SNP Links for Nucleotide (Select 51988913) - SNP

Links from Nucleotide

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Select item 14915232741.

rs1491523274 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GACATGCTGTCCGGACACACACACGCA [Show Flanks]
Chromosome:: 4:1026008 (GRCh38)
4:1019797 (GRCh37)
Canonical SPDI:: NC_000004.12:1026008:ACACACACACGCAGACATGCTGTCCGGACACACACACGCA:ACACACACACGCAGACATGCTGTCCGGACACACACACGCAGACATGCTGTCCGGACACACACACGCA
Gene:: FGFRL1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: ACACACACACGCAGACATGCTGTCCGG=0.000284/38 (GnomAD)
HGVS:: NC_000004.12:g.1026022_1026048dup, NC_000004.11:g.1019810_1019836dup, NM_001004356.3:c.*675_*701dup, NM_001004356.2:c.*675_*701dup, NM_021923.3:c.*675_*701dup, XM_024454092.2:c.*675_*701dup, XM_024454092.1:c.*675_*701dup, NM_001370296.1:c.*675_*701dup, NM_001004358.1:c.*675_*701dup

Select item 14913285612.

rs1491328561 has merged into rs528378155 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACAC>-,AC [Show Flanks]
Chromosome:: 4:1026221 (GRCh38)
4:1020009 (GRCh37)
Canonical SPDI:: NC_000004.12:1026218:ACACAC:AC,NC_000004.12:1026218:ACACAC:ACAC
Gene:: FGFRL1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AC=0./0 (ALFA)
-=0.000038/10 (TOPMED)
-=0.000106/2 (TOMMO)
-=0.000468/2 (1000Genomes)
HGVS:: NC_000004.12:g.1026219AC[1], NC_000004.12:g.1026219AC[2], NC_000004.11:g.1020007AC[1], NC_000004.11:g.1020007AC[2], NM_001004356.3:c.*872AC[1], NM_001004356.3:c.*872AC[2], NM_001004356.2:c.*872AC[1], NM_001004356.2:c.*872AC[2], NM_021923.3:c.*872AC[1], NM_021923.3:c.*872AC[2], XM_024454092.2:c.*872AC[1], XM_024454092.2:c.*872AC[2], XM_024454092.1:c.*872AC[1], XM_024454092.1:c.*872AC[2], NM_001370296.1:c.*872AC[1], NM_001370296.1:c.*872AC[2], NM_001004358.1:c.*872AC[1], NM_001004358.1:c.*872AC[2]

Select item 14911996863.

rs1491199686 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGCAGATATGCTGTCCGGATTCACACG [Show Flanks]
Chromosome:: 4:1026219 (GRCh38)
4:1020008 (GRCh37)
Canonical SPDI:: NC_000004.12:1026219:CACACG:CACACGTGCAGATATGCTGTCCGGATTCACACG
Gene:: FGFRL1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: CACACGTGCAGATATGCTGTCCGGATT=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.1026220_1026225CA[2]CGTGCAGATATGCTGTCCGGATTCACACG[1], NC_000004.11:g.1020008_1020013CA[2]CGTGCAGATATGCTGTCCGGATTCACACG[1], NM_001004356.3:c.*873_*878CA[2]CGTGCAGATATGCTGTCCGGATTCACACG[1], NM_001004356.2:c.*873_*878CA[2]CGTGCAGATATGCTGTCCGGATTCACACG[1], NM_021923.3:c.*873_*878CA[2]CGTGCAGATATGCTGTCCGGATTCACACG[1], XM_024454092.2:c.*873_*878CA[2]CGTGCAGATATGCTGTCCGGATTCACACG[1], XM_024454092.1:c.*873_*878CA[2]CGTGCAGATATGCTGTCCGGATTCACACG[1], NM_001370296.1:c.*873_*878CA[2]CGTGCAGATATGCTGTCCGGATTCACACG[1], NM_001004358.1:c.*873_*878CA[2]CGTGCAGATATGCTGTCCGGATTCACACG[1]

Select item 14909643644.

