SNP Links for Gene (Select 2495) - SNP

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Select item 14913197701.

rs1491319770 has merged into rs60961005 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC,CCC,CCCC [Show Flanks]
Chromosome:: 11:61967910 (GRCh38)
11:61735382 (GRCh37)
Canonical SPDI:: NC_000011.10:61967909:CCCCCCCCCC:CCCCCCCCC,NC_000011.10:61967909:CCCCCCCCCC:CCCCCCCCCCC,NC_000011.10:61967909:CCCCCCCCCC:CCCCCCCCCCCC,NC_000011.10:61967909:CCCCCCCCCC:CCCCCCCCCCCCC
Gene:: FTH1 (Varview), LOC399900 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCCC=0./0 (ALFA)
-=0.11983/533 (Estonian)
HGVS:: NC_000011.10:g.61967919del, NC_000011.10:g.61967919dup, NC_000011.10:g.61967918_61967919dup, NC_000011.10:g.61967917_61967919dup, NC_000011.9:g.61735391del, NC_000011.9:g.61735391dup, NC_000011.9:g.61735390_61735391dup, NC_000011.9:g.61735389_61735391dup, NG_008346.1:g.4751del, NG_008346.1:g.4751dup, NG_008346.1:g.4750_4751dup, NG_008346.1:g.4749_4751dup, XR_247232.5:n.137del, XR_247232.5:n.137dup, XR_247232.5:n.136_137dup, XR_247232.5:n.135_137dup, XR_247232.4:n.122del, XR_247232.4:n.122dup, XR_247232.4:n.121_122dup, XR_247232.4:n.120_122dup, XR_247232.3:n.122del, XR_247232.3:n.122dup, XR_247232.3:n.121_122dup, XR_247232.3:n.120_122dup, XR_247232.2:n.182del, XR_247232.2:n.182dup, XR_247232.2:n.181_182dup, XR_247232.2:n.180_182dup, XR_247232.1:n.120del, XR_247232.1:n.120dup, XR_247232.1:n.119_120dup, XR_247232.1:n.118_120dup, NM_001013667.1:c.-200del, NM_001013667.1:c.-200dup, NM_001013667.1:c.-201_-200dup, NM_001013667.1:c.-202_-200dup

Select item 14903121622.

rs1490312162 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:61969167 (GRCh38)
11:61736639 (GRCh37)
Canonical SPDI:: NC_000011.10:61969166:A:G
Gene:: FTH1 (Varview), LOC399900 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.61969167A>G, NC_000011.9:g.61736639A>G, NG_008346.1:g.3494T>C, NM_001013667.1:c.*569A>G

Select item 14878659993.

rs1487865999 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:61966953 (GRCh38)
11:61734425 (GRCh37)
Canonical SPDI:: NC_000011.10:61966952:G:A
Gene:: FTH1 (Varview), LOC399900 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.61966953G>A, NC_000011.9:g.61734425G>A, NG_008346.1:g.5708C>T

Select item 14878432194.

rs1487843219 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:61968059 (GRCh38)
11:61735531 (GRCh37)
Canonical SPDI:: NC_000011.10:61968058:C:T
Gene:: FTH1 (Varview), LOC399900 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000011/3 (TOPMED)
T=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.61968059C>T, NC_000011.9:g.61735531C>T, NG_008346.1:g.4602G>A, XR_247232.5:n.277C>T, XR_247232.4:n.262C>T, XR_247232.3:n.262C>T, XR_247232.2:n.322C>T, XR_247232.1:n.260C>T, NM_001013667.1:c.-60C>T

Select item 14878367235.

rs1487836723 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:61968753 (GRCh38)
11:61736225 (GRCh37)
Canonical SPDI:: NC_000011.10:61968752:C:T
Gene:: FTH1 (Varview), LOC399900 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000011.10:g.61968753C>T, NC_000011.9:g.61736225C>T, NG_008346.1:g.3908G>A, XR_247232.5:n.971C>T, XR_247232.4:n.956C>T, XR_247232.3:n.956C>T, XR_247232.2:n.1016C>T, XR_247232.1:n.954C>T, NM_001013667.1:c.*155C>T

