SNP Links for Gene (Select 116093) - SNP

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Select item 14915650261.

rs1491565026 has merged into rs1229665385 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA [Show Flanks]
Chromosome:: 2:188789278 (GRCh38)
2:189654005 (GRCh37)
Canonical SPDI:: NC_000002.12:188789271:TATATATATA:TATATA,NC_000002.12:188789271:TATATATATA:TATATATA,NC_000002.12:188789271:TATATATATA:TATATATATATA
Gene:: DIRC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATA=0./0 (ALFA)
-=0.00004/1 (TOMMO)
HGVS:: NC_000002.12:g.188789272TA[3], NC_000002.12:g.188789272TA[4], NC_000002.12:g.188789272TA[6], NC_000002.11:g.189653999TA[3], NC_000002.11:g.189653999TA[4], NC_000002.11:g.189653999TA[6], NG_027691.1:g.5824TA[3], NG_027691.1:g.5824TA[4], NG_027691.1:g.5824TA[6]

Select item 14915075172.

rs1491507517 has merged into rs5837102 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:188738548 (GRCh38)
2:189603275 (GRCh37)
Canonical SPDI:: NC_000002.12:188738536:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:188738536:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:188738536:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:188738536:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:188738536:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:188738536:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:188738536:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:188738536:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DIRC1 (Varview), LOC105373790 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
T=0./0 (ALSPAC)
T=0./0 (TWINSUK)
T=0.0439/220 (1000Genomes)
HGVS:: NC_000002.12:g.188738548_188738551del, NC_000002.12:g.188738549_188738551del, NC_000002.12:g.188738550_188738551del, NC_000002.12:g.188738551del, NC_000002.12:g.188738551dup, NC_000002.12:g.188738541_188738551dup, NC_000002.12:g.188738540_188738551dup, NC_000002.12:g.188738551_188738552insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.189603275_189603278del, NC_000002.11:g.189603276_189603278del, NC_000002.11:g.189603277_189603278del, NC_000002.11:g.189603278del, NC_000002.11:g.189603278dup, NC_000002.11:g.189603268_189603278dup, NC_000002.11:g.189603267_189603278dup, NC_000002.11:g.189603278_189603279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027691.1:g.56565_56568del, NG_027691.1:g.56566_56568del, NG_027691.1:g.56567_56568del, NG_027691.1:g.56568del, NG_027691.1:g.56568dup, NG_027691.1:g.56558_56568dup, NG_027691.1:g.56557_56568dup, NG_027691.1:g.56568_56569insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14914365453.

rs1491436545 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:188734804 (GRCh38)
2:189599531 (GRCh37)
Canonical SPDI:: NC_000002.12:188734800:ACACA:ACA
Gene:: DIRC1 (Varview), LOC105373790 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.188734802CA[1], NC_000002.11:g.189599529CA[1], NG_027691.1:g.60301GT[1], NR_161166.1:n.407GT[1], NM_052952.3:c.119_120del, NM_052952.2:c.119_120del

Select item 14913864074.

rs1491386407 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 2:188782398 (GRCh38)
2:189647125 (GRCh37)
Canonical SPDI:: NC_000002.12:188782397:AAAAAAAA:AAAAAAA,NC_000002.12:188782397:AAAAAAAA:AAAAAAAAA
Gene:: DIRC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.188782405del, NC_000002.12:g.188782405dup, NC_000002.11:g.189647132del, NC_000002.11:g.189647132dup, NG_027691.1:g.12707del, NG_027691.1:g.12707dup

Select item 14913534335.

rs1491353433 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 2:188789373 (GRCh38)
2:189654100 (GRCh37)
Canonical SPDI:: NC_000002.12:188789372:GT:
Gene:: DIRC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.188789373_188789374del, NC_000002.11:g.189654100_189654101del, NG_027691.1:g.5731_5732del

Select item 14913306056.

rs1491330605 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CG [Show Flanks]
Chromosome:: 2:188787709 (GRCh38)
2:189652437 (GRCh37)
Canonical SPDI:: NC_000002.12:188787709:G:GCG
Gene:: DIRC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GCG=0./0 (ALFA)
GC=0.00116/18 (GnomAD)
HGVS:: NC_000002.12:g.188787710_188787711insCG, NC_000002.11:g.189652437_189652438insCG, NG_027691.1:g.7395_7396insGC