rs1490964364 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:1025115 (GRCh38)
4:1018903 (GRCh37)
Canonical SPDI:: NC_000004.12:1025114:G:A,NC_000004.12:1025114:G:T
Gene:: FGFRL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.1025115G>A, NC_000004.12:g.1025115G>T, NC_000004.11:g.1018903G>A, NC_000004.11:g.1018903G>T, NM_001004356.3:c.1283G>A, NM_001004356.3:c.1283G>T, NM_001004356.2:c.1283G>A, NM_001004356.2:c.1283G>T, NM_021923.3:c.1283G>A, NM_021923.3:c.1283G>T, XM_024454092.2:c.1352G>A, XM_024454092.2:c.1352G>T, XM_024454092.1:c.1352G>A, XM_024454092.1:c.1352G>T, NM_001370296.1:c.1283G>A, NM_001370296.1:c.1283G>T, NM_001004358.1:c.1283G>A, NM_001004358.1:c.1283G>T, NP_001004356.1:p.Gly428Glu, NP_001004356.1:p.Gly428Val, NP_068742.2:p.Gly428Glu, NP_068742.2:p.Gly428Val, XP_024309860.1:p.Gly451Glu, XP_024309860.1:p.Gly451Val, NP_001357225.1:p.Gly428Glu, NP_001357225.1:p.Gly428Val, NP_001004358.1:p.Gly428Glu, NP_001004358.1:p.Gly428Val

Select item 14903913635.

rs1490391363 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:1026125 (GRCh38)
4:1019913 (GRCh37)
Canonical SPDI:: NC_000004.12:1026124:A:G
Gene:: FGFRL1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000004.12:g.1026125A>G, NC_000004.11:g.1019913A>G, NM_001004356.3:c.*778A>G, NM_001004356.2:c.*778A>G, NM_021923.3:c.*778A>G, XM_024454092.2:c.*778A>G, XM_024454092.1:c.*778A>G, NM_001370296.1:c.*778A>G, NM_001004358.1:c.*778A>G

Select item 14902554496.

rs1490255449 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:1025541 (GRCh38)
4:1019329 (GRCh37)
Canonical SPDI:: NC_000004.12:1025540:C:G
Gene:: FGFRL1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000004.12:g.1025541C>G, NC_000004.11:g.1019329C>G, NM_001004356.3:c.*194C>G, NM_001004356.2:c.*194C>G, NM_021923.3:c.*194C>G, XM_024454092.2:c.*194C>G, XM_024454092.1:c.*194C>G, NM_001370296.1:c.*194C>G, NM_001004358.1:c.*194C>G

Select item 14902296457.

rs1490229645 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:1025936 (GRCh38)
4:1019724 (GRCh37)
Canonical SPDI:: NC_000004.12:1025935:G:A,NC_000004.12:1025935:G:T
Gene:: FGFRL1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.1025936G>A, NC_000004.12:g.1025936G>T, NC_000004.11:g.1019724G>A, NC_000004.11:g.1019724G>T, NM_001004356.3:c.*589G>A, NM_001004356.3:c.*589G>T, NM_001004356.2:c.*589G>A, NM_001004356.2:c.*589G>T, NM_021923.3:c.*589G>A, NM_021923.3:c.*589G>T, XM_024454092.2:c.*589G>A, XM_024454092.2:c.*589G>T, XM_024454092.1:c.*589G>A, XM_024454092.1:c.*589G>T, NM_001370296.1:c.*589G>A, NM_001370296.1:c.*589G>T, NM_001004358.1:c.*589G>A, NM_001004358.1:c.*589G>T

Select item 14888094808.

rs1488809480 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:1025024 (GRCh38)
4:1018812 (GRCh37)
Canonical SPDI:: NC_000004.12:1025023:C:G
Gene:: FGFRL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.1025024C>G, NC_000004.11:g.1018812C>G, NM_001004356.3:c.1192C>G, NM_001004356.2:c.1192C>G, NM_021923.3:c.1192C>G, XM_024454092.2:c.1261C>G, XM_024454092.1:c.1261C>G, NM_001370296.1:c.1192C>G, NM_001004358.1:c.1192C>G, NP_001004356.1:p.Leu398Val, NP_068742.2:p.Leu398Val, XP_024309860.1:p.Leu421Val, NP_001357225.1:p.Leu398Val, NP_001004358.1:p.Leu398Val

Select item 14879569899.

rs1487956989 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:1024634 (GRCh38)
4:1018422 (GRCh37)
Canonical SPDI:: NC_000004.12:1024633:T:G
Gene:: FGFRL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.1024634T>G, NC_000004.11:g.1018422T>G, NM_001004356.3:c.1042T>G, NM_001004356.2:c.1042T>G, NM_021923.3:c.1042T>G, XM_024454092.2:c.1111T>G, XM_024454092.1:c.1111T>G, NM_001370296.1:c.1042T>G, NM_001004358.1:c.1042T>G, NP_001004356.1:p.Phe348Val, NP_068742.2:p.Phe348Val, XP_024309860.1:p.Phe371Val, NP_001357225.1:p.Phe348Val, NP_001004358.1:p.Phe348Val

