SNP Links for Gene (Select 90353) - SNP

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Select item 14913920771.

rs1491392077 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:51099302 (GRCh38)
19:51602560 (GRCh37)
Canonical SPDI:: NC_000019.10:51099302:GG:GGG
Gene:: CTU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GGG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.51099304dup, NC_000019.9:g.51602561dup

Select item 14913575442.

rs1491357544 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:51103584 (GRCh38)
19:51606841 (GRCh37)
Canonical SPDI:: NC_000019.10:51103583:CA:
Gene:: CTU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00489/58 (ALFA)
-=0.00342/96 (TOMMO)
HGVS:: NC_000019.10:g.51103584_51103585del, NC_000019.9:g.51606841_51606842del

Select item 14913221463.

rs1491322146 has merged into rs746986273 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:51103593 (GRCh38)
19:51606850 (GRCh37)
Canonical SPDI:: NC_000019.10:51103584:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000019.10:51103584:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:51103584:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:51103584:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:51103584:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:51103584:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:51103584:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:51103584:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:51103584:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:51103584:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51103584:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51103584:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51103584:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51103584:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51103584:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CTU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.51103593_51103605del, NC_000019.10:g.51103595_51103605del, NC_000019.10:g.51103599_51103605del, NC_000019.10:g.51103600_51103605del, NC_000019.10:g.51103601_51103605del, NC_000019.10:g.51103602_51103605del, NC_000019.10:g.51103603_51103605del, NC_000019.10:g.51103604_51103605del, NC_000019.10:g.51103605del, NC_000019.10:g.51103605dup, NC_000019.10:g.51103604_51103605dup, NC_000019.10:g.51103603_51103605dup, NC_000019.10:g.51103602_51103605dup, NC_000019.10:g.51103601_51103605dup, NC_000019.10:g.51103599_51103605dup, NC_000019.9:g.51606850_51606862del, NC_000019.9:g.51606852_51606862del, NC_000019.9:g.51606856_51606862del, NC_000019.9:g.51606857_51606862del, NC_000019.9:g.51606858_51606862del, NC_000019.9:g.51606859_51606862del, NC_000019.9:g.51606860_51606862del, NC_000019.9:g.51606861_51606862del, NC_000019.9:g.51606862del, NC_000019.9:g.51606862dup, NC_000019.9:g.51606861_51606862dup, NC_000019.9:g.51606860_51606862dup, NC_000019.9:g.51606859_51606862dup, NC_000019.9:g.51606858_51606862dup, NC_000019.9:g.51606856_51606862dup

Select item 14912067614.

rs1491206761 has merged into rs746986273 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:51103593 (GRCh38)
19:51606850 (GRCh37)
Canonical SPDI:: NC_000019.10:51103584:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000019.10:51103584:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:51103584:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:51103584:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:51103584:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:51103584:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:51103584:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:51103584:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:51103584:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:51103584:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51103584:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51103584:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51103584:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51103584:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51103584:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CTU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.51103593_51103605del, NC_000019.10:g.51103595_51103605del, NC_000019.10:g.51103599_51103605del, NC_000019.10:g.51103600_51103605del, NC_000019.10:g.51103601_51103605del, NC_000019.10:g.51103602_51103605del, NC_000019.10:g.51103603_51103605del, NC_000019.10:g.51103604_51103605del, NC_000019.10:g.51103605del, NC_000019.10:g.51103605dup, NC_000019.10:g.51103604_51103605dup, NC_000019.10:g.51103603_51103605dup, NC_000019.10:g.51103602_51103605dup, NC_000019.10:g.51103601_51103605dup, NC_000019.10:g.51103599_51103605dup, NC_000019.9:g.51606850_51606862del, NC_000019.9:g.51606852_51606862del, NC_000019.9:g.51606856_51606862del, NC_000019.9:g.51606857_51606862del, NC_000019.9:g.51606858_51606862del, NC_000019.9:g.51606859_51606862del, NC_000019.9:g.51606860_51606862del, NC_000019.9:g.51606861_51606862del, NC_000019.9:g.51606862del, NC_000019.9:g.51606862dup, NC_000019.9:g.51606861_51606862dup, NC_000019.9:g.51606860_51606862dup, NC_000019.9:g.51606859_51606862dup, NC_000019.9:g.51606858_51606862dup, NC_000019.9:g.51606856_51606862dup

Select item 14912064145.

rs1491206414 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:51103585 (GRCh38)
19:51606843 (GRCh37)
Canonical SPDI:: NC_000019.10:51103585::C
Gene:: CTU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.51103585_51103586insC, NC_000019.9:g.51606842_51606843insC

Select item 14908021786.

rs1490802178 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:51099992 (GRCh38)
19:51603249 (GRCh37)
Canonical SPDI:: NC_000019.10:51099991:A:G
Gene:: CTU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.51099992A>G, NC_000019.9:g.51603249A>G

Select item 14907733687.

rs1490773368 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:51097426 (GRCh38)
19:51600683 (GRCh37)
Canonical SPDI:: NC_000019.10:51097425:G:A
Gene:: CTU1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.51097426G>A, NC_000019.9:g.51600683G>A

Select item 14907671118.