Select item 14912748647.

rs1491274864 has merged into rs34589640 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:188769127 (GRCh38)
2:189633854 (GRCh37)
Canonical SPDI:: NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DIRC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.1194/64 (NorthernSweden)
HGVS:: NC_000002.12:g.188769127_188769133del, NC_000002.12:g.188769131_188769133del, NC_000002.12:g.188769132_188769133del, NC_000002.12:g.188769133del, NC_000002.12:g.188769133dup, NC_000002.12:g.188769132_188769133dup, NC_000002.12:g.188769131_188769133dup, NC_000002.12:g.188769130_188769133dup, NC_000002.12:g.188769128_188769133dup, NC_000002.12:g.188769127_188769133dup, NC_000002.12:g.188769126_188769133dup, NC_000002.12:g.188769124_188769133dup, NC_000002.12:g.188769117_188769133T[27]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.188769122_188769133dup, NC_000002.12:g.188769133_188769134insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.189633854_189633860del, NC_000002.11:g.189633858_189633860del, NC_000002.11:g.189633859_189633860del, NC_000002.11:g.189633860del, NC_000002.11:g.189633860dup, NC_000002.11:g.189633859_189633860dup, NC_000002.11:g.189633858_189633860dup, NC_000002.11:g.189633857_189633860dup, NC_000002.11:g.189633855_189633860dup, NC_000002.11:g.189633854_189633860dup, NC_000002.11:g.189633853_189633860dup, NC_000002.11:g.189633851_189633860dup, NC_000002.11:g.189633844_189633860T[27]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.189633849_189633860dup, NC_000002.11:g.189633860_189633861insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027691.1:g.25982_25988del, NG_027691.1:g.25986_25988del, NG_027691.1:g.25987_25988del, NG_027691.1:g.25988del, NG_027691.1:g.25988dup, NG_027691.1:g.25987_25988dup, NG_027691.1:g.25986_25988dup, NG_027691.1:g.25985_25988dup, NG_027691.1:g.25983_25988dup, NG_027691.1:g.25982_25988dup, NG_027691.1:g.25981_25988dup, NG_027691.1:g.25979_25988dup, NG_027691.1:g.25972_25988A[37]CAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_027691.1:g.25977_25988dup, NG_027691.1:g.25988_25989insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14912073768.

rs1491207376 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATT,CTT [Show Flanks]
Chromosome:: 2:188769117 (GRCh38)
2:189633845 (GRCh37)
Canonical SPDI:: NC_000002.12:188769117:TT:TTATT,NC_000002.12:188769117:TT:TTCTT
Gene:: DIRC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTCTT=0./0 (ALFA)
TTC=0.000101/11 (GnomAD)
HGVS:: NC_000002.12:g.188769119_188769120insATT, NC_000002.12:g.188769119_188769120insCTT, NC_000002.11:g.189633846_189633847insATT, NC_000002.11:g.189633846_189633847insCTT, NG_027691.1:g.25987_25988insTAA, NG_027691.1:g.25987_25988insGAA

Select item 14911966309.

rs1491196630 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->TTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTT
Chromosome:: no mapping
Canonical SPDI:

Select item 149103616210.

rs1491036162 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:188774782 (GRCh38)
2:189639510 (GRCh37)
Canonical SPDI:: NC_000002.12:188774782:T:TT
Gene:: DIRC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.188774783dup, NC_000002.11:g.189639510dup, NG_027691.1:g.20322dup

Select item 149100613511.

rs1491006135 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:188769116 (GRCh38)
2:189633843 (GRCh37)
Canonical SPDI:: NC_000002.12:188769114:TCT:T
Gene:: DIRC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000926/15 (ALFA)
-=0.000673/11 (TOMMO)
-=0.001026/112 (GnomAD)
-=0.003435/22 (1000Genomes)
HGVS:: NC_000002.12:g.188769116_188769117del, NC_000002.11:g.189633843_189633844del, NG_027691.1:g.25989_25990del