Select item 148671018310.

rs1486710183 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:1026746 (GRCh38)
4:1020534 (GRCh37)
Canonical SPDI:: NC_000004.12:1026745:A:G
Gene:: FGFRL1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.1026746A>G, NC_000004.11:g.1020534A>G, NM_001004356.3:c.*1399A>G, NM_001004356.2:c.*1399A>G, NM_021923.3:c.*1399A>G, XM_024454092.2:c.*1399A>G, XM_024454092.1:c.*1399A>G, NM_001370296.1:c.*1399A>G, NM_001004358.1:c.*1399A>G

Select item 148569674211.

rs1485696742 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:1025756 (GRCh38)
4:1019544 (GRCh37)
Canonical SPDI:: NC_000004.12:1025755:C:T
Gene:: FGFRL1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000034/9 (TOPMED)
T=0.000043/6 (GnomAD)
HGVS:: NC_000004.12:g.1025756C>T, NC_000004.11:g.1019544C>T, NM_001004356.3:c.*409C>T, NM_001004356.2:c.*409C>T, NM_021923.3:c.*409C>T, XM_024454092.2:c.*409C>T, XM_024454092.1:c.*409C>T, NM_001370296.1:c.*409C>T, NM_001004358.1:c.*409C>T

Select item 148525969312.

rs1485259693 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGGACATGCTGCCTGAACATACA>- [Show Flanks]
Chromosome:: 4:1025674 (GRCh38)
4:1019462 (GRCh37)
Canonical SPDI:: NC_000004.12:1025664:GAACATACAAGGACATGCTGCCTGAACATACA:GAACATACA
Gene:: FGFRL1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAACATACA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.1025674_1025696del, NC_000004.11:g.1019462_1019484del, NM_001004356.3:c.*327_*349del, NM_001004356.2:c.*327_*349del, NM_021923.3:c.*327_*349del, XM_024454092.2:c.*327_*349del, XM_024454092.1:c.*327_*349del, NM_001370296.1:c.*327_*349del, NM_001004358.1:c.*327_*349del

Select item 148509806313.

rs1485098063 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:1023837 (GRCh38)
4:1017625 (GRCh37)
Canonical SPDI:: NC_000004.12:1023836:C:T
Gene:: FGFRL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.1023837C>T, NC_000004.11:g.1017625C>T, NM_001004356.3:c.454C>T, NM_001004356.2:c.454C>T, NM_021923.3:c.454C>T, XM_024454092.2:c.523C>T, XM_024454092.1:c.523C>T, NM_001370296.1:c.454C>T, NM_001004358.1:c.454C>T, NP_001004356.1:p.Pro152Ser, NP_068742.2:p.Pro152Ser, XP_024309860.1:p.Pro175Ser, NP_001357225.1:p.Pro152Ser, NP_001004358.1:p.Pro152Ser

Select item 148484006214.

rs1484840062 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 4:1026607 (GRCh38)
4:1020395 (GRCh37)
Canonical SPDI:: NC_000004.12:1026606:A:G,NC_000004.12:1026606:A:T
Gene:: FGFRL1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000036/5 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000004.12:g.1026607A>G, NC_000004.12:g.1026607A>T, NC_000004.11:g.1020395A>G, NC_000004.11:g.1020395A>T, NM_001004356.3:c.*1260A>G, NM_001004356.3:c.*1260A>T, NM_001004356.2:c.*1260A>G, NM_001004356.2:c.*1260A>T, NM_021923.3:c.*1260A>G, NM_021923.3:c.*1260A>T, XM_024454092.2:c.*1260A>G, XM_024454092.2:c.*1260A>T, XM_024454092.1:c.*1260A>G, XM_024454092.1:c.*1260A>T, NM_001370296.1:c.*1260A>G, NM_001370296.1:c.*1260A>T, NM_001004358.1:c.*1260A>G, NM_001004358.1:c.*1260A>T

Select item 148408972415.

rs1484089724 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:1026446 (GRCh38)
4:1020234 (GRCh37)
Canonical SPDI:: NC_000004.12:1026445:C:T
Gene:: FGFRL1 (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=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.1026446C>T, NC_000004.11:g.1020234C>T, NM_001004356.3:c.*1099C>T, NM_001004356.2:c.*1099C>T, NM_021923.3:c.*1099C>T, XM_024454092.2:c.*1099C>T, XM_024454092.1:c.*1099C>T, NM_001370296.1:c.*1099C>T, NM_001004358.1:c.*1099C>T

