_001252608.2:c.1408G>A, NM_001252608.1:c.1408G>C, NM_001252608.1:c.1408G>A, NM_001407490.1:c.1939G>C, NM_001407490.1:c.1939G>A, NM_001407557.1:c.1654G>C, NM_001407557.1:c.1654G>A, NM_001407559.1:c.1231G>C, NM_001407559.1:c.1231G>A, NM_001407556.1:c.1654G>C, NM_001407556.1:c.1654G>A, NR_176392.1:n.1869G>C, NR_176392.1:n.1869G>A, NM_001407561.1:c.1003G>C, NM_001407561.1:c.1003G>A, NM_001407558.1:c.1543G>C, NM_001407558.1:c.1543G>A, NR_176393.1:n.1789G>C, NR_176393.1:n.1789G>A, NM_001407487.1:c.1768G>C, NM_001407487.1:c.1768G>A, NM_001407562.1:c.901G>C, NM_001407562.1:c.901G>A, NM_001407560.1:c.1003G>C, NM_001407560.1:c.1003G>A, NM_001407554.1:c.1678G>C, NM_001407554.1:c.1678G>A, NM_001407555.1:c.1657G>C, NM_001407555.1:c.1657G>A, NM_001407488.1:c.1768G>C, NM_001407488.1:c.1768G>A, XM_006711498.4:c.1939G>C, XM_006711498.4:c.1939G>A, XM_011509926.3:c.1939G>C, XM_011509926.3:c.1939G>A, XM_011509926.2:c.1939G>C, XM_011509926.2:c.1939G>A, XM_011509926.1:c.1939G>C, XM_011509926.1:c.1939G>A, XM_011509927.3:c.1912G>C, XM_011509927.3:c.1912G>A, XM_011509927.2:c.1912G>C, XM_011509927.2:c.1912G>A, XM_011509927.1:c.1912G>C, XM_011509927.1:c.1912G>A, XM_011509928.3:c.1846G>C, XM_011509928.3:c.1846G>A, XM_011509928.2:c.1846G>C, XM_011509928.2:c.1846G>A, XM_011509928.1:c.1846G>C, XM_011509928.1:c.1846G>A, XM_011509930.3:c.1939G>C, XM_011509930.3:c.1939G>A, XM_011509930.2:c.1939G>C, XM_011509930.2:c.1939G>A, XM_011509930.1:c.1939G>C, XM_011509930.1:c.1939G>A, XM_011509929.3:c.1768G>C, XM_011509929.3:c.1768G>A, XM_011509932.3:c.1654G>C, XM_011509932.3:c.1654G>A, XM_011509932.2:c.1654G>C, XM_011509932.2:c.1654G>A, XM_011509932.1:c.1654G>C, XM_011509932.1:c.1654G>A, XM_011509931.2:c.1654G>C, XM_011509931.2:c.1654G>A, XM_011509931.1:c.1654G>C, XM_011509931.1:c.1654G>A, XR_002957482.2:n.2456G>C, XR_002957482.2:n.2456G>A, XR_002957482.1:n.3272G>C, XR_002957482.1:n.3272G>A, XM_011509936.2:c.1003G>C, XM_011509936.2:c.1003G>A, XM_011509936.1:c.1003G>C, XM_011509936.1:c.1003G>A, XM_047429292.1:c.1912G>C, XM_047429292.1:c.1912G>A, XM_047429301.1:c.1939G>C, XM_047429301.1:c.1939G>A, XM_047429305.1:c.1654G>C, XM_047429305.1:c.1654G>A, XM_047429308.1:c.1939G>C, XM_047429308.1:c.1939G>A, XM_047429306.1:c.1768G>C, XM_047429306.1:c.1768G>A, XM_047429322.1:c.1939G>C, XM_047429322.1:c.1939G>A, XM_047429324.1:c.1779G>C, XM_047429324.1:c.1779G>A, XM_047429323.1:c.1779G>C, XM_047429323.1:c.1779G>A, NP_009043.1:p.Asp590His, NP_009043.1:p.Asp590Asn, NP_001239536.1:p.Asp581His, NP_001239536.1:p.Asp581Asn, NP_001239537.1:p.Asp470His, NP_001239537.1:p.Asp470Asn, XP_006711561.1:p.Asp647His, XP_006711561.1:p.Asp647Asn, XP_011508228.1:p.Asp647His, XP_011508228.1:p.Asp647Asn, XP_011508229.1:p.Asp638His, XP_011508229.1:p.Asp638Asn, XP_011508230.1:p.Asp616His, XP_011508230.1:p.Asp616Asn, XP_011508232.1:p.Asp647His, XP_011508232.1:p.Asp647Asn, XP_011508231.1:p.Asp590His, XP_011508231.1:p.Asp590Asn, XP_011508234.1:p.Asp552His, XP_011508234.1:p.Asp552Asn, XP_011508233.1:p.Asp552His, XP_011508233.1:p.Asp552Asn, XP_011508238.1:p.Asp335His, XP_011508238.1:p.Asp335Asn, XP_047285248.1:p.Asp638His, XP_047285248.1:p.Asp638Asn, XP_047285257.1:p.Asp647His, XP_047285257.1:p.Asp647Asn, XP_047285261.1:p.Asp552His, XP_047285261.1:p.Asp552Asn, XP_047285264.1:p.Asp647His, XP_047285264.1:p.Asp647Asn, XP_047285262.1:p.Asp590His, XP_047285262.1:p.Asp590Asn, XP_047285278.1:p.Asp647His, XP_047285278.1:p.Asp647Asn