Select item 14875466086.

rs1487546608 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:61966014 (GRCh38)
11:61733486 (GRCh37)
Canonical SPDI:: NC_000011.10:61966013:C:G,NC_000011.10:61966013:C:T
Gene:: FTH1 (Varview), BEST1 (Varview), LOC399900 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.61966014C>G, NC_000011.10:g.61966014C>T, NC_000011.9:g.61733486C>G, NC_000011.9:g.61733486C>T, NG_009033.1:g.21131C>G, NG_009033.1:g.21131C>T, NG_008346.1:g.6647G>C, NG_008346.1:g.6647G>A

Select item 14874574887.

rs1487457488 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:61968401 (GRCh38)
11:61735873 (GRCh37)
Canonical SPDI:: NC_000011.10:61968400:C:T
Gene:: FTH1 (Varview), LOC399900 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.61968401C>T, NC_000011.9:g.61735873C>T, NG_008346.1:g.4260G>A, XR_247232.5:n.619C>T, XR_247232.4:n.604C>T, XR_247232.3:n.604C>T, XR_247232.2:n.664C>T, XR_247232.1:n.602C>T, NM_001013667.1:c.298C>T

Select item 14874347168.

rs1487434716 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:61967860 (GRCh38)
11:61735332 (GRCh37)
Canonical SPDI:: NC_000011.10:61967859:A:C
Gene:: FTH1 (Varview), LOC399900 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00003/8 (TOPMED)
C=0.000043/6 (GnomAD)
HGVS:: NC_000011.10:g.61967860A>C, NC_000011.9:g.61735332A>C, NG_008346.1:g.4801T>G, XR_247232.5:n.78A>C, XR_247232.4:n.63A>C, XR_247232.3:n.63A>C, XR_247232.2:n.123A>C, XR_247232.1:n.61A>C, NM_001013667.1:c.-259A>C

Select item 14858386089.

rs1485838608 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 11:61964156 (GRCh38)
11:61731628 (GRCh37)
Canonical SPDI:: NC_000011.10:61964155:G:C,NC_000011.10:61964155:G:T
Gene:: FTH1 (Varview), BEST1 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.61964156G>C, NC_000011.10:g.61964156G>T, NC_000011.9:g.61731628G>C, NC_000011.9:g.61731628G>T, NG_009033.1:g.19273G>C, NG_009033.1:g.19273G>T, NM_004183.4:c.*34G>C, NM_004183.4:c.*34G>T, NM_004183.3:c.*34G>C, NM_004183.3:c.*34G>T, NM_001363593.2:c.*1007G>C, NM_001363593.2:c.*1007G>T, NM_001363593.1:c.*1007G>C, NM_001363593.1:c.*1007G>T, NM_001139443.2:c.*1007G>C, NM_001139443.2:c.*1007G>T, NM_001363591.2:c.*1007G>C, NM_001363591.2:c.*1007G>T, NM_001363591.1:c.*1007G>C, NM_001363591.1:c.*1007G>T, NR_134580.2:n.2108G>C, NR_134580.2:n.2108G>T, NR_134580.1:n.2575G>C, NR_134580.1:n.2575G>T, NM_001300787.2:c.*34G>C, NM_001300787.2:c.*34G>T, NM_001300787.1:c.*34G>C, NM_001300787.1:c.*34G>T, NM_001300786.2:c.*34G>C, NM_001300786.2:c.*34G>T, NM_001300786.1:c.*34G>C, NM_001300786.1:c.*34G>T, NM_001363592.1:c.*1897G>C, NM_001363592.1:c.*1897G>T, NG_008346.1:g.8505C>G, NG_008346.1:g.8505C>A, XM_005274210.5:c.*1007G>C, XM_005274210.5:c.*1007G>T, XM_005274210.4:c.*1007G>C, XM_005274210.4:c.*1007G>T, XM_005274210.3:c.*1007G>C, XM_005274210.3:c.*1007G>T, XM_005274210.2:c.*1007G>C, XM_005274210.2:c.*1007G>T, XM_005274210.1:c.*1007G>C, XM_005274210.1:c.*1007G>T, XM_005274221.5:c.*1803G>C, XM_005274221.5:c.*1803G>T, XM_005274221.4:c.*1803G>C, XM_005274221.4:c.*1803G>T, XM_005274221.3:c.*1803G>C, XM_005274221.3:c.*1803G>T, XM_047427523.1:c.*34G>C, XM_047427523.1:c.*34G>T

