SNP Links for Gene (Select 100506797) - SNP

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Select item 14915547151.

rs1491554715 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCAC [Show Flanks]
Chromosome:: 2:118188322 (GRCh38)
2:118945899 (GRCh37)
Canonical SPDI:: NC_000002.12:118188322:GCAC:GCACGCAC
Gene:: THORLNC (Varview), LOC105373578 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: GCACGCAC=0./0 (ALFA)
GCAC=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.118188323_118188326dup, NC_000002.11:g.118945899_118945902dup

Select item 14913650252.

rs1491365025 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 2:118188322 (GRCh38)
2:118945898 (GRCh37)
Canonical SPDI:: NC_000002.12:118188321:TG:
Gene:: THORLNC (Varview), LOC105373578 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00003/3 (GnomAD)
HGVS:: NC_000002.12:g.118188322_118188323del, NC_000002.11:g.118945898_118945899del

Select item 14913542303.

rs1491354230 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:118183334 (GRCh38)
2:118940911 (GRCh37)
Canonical SPDI:: NC_000002.12:118183334::A
Gene:: THORLNC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000447/2 (ALFA)
A=0.000065/9 (GnomAD)
A=0.000446/2 (Estonian)
HGVS:: NC_000002.12:g.118183334_118183335insA, NC_000002.11:g.118940910_118940911insA

Select item 14895898094.

rs1489589809 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 2:118183127 (GRCh38)
2:118940703 (GRCh37)
Canonical SPDI:: NC_000002.12:118183126:TTT:TT
Gene:: THORLNC (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.118183129del, NC_000002.11:g.118940705del, NR_144530.1:n.405del

Select item 14890371075.

rs1489037107 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:118184154 (GRCh38)
2:118941730 (GRCh37)
Canonical SPDI:: NC_000002.12:118184153:C:T
Gene:: THORLNC (Varview)
Functional Consequence:: intron_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_000002.12:g.118184154C>T, NC_000002.11:g.118941730C>T

Select item 14880317486.

rs1488031748 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:118186419 (GRCh38)
2:118943995 (GRCh37)
Canonical SPDI:: NC_000002.12:118186418:G:A,NC_000002.12:118186418:G:T
Gene:: THORLNC (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.118186419G>A, NC_000002.12:g.118186419G>T, NC_000002.11:g.118943995G>A, NC_000002.11:g.118943995G>T

Select item 14879874907.

rs1487987490 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:118183238 (GRCh38)
2:118940814 (GRCh37)
Canonical SPDI:: NC_000002.12:118183237:A:G
Gene:: THORLNC (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000212/4 (TOMMO)
HGVS:: NC_000002.12:g.118183238A>G, NC_000002.11:g.118940814A>G, NR_144530.1:n.294T>C

Select item 14866518908.

rs1486651890 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:118185400 (GRCh38)
2:118942976 (GRCh37)
Canonical SPDI:: NC_000002.12:118185399:T:C
Gene:: THORLNC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.118185400T>C, NC_000002.11:g.118942976T>C

Select item 14855584409.

rs1485558440 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:118184741 (GRCh38)
2:118942317 (GRCh37)
Canonical SPDI:: NC_000002.12:118184740:T:C
Gene:: THORLNC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.118184741T>C, NC_000002.11:g.118942317T>C

Select item 148543958210.

rs1485439582 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 2:118184771 (GRCh38)
2:118942347 (GRCh37)
Canonical SPDI:: NC_000002.12:118184770:T:A,NC_000002.12:118184770:T:G
Gene:: THORLNC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.118184771T>A, NC_000002.12:g.118184771T>G, NC_000002.11:g.118942347T>A, NC_000002.11:g.118942347T>G

Select item 148480621311.

rs1484806213 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:118188009 (GRCh38)
2:118945585 (GRCh37)
Canonical SPDI:: NC_000002.12:118188008:G:C
Gene:: THORLNC (Varview), LOC105373578 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.118188009G>C, NC_000002.11:g.118945585G>C, XR_923249.3:n.3365C>G, XR_923249.2:n.611C>G, XR_923249.1:n.1202C>G, XR_923250.3:n.609C>G, XR_923250.2:n.609C>G, XR_923250.1:n.1262C>G, XR_001739664.2:n.930C>G, XR_001739664.1:n.954C>G

Select item 148469649312.

rs1484696493 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:118184309 (GRCh38)
2:118941885 (GRCh37)
Canonical SPDI:: NC_000002.12:118184308:A:G
Gene:: THORLNC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.118184309A>G, NC_000002.11:g.118941885A>G

Select item 148460017413.

rs1484600174 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:118185507 (GRCh38)
2:118943083 (GRCh37)
Canonical SPDI:: NC_000002.12:118185506:T:C
Gene:: THORLNC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.118185507T>C, NC_000002.11:g.118943083T>C

Select item 148405422514.

rs1484054225 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:118187047 (GRCh38)
2:118944623 (GRCh37)
Canonical SPDI:: NC_000002.12:118187046:A:G
Gene:: THORLNC (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.118187047A>G, NC_000002.11:g.118944623A>G

Select item 148390017315.

rs1483900173 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:118184131 (GRCh38)
2:118941707 (GRCh37)
Canonical SPDI:: NC_000002.12:118184130:C:T
Gene:: THORLNC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.118184131C>T, NC_000002.11:g.118941707C>T

Select item 148353551216.

rs1483535512 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:118186307 (GRCh38)
2:118943883 (GRCh37)
Canonical SPDI:: NC_000002.12:118186306:T:G
Gene:: THORLNC (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.118186307T>G, NC_000002.11:g.118943883T>G, NR_144530.1:n.80A>C

Select item 148328807317.

rs1483288073 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:118186907 (GRCh38)
2:118944483 (GRCh37)
Canonical SPDI:: NC_000002.12:118186906:C:G
Gene:: THORLNC (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.118186907C>G, NC_000002.11:g.118944483C>G

Select item 148328183418.

rs1483281834 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:118186456 (GRCh38)
2:118944032 (GRCh37)
Canonical SPDI:: NC_000002.12:118186455:C:G
Gene:: THORLNC (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.118186456C>G, NC_000002.11:g.118944032C>G

Select item 148295559219.

rs1482955592 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:118186131 (GRCh38)
2:118943707 (GRCh37)
Canonical SPDI:: NC_000002.12:118186130:G:A
Gene:: THORLNC (Varview)
Functional Consequence:: 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_000002.12:g.118186131G>A, NC_000002.11:g.118943707G>A

Select item 148221214120.

rs1482212141 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:118186490 (GRCh38)
2:118944066 (GRCh37)
Canonical SPDI:: NC_000002.12:118186489:C:T
Gene:: THORLNC (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.118186490C>T, NC_000002.11:g.118944066C>T

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