SNP Links for Gene (Select 2196) - SNP

Links from Gene

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14915812281.

rs1491581228 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,GAT [Show Flanks]
Chromosome:: 5:151537316 (GRCh38)
5:150916878 (GRCh37)
Canonical SPDI:: NC_000005.10:151537316::G,NC_000005.10:151537316::GAT
Gene:: FAT2 (Varview), SLC36A1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAT=0./0 (ALFA)
G=0.00563/77 (TOMMO)
G=0.01408/22 (Korea1K)
G=0.03833/22 (NorthernSweden)
G=0.10655/6537 (GnomAD)
HGVS:: NC_000005.10:g.151537316_151537317insG, NC_000005.10:g.151537316_151537317insGAT, NC_000005.9:g.150916877_150916878insG, NC_000005.9:g.150916877_150916878insGAT, NG_046979.1:g.119824_119825insC, NG_046979.1:g.119824_119825insATC

Select item 14915062292.

rs1491506229 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 5:151533393 (GRCh38)
5:150912954 (GRCh37)
Canonical SPDI:: NC_000005.10:151533392:AA:
Gene:: FAT2 (Varview), SLC36A1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00006/1 (ALFA)
HGVS:: NC_000005.10:g.151533393_151533394del, NC_000005.9:g.150912954_150912955del, NG_046979.1:g.123747_123748del

Select item 14914915913.

rs1491491591 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA [Show Flanks]
Chromosome:: 5:151534968 (GRCh38)
5:150914530 (GRCh37)
Canonical SPDI:: NC_000005.10:151534968:A:ATA,NC_000005.10:151534968:A:ATATA,NC_000005.10:151534968:A:ATATATA,NC_000005.10:151534968:A:ATATATATA,NC_000005.10:151534968:A:ATATATATATA,NC_000005.10:151534968:A:ATATATATATATA,NC_000005.10:151534968:A:ATATATATATATATA,NC_000005.10:151534968:A:ATATATATATATATATA,NC_000005.10:151534968:A:ATATATATATATATATATA,NC_000005.10:151534968:A:ATATATATATATATATATATA,NC_000005.10:151534968:A:ATATATATATATATATATATATATATATATATA,NC_000005.10:151534968:A:ATATATATATATATATATATATATATATATATATA,NC_000005.10:151534968:A:ATATATATATATATATATATATATATATATATATATA
Gene:: FAT2 (Varview), SLC36A1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATA=0./0 (ALFA)
HGVS:: NC_000005.10:g.151534969_151534970insTA, NC_000005.10:g.151534969_151534970insTATA, NC_000005.10:g.151534970TA[3], NC_000005.10:g.151534970TA[4], NC_000005.10:g.151534970TA[5], NC_000005.10:g.151534970TA[6], NC_000005.10:g.151534970TA[7], NC_000005.10:g.151534970TA[8], NC_000005.10:g.151534970TA[9], NC_000005.10:g.151534970TA[10], NC_000005.10:g.151534970TA[16], NC_000005.10:g.151534970TA[17], NC_000005.10:g.151534970TA[18], NC_000005.9:g.150914530_150914531insTA, NC_000005.9:g.150914530_150914531insTATA, NC_000005.9:g.150914531TA[3], NC_000005.9:g.150914531TA[4], NC_000005.9:g.150914531TA[5], NC_000005.9:g.150914531TA[6], NC_000005.9:g.150914531TA[7], NC_000005.9:g.150914531TA[8], NC_000005.9:g.150914531TA[9], NC_000005.9:g.150914531TA[10], NC_000005.9:g.150914531TA[16], NC_000005.9:g.150914531TA[17], NC_000005.9:g.150914531TA[18], NG_046979.1:g.122172_122173insAT, NG_046979.1:g.122172_122173insATAT, NG_046979.1:g.122173AT[3], NG_046979.1:g.122173AT[4], NG_046979.1:g.122173AT[5], NG_046979.1:g.122173AT[6], NG_046979.1:g.122173AT[7], NG_046979.1:g.122173AT[8], NG_046979.1:g.122173AT[9], NG_046979.1:g.122173AT[10], NG_046979.1:g.122173AT[16], NG_046979.1:g.122173AT[17], NG_046979.1:g.122173AT[18]

Select item 14914327114.

