SNP Links for Gene (Select 80726) - SNP

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Select item 14915558031.

rs1491555803 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGTG [Show Flanks]
Chromosome:: 19:18268175 (GRCh38)
19:18378986 (GRCh37)
Canonical SPDI:: NC_000019.10:18268175:GTG:GTGCGTG
Gene:: IQCN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTGCGTG=0.00025/3 (ALFA)
GTGC=0.01138/29 (GnomAD)
HGVS:: NC_000019.10:g.18268178_18268179insCGTG, NC_000019.9:g.18378988_18378989insCGTG

Select item 14913811332.

rs1491381133 has merged into rs55706433 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:18270841 (GRCh38)
19:18381651 (GRCh37)
Canonical SPDI:: NC_000019.10:18270830:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:18270830:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:18270830:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:18270830:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:18270830:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:18270830:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:18270830:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:18270830:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:18270830:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:18270830:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:18270830:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: IQCN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.4163/2085 (1000Genomes)
HGVS:: NC_000019.10:g.18270841_18270847del, NC_000019.10:g.18270842_18270847del, NC_000019.10:g.18270843_18270847del, NC_000019.10:g.18270844_18270847del, NC_000019.10:g.18270845_18270847del, NC_000019.10:g.18270846_18270847del, NC_000019.10:g.18270847del, NC_000019.10:g.18270847dup, NC_000019.10:g.18270846_18270847dup, NC_000019.10:g.18270844_18270847dup, NC_000019.10:g.18270840_18270847dup, NC_000019.9:g.18381651_18381657del, NC_000019.9:g.18381652_18381657del, NC_000019.9:g.18381653_18381657del, NC_000019.9:g.18381654_18381657del, NC_000019.9:g.18381655_18381657del, NC_000019.9:g.18381656_18381657del, NC_000019.9:g.18381657del, NC_000019.9:g.18381657dup, NC_000019.9:g.18381656_18381657dup, NC_000019.9:g.18381654_18381657dup, NC_000019.9:g.18381650_18381657dup

Select item 14913525683.

rs1491352568 has merged into rs940402845 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA [Show Flanks]
Chromosome:: 19:18268234 (GRCh38)
19:18379044 (GRCh37)
Canonical SPDI:: NC_000019.10:18268224:AGAGAGAGAGAGA:AGAGAGAGA,NC_000019.10:18268224:AGAGAGAGAGAGA:AGAGAGAGAGA
Gene:: IQCN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGA=0./0 (ALFA)
HGVS:: NC_000019.10:g.18268226GA[4], NC_000019.10:g.18268226GA[5], NC_000019.9:g.18379036GA[4], NC_000019.9:g.18379036GA[5]

Select item 14913386344.

rs1491338634 [Homo sapiens]

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

Select item 14913181865.

rs1491318186 has merged into rs71336668 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 19:18268188 (GRCh38)
19:18378998 (GRCh37)
Canonical SPDI:: NC_000019.10:18268174:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000019.10:18268174:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000019.10:18268174:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000019.10:18268174:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000019.10:18268174:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:18268174:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:18268174:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:18268174:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:18268174:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:18268174:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:18268174:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:18268174:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:18268174:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:18268174:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:18268174:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:18268174:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:18268174:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:18268174:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:18268174:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:18268174:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:18268174:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:18268174:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:18268174:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:18268174:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:18268174:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: IQCN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000019.10:g.18268176GT[6], NC_000019.10:g.18268176GT[8], NC_000019.10:g.18268176GT[9], NC_000019.10:g.18268176GT[10], NC_000019.10:g.18268176GT[11], NC_000019.10:g.18268176GT[12], NC_000019.10:g.18268176GT[13], NC_000019.10:g.18268176GT[14], NC_000019.10:g.18268176GT[15], NC_000019.10:g.18268176GT[16], NC_000019.10:g.18268176GT[17], NC_000019.10:g.18268176GT[18], NC_000019.10:g.18268176GT[19], NC_000019.10:g.18268176GT[20], NC_000019.10:g.18268176GT[22], NC_000019.10:g.18268176GT[23], NC_000019.10:g.18268176GT[24], NC_000019.10:g.18268176GT[25], NC_000019.10:g.18268176GT[26], NC_000019.10:g.18268176GT[27], NC_000019.10:g.18268176GT[28], NC_000019.10:g.18268176GT[29], NC_000019.10:g.18268176GT[30], NC_000019.10:g.18268176GT[31], NC_000019.10:g.18268176GT[32], NC_000019.9:g.18378986GT[6], NC_000019.9:g.18378986GT[8], NC_000019.9:g.18378986GT[9], NC_000019.9:g.18378986GT[10], NC_000019.9:g.18378986GT[11], NC_000019.9:g.18378986GT[12], NC_000019.9:g.18378986GT[13], NC_000019.9:g.18378986GT[14], NC_000019.9:g.18378986GT[15], NC_000019.9:g.18378986GT[16], NC_000019.9:g.18378986GT[17], NC_000019.9:g.18378986GT[18], NC_000019.9:g.18378986GT[19], NC_000019.9:g.18378986GT[20], NC_000019.9:g.18378986GT[22], NC_000019.9:g.18378986GT[23], NC_000019.9:g.18378986GT[24], NC_000019.9:g.18378986GT[25], NC_000019.9:g.18378986GT[26], NC_000019.9:g.18378986GT[27], NC_000019.9:g.18378986GT[28], NC_000019.9:g.18378986GT[29], NC_000019.9:g.18378986GT[30], NC_000019.9:g.18378986GT[31], NC_000019.9:g.18378986GT[32]

