SNP Links for Gene (Select 10922) - SNP

Select item 14897190502.

rs1489719050 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:151081539 (GRCh38)
7:150778626 (GRCh37)
Canonical SPDI:: NC_000007.14:151081538:C:G
Gene:: FASTK (Varview), TMUB1 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.151081539C>G, NC_000007.13:g.150778626C>G, NG_053086.1:g.709C>G, NM_031434.4:c.*10G>C, NM_031434.3:c.*10G>C, NM_001136044.2:c.*10G>C, NM_001136044.1:c.*10G>C

Select item 14896503573.

rs1489650357 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:151079072 (GRCh38)
7:150776159 (GRCh37)
Canonical SPDI:: NC_000007.14:151079071:C:A
Gene:: FASTK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000007.14:g.151079072C>A, NC_000007.13:g.150776159C>A

Select item 14887855704.

rs1488785570 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 7:151078958 (GRCh38)
7:150776045 (GRCh37)
Canonical SPDI:: NC_000007.14:151078957:GG:G
Gene:: FASTK (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.151078959del, NC_000007.13:g.150776046del, NM_006712.5:c.569del, NM_006712.4:c.569del, XM_011515761.4:c.569del, XM_011515761.3:c.569del, XM_011515761.2:c.569del, XM_011515761.1:c.569del, XM_011515762.4:c.569del, XM_011515762.3:c.569del, XM_011515762.2:c.569del, XM_011515762.1:c.569del, NM_033015.4:c.146del, NM_033015.3:c.146del, XM_017011705.3:c.146del, XM_017011705.2:c.146del, XM_017011705.1:c.146del, XM_005249932.2:c.467del, XM_005249932.1:c.467del, NM_001258461.2:c.569del, NM_001258461.1:c.569del, XM_011515763.2:c.146del, XM_011515763.1:c.146del, XM_047419830.1:c.467del, XM_047419828.1:c.569del, XM_047419831.1:c.146del, NP_006703.1:p.Pro190fs, XP_011514063.1:p.Pro190fs, XP_011514064.1:p.Pro190fs, NP_148936.2:p.Pro49fs, XP_016867194.1:p.Pro49fs, XP_005249989.1:p.Pro156fs, NP_001245390.1:p.Pro190fs, XP_011514065.1:p.Pro49fs, XP_047275786.1:p.Pro156fs, XP_047275784.1:p.Pro190fs, XP_047275787.1:p.Pro49fs

Select item 14878565125.

rs1487856512 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:151078419 (GRCh38)
7:150775506 (GRCh37)
Canonical SPDI:: NC_000007.14:151078418:G:A
Gene:: FASTK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000007.14:g.151078419G>A, NC_000007.13:g.150775506G>A, NG_051947.1:g.25220G>A

Select item 14877831916.

rs1487783191 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:151077942 (GRCh38)
7:150775029 (GRCh37)
Canonical SPDI:: NC_000007.14:151077941:G:A
Gene:: FASTK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.151077942G>A, NC_000007.13:g.150775029G>A, NG_051947.1:g.24743G>A, NM_006712.5:c.976C>T, NM_006712.4:c.976C>T, XM_011515761.4:c.976C>T, XM_011515761.3:c.976C>T, XM_011515761.2:c.976C>T, XM_011515761.1:c.976C>T, XM_011515762.4:c.976C>T, XM_011515762.3:c.976C>T, XM_011515762.2:c.976C>T, XM_011515762.1:c.976C>T, NM_033015.4:c.553C>T, NM_033015.3:c.553C>T, XM_017011705.3:c.553C>T, XM_017011705.2:c.553C>T, XM_017011705.1:c.553C>T, XM_005249932.2:c.874C>T, XM_005249932.1:c.874C>T, NM_001258461.2:c.895C>T, NM_001258461.1:c.895C>T, XM_011515763.2:c.472C>T, XM_011515763.1:c.472C>T, NM_025096.1:c.*74C>T, XM_047419830.1:c.793C>T, XM_047419828.1:c.895C>T, XM_047419831.1:c.553C>T, NP_006703.1:p.Arg326Trp, XP_011514063.1:p.Arg326Trp, XP_011514064.1:p.Arg326Trp, NP_148936.2:p.Arg185Trp, XP_016867194.1:p.Arg185Trp, XP_005249989.1:p.Arg292Trp, NP_001245390.1:p.Arg299Trp, XP_011514065.1:p.Arg158Trp, XP_047275786.1:p.Arg265Trp, XP_047275784.1:p.Arg299Trp, XP_047275787.1:p.Arg185Trp

