SNP Links for Gene (Select 23091) - SNP

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Select item 14915344221.

rs1491534422 has merged into rs79022953 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAATATAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAATACCTTTAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAATGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 13:45996757 (GRCh38)
13:46570892 (GRCh37)
Canonical SPDI:: NC_000013.11:45996748:AAAAAAAAAAAAAAA:AAAAAAAA,NC_000013.11:45996748:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000013.11:45996748:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:45996748:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:45996748:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:45996748:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:45996748:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:45996748:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:45996748:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:45996748:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:45996748:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:45996748:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:45996748:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:45996748:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:45996748:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:45996748:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:45996748:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATACCTTTAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:45996748:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZC3H13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000013.11:g.45996757_45996763del, NC_000013.11:g.45996759_45996763del, NC_000013.11:g.45996760_45996763del, NC_000013.11:g.45996761_45996763del, NC_000013.11:g.45996762_45996763del, NC_000013.11:g.45996763del, NC_000013.11:g.45996763dup, NC_000013.11:g.45996762_45996763dup, NC_000013.11:g.45996761_45996763dup, NC_000013.11:g.45996760_45996763dup, NC_000013.11:g.45996755_45996763dup, NC_000013.11:g.45996749_45996763dup, NC_000013.11:g.45996763_45996764insAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.45996763_45996764insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.45996763_45996764insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.45996749_45996763A[30]TA[2]A[24], NC_000013.11:g.45996749_45996763A[27]TACCTTTAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000013.11:g.45996749_45996763A[27]TGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000013.10:g.46570892_46570898del, NC_000013.10:g.46570894_46570898del, NC_000013.10:g.46570895_46570898del, NC_000013.10:g.46570896_46570898del, NC_000013.10:g.46570897_46570898del, NC_000013.10:g.46570898del, NC_000013.10:g.46570898dup, NC_000013.10:g.46570897_46570898dup, NC_000013.10:g.46570896_46570898dup, NC_000013.10:g.46570895_46570898dup, NC_000013.10:g.46570890_46570898dup, NC_000013.10:g.46570884_46570898dup, NC_000013.10:g.46570898_46570899insAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.46570898_46570899insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.46570898_46570899insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.46570884_46570898A[30]TA[2]A[24], NC_000013.10:g.46570884_46570898A[27]TACCTTTAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000013.10:g.46570884_46570898A[27]TGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14914139742.

rs1491413974 has merged into rs34258690 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>-,CACA,CACACA [Show Flanks]
Chromosome:: 13:46049313 (GRCh38)
13:46623448 (GRCh37)
Canonical SPDI:: NC_000013.11:46049303:ACACACACACA:ACACACACA,NC_000013.11:46049303:ACACACACACA:ACACACACACACA,NC_000013.11:46049303:ACACACACACA:ACACACACACACACA
Gene:: ZC3H13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACA=0./0 (ALFA)
-=0.131/240 (Korea1K)
-=0.1996/876 (Estonian)
-=0.2617/157 (NorthernSweden)
-=0.2813/1084 (ALSPAC)
-=0.2826/1048 (TWINSUK)
-=0.2866/286 (GoNL)
-=0.3037/65 (Vietnamese)
-=0.325/13 (GENOME_DK)
HGVS:: NC_000013.11:g.46049305CA[4], NC_000013.11:g.46049305CA[6], NC_000013.11:g.46049305CA[7], NC_000013.10:g.46623440CA[4], NC_000013.10:g.46623440CA[6], NC_000013.10:g.46623440CA[7]

Select item 14913948453.

rs1491394845 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 13:45958649 (GRCh38)
13:46532785 (GRCh37)
Canonical SPDI:: NC_000013.11:45958649:TT:TTCTT
Gene:: ZC3H13 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
HGVS:: NC_000013.11:g.45958651_45958652insCTT, NC_000013.10:g.46532786_46532787insCTT

Select item 14913936184.