Select item 14908091785.

rs1490809178 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:155209208 (GRCh38)
1:155178999 (GRCh37)
Canonical SPDI:: NC_000001.11:155209207:C:A,NC_000001.11:155209207:C:T
Gene:: MTX1 (Varview), THBS3 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000029/4 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.155209208C>A, NC_000001.11:g.155209208C>T, NC_000001.10:g.155178999C>A, NC_000001.10:g.155178999C>T, NG_047083.1:g.4973G>T, NG_047083.1:g.4973G>A, NM_002455.5:c.404C>A, NM_002455.5:c.404C>T, NM_002455.4:c.404C>A, NM_002455.4:c.404C>T, NM_002455.3:c.404C>A, NM_002455.3:c.404C>T, NM_198883.3:c.404C>A, NM_198883.3:c.404C>T, NM_198883.2:c.404C>A, NM_198883.2:c.404C>T, NP_002446.3:p.Ala135Glu, NP_002446.3:p.Ala135Val, NP_942584.2:p.Ala135Glu, NP_942584.2:p.Ala135Val

Select item 14907089496.

rs1490708949 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:155207662 (GRCh38)
1:155177453 (GRCh37)
Canonical SPDI:: NC_000001.11:155207661:G:A
Gene:: MTX1 (Varview), THBS3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.155207662G>A, NC_000001.10:g.155177453G>A, NG_047083.1:g.6519C>T, NM_001407490.1:c.-442C>T, XM_006711498.4:c.-442C>T, XM_011509926.3:c.-442C>T, XM_011509926.2:c.-442C>T, XM_011509926.1:c.-442C>T, XM_011509927.3:c.-442C>T, XM_011509927.2:c.-442C>T, XM_011509927.1:c.-442C>T, XM_011509928.3:c.-442C>T, XM_011509928.2:c.-442C>T, XM_011509928.1:c.-442C>T, XM_011509930.3:c.-442C>T, XM_011509930.2:c.-442C>T, XM_011509930.1:c.-442C>T, XR_002957482.2:n.236C>T, XR_002957482.1:n.1052C>T, XM_047429292.1:c.-442C>T, XM_047429301.1:c.-442C>T, XM_047429308.1:c.-442C>T, XM_047429322.1:c.-442C>T, XM_047429324.1:c.-442C>T, XM_047429323.1:c.-442C>T, XM_047429326.1:c.-442C>T