Select item 14868937077.

rs1486893707 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:151081750 (GRCh38)
7:150778837 (GRCh37)
Canonical SPDI:: NC_000007.14:151081749:G:A,NC_000007.14:151081749:G:T
Gene:: FASTK (Varview), TMUB1 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
HGVS:: NC_000007.14:g.151081750G>A, NC_000007.14:g.151081750G>T, NC_000007.13:g.150778837G>A, NC_000007.13:g.150778837G>T, NG_053086.1:g.920G>A, NG_053086.1:g.920G>T, NG_075766.1:g.29G>A, NG_075766.1:g.29G>T, NM_031434.4:c.540C>T, NM_031434.4:c.540C>A, NM_031434.3:c.540C>T, NM_031434.3:c.540C>A, NM_001136044.2:c.540C>T, NM_001136044.2:c.540C>A, NM_001136044.1:c.540C>T, NM_001136044.1:c.540C>A

Select item 14864602368.

rs1486460236 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 7:151080753 (GRCh38)
7:150777840 (GRCh37)
Canonical SPDI:: NC_000007.14:151080752:C:A,NC_000007.14:151080752:C:G,NC_000007.14:151080752:C:T
Gene:: FASTK (Varview), TMUB1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,downstream_transcript_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000007.14:g.151080753C>A, NC_000007.14:g.151080753C>G, NC_000007.14:g.151080753C>T, NC_000007.13:g.150777840C>A, NC_000007.13:g.150777840C>G, NC_000007.13:g.150777840C>T, NM_006712.5:c.14G>T, NM_006712.5:c.14G>C, NM_006712.5:c.14G>A, NM_006712.4:c.14G>T, NM_006712.4:c.14G>C, NM_006712.4:c.14G>A, XM_011515761.4:c.14G>T, XM_011515761.4:c.14G>C, XM_011515761.4:c.14G>A, XM_011515761.3:c.14G>T, XM_011515761.3:c.14G>C, XM_011515761.3:c.14G>A, XM_011515761.2:c.14G>T, XM_011515761.2:c.14G>C, XM_011515761.2:c.14G>A, XM_011515761.1:c.14G>T, XM_011515761.1:c.14G>C, XM_011515761.1:c.14G>A, XM_011515762.4:c.14G>T, XM_011515762.4:c.14G>C, XM_011515762.4:c.14G>A, XM_011515762.3:c.14G>T, XM_011515762.3:c.14G>C, XM_011515762.3:c.14G>A, XM_011515762.2:c.14G>T, XM_011515762.2:c.14G>C, XM_011515762.2:c.14G>A, XM_011515762.1:c.14G>T, XM_011515762.1:c.14G>C, XM_011515762.1:c.14G>A, NM_033015.4:c.14G>T, NM_033015.4:c.14G>C, NM_033015.4:c.14G>A, NM_033015.3:c.14G>T, NM_033015.3:c.14G>C, NM_033015.3:c.14G>A, XM_017011705.3:c.14G>T, XM_017011705.3:c.14G>C, XM_017011705.3:c.14G>A, XM_017011705.2:c.14G>T, XM_017011705.2:c.14G>C, XM_017011705.2:c.14G>A, XM_017011705.1:c.14G>T, XM_017011705.1:c.14G>C, XM_017011705.1:c.14G>A, NM_001258461.2:c.14G>T, NM_001258461.2:c.14G>C, NM_001258461.2:c.14G>A, NM_001258461.1:c.14G>T, NM_001258461.1:c.14G>C, NM_001258461.1:c.14G>A, XM_011515763.2:c.14G>T, XM_011515763.2:c.14G>C, XM_011515763.2:c.14G>A, XM_011515763.1:c.14G>T, XM_011515763.1:c.14G>C, XM_011515763.1:c.14G>A, NM_025096.1:c.-565G>T, NM_025096.1:c.-565G>C, NM_025096.1:c.-565G>A, XM_047419830.1:c.-851G>T, XM_047419830.1:c.-851G>C, XM_047419830.1:c.-851G>A, XM_047419828.1:c.14G>T, XM_047419828.1:c.14G>C, XM_047419828.1:c.14G>A, XM_047419831.1:c.14G>T, XM_047419831.1:c.14G>C, XM_047419831.1:c.14G>A, NP_006703.1:p.Arg5Leu, NP_006703.1:p.Arg5Pro, NP_006703.1:p.Arg5Gln, XP_011514063.1:p.Arg5Leu, XP_011514063.1:p.Arg5Pro, XP_011514063.1:p.Arg5Gln, XP_011514064.1:p.Arg5Leu, XP_011514064.1:p.Arg5Pro, XP_011514064.1:p.Arg5Gln, NP_148936.2:p.Arg5Leu, NP_148936.2:p.Arg5Pro, NP_148936.2:p.Arg5Gln, XP_016867194.1:p.Arg5Leu, XP_016867194.1:p.Arg5Pro, XP_016867194.1:p.Arg5Gln, NP_001245390.1:p.Arg5Leu, NP_001245390.1:p.Arg5Pro, NP_001245390.1:p.Arg5Gln, XP_011514065.1:p.Arg5Leu, XP_011514065.1:p.Arg5Pro, XP_011514065.1:p.Arg5Gln, XP_047275784.1:p.Arg5Leu, XP_047275784.1:p.Arg5Pro, XP_047275784.1:p.Arg5Gln, XP_047275787.1:p.Arg5Leu, XP_047275787.1:p.Arg5Pro, XP_047275787.1:p.Arg5Gln

