SNP Links for Gene (Select 503640) - SNP

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Select item 14913451131.

rs1491345113 has merged into rs60313146 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:32151891 (GRCh38)
17:30478910 (GRCh37)
Canonical SPDI:: NC_000017.11:32151881:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:32151881:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:32151881:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:32151881:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:32151881:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:32151881:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:32151881:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:32151881:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:32151881:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:32151881:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:32151881:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:32151881:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:32151881:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:32151881:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:32151881:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RHOT1 (Varview), ARGFXP2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.32151891_32151901del, NC_000017.11:g.32151892_32151901del, NC_000017.11:g.32151893_32151901del, NC_000017.11:g.32151895_32151901del, NC_000017.11:g.32151896_32151901del, NC_000017.11:g.32151898_32151901del, NC_000017.11:g.32151899_32151901del, NC_000017.11:g.32151900_32151901del, NC_000017.11:g.32151901del, NC_000017.11:g.32151901dup, NC_000017.11:g.32151900_32151901dup, NC_000017.11:g.32151899_32151901dup, NC_000017.11:g.32151898_32151901dup, NC_000017.11:g.32151897_32151901dup, NC_000017.11:g.32151889_32151901dup, NC_000017.10:g.30478910_30478920del, NC_000017.10:g.30478911_30478920del, NC_000017.10:g.30478912_30478920del, NC_000017.10:g.30478914_30478920del, NC_000017.10:g.30478915_30478920del, NC_000017.10:g.30478917_30478920del, NC_000017.10:g.30478918_30478920del, NC_000017.10:g.30478919_30478920del, NC_000017.10:g.30478920del, NC_000017.10:g.30478920dup, NC_000017.10:g.30478919_30478920dup, NC_000017.10:g.30478918_30478920dup, NC_000017.10:g.30478917_30478920dup, NC_000017.10:g.30478916_30478920dup, NC_000017.10:g.30478908_30478920dup

Select item 14912068102.

rs1491206810 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:32151881 (GRCh38)
17:30478900 (GRCh37)
Canonical SPDI:: NC_000017.11:32151880:CA:
Gene:: RHOT1 (Varview), ARGFXP2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000017.11:g.32151881_32151882del, NC_000017.10:g.30478900_30478901del

Select item 14908561313.

rs1490856131 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:32152889 (GRCh38)
17:30479908 (GRCh37)
Canonical SPDI:: NC_000017.11:32152888:G:A,NC_000017.11:32152888:G:C
Gene:: RHOT1 (Varview), ARGFXP2 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.32152889G>A, NC_000017.11:g.32152889G>C, NC_000017.10:g.30479908G>A, NC_000017.10:g.30479908G>C, XM_047436358.1:c.19G>A, XM_047436358.1:c.19G>C, XM_047436360.1:c.19G>A, XM_047436360.1:c.19G>C, XP_047292314.1:p.Asp7Asn, XP_047292314.1:p.Asp7His, XP_047292316.1:p.Asp7Asn, XP_047292316.1:p.Asp7His

Select item 14906676134.

rs1490667613 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:32152247 (GRCh38)
17:30479266 (GRCh37)
Canonical SPDI:: NC_000017.11:32152246:G:T
Gene:: RHOT1 (Varview), ARGFXP2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.32152247G>T, NC_000017.10:g.30479266G>T

Select item 14875576685.

rs1487557668 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:32151005 (GRCh38)
17:30478024 (GRCh37)
Canonical SPDI:: NC_000017.11:32151004:T:C
Gene:: RHOT1 (Varview), ARGFXP2 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_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_000017.11:g.32151005T>C, NC_000017.10:g.30478024T>C, NR_002222.1:n.567A>G

Select item 14873302506.

rs1487330250 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:32150921 (GRCh38)
17:30477940 (GRCh37)
Canonical SPDI:: NC_000017.11:32150920:C:T
Gene:: RHOT1 (Varview), ARGFXP2 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.32150921C>T, NC_000017.10:g.30477940C>T, NR_002222.1:n.651G>A

Select item 14855678127.

rs1485567812 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:32152902 (GRCh38)
17:30479921 (GRCh37)
Canonical SPDI:: NC_000017.11:32152901:C:G
Gene:: RHOT1 (Varview), ARGFXP2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,2KB_upstream_variant,intron_variant,genic_upstream_transcript_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)
HGVS:: NC_000017.11:g.32152902C>G, NC_000017.10:g.30479921C>G, XM_047436358.1:c.32C>G, XM_047436360.1:c.32C>G, XP_047292314.1:p.Ser11Ter, XP_047292316.1:p.Ser11Ter