Select item 148506217410.

rs1485062174 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:61964894 (GRCh38)
11:61732366 (GRCh37)
Canonical SPDI:: NC_000011.10:61964893:G:A
Gene:: FTH1 (Varview), BEST1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.61964894G>A, NC_000011.9:g.61732366G>A, NG_009033.1:g.20011G>A, NM_001363593.2:c.*1745G>A, NM_001139443.2:c.*1745G>A, NM_001363591.2:c.*1745G>A, NG_008346.1:g.7767C>T, XM_005274210.5:c.*1745G>A, XM_005274221.5:c.*2541G>A

Select item 148480125011.

rs1484801250 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:61967402 (GRCh38)
11:61734874 (GRCh37)
Canonical SPDI:: NC_000011.10:61967401:C:G
Gene:: FTH1 (Varview), LOC399900 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.61967402C>G, NC_000011.9:g.61734874C>G, NG_008346.1:g.5259G>C, NM_002032.3:c.24G>C, NM_002032.2:c.24G>C, NP_002023.2:p.Gln8His

Select item 148408434712.

rs1484084347 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAGGATCGTCTCAA>- [Show Flanks]
Chromosome:: 11:61963993 (GRCh38)
11:61731465 (GRCh37)
Canonical SPDI:: NC_000011.10:61963985:GTCTCAAAAAAAAAAAAAAAAGGATCGTCTCAA:GTCTCAA
Gene:: FTH1 (Varview), BEST1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: GTCTCAA=0./0 (ALFA)
-=0.000008/1 (GnomAD)
HGVS:: NC_000011.10:g.61963993_61964018del, NC_000011.9:g.61731465_61731490del, NG_009033.1:g.19110_19135del, NM_001363593.2:c.*844_*869del, NM_001363593.1:c.*844_*869del, NM_001139443.2:c.*844_*869del, NM_001363591.2:c.*844_*869del, NM_001363591.1:c.*844_*869del, NM_001363592.1:c.*1734_*1759del, NG_008346.1:g.8650_8675del, XM_005274210.5:c.*844_*869del, XM_005274210.4:c.*844_*869del, XM_005274210.3:c.*844_*869del, XM_005274210.2:c.*844_*869del, XM_005274210.1:c.*844_*869del, XM_005274221.5:c.*1640_*1665del, XM_005274221.4:c.*1640_*1665del, XM_005274221.3:c.*1640_*1665del

Select item 148404957513.

rs1484049575 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:61966916 (GRCh38)
11:61734388 (GRCh37)
Canonical SPDI:: NC_000011.10:61966915:C:A,NC_000011.10:61966915:C:T
Gene:: FTH1 (Varview), LOC399900 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.61966916C>A, NC_000011.10:g.61966916C>T, NC_000011.9:g.61734388C>A, NC_000011.9:g.61734388C>T, NG_008346.1:g.5745G>T, NG_008346.1:g.5745G>A

Select item 148235213714.

rs1482352137 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:61968143 (GRCh38)
11:61735615 (GRCh37)
Canonical SPDI:: NC_000011.10:61968142:T:C
Gene:: FTH1 (Varview), LOC399900 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.61968143T>C, NC_000011.9:g.61735615T>C, NG_008346.1:g.4518A>G, XR_247232.5:n.361T>C, XR_247232.4:n.346T>C, XR_247232.3:n.346T>C, XR_247232.2:n.406T>C, XR_247232.1:n.344T>C, NM_001013667.1:c.40T>C

Select item 148139717715.

rs1481397177 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:61968717 (GRCh38)
11:61736189 (GRCh37)
Canonical SPDI:: NC_000011.10:61968716:G:T
Gene:: FTH1 (Varview), LOC399900 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.61968717G>T, NC_000011.9:g.61736189G>T, NG_008346.1:g.3944C>A, XR_247232.5:n.935G>T, XR_247232.4:n.920G>T, XR_247232.3:n.920G>T, XR_247232.2:n.980G>T, XR_247232.1:n.918G>T, NM_001013667.1:c.*119G>T