Select item 14862173429.

rs1486217342 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCAGAGCTGCTGGCGCACAGCA>- [Show Flanks]
Chromosome:: 7:151077209 (GRCh38)
7:150774296 (GRCh37)
Canonical SPDI:: NC_000007.14:151077200:GCACAGCACCAGAGCTGCTGGCGCACAGCA:GCACAGCA
Gene:: FASTK (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GCACAGCA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.151077209_151077230del, NC_000007.13:g.150774296_150774317del, NG_051947.1:g.24010_24031del, NM_006712.5:c.1306_1327del, NM_006712.4:c.1306_1327del, XM_011515761.4:c.1306_1327del, XM_011515761.3:c.1306_1327del, XM_011515761.2:c.1306_1327del, XM_011515761.1:c.1306_1327del, NM_033015.4:c.883_904del, NM_033015.3:c.883_904del, XM_017011705.3:c.883_904del, XM_017011705.2:c.883_904del, XM_017011705.1:c.883_904del, XM_005249932.2:c.1204_1225del, XM_005249932.1:c.1204_1225del, NM_001258461.2:c.1225_1246del, NM_001258461.1:c.1225_1246del, XM_011515763.2:c.802_823del, XM_011515763.1:c.802_823del, NM_025096.1:c.*794_*815del, XM_047419828.1:c.1225_1246del, NP_006703.1:p.Ala436fs, XP_011514063.1:p.Ala436fs, NP_148936.2:p.Ala295fs, XP_016867194.1:p.Ala295fs, XP_005249989.1:p.Ala402fs, NP_001245390.1:p.Ala409fs, XP_011514065.1:p.Ala268fs, XP_047275784.1:p.Ala409fs

Select item 148505651910.

rs1485056519 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:151080421 (GRCh38)
7:150777508 (GRCh37)
Canonical SPDI:: NC_000007.14:151080420:G:A
Gene:: FASTK (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000038/10 (TOPMED)
HGVS:: NC_000007.14:g.151080421G>A, NC_000007.13:g.150777508G>A, NM_025096.1:c.-233C>T, XM_047419830.1:c.-519C>T

Select item 148383030411.

rs1483830304 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:151079521 (GRCh38)
7:150776608 (GRCh37)
Canonical SPDI:: NC_000007.14:151079520:G:C
Gene:: FASTK (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.151079521G>C, NC_000007.13:g.150776608G>C, NM_006712.5:c.484C>G, NM_006712.4:c.484C>G, XM_011515761.4:c.484C>G, XM_011515761.3:c.484C>G, XM_011515761.2:c.484C>G, XM_011515761.1:c.484C>G, XM_011515762.4:c.484C>G, XM_011515762.3:c.484C>G, XM_011515762.2:c.484C>G, XM_011515762.1:c.484C>G, XM_005249932.2:c.382C>G, XM_005249932.1:c.382C>G, NM_001258461.2:c.484C>G, NM_001258461.1:c.484C>G, NM_025096.1:c.382C>G, XM_047419830.1:c.382C>G, XM_047419828.1:c.484C>G, NP_006703.1:p.Leu162Val, XP_011514063.1:p.Leu162Val, XP_011514064.1:p.Leu162Val, XP_005249989.1:p.Leu128Val, NP_001245390.1:p.Leu162Val, XP_047275786.1:p.Leu128Val, XP_047275784.1:p.Leu162Val