Select item 148379861516.

rs1483798615 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:1025764 (GRCh38)
4:1019552 (GRCh37)
Canonical SPDI:: NC_000004.12:1025763:A:G
Gene:: FGFRL1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000023/3 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000004.12:g.1025764A>G, NC_000004.11:g.1019552A>G, NM_001004356.3:c.*417A>G, NM_001004356.2:c.*417A>G, NM_021923.3:c.*417A>G, XM_024454092.2:c.*417A>G, XM_024454092.1:c.*417A>G, NM_001370296.1:c.*417A>G, NM_001004358.1:c.*417A>G

Select item 148364014017.

rs1483640140 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:1012480 (GRCh38)
4:1006268 (GRCh37)
Canonical SPDI:: NC_000004.12:1012479:G:A
Gene:: FGFRL1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.00007/2 (ALFA)
HGVS:: NC_000004.12:g.1012480G>A, NC_000004.11:g.1006268G>A, NM_001004356.3:c.-6G>A, NM_001004356.2:c.-6G>A, NM_021923.3:c.-6G>A, XM_024454092.2:c.64G>A, XM_024454092.1:c.64G>A, NM_001370296.1:c.-6G>A, NM_001004358.1:c.-6G>A, XP_024309860.1:p.Ala22Thr

Select item 148347041618.

rs1483470416 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:1025578 (GRCh38)
4:1019366 (GRCh37)
Canonical SPDI:: NC_000004.12:1025577:C:T
Gene:: FGFRL1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/2 (GnomAD)
T=0.00003/8 (TOPMED)
T=0.000177/3 (TOMMO)
HGVS:: NC_000004.12:g.1025578C>T, NC_000004.11:g.1019366C>T, NM_001004356.3:c.*231C>T, NM_001004356.2:c.*231C>T, NM_021923.3:c.*231C>T, XM_024454092.2:c.*231C>T, XM_024454092.1:c.*231C>T, NM_001370296.1:c.*231C>T, NM_001004358.1:c.*231C>T

Select item 148209353819.

rs1482093538 has merged into rs1338733021 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGTCCCCGCCTCCATCCCCGCCTC>-,AGTCCCCGCCTCCATCCCCGCCTCAGTCCCCGCCTCCATCCCCGCCTC [Show Flanks]
Chromosome:: 4:1026443 (GRCh38)
4:1020231 (GRCh37)
Canonical SPDI:: NC_000004.12:1026432:TCCCCGCCTCAGTCCCCGCCTCCATCCCCGCCTC:TCCCCGCCTC,NC_000004.12:1026432:TCCCCGCCTCAGTCCCCGCCTCCATCCCCGCCTC:TCCCCGCCTCAGTCCCCGCCTCCATCCCCGCCTCAGTCCCCGCCTCCATCCCCGCCTC
Gene:: FGFRL1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCCCCGCCTC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
TCCCCGCCTCAGTCCCCGCCTCCA=0.000065/9 (GnomAD)
TCCCCGCCTCAGTCCCCGCCTCCA=0.00131/22 (TOMMO)
HGVS:: NC_000004.12:g.1026443_1026466del, NC_000004.12:g.1026443_1026466dup, NC_000004.11:g.1020231_1020254del, NC_000004.11:g.1020231_1020254dup, NM_001004356.3:c.*1096_*1119del, NM_001004356.3:c.*1096_*1119dup, NM_001004356.2:c.*1096_*1119del, NM_001004356.2:c.*1096_*1119dup, NM_021923.3:c.*1096_*1119del, NM_021923.3:c.*1096_*1119dup, XM_024454092.2:c.*1096_*1119del, XM_024454092.2:c.*1096_*1119dup, XM_024454092.1:c.*1096_*1119del, XM_024454092.1:c.*1096_*1119dup, NM_001370296.1:c.*1096_*1119del, NM_001370296.1:c.*1096_*1119dup, NM_001004358.1:c.*1096_*1119del, NM_001004358.1:c.*1096_*1119dup

Select item 148188976120.

rs1481889761 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:1022435 (GRCh38)
4:1016223 (GRCh37)
Canonical SPDI:: NC_000004.12:1022434:C:T
Gene:: FGFRL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.1022435C>T, NC_000004.11:g.1016223C>T, NM_001004356.3:c.312C>T, NM_001004356.2:c.312C>T, NM_021923.3:c.312C>T, XM_024454092.2:c.381C>T, XM_024454092.1:c.381C>T, NM_001370296.1:c.312C>T, NM_001004358.1:c.312C>T

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