Select item 14912848106.

rs1491284810 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:18270830 (GRCh38)
19:18381640 (GRCh37)
Canonical SPDI:: NC_000019.10:18270829:CA:
Gene:: IQCN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000019.10:g.18270830_18270831del, NC_000019.9:g.18381640_18381641del

Select item 14912546267.

rs1491254626 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT,GTGT,GTGTGTGT,GTGTGTGTGT [Show Flanks]
Chromosome:: 19:18268172 (GRCh38)
19:18378983 (GRCh37)
Canonical SPDI:: NC_000019.10:18268172:T:TGT,NC_000019.10:18268172:T:TGTGT,NC_000019.10:18268172:T:TGTGTGTGT,NC_000019.10:18268172:T:TGTGTGTGTGT
Gene:: IQCN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGT=0./0 (ALFA)
HGVS:: NC_000019.10:g.18268173_18268174insGT, NC_000019.10:g.18268173_18268174insGTGT, NC_000019.10:g.18268174GT[4], NC_000019.10:g.18268174GT[5], NC_000019.9:g.18378983_18378984insGT, NC_000019.9:g.18378983_18378984insGTGT, NC_000019.9:g.18378984GT[4], NC_000019.9:g.18378984GT[5]

Select item 14911612188.

rs1491161218 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 19:18268218 (GRCh38)
19:18379028 (GRCh37)
Canonical SPDI:: NC_000019.10:18268216:TTT:T
Gene:: IQCN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.18268218_18268219del, NC_000019.9:g.18379028_18379029del

Select item 14910385619.

rs1491038561 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 19:18267809 (GRCh38)
19:18378619 (GRCh37)
Canonical SPDI:: NC_000019.10:18267808:TG:
Gene:: IQCN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
HGVS:: NC_000019.10:g.18267809_18267810del, NC_000019.9:g.18378619_18378620del

Select item 149094467010.

rs1490944670 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:18257282 (GRCh38)
19:18368092 (GRCh37)
Canonical SPDI:: NC_000019.10:18257281:C:T
Gene:: IQCN (Varview), LOC729966 (Varview)
Functional Consequence:: 2KB_upstream_variant,stop_gained,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.18257282C>T, NC_000019.9:g.18368092C>T, NM_025249.4:c.3441G>A, NM_025249.3:c.3441G>A, XM_005260084.2:c.4002G>A, XM_005260084.1:c.4002G>A, NM_001145304.2:c.4002G>A, NM_001145304.1:c.4002G>A, NM_001145305.2:c.3303G>A, NM_001145305.1:c.3303G>A, NP_079525.1:p.Trp1147Ter, XP_005260141.1:p.Trp1334Ter, NP_001138776.1:p.Trp1334Ter, NP_001138777.1:p.Trp1101Ter

Select item 149094372511.

rs1490943725 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:18272070 (GRCh38)
19:18382880 (GRCh37)
Canonical SPDI:: NC_000019.10:18272069:G:A
Gene:: IQCN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000106/3 (TOMMO)
HGVS:: NC_000019.10:g.18272070G>A, NC_000019.9:g.18382880G>A

Select item 149072298212.