Select item 148372725212.

rs1483727252 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:151078035 (GRCh38)
7:150775122 (GRCh37)
Canonical SPDI:: NC_000007.14:151078034:G:A
Gene:: FASTK (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.151078035G>A, NC_000007.13:g.150775122G>A, NG_051947.1:g.24836G>A, NM_006712.5:c.883C>T, NM_006712.4:c.883C>T, XM_011515761.4:c.883C>T, XM_011515761.3:c.883C>T, XM_011515761.2:c.883C>T, XM_011515761.1:c.883C>T, XM_011515762.4:c.883C>T, XM_011515762.3:c.883C>T, XM_011515762.2:c.883C>T, XM_011515762.1:c.883C>T, NM_033015.4:c.460C>T, NM_033015.3:c.460C>T, XM_017011705.3:c.460C>T, XM_017011705.2:c.460C>T, XM_017011705.1:c.460C>T, XM_005249932.2:c.781C>T, XM_005249932.1:c.781C>T, NM_001258461.2:c.802C>T, NM_001258461.1:c.802C>T, XM_011515763.2:c.379C>T, XM_011515763.1:c.379C>T, NM_025096.1:c.461C>T, XM_047419830.1:c.700C>T, XM_047419828.1:c.802C>T, XM_047419831.1:c.460C>T, NP_006703.1:p.Gln295Ter, XP_011514063.1:p.Gln295Ter, XP_011514064.1:p.Gln295Ter, NP_148936.2:p.Gln154Ter, XP_016867194.1:p.Gln154Ter, XP_005249989.1:p.Gln261Ter, NP_001245390.1:p.Gln268Ter, XP_011514065.1:p.Gln127Ter, XP_047275786.1:p.Gln234Ter, XP_047275784.1:p.Gln268Ter, XP_047275787.1:p.Gln154Ter

Select item 148343586113.

rs1483435861 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:151081964 (GRCh38)
7:150779051 (GRCh37)
Canonical SPDI:: NC_000007.14:151081963:A:G
Gene:: FASTK (Varview), TMUB1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
G=0.000036/5 (GnomAD)
HGVS:: NC_000007.14:g.151081964A>G, NC_000007.13:g.150779051A>G, NG_053086.1:g.1134A>G, NG_075766.1:g.243A>G

Select item 148341874314.

rs1483418743 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:151079617 (GRCh38)
7:150776704 (GRCh37)
Canonical SPDI:: NC_000007.14:151079616:G:A
Gene:: FASTK (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.151079617G>A, NC_000007.13:g.150776704G>A, NM_006712.5:c.388C>T, NM_006712.4:c.388C>T, XM_011515761.4:c.388C>T, XM_011515761.3:c.388C>T, XM_011515761.2:c.388C>T, XM_011515761.1:c.388C>T, XM_011515762.4:c.388C>T, XM_011515762.3:c.388C>T, XM_011515762.2:c.388C>T, XM_011515762.1:c.388C>T, XM_005249932.2:c.286C>T, XM_005249932.1:c.286C>T, NM_001258461.2:c.388C>T, NM_001258461.1:c.388C>T, NM_025096.1:c.286C>T, XM_047419830.1:c.286C>T, XM_047419828.1:c.388C>T, NP_006703.1:p.Arg130Trp, XP_011514063.1:p.Arg130Trp, XP_011514064.1:p.Arg130Trp, XP_005249989.1:p.Arg96Trp, NP_001245390.1:p.Arg130Trp, XP_047275786.1:p.Arg96Trp, XP_047275784.1:p.Arg130Trp

Select item 148336716115.