Select item 14906719807.

rs1490671980 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:155199697 (GRCh38)
1:155169488 (GRCh37)
Canonical SPDI:: NC_000001.11:155199696:G:T
Gene:: THBS3 (Varview), THBS3-AS1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_downstream_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_000001.11:g.155199697G>T, NC_000001.10:g.155169488G>T, NG_047083.1:g.14484C>A

Select item 14905238998.

rs1490523899 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:155201083 (GRCh38)
1:155170874 (GRCh37)
Canonical SPDI:: NC_000001.11:155201082:G:A
Gene:: THBS3 (Varview), THBS3-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_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_000001.11:g.155201083G>A, NC_000001.10:g.155170874G>A, NG_047083.1:g.13098C>T, XR_922168.4:n.1932G>A, XR_922166.4:n.950G>A, XR_922164.3:n.1607G>A, XR_922163.3:n.1532G>A, XR_001738241.2:n.1326G>A, XR_007066643.1:n.1536G>A, XR_007066646.1:n.1337G>A, XR_007066641.1:n.1283G>A, XR_007066645.1:n.1261G>A, XR_007066648.1:n.1116G>A

Select item 14903178059.

rs1490317805 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:155209636 (GRCh38)
1:155179427 (GRCh37)
Canonical SPDI:: NC_000001.11:155209635:T:C
Gene:: MTX1 (Varview), THBS3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000001.11:g.155209636T>C, NC_000001.10:g.155179427T>C, NG_047083.1:g.4545A>G

Select item 149016448910.

rs1490164489 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:155208621 (GRCh38)
1:155178412 (GRCh37)
Canonical SPDI:: NC_000001.11:155208620:C:T
Gene:: MTX1 (Varview), THBS3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.155208621C>T, NC_000001.10:g.155178412C>T, NG_047083.1:g.5560G>A

Select item 148979212011.