Select item 149100572512.

rs1491005725 has merged into rs1482487971 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>-,CACA [Show Flanks]
Chromosome:: 2:188789384 (GRCh38)
2:189654111 (GRCh37)
Canonical SPDI:: NC_000002.12:188789380:ACACA:ACA,NC_000002.12:188789380:ACACA:ACACACA
Gene:: DIRC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACA=0./0 (ALFA)
AC=0.00004/1 (TOMMO)
AC=0.00014/10 (GnomAD)
HGVS:: NC_000002.12:g.188789382CA[1], NC_000002.12:g.188789382CA[3], NC_000002.11:g.189654109CA[1], NC_000002.11:g.189654109CA[3], NG_027691.1:g.5721GT[1], NG_027691.1:g.5721GT[3]

Select item 149100393813.

rs1491003938 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 2:188751536 (GRCh38)
2:189616263 (GRCh37)
Canonical SPDI:: NC_000002.12:188751535:G:C,NC_000002.12:188751535:G:T
Gene:: DIRC1 (Varview), LOC105373790 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.188751536G>C, NC_000002.12:g.188751536G>T, NC_000002.11:g.189616263G>C, NC_000002.11:g.189616263G>T, NG_027691.1:g.43569C>G, NG_027691.1:g.43569C>A, XR_923685.3:n.1198G>C, XR_923685.3:n.1198G>T

Select item 149097328014.

rs1490973280 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTGTTT [Show Flanks]
Chromosome:: 2:188774090 (GRCh38)
2:189638818 (GRCh37)
Canonical SPDI:: NC_000002.12:188774090::TTGTTT
Gene:: DIRC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTGTTT=0./0 (ALFA)
TTGTTT=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.188774090_188774091insTTGTTT, NC_000002.11:g.189638817_189638818insTTGTTT, NG_027691.1:g.21014_21015insAAACAA

Select item 149094818615.

rs1490948186 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:188753669 (GRCh38)
2:189618396 (GRCh37)
Canonical SPDI:: NC_000002.12:188753668:G:C
Gene:: DIRC1 (Varview), LOC105373790 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.188753669G>C, NC_000002.11:g.189618396G>C, NG_027691.1:g.41436C>G, XR_923685.3:n.3331G>C

Select item 149092965816.

rs1490929658 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:188786057 (GRCh38)
2:189650784 (GRCh37)
Canonical SPDI:: NC_000002.12:188786056:C:T
Gene:: DIRC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.188786057C>T, NC_000002.11:g.189650784C>T, NG_027691.1:g.9048G>A

Select item 149090431117.

rs1490904311 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:188785938 (GRCh38)
2:189650665 (GRCh37)
Canonical SPDI:: NC_000002.12:188785937:T:C
Gene:: DIRC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.188785938T>C, NC_000002.11:g.189650665T>C, NG_027691.1:g.9167A>G

Select item 149089893818.

rs1490898938 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:188788178 (GRCh38)
2:189652905 (GRCh37)
Canonical SPDI:: NC_000002.12:188788177:G:C
Gene:: DIRC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.188788178G>C, NC_000002.11:g.189652905G>C, NG_027691.1:g.6927C>G

Select item 149086542119.

rs1490865421 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:188773051 (GRCh38)
2:189637778 (GRCh37)
Canonical SPDI:: NC_000002.12:188773050:G:A
Gene:: DIRC1 (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.188773051G>A, NC_000002.11:g.189637778G>A, NG_027691.1:g.22054C>T

Select item 149084254320.

rs1490842543 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTATTTAT [Show Flanks]
Chromosome:: 2:188759225 (GRCh38)
2:189623953 (GRCh37)
Canonical SPDI:: NC_000002.12:188759225:TATTTAT:TATTTATGTATTTAT
Gene:: DIRC1 (Varview), LOC105373790 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: TATTTATGTATTTAT=0./0 (ALFA)
TATTTATG=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.188759232_188759233insGTATTTAT, NC_000002.11:g.189623959_189623960insGTATTTAT, NG_027691.1:g.35879_35880insCATAAATA, XR_923685.3:n.8894_8895insGTATTTAT

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