rs1483367161 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 7:151078052 (GRCh38)
7:150775139 (GRCh37)
Canonical SPDI:: NC_000007.14:151078051:T:C,NC_000007.14:151078051:T:G
Gene:: FASTK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
G=0.004367/8 (Korea1K)
HGVS:: NC_000007.14:g.151078052T>C, NC_000007.14:g.151078052T>G, NC_000007.13:g.150775139T>C, NC_000007.13:g.150775139T>G, NG_051947.1:g.24853T>C, NG_051947.1:g.24853T>G, NM_006712.5:c.866A>G, NM_006712.5:c.866A>C, NM_006712.4:c.866A>G, NM_006712.4:c.866A>C, XM_011515761.4:c.866A>G, XM_011515761.4:c.866A>C, XM_011515761.3:c.866A>G, XM_011515761.3:c.866A>C, XM_011515761.2:c.866A>G, XM_011515761.2:c.866A>C, XM_011515761.1:c.866A>G, XM_011515761.1:c.866A>C, XM_011515762.4:c.866A>G, XM_011515762.4:c.866A>C, XM_011515762.3:c.866A>G, XM_011515762.3:c.866A>C, XM_011515762.2:c.866A>G, XM_011515762.2:c.866A>C, XM_011515762.1:c.866A>G, XM_011515762.1:c.866A>C, NM_033015.4:c.443A>G, NM_033015.4:c.443A>C, NM_033015.3:c.443A>G, NM_033015.3:c.443A>C, XM_017011705.3:c.443A>G, XM_017011705.3:c.443A>C, XM_017011705.2:c.443A>G, XM_017011705.2:c.443A>C, XM_017011705.1:c.443A>G, XM_017011705.1:c.443A>C, XM_005249932.2:c.764A>G, XM_005249932.2:c.764A>C, XM_005249932.1:c.764A>G, XM_005249932.1:c.764A>C, NM_001258461.2:c.785A>G, NM_001258461.2:c.785A>C, NM_001258461.1:c.785A>G, NM_001258461.1:c.785A>C, XM_011515763.2:c.362A>G, XM_011515763.2:c.362A>C, XM_011515763.1:c.362A>G, XM_011515763.1:c.362A>C, NM_025096.1:c.444A>G, NM_025096.1:c.444A>C, XM_047419830.1:c.683A>G, XM_047419830.1:c.683A>C, XM_047419828.1:c.785A>G, XM_047419828.1:c.785A>C, XM_047419831.1:c.443A>G, XM_047419831.1:c.443A>C, NP_006703.1:p.Tyr289Cys, NP_006703.1:p.Tyr289Ser, XP_011514063.1:p.Tyr289Cys, XP_011514063.1:p.Tyr289Ser, XP_011514064.1:p.Tyr289Cys, XP_011514064.1:p.Tyr289Ser, NP_148936.2:p.Tyr148Cys, NP_148936.2:p.Tyr148Ser, XP_016867194.1:p.Tyr148Cys, XP_016867194.1:p.Tyr148Ser, XP_005249989.1:p.Tyr255Cys, XP_005249989.1:p.Tyr255Ser, NP_001245390.1:p.Tyr262Cys, NP_001245390.1:p.Tyr262Ser, XP_011514065.1:p.Tyr121Cys, XP_011514065.1:p.Tyr121Ser, XP_047275786.1:p.Tyr228Cys, XP_047275786.1:p.Tyr228Ser, XP_047275784.1:p.Tyr262Cys, XP_047275784.1:p.Tyr262Ser, XP_047275787.1:p.Tyr148Cys, XP_047275787.1:p.Tyr148Ser

Select item 148233708616.

rs1482337086 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:151082568 (GRCh38)
7:150779655 (GRCh37)
Canonical SPDI:: NC_000007.14:151082567:C:A,NC_000007.14:151082567:C:T
Gene:: FASTK (Varview), TMUB1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
A=0.000035/1 (TOMMO)
T=0.000043/6 (GnomAD)
HGVS:: NC_000007.14:g.151082568C>A, NC_000007.14:g.151082568C>T, NC_000007.13:g.150779655C>A, NC_000007.13:g.150779655C>T, NG_053086.1:g.1738C>A, NG_053086.1:g.1738C>T, NM_031434.4:c.-5G>T, NM_031434.4:c.-5G>A, NM_031434.3:c.-5G>T, NM_031434.3:c.-5G>A, NM_001136044.2:c.-5G>T, NM_001136044.2:c.-5G>A, NM_001136044.1:c.-5G>T, NM_001136044.1:c.-5G>A

Select item 148220454617.