rs1489792120 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:155198499 (GRCh38)
1:155168290 (GRCh37)
Canonical SPDI:: NC_000001.11:155198498:C:T
Gene:: THBS3 (Varview), THBS3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,downstream_transcript_variant,non_coding_transcript_variant,missense_variant
HGVS:: NC_000001.11:g.155198499C>T, NC_000001.10:g.155168290C>T, NG_047083.1:g.15682G>A, NM_007112.5:c.1984G>A, NM_007112.4:c.1984G>A, NR_045553.2:n.1989G>A, NR_045553.1:n.2073G>A, NM_001252607.2:c.1957G>A, NM_001252607.1:c.1957G>A, NM_001252608.2:c.1624G>A, NM_001252608.1:c.1624G>A, NM_001407490.1:c.2155G>A, NM_001407557.1:c.1870G>A, NM_001407559.1:c.1447G>A, NM_001407556.1:c.1870G>A, NR_176392.1:n.2085G>A, NM_001407561.1:c.1219G>A, NM_001407558.1:c.1759G>A, NR_176393.1:n.2005G>A, NM_001407487.1:c.1993G>A, NM_001407562.1:c.1117G>A, NM_001407560.1:c.1219G>A, NM_001407554.1:c.1894G>A, NM_001407555.1:c.1873G>A, NM_001407488.1:c.1984G>A, XR_922168.4:n.901C>T, XR_922168.3:n.1341C>T, XR_922168.2:n.163C>T, XR_922168.1:n.181C>T, XM_006711498.4:c.2155G>A, XR_922166.4:n.307C>T, XR_922166.3:n.307C>T, XR_922166.2:n.242C>T, XR_922166.1:n.307C>T, XR_922164.3:n.964C>T, XR_922164.2:n.1210C>T, XR_922164.1:n.1121C>T, XR_922163.3:n.889C>T, XR_922163.2:n.1080C>T, XR_922163.1:n.991C>T, XM_011509926.3:c.2164G>A, XM_011509926.2:c.2164G>A, XM_011509926.1:c.2164G>A, XM_011509927.3:c.2137G>A, XM_011509927.2:c.2137G>A, XM_011509927.1:c.2137G>A, XM_011509928.3:c.2071G>A, XM_011509928.2:c.2071G>A, XM_011509928.1:c.2071G>A, XM_011509930.3:c.2164G>A, XM_011509930.2:c.2164G>A, XM_011509930.1:c.2164G>A, XM_011509929.3:c.1993G>A, XM_011509932.3:c.1879G>A, XM_011509932.2:c.1879G>A, XM_011509932.1:c.1879G>A, XR_001738241.2:n.683C>T, XR_001738241.1:n.528C>T, XM_011509931.2:c.1879G>A, XM_011509931.1:c.1879G>A, XM_011509936.2:c.1228G>A, XM_011509936.1:c.1228G>A, XR_007066643.1:n.893C>T, XR_007066646.1:n.834C>T, XM_047429292.1:c.2128G>A, XR_007066641.1:n.640C>T, XM_047429301.1:c.2155G>A, XR_007066648.1:n.473C>T, XR_007066644.1:n.834C>T, XM_047429305.1:c.1879G>A, XM_047429308.1:c.2151G>A, XM_047429306.1:c.1984G>A, XR_007066639.1:n.1587C>T, XR_007066640.1:n.882C>T, XR_007066642.1:n.640C>T, NP_009043.1:p.Asp662Asn, NP_001239536.1:p.Asp653Asn, NP_001239537.1:p.Asp542Asn, XP_006711561.1:p.Asp719Asn, XP_011508228.1:p.Asp722Asn, XP_011508229.1:p.Asp713Asn, XP_011508230.1:p.Asp691Asn, XP_011508232.1:p.Asp722Asn, XP_011508231.1:p.Asp665Asn, XP_011508234.1:p.Asp627Asn, XP_011508233.1:p.Asp627Asn, XP_011508238.1:p.Asp410Asn, XP_047285248.1:p.Asp710Asn, XP_047285257.1:p.Asp719Asn, XP_047285261.1:p.Asp627Asn, XP_047285262.1:p.Asp662Asn

Select item 148953874112.

rs1489538741 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:155202453 (GRCh38)
1:155172244 (GRCh37)
Canonical SPDI:: NC_000001.11:155202452:G:A
Gene:: THBS3 (Varview), THBS3-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.155202453G>A, NC_000001.10:g.155172244G>A, NG_047083.1:g.11728C>T, XR_922168.4:n.3302G>A, XR_922166.4:n.2320G>A, XR_922164.3:n.2977G>A, XR_922163.3:n.2902G>A, XR_001738241.2:n.2696G>A, XR_007066643.1:n.2906G>A, XR_007066646.1:n.2707G>A, XR_007066641.1:n.2653G>A, XR_007066645.1:n.2631G>A, XR_007066648.1:n.2486G>A, XR_007066644.1:n.1930G>A

Select item 148862842913.

rs1488628429 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:155207955 (GRCh38)
1:155177746 (GRCh37)
Canonical SPDI:: NC_000001.11:155207954:G:C
Gene:: MTX1 (Varview), THBS3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.155207955G>C, NC_000001.10:g.155177746G>C, NG_047083.1:g.6226C>G, NM_007112.4:c.-79C>G, NR_045553.1:n.27C>G, NM_001252607.1:c.-79C>G, NM_001252608.1:c.-79C>G

Select item 148853506014.

rs1488535060 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:155206899 (GRCh38)
1:155176690 (GRCh37)
Canonical SPDI:: NC_000001.11:155206898:G:A
Gene:: MTX1 (Varview), THBS3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.155206899G>A, NC_000001.10:g.155176690G>A, NG_047083.1:g.7282C>T

Select item 148853041415.

rs1488530414 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:155195555 (GRCh38)
1:155165346 (GRCh37)
Canonical SPDI:: NC_000001.11:155195554:C:T
Gene:: THBS3 (Varview), MIR92B (Varview), THBS3-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,upstream_transcript_variant,downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.155195555C>T, NC_000001.10:g.155165346C>T, NG_047083.1:g.18626G>A