rs1491393618 has merged into rs1555277661 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 13:45983425 (GRCh38)
13:46557560 (GRCh37)
Canonical SPDI:: NC_000013.11:45983413:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:45983413:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:45983413:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:45983413:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:45983413:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:45983413:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:45983413:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:45983413:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:45983413:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45983413:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45983413:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45983413:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45983413:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45983413:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45983413:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45983413:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45983413:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45983413:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45983413:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45983413:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45983413:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45983413:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45983413:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45983413:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ZC3H13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000013.11:g.45983425_45983444del, NC_000013.11:g.45983427_45983444del, NC_000013.11:g.45983428_45983444del, NC_000013.11:g.45983430_45983444del, NC_000013.11:g.45983431_45983444del, NC_000013.11:g.45983432_45983444del, NC_000013.11:g.45983433_45983444del, NC_000013.11:g.45983434_45983444del, NC_000013.11:g.45983435_45983444del, NC_000013.11:g.45983436_45983444del, NC_000013.11:g.45983437_45983444del, NC_000013.11:g.45983438_45983444del, NC_000013.11:g.45983439_45983444del, NC_000013.11:g.45983440_45983444del, NC_000013.11:g.45983441_45983444del, NC_000013.11:g.45983442_45983444del, NC_000013.11:g.45983443_45983444del, NC_000013.11:g.45983444del, NC_000013.11:g.45983444dup, NC_000013.11:g.45983443_45983444dup, NC_000013.11:g.45983442_45983444dup, NC_000013.11:g.45983441_45983444dup, NC_000013.11:g.45983434_45983444dup, NC_000013.11:g.45983431_45983444dup, NC_000013.10:g.46557560_46557579del, NC_000013.10:g.46557562_46557579del, NC_000013.10:g.46557563_46557579del, NC_000013.10:g.46557565_46557579del, NC_000013.10:g.46557566_46557579del, NC_000013.10:g.46557567_46557579del, NC_000013.10:g.46557568_46557579del, NC_000013.10:g.46557569_46557579del, NC_000013.10:g.46557570_46557579del, NC_000013.10:g.46557571_46557579del, NC_000013.10:g.46557572_46557579del, NC_000013.10:g.46557573_46557579del, NC_000013.10:g.46557574_46557579del, NC_000013.10:g.46557575_46557579del, NC_000013.10:g.46557576_46557579del, NC_000013.10:g.46557577_46557579del, NC_000013.10:g.46557578_46557579del, NC_000013.10:g.46557579del, NC_000013.10:g.46557579dup, NC_000013.10:g.46557578_46557579dup, NC_000013.10:g.46557577_46557579dup, NC_000013.10:g.46557576_46557579dup, NC_000013.10:g.46557569_46557579dup, NC_000013.10:g.46557566_46557579dup

Select item 14913629295.

rs1491362929 [Homo sapiens]