rs1482204546 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:151081278 (GRCh38)
7:150778365 (GRCh37)
Canonical SPDI:: NC_000007.14:151081277:C:T
Gene:: FASTK (Varview), TMUB1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.151081278C>T, NC_000007.13:g.150778365C>T, NG_053086.1:g.448C>T, NM_031434.4:c.*271G>A, NM_031434.3:c.*271G>A, NM_001136044.2:c.*271G>A, NM_001136044.1:c.*271G>A

Select item 148209033818.

rs1482090338 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:151077716 (GRCh38)
7:150774803 (GRCh37)
Canonical SPDI:: NC_000007.14:151077715:C:A
Gene:: FASTK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.151077716C>A, NC_000007.13:g.150774803C>A, NG_051947.1:g.24517C>A, NM_006712.5:c.1104G>T, NM_006712.4:c.1104G>T, XM_011515761.4:c.1104G>T, XM_011515761.3:c.1104G>T, XM_011515761.2:c.1104G>T, XM_011515761.1:c.1104G>T, XM_011515762.4:c.1104G>T, XM_011515762.3:c.1104G>T, XM_011515762.2:c.1104G>T, XM_011515762.1:c.1104G>T, NM_033015.4:c.681G>T, NM_033015.3:c.681G>T, XM_017011705.3:c.681G>T, XM_017011705.2:c.681G>T, XM_017011705.1:c.681G>T, XM_005249932.2:c.1002G>T, XM_005249932.1:c.1002G>T, NM_001258461.2:c.1023G>T, NM_001258461.1:c.1023G>T, XM_011515763.2:c.600G>T, XM_011515763.1:c.600G>T, NM_025096.1:c.*300G>T, XM_047419830.1:c.921G>T, XM_047419828.1:c.1023G>T, XM_047419831.1:c.681G>T, NP_006703.1:p.Glu368Asp, XP_011514063.1:p.Glu368Asp, XP_011514064.1:p.Glu368Asp, NP_148936.2:p.Glu227Asp, XP_016867194.1:p.Glu227Asp, XP_005249989.1:p.Glu334Asp, NP_001245390.1:p.Glu341Asp, XP_011514065.1:p.Glu200Asp, XP_047275786.1:p.Glu307Asp, XP_047275784.1:p.Glu341Asp, XP_047275787.1:p.Glu227Asp

Select item 148191672619.

rs1481916726 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:151077213 (GRCh38)
7:150774300 (GRCh37)
Canonical SPDI:: NC_000007.14:151077212:A:C
Gene:: FASTK (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000007.14:g.151077213A>C, NC_000007.13:g.150774300A>C, NG_051947.1:g.24014A>C, NM_006712.5:c.1315T>G, NM_006712.4:c.1315T>G, XM_011515761.4:c.1315T>G, XM_011515761.3:c.1315T>G, XM_011515761.2:c.1315T>G, XM_011515761.1:c.1315T>G, NM_033015.4:c.892T>G, NM_033015.3:c.892T>G, XM_017011705.3:c.892T>G, XM_017011705.2:c.892T>G, XM_017011705.1:c.892T>G, XM_005249932.2:c.1213T>G, XM_005249932.1:c.1213T>G, NM_001258461.2:c.1234T>G, NM_001258461.1:c.1234T>G, XM_011515763.2:c.811T>G, XM_011515763.1:c.811T>G, NM_025096.1:c.*803T>G, XM_047419828.1:c.1234T>G, NP_006703.1:p.Ser439Ala, XP_011514063.1:p.Ser439Ala, NP_148936.2:p.Ser298Ala, XP_016867194.1:p.Ser298Ala, XP_005249989.1:p.Ser405Ala, NP_001245390.1:p.Ser412Ala, XP_011514065.1:p.Ser271Ala, XP_047275784.1:p.Ser412Ala

Select item 148146467420.

rs1481464674 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:151081606 (GRCh38)
7:150778693 (GRCh37)
Canonical SPDI:: NC_000007.14:151081605:G:A
Gene:: FASTK (Varview), TMUB1 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000013/3 (GnomAD_exomes)
HGVS:: NC_000007.14:g.151081606G>A, NC_000007.13:g.150778693G>A, NG_053086.1:g.776G>A, NM_031434.4:c.684C>T, NM_031434.3:c.684C>T, NM_001136044.2:c.684C>T, NM_001136044.1:c.684C>T

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