Select item 14852135788.

rs1485213578 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:32152626 (GRCh38)
17:30479645 (GRCh37)
Canonical SPDI:: NC_000017.11:32152625:G:T
Gene:: RHOT1 (Varview), ARGFXP2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000017.11:g.32152626G>T, NC_000017.10:g.30479645G>T

Select item 14850045299.

rs1485004529 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:32150538 (GRCh38)
17:30477557 (GRCh37)
Canonical SPDI:: NC_000017.11:32150537:G:A
Gene:: RHOT1 (Varview), ARGFXP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.32150538G>A, NC_000017.10:g.30477557G>A, NR_002222.1:n.1034C>T

Select item 148491307610.

rs1484913076 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 17:32150695 (GRCh38)
17:30477714 (GRCh37)
Canonical SPDI:: NC_000017.11:32150694:A:G,NC_000017.11:32150694:A:T
Gene:: RHOT1 (Varview), ARGFXP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.32150695A>G, NC_000017.11:g.32150695A>T, NC_000017.10:g.30477714A>G, NC_000017.10:g.30477714A>T, NR_002222.1:n.877T>C, NR_002222.1:n.877T>A

Select item 148489705011.

rs1484897050 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:32150087 (GRCh38)
17:30477106 (GRCh37)
Canonical SPDI:: NC_000017.11:32150086:T:G
Gene:: RHOT1 (Varview), ARGFXP2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.32150087T>G, NC_000017.10:g.30477106T>G

Select item 148461217912.

rs1484612179 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:32150182 (GRCh38)
17:30477201 (GRCh37)
Canonical SPDI:: NC_000017.11:32150181:T:C
Gene:: RHOT1 (Varview), ARGFXP2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,genic_upstream_transcript_variant,intron_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_000017.11:g.32150182T>C, NC_000017.10:g.30477201T>C

Select item 148457822413.

rs1484578224 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:32151665 (GRCh38)
17:30478684 (GRCh37)
Canonical SPDI:: NC_000017.11:32151664:G:A
Gene:: RHOT1 (Varview), ARGFXP2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.32151665G>A, NC_000017.10:g.30478684G>A

Select item 148336900014.

rs1483369000 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:32151041 (GRCh38)
17:30478060 (GRCh37)
Canonical SPDI:: NC_000017.11:32151040:G:A
Gene:: RHOT1 (Varview), ARGFXP2 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.32151041G>A, NC_000017.10:g.30478060G>A, NR_002222.1:n.531C>T

Select item 148322400515.

rs1483224005 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:32149959 (GRCh38)
17:30476978 (GRCh37)
Canonical SPDI:: NC_000017.11:32149958:C:T
Gene:: RHOT1 (Varview), ARGFXP2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.32149959C>T, NC_000017.10:g.30476978C>T

Select item 148317118816.

rs1483171188 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:32150317 (GRCh38)
17:30477336 (GRCh37)
Canonical SPDI:: NC_000017.11:32150316:T:C
Gene:: RHOT1 (Varview), ARGFXP2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.32150317T>C, NC_000017.10:g.30477336T>C

Select item 148259301617.

rs1482593016 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 17:32151901 (GRCh38)
17:30478920 (GRCh37)
Canonical SPDI:: NC_000017.11:32151900:A:G,NC_000017.11:32151900:A:T
Gene:: RHOT1 (Varview), ARGFXP2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.32151901A>G, NC_000017.11:g.32151901A>T, NC_000017.10:g.30478920A>G, NC_000017.10:g.30478920A>T

Select item 148099805118.

rs1480998051 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:32151897 (GRCh38)
17:30478916 (GRCh37)
Canonical SPDI:: NC_000017.11:32151896:A:G
Gene:: RHOT1 (Varview), ARGFXP2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000071/2 (TOMMO)
HGVS:: NC_000017.11:g.32151897A>G, NC_000017.10:g.30478916A>G

Select item 147909344419.

rs1479093444 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:32150777 (GRCh38)
17:30477796 (GRCh37)
Canonical SPDI:: NC_000017.11:32150776:T:G
Gene:: RHOT1 (Varview), ARGFXP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000094/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.32150777T>G, NC_000017.10:g.30477796T>G, NR_002222.1:n.795A>C

Select item 147841716820.

rs1478417168 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:32150484 (GRCh38)
17:30477503 (GRCh37)
Canonical SPDI:: NC_000017.11:32150483:G:T
Gene:: RHOT1 (Varview), ARGFXP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.32150484G>T, NC_000017.10:g.30477503G>T, NR_002222.1:n.1088C>A

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