Select item 148100284316.

rs1481002843 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGAAGAGGTGACGGAGGGCTGGCTATGGGCGG>- [Show Flanks]
Chromosome:: 11:61967514 (GRCh38)
11:61734986 (GRCh37)
Canonical SPDI:: NC_000011.10:61967512:GGTGAAGAGGTGACGGAGGGCTGGCTATGGGCGG:G
Gene:: FTH1 (Varview), LOC399900 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000011.10:g.61967514_61967546del, NC_000011.9:g.61734986_61735018del, NG_008346.1:g.5116_5148del, NM_002032.3:c.-120_-88del, NM_002032.2:c.-120_-88del

Select item 148085673717.

rs1480856737 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:61968735 (GRCh38)
11:61736207 (GRCh37)
Canonical SPDI:: NC_000011.10:61968734:C:G
Gene:: FTH1 (Varview), LOC399900 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000011.10:g.61968735C>G, NC_000011.9:g.61736207C>G, NG_008346.1:g.3926G>C, XR_247232.5:n.953C>G, XR_247232.4:n.938C>G, XR_247232.3:n.938C>G, XR_247232.2:n.998C>G, XR_247232.1:n.936C>G, NM_001013667.1:c.*137C>G

Select item 148075355618.

rs1480753556 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:61966371 (GRCh38)
11:61733843 (GRCh37)
Canonical SPDI:: NC_000011.10:61966370:T:C
Gene:: FTH1 (Varview), LOC399900 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.61966371T>C, NC_000011.9:g.61733843T>C, NG_009033.1:g.21488T>C, NG_008346.1:g.6290A>G

Select item 148056444219.

rs1480564442 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCT [Show Flanks]
Chromosome:: 11:61964385 (GRCh38)
11:61731858 (GRCh37)
Canonical SPDI:: NC_000011.10:61964385:TTCT:TTCTTCT
Gene:: FTH1 (Varview), BEST1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCTTCT=0./0 (ALFA)
TTC=0.000007/1 (GnomAD)
TTC=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.61964387_61964389dup, NC_000011.9:g.61731859_61731861dup, NG_009033.1:g.19504_19506dup, NM_004183.4:c.*265_*267dup, NM_004183.3:c.*265_*267dup, NM_001363593.2:c.*1238_*1240dup, NM_001363593.1:c.*1238_*1240dup, NM_001139443.2:c.*1238_*1240dup, NM_001363591.2:c.*1238_*1240dup, NM_001363591.1:c.*1238_*1240dup, NR_134580.2:n.2339_2341dup, NR_134580.1:n.2806_2808dup, NM_001300787.2:c.*265_*267dup, NM_001300787.1:c.*265_*267dup, NM_001300786.2:c.*265_*267dup, NM_001300786.1:c.*265_*267dup, NM_001363592.1:c.*2128_*2130dup, NG_008346.1:g.8273_8275dup, NM_002032.3:c.*339_*341dup, NM_002032.2:c.*339_*341dup, XM_005274210.5:c.*1238_*1240dup, XM_005274210.4:c.*1238_*1240dup, XM_005274210.3:c.*1238_*1240dup, XM_005274210.2:c.*1238_*1240dup, XM_005274210.1:c.*1238_*1240dup, XM_005274221.5:c.*2034_*2036dup, XM_005274221.4:c.*2034_*2036dup, XM_005274221.3:c.*2034_*2036dup, XM_047427523.1:c.*265_*267dup

Select item 148041376820.

rs1480413768 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:61969263 (GRCh38)
11:61736735 (GRCh37)
Canonical SPDI:: NC_000011.10:61969262:C:T
Gene:: FTH1 (Varview), LOC399900 (Varview)
Functional Consequence:: upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.61969263C>T, NC_000011.9:g.61736735C>T, NG_008346.1:g.3398G>A, NM_001013667.1:c.*665C>T

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dbSNP

Result Filters

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