rs1490722982 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:18275517 (GRCh38)
19:18386327 (GRCh37)
Canonical SPDI:: NC_000019.10:18275516:G:A
Gene:: IQCN (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.18275517G>A, NC_000019.9:g.18386327G>A

Select item 149056073913.

rs1490560739 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:18275894 (GRCh38)
19:18386704 (GRCh37)
Canonical SPDI:: NC_000019.10:18275893:A:T
Gene:: IQCN (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.18275894A>T, NC_000019.9:g.18386704A>T

Select item 149054842714.

rs1490548427 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:18262861 (GRCh38)
19:18373671 (GRCh37)
Canonical SPDI:: NC_000019.10:18262860:T:C,NC_000019.10:18262860:T:G
Gene:: IQCN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0./0 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000019.10:g.18262861T>C, NC_000019.10:g.18262861T>G, NC_000019.9:g.18373671T>C, NC_000019.9:g.18373671T>G

Select item 149014468715.

rs1490144687 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:18271172 (GRCh38)
19:18381982 (GRCh37)
Canonical SPDI:: NC_000019.10:18271171:A:C
Gene:: IQCN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.18271172A>C, NC_000019.9:g.18381982A>C

Select item 149007965216.

rs1490079652 has merged into rs35086395 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:18268971 (GRCh38)
19:18379781 (GRCh37)
Canonical SPDI:: NC_000019.10:18268961:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:18268961:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:18268961:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:18268961:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:18268961:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:18268961:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:18268961:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:18268961:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:18268961:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:18268961:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:18268961:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:18268961:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:18268961:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:18268961:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:18268961:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: IQCN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.18268971_18268981del, NC_000019.10:g.18268973_18268981del, NC_000019.10:g.18268974_18268981del, NC_000019.10:g.18268975_18268981del, NC_000019.10:g.18268976_18268981del, NC_000019.10:g.18268977_18268981del, NC_000019.10:g.18268979_18268981del, NC_000019.10:g.18268980_18268981del, NC_000019.10:g.18268981del, NC_000019.10:g.18268981dup, NC_000019.10:g.18268980_18268981dup, NC_000019.10:g.18268979_18268981dup, NC_000019.10:g.18268978_18268981dup, NC_000019.10:g.18268977_18268981dup, NC_000019.10:g.18268976_18268981dup, NC_000019.9:g.18379781_18379791del, NC_000019.9:g.18379783_18379791del, NC_000019.9:g.18379784_18379791del, NC_000019.9:g.18379785_18379791del, NC_000019.9:g.18379786_18379791del, NC_000019.9:g.18379787_18379791del, NC_000019.9:g.18379789_18379791del, NC_000019.9:g.18379790_18379791del, NC_000019.9:g.18379791del, NC_000019.9:g.18379791dup, NC_000019.9:g.18379790_18379791dup, NC_000019.9:g.18379789_18379791dup, NC_000019.9:g.18379788_18379791dup, NC_000019.9:g.18379787_18379791dup, NC_000019.9:g.18379786_18379791dup

Select item 148995453617.

rs1489954536 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 19:18272158 (GRCh38)
19:18382968 (GRCh37)
Canonical SPDI:: NC_000019.10:18272157:G:A,NC_000019.10:18272157:G:C,NC_000019.10:18272157:G:T
Gene:: IQCN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.00067/3 (Estonian)
HGVS:: NC_000019.10:g.18272158G>A, NC_000019.10:g.18272158G>C, NC_000019.10:g.18272158G>T, NC_000019.9:g.18382968G>A, NC_000019.9:g.18382968G>C, NC_000019.9:g.18382968G>T

Select item 148974688318.

rs1489746883 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:18276215 (GRCh38)
19:18387025 (GRCh37)
Canonical SPDI:: NC_000019.10:18276214:G:A
Gene:: IQCN (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000019.10:g.18276215G>A, NC_000019.9:g.18387025G>A

Select item 148972630719.

rs1489726307 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:18270171 (GRCh38)
19:18380981 (GRCh37)
Canonical SPDI:: NC_000019.10:18270170:C:G
Gene:: IQCN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.18270171C>G, NC_000019.9:g.18380981C>G

Select item 148965961520.

rs1489659615 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:18263352 (GRCh38)
19:18374162 (GRCh37)
Canonical SPDI:: NC_000019.10:18263351:C:T
Gene:: IQCN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000106/2 (TOMMO)
T=0.000342/1 (KOREAN)
HGVS:: NC_000019.10:g.18263352C>T, NC_000019.9:g.18374162C>T

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