Variant type:: INS
Alleles:: ->GT [Show Flanks]
Chromosome:: 13:45975478 (GRCh38)
13:46549614 (GRCh37)
Canonical SPDI:: NC_000013.11:45975478::GT
Gene:: ZC3H13 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GT=0.00028/18 (ALFA)
GT=0.00024/3 (GoESP)
HGVS:: NC_000013.11:g.45975478_45975479insGT, NC_000013.10:g.46549613_46549614insGT, NM_015070.6:c.2272_2273insAC, NM_015070.5:c.2272_2273insAC, NM_015070.4:c.2272_2273insAC, NM_015070.3:c.2272_2273insAC, XM_005266303.4:c.2356_2357insAC, XM_005266303.3:c.2356_2357insAC, XM_005266303.2:c.2356_2357insAC, XM_005266303.1:c.2356_2357insAC, XM_005266305.4:c.2356_2357insAC, XM_005266305.3:c.2356_2357insAC, XM_005266305.2:c.2356_2357insAC, XM_005266305.1:c.2356_2357insAC, XM_005266304.4:c.2356_2357insAC, XM_005266304.3:c.2356_2357insAC, XM_005266304.2:c.2356_2357insAC, XM_005266304.1:c.2356_2357insAC, XM_005266302.4:c.2356_2357insAC, XM_005266302.3:c.2356_2357insAC, XM_005266302.2:c.2356_2357insAC, XM_005266302.1:c.2356_2357insAC, XM_005266306.4:c.2356_2357insAC, XM_005266306.3:c.2356_2357insAC, XM_005266306.2:c.2356_2357insAC, XM_005266306.1:c.2356_2357insAC, XM_017020475.3:c.2356_2357insAC, XM_017020475.2:c.2356_2357insAC, XM_017020475.1:c.2356_2357insAC, XM_017020476.3:c.2356_2357insAC, XM_017020476.2:c.2356_2357insAC, XM_017020476.1:c.2356_2357insAC, XM_017020478.2:c.2272_2273insAC, XM_017020478.1:c.2272_2273insAC, NM_001330566.2:c.2272_2273insAC, NM_001330566.1:c.2272_2273insAC, NM_001330564.2:c.2272_2273insAC, NM_001330564.1:c.2272_2273insAC, NM_001330567.2:c.2272_2273insAC, NM_001330567.1:c.2272_2273insAC, NM_001076788.2:c.2272_2273insAC, NM_001076788.1:c.2272_2273insAC, NM_001330565.2:c.2272_2273insAC, NM_001330565.1:c.2272_2273insAC, NR_167893.1:n.4462_4463insAC, NM_001382211.1:c.2356_2357insAC, NM_001382213.1:c.2356_2357insAC, XM_047430205.1:c.2356_2357insAC, NM_001382209.1:c.2272_2273insAC, NM_001382208.1:c.2272_2273insAC, NM_001382210.1:c.2272_2273insAC, NM_001382212.1:c.2356_2357insAC, NM_001382206.1:c.2272_2273insAC, XM_047430206.1:c.2272_2273insAC, XM_047430208.1:c.2272_2273insAC, NM_001382207.1:c.2272_2273insAC, XM_047430207.1:c.2272_2273insAC, NM_001382214.1:c.1771_1772insAC, NP_055885.3:p.Arg758fs, XP_005266360.1:p.Arg786fs, XP_005266362.1:p.Arg786fs, XP_005266361.1:p.Arg786fs, XP_005266359.1:p.Arg786fs, XP_005266363.1:p.Arg786fs, XP_016875964.1:p.Arg786fs, XP_016875965.1:p.Arg786fs, XP_016875967.1:p.Arg758fs, NP_001317495.1:p.Arg758fs, NP_001317493.1:p.Arg758fs, NP_001317496.1:p.Arg758fs, NP_001070256.1:p.Arg758fs, NP_001317494.1:p.Arg758fs, NP_001369140.1:p.Arg786fs, NP_001369142.1:p.Arg786fs, XP_047286161.1:p.Arg786fs, NP_001369138.1:p.Arg758fs, NP_001369137.1:p.Arg758fs, NP_001369139.1:p.Arg758fs, NP_001369141.1:p.Arg786fs, NP_001369135.1:p.Arg758fs, XP_047286162.1:p.Arg758fs, XP_047286164.1:p.Arg758fs, NP_001369136.1:p.Arg758fs, XP_047286163.1:p.Arg758fs, NP_001369143.1:p.Arg591fs

Select item 14912016856.

rs1491201685 [Homo sapiens]

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

Select item 14911743297.

rs1491174329 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 13:45983401 (GRCh38)
13:46557536 (GRCh37)
Canonical SPDI:: NC_000013.11:45983400:TT:
Gene:: ZC3H13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00003/1 (GnomAD)
HGVS:: NC_000013.11:g.45983401_45983402del, NC_000013.10:g.46557536_46557537del

Select item 14911395308.

rs1491139530 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 13:46030185 (GRCh38)
13:46604320 (GRCh37)
Canonical SPDI:: NC_000013.11:46030184:TA:
Gene:: ZC3H13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.0355/137 (ALSPAC)
-=0.0396/147 (TWINSUK)
HGVS:: NC_000013.11:g.46030185_46030186del, NC_000013.10:g.46604320_46604321del