Select item 148843033616.

rs1488430336 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:155197850 (GRCh38)
1:155167641 (GRCh37)
Canonical SPDI:: NC_000001.11:155197849:A:T
Gene:: THBS3 (Varview), THBS3-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.155197850A>T, NC_000001.10:g.155167641A>T, NG_047083.1:g.16331T>A, XR_922166.4:n.96A>T, XR_922166.3:n.96A>T, XR_922166.2:n.31A>T, XR_922166.1:n.96A>T, XR_922164.3:n.753A>T, XR_922164.2:n.999A>T, XR_922164.1:n.910A>T, XR_007066639.1:n.1376A>T

Select item 148830250217.

rs1488302502 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:155198079 (GRCh38)
1:155167870 (GRCh37)
Canonical SPDI:: NC_000001.11:155198078:T:A
Gene:: THBS3 (Varview), THBS3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.155198079T>A, NC_000001.10:g.155167870T>A, NG_047083.1:g.16102A>T, NM_007112.5:c.2216A>T, NM_007112.4:c.2216A>T, NR_045553.2:n.2221A>T, NR_045553.1:n.2305A>T, NM_001252607.2:c.2189A>T, NM_001252607.1:c.2189A>T, NM_001252608.2:c.1856A>T, NM_001252608.1:c.1856A>T, NM_001407490.1:c.2387A>T, NM_001407557.1:c.2102A>T, NM_001407559.1:c.1679A>T, NM_001407556.1:c.2102A>T, NR_176392.1:n.2317A>T, NM_001407561.1:c.1451A>T, NM_001407558.1:c.1991A>T, NR_176393.1:n.2278A>T, NM_001407487.1:c.2225A>T, NM_001407562.1:c.1349A>T, NM_001407560.1:c.1451A>T, NM_001407554.1:c.2126A>T, NM_001407555.1:c.2105A>T, NM_001407488.1:c.2216A>T, XM_006711498.4:c.2387A>T, XM_011509926.3:c.2396A>T, XM_011509926.2:c.2396A>T, XM_011509926.1:c.2396A>T, XM_011509927.3:c.2369A>T, XM_011509927.2:c.2369A>T, XM_011509927.1:c.2369A>T, XM_011509928.3:c.2303A>T, XM_011509928.2:c.2303A>T, XM_011509928.1:c.2303A>T, XM_011509930.3:c.2396A>T, XM_011509930.2:c.2396A>T, XM_011509930.1:c.2396A>T, XM_011509929.3:c.2225A>T, XM_011509932.3:c.2111A>T, XM_011509932.2:c.2111A>T, XM_011509932.1:c.2111A>T, XM_011509931.2:c.2111A>T, XM_011509931.1:c.2111A>T, XM_011509936.2:c.1460A>T, XM_011509936.1:c.1460A>T, XM_047429292.1:c.2360A>T, XM_047429301.1:c.2387A>T, XM_047429305.1:c.2111A>T, XM_047429306.1:c.2216A>T, NP_009043.1:p.Asp739Val, NP_001239536.1:p.Asp730Val, NP_001239537.1:p.Asp619Val, XP_006711561.1:p.Asp796Val, XP_011508228.1:p.Asp799Val, XP_011508229.1:p.Asp790Val, XP_011508230.1:p.Asp768Val, XP_011508232.1:p.Asp799Val, XP_011508231.1:p.Asp742Val, XP_011508234.1:p.Asp704Val, XP_011508233.1:p.Asp704Val, XP_011508238.1:p.Asp487Val, XP_047285248.1:p.Asp787Val, XP_047285257.1:p.Asp796Val, XP_047285261.1:p.Asp704Val, XP_047285262.1:p.Asp739Val

Select item 148824746818.