rs1490767111 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:51098037 (GRCh38)
19:51601294 (GRCh37)
Canonical SPDI:: NC_000019.10:51098036:A:G
Gene:: CTU1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.51098037A>G, NC_000019.9:g.51601294A>G, NM_145232.4:c.*564T>C, NM_145232.3:c.*564T>C

Select item 14907385399.

rs1490738539 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 19:51098936 (GRCh38)
19:51602193 (GRCh37)
Canonical SPDI:: NC_000019.10:51098935:C:A,NC_000019.10:51098935:C:G
Gene:: CTU1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.51098936C>A, NC_000019.10:g.51098936C>G, NC_000019.9:g.51602193C>A, NC_000019.9:g.51602193C>G, NM_145232.4:c.712G>T, NM_145232.4:c.712G>C, NM_145232.3:c.712G>T, NM_145232.3:c.712G>C, NP_660275.2:p.Val238Phe, NP_660275.2:p.Val238Leu

Select item 149069199510.

rs1490691995 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:51098880 (GRCh38)
19:51602137 (GRCh37)
Canonical SPDI:: NC_000019.10:51098879:C:T
Gene:: CTU1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.51098880C>T, NC_000019.9:g.51602137C>T, NM_145232.4:c.768G>A, NM_145232.3:c.768G>A

Select item 149028133911.

rs1490281339 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:51097780 (GRCh38)
19:51601037 (GRCh37)
Canonical SPDI:: NC_000019.10:51097779:C:T
Gene:: CTU1 (Varview)
Functional Consequence:: 3_prime_UTR_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_000019.10:g.51097780C>T, NC_000019.9:g.51601037C>T, NM_145232.4:c.*821G>A, NM_145232.3:c.*821G>A

Select item 149009569312.

rs1490095693 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:51106381 (GRCh38)
19:51609638 (GRCh37)
Canonical SPDI:: NC_000019.10:51106380:C:G,NC_000019.10:51106380:C:T
Gene:: CTU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
G=0.000106/2 (TOMMO)
HGVS:: NC_000019.10:g.51106381C>G, NC_000019.10:g.51106381C>T, NC_000019.9:g.51609638C>G, NC_000019.9:g.51609638C>T

Select item 148980908313.

rs1489809083 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:51099938 (GRCh38)
19:51603195 (GRCh37)
Canonical SPDI:: NC_000019.10:51099937:T:A
Gene:: CTU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.51099938T>A, NC_000019.9:g.51603195T>A

Select item 148978949214.

rs1489789492 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:51098075 (GRCh38)
19:51601332 (GRCh37)
Canonical SPDI:: NC_000019.10:51098074:T:G
Gene:: CTU1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.51098075T>G, NC_000019.9:g.51601332T>G, NM_145232.4:c.*526A>C, NM_145232.3:c.*526A>C

Select item 148935545315.

rs1489355453 has merged into rs1210621733 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTT>-,CTTCTT [Show Flanks]
Chromosome:: 19:51110296 (GRCh38)
19:51613553 (GRCh37)
Canonical SPDI:: NC_000019.10:51110284:TTCTTCTTCTTCTT:TTCTTCTTCTT,NC_000019.10:51110284:TTCTTCTTCTTCTT:TTCTTCTTCTTCTTCTT
Gene:: CTU1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCTTCTTCTTCTTCTT=0./0 (ALFA)
-=0.00035/6 (TOMMO)
-=0.00055/1 (Korea1K)
HGVS:: NC_000019.10:g.51110287CTT[3], NC_000019.10:g.51110287CTT[5], NC_000019.9:g.51613544CTT[3], NC_000019.9:g.51613544CTT[5]

Select item 148907099516.

rs1489070995 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:51099118 (GRCh38)
19:51602375 (GRCh37)
Canonical SPDI:: NC_000019.10:51099117:G:A,NC_000019.10:51099117:G:C
Gene:: CTU1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.51099118G>A, NC_000019.10:g.51099118G>C, NC_000019.9:g.51602375G>A, NC_000019.9:g.51602375G>C, NM_145232.4:c.530C>T, NM_145232.4:c.530C>G, NM_145232.3:c.530C>T, NM_145232.3:c.530C>G, NP_660275.2:p.Ala177Val, NP_660275.2:p.Ala177Gly

Select item 148894817417.

rs1488948174 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:51105925 (GRCh38)
19:51609182 (GRCh37)
Canonical SPDI:: NC_000019.10:51105924:A:C
Gene:: CTU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.51105925A>C, NC_000019.9:g.51609182A>C

Select item 148843702918.

rs1488437029 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:51107160 (GRCh38)
19:51610417 (GRCh37)
Canonical SPDI:: NC_000019.10:51107159:T:C
Gene:: CTU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0./0 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.51107160T>C, NC_000019.9:g.51610417T>C

Select item 148840600419.

rs1488406004 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:51106255 (GRCh38)
19:51609512 (GRCh37)
Canonical SPDI:: NC_000019.10:51106254:T:C
Gene:: CTU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.51106255T>C, NC_000019.9:g.51609512T>C

Select item 148799531920.

rs1487995319 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:51099062 (GRCh38)
19:51602320 (GRCh37)
Canonical SPDI:: NC_000019.10:51099062:G:GG
Gene:: CTU1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.51099063dup, NC_000019.9:g.51602320dup, NM_145232.4:c.585dup, NM_145232.3:c.585dup, NP_660275.2:p.Gly196fs

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