Select item 14911118229.

rs1491111822 has merged into rs10539884 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 13:45958660 (GRCh38)
13:46532795 (GRCh37)
Canonical SPDI:: NC_000013.11:45958648:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:45958648:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:45958648:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:45958648:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:45958648:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:45958648:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:45958648:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:45958648:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:45958648:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:45958648:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45958648:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45958648:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45958648:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45958648:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45958648:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45958648:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45958648:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45958648:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45958648:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45958648:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45958648:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45958648:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45958648:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45958648:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45958648:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45958648:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45958648:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ZC3H13 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000013.11:g.45958660_45958673del, NC_000013.11:g.45958662_45958673del, NC_000013.11:g.45958663_45958673del, NC_000013.11:g.45958664_45958673del, NC_000013.11:g.45958665_45958673del, NC_000013.11:g.45958666_45958673del, NC_000013.11:g.45958667_45958673del, NC_000013.11:g.45958668_45958673del, NC_000013.11:g.45958669_45958673del, NC_000013.11:g.45958670_45958673del, NC_000013.11:g.45958671_45958673del, NC_000013.11:g.45958672_45958673del, NC_000013.11:g.45958673del, NC_000013.11:g.45958673dup, NC_000013.11:g.45958672_45958673dup, NC_000013.11:g.45958671_45958673dup, NC_000013.11:g.45958670_45958673dup, NC_000013.11:g.45958669_45958673dup, NC_000013.11:g.45958668_45958673dup, NC_000013.11:g.45958667_45958673dup, NC_000013.11:g.45958666_45958673dup, NC_000013.11:g.45958653_45958673dup, NC_000013.11:g.45958650_45958673dup, NC_000013.11:g.45958673_45958674insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.45958673_45958674insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.45958673_45958674insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.45958673_45958674insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.46532795_46532808del, NC_000013.10:g.46532797_46532808del, NC_000013.10:g.46532798_46532808del, NC_000013.10:g.46532799_46532808del, NC_000013.10:g.46532800_46532808del, NC_000013.10:g.46532801_46532808del, NC_000013.10:g.46532802_46532808del, NC_000013.10:g.46532803_46532808del, NC_000013.10:g.46532804_46532808del, NC_000013.10:g.46532805_46532808del, NC_000013.10:g.46532806_46532808del, NC_000013.10:g.46532807_46532808del, NC_000013.10:g.46532808del, NC_000013.10:g.46532808dup, NC_000013.10:g.46532807_46532808dup, NC_000013.10:g.46532806_46532808dup, NC_000013.10:g.46532805_46532808dup, NC_000013.10:g.46532804_46532808dup, NC_000013.10:g.46532803_46532808dup, NC_000013.10:g.46532802_46532808dup, NC_000013.10:g.46532801_46532808dup, NC_000013.10:g.46532788_46532808dup, NC_000013.10:g.46532785_46532808dup, NC_000013.10:g.46532808_46532809insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.46532808_46532809insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.46532808_46532809insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.46532808_46532809insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149105937110.

rs1491059371 [Homo sapiens]

Variant type:: INS
Alleles:: ->AC [Show Flanks]
Chromosome:: 13:46032379 (GRCh38)
13:46606515 (GRCh37)
Canonical SPDI:: NC_000013.11:46032379::AC
Gene:: ZC3H13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AC=0./0 (ALFA)
AC=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.46032379_46032380insAC, NC_000013.10:g.46606514_46606515insAC

Select item 149105817011.