rs1488247468 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:155203662 (GRCh38)
1:155173453 (GRCh37)
Canonical SPDI:: NC_000001.11:155203661:T:C
Gene:: THBS3 (Varview), THBS3-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000071/10 (GnomAD)
C=0.000132/35 (TOPMED)
HGVS:: NC_000001.11:g.155203662T>C, NC_000001.10:g.155173453T>C, NG_047083.1:g.10519A>G

Select item 148794339419.

rs1487943394 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:155203016 (GRCh38)
1:155172807 (GRCh37)
Canonical SPDI:: NC_000001.11:155203015:G:A
Gene:: THBS3 (Varview), THBS3-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.155203016G>A, NC_000001.10:g.155172807G>A, NG_047083.1:g.11165C>T, XR_922168.4:n.3865G>A, XR_922166.4:n.2883G>A, XR_922164.3:n.3540G>A, XR_922163.3:n.3465G>A, XR_001738241.2:n.3259G>A, XR_007066643.1:n.3469G>A, XR_007066646.1:n.3270G>A, XR_007066641.1:n.3216G>A, XR_007066645.1:n.3194G>A, XR_007066648.1:n.3049G>A, XR_007066644.1:n.2493G>A

Select item 148789618720.

rs1487896187 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:155196029 (GRCh38)
1:155165820 (GRCh37)
Canonical SPDI:: NC_000001.11:155196028:G:T
Gene:: THBS3 (Varview), THBS3-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.155196029G>T, NC_000001.10:g.155165820G>T, NG_047083.1:g.18152C>A, NM_007112.5:c.2770C>A, NM_007112.4:c.2770C>A, NR_045553.2:n.2775C>A, NR_045553.1:n.2859C>A, NM_001252607.2:c.2743C>A, NM_001252607.1:c.2743C>A, NM_001252608.2:c.2410C>A, NM_001252608.1:c.2410C>A, NM_001407490.1:c.2941C>A, NM_001407557.1:c.2656C>A, NM_001407559.1:c.2233C>A, NM_001407556.1:c.2656C>A, NR_176392.1:n.2871C>A, NM_001407561.1:c.2005C>A, NM_001407558.1:c.2545C>A, NR_176393.1:n.2832C>A, NM_001407487.1:c.2779C>A, NM_001407562.1:c.1903C>A, NM_001407560.1:c.2005C>A, NM_001407554.1:c.2680C>A, NM_001407555.1:c.2659C>A, XM_006711498.4:c.2941C>A, XM_011509926.3:c.2950C>A, XM_011509926.2:c.2950C>A, XM_011509926.1:c.2950C>A, XM_011509927.3:c.2923C>A, XM_011509927.2:c.2923C>A, XM_011509927.1:c.2923C>A, XM_011509928.3:c.2857C>A, XM_011509928.2:c.2857C>A, XM_011509928.1:c.2857C>A, XM_011509929.3:c.2779C>A, XM_011509932.3:c.2665C>A, XM_011509932.2:c.2665C>A, XM_011509932.1:c.2665C>A, XM_011509931.2:c.2665C>A, XM_011509931.1:c.2665C>A, XM_011509936.2:c.2014C>A, XM_011509936.1:c.2014C>A, XM_047429292.1:c.2914C>A, XM_047429305.1:c.2665C>A, NP_009043.1:p.Gln924Lys, NP_001239536.1:p.Gln915Lys, NP_001239537.1:p.Gln804Lys, XP_006711561.1:p.Gln981Lys, XP_011508228.1:p.Gln984Lys, XP_011508229.1:p.Gln975Lys, XP_011508230.1:p.Gln953Lys, XP_011508231.1:p.Gln927Lys, XP_011508234.1:p.Gln889Lys, XP_011508233.1:p.Gln889Lys, XP_011508238.1:p.Gln672Lys, XP_047285248.1:p.Gln972Lys, XP_047285261.1:p.Gln889Lys

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 4100

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Gene

Items: 1 to 20 of 4100

Page of 205

Page of 205

Display Settings:

Supplemental Content

Find related data

Recent activity