rs1491058170 has merged into rs113622879 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 13:46004152 (GRCh38)
13:46578287 (GRCh37)
Canonical SPDI:: NC_000013.11:46004140:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGT,NC_000013.11:46004140:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000013.11:46004140:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000013.11:46004140:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000013.11:46004140:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:46004140:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:46004140:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:46004140:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:46004140:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: ZC3H13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGT=0./0 (ALFA)
TGTG=0.0511/256 (1000Genomes)
HGVS:: NC_000013.11:g.46004142GT[5], NC_000013.11:g.46004142GT[7], NC_000013.11:g.46004142GT[8], NC_000013.11:g.46004142GT[9], NC_000013.11:g.46004142GT[11], NC_000013.11:g.46004142GT[12], NC_000013.11:g.46004142GT[13], NC_000013.11:g.46004142GT[14], NC_000013.11:g.46004142GT[15], NC_000013.10:g.46578277GT[5], NC_000013.10:g.46578277GT[7], NC_000013.10:g.46578277GT[8], NC_000013.10:g.46578277GT[9], NC_000013.10:g.46578277GT[11], NC_000013.10:g.46578277GT[12], NC_000013.10:g.46578277GT[13], NC_000013.10:g.46578277GT[14], NC_000013.10:g.46578277GT[15]

Select item 149097514412.

rs1490975144 has merged into rs751763129 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA [Show Flanks]
Chromosome:: 13:46004098 (GRCh38)
13:46578233 (GRCh37)
Canonical SPDI:: NC_000013.11:46004088:ATATATATATATA:ATATATATA,NC_000013.11:46004088:ATATATATATATA:ATATATATATA,NC_000013.11:46004088:ATATATATATATA:ATATATATATATATA
Gene:: ZC3H13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATA=0./0 (ALFA)
AT=0.00223/37 (TOMMO)
HGVS:: NC_000013.11:g.46004090TA[4], NC_000013.11:g.46004090TA[5], NC_000013.11:g.46004090TA[7], NC_000013.10:g.46578225TA[4], NC_000013.10:g.46578225TA[5], NC_000013.10:g.46578225TA[7]

Select item 149092886813.

rs1490928868 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:46002960 (GRCh38)
13:46577095 (GRCh37)
Canonical SPDI:: NC_000013.11:46002959:C:T
Gene:: ZC3H13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.46002960C>T, NC_000013.10:g.46577095C>T

Select item 149081743414.

rs1490817434 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:45992196 (GRCh38)
13:46566331 (GRCh37)
Canonical SPDI:: NC_000013.11:45992195:T:C
Gene:: ZC3H13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000013.11:g.45992196T>C, NC_000013.10:g.46566331T>C

Select item 149076856615.

rs1490768566 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:46030908 (GRCh38)
13:46605043 (GRCh37)
Canonical SPDI:: NC_000013.11:46030907:A:G
Gene:: ZC3H13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000162/3 (ALFA)
G=0.000023/6 (TOPMED)
G=0.000036/5 (GnomAD)
G=0.000446/2 (Estonian)
HGVS:: NC_000013.11:g.46030908A>G, NC_000013.10:g.46605043A>G

Select item 149076042916.

rs1490760429 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:46028103 (GRCh38)
13:46602238 (GRCh37)
Canonical SPDI:: NC_000013.11:46028102:A:G
Gene:: ZC3H13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.46028103A>G, NC_000013.10:g.46602238A>G

Select item 149062059917.

rs1490620599 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 13:46012243 (GRCh38)
13:46586378 (GRCh37)
Canonical SPDI:: NC_000013.11:46012242:AA:
Gene:: ZC3H13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.46012243_46012244del, NC_000013.10:g.46586378_46586379del

Select item 149059604818.

rs1490596048 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:45972844 (GRCh38)
13:46546979 (GRCh37)
Canonical SPDI:: NC_000013.11:45972843:A:G
Gene:: ZC3H13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.45972844A>G, NC_000013.10:g.46546979A>G

Select item 149056243819.

rs1490562438 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:46010933 (GRCh38)
13:46585068 (GRCh37)
Canonical SPDI:: NC_000013.11:46010932:C:T
Gene:: ZC3H13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000013.11:g.46010933C>T, NC_000013.10:g.46585068C>T

Select item 149054640620.

rs1490546406 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 13:45995027 (GRCh38)
13:46569162 (GRCh37)
Canonical SPDI:: NC_000013.11:45995026:A:T
Gene:: ZC3H13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.45995027A>T, NC_000013.10:g.46569162A>T

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