rs1491432711 has merged into rs36215342 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACACACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 5:151533412 (GRCh38)
5:150912973 (GRCh37)
Canonical SPDI:: NC_000005.10:151533393:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000005.10:151533393:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000005.10:151533393:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000005.10:151533393:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000005.10:151533393:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000005.10:151533393:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000005.10:151533393:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000005.10:151533393:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000005.10:151533393:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000005.10:151533393:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000005.10:151533393:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000005.10:151533393:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:151533393:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:151533393:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:151533393:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:151533393:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:151533393:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:151533393:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:151533393:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:151533393:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:151533393:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
Gene:: FAT2 (Varview), SLC36A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACAC=0./0 (ALFA)
-=0.2942/1134 (ALSPAC)
-=0.3204/1188 (TWINSUK)
HGVS:: NC_000005.10:g.151533394AC[9], NC_000005.10:g.151533394AC[10], NC_000005.10:g.151533394AC[11], NC_000005.10:g.151533394AC[12], NC_000005.10:g.151533394AC[13], NC_000005.10:g.151533394AC[14], NC_000005.10:g.151533394AC[15], NC_000005.10:g.151533394AC[16], NC_000005.10:g.151533394AC[17], NC_000005.10:g.151533394AC[18], NC_000005.10:g.151533394AC[19], NC_000005.10:g.151533394AC[20], NC_000005.10:g.151533394AC[21], NC_000005.10:g.151533394AC[23], NC_000005.10:g.151533394AC[24], NC_000005.10:g.151533394AC[25], NC_000005.10:g.151533394AC[26], NC_000005.10:g.151533394AC[27], NC_000005.10:g.151533394AC[28], NC_000005.10:g.151533394AC[29], NC_000005.10:g.151533394AC[30], NC_000005.9:g.150912955AC[9], NC_000005.9:g.150912955AC[10], NC_000005.9:g.150912955AC[11], NC_000005.9:g.150912955AC[12], NC_000005.9:g.150912955AC[13], NC_000005.9:g.150912955AC[14], NC_000005.9:g.150912955AC[15], NC_000005.9:g.150912955AC[16], NC_000005.9:g.150912955AC[17], NC_000005.9:g.150912955AC[18], NC_000005.9:g.150912955AC[19], NC_000005.9:g.150912955AC[20], NC_000005.9:g.150912955AC[21], NC_000005.9:g.150912955AC[23], NC_000005.9:g.150912955AC[24], NC_000005.9:g.150912955AC[25], NC_000005.9:g.150912955AC[26], NC_000005.9:g.150912955AC[27], NC_000005.9:g.150912955AC[28], NC_000005.9:g.150912955AC[29], NC_000005.9:g.150912955AC[30], NG_046979.1:g.123704GT[9], NG_046979.1:g.123704GT[10], NG_046979.1:g.123704GT[11], NG_046979.1:g.123704GT[12], NG_046979.1:g.123704GT[13], NG_046979.1:g.123704GT[14], NG_046979.1:g.123704GT[15], NG_046979.1:g.123704GT[16], NG_046979.1:g.123704GT[17], NG_046979.1:g.123704GT[18], NG_046979.1:g.123704GT[19], NG_046979.1:g.123704GT[20], NG_046979.1:g.123704GT[21], NG_046979.1:g.123704GT[23], NG_046979.1:g.123704GT[24], NG_046979.1:g.123704GT[25], NG_046979.1:g.123704GT[26], NG_046979.1:g.123704GT[27], NG_046979.1:g.123704GT[28], NG_046979.1:g.123704GT[29], NG_046979.1:g.123704GT[30]

Select item 14913979755.

rs1491397975 has merged into rs35453556 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:151584008 (GRCh38)
5:150963569 (GRCh37)
Canonical SPDI:: NC_000005.10:151583997:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:151583997:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:151583997:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:151583997:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:151583997:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:151583997:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:151583997:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:151583997:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:151583997:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:151583997:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:151583997:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:151583997:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151583997:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151583997:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151583997:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151583997:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151583997:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151583997:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151583997:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151583997:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151583997:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151583997:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151583997:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151583997:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: FAT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000005.10:g.151584008_151584023del, NC_000005.10:g.151584009_151584023del, NC_000005.10:g.151584010_151584023del, NC_000005.10:g.151584011_151584023del, NC_000005.10:g.151584012_151584023del, NC_000005.10:g.151584013_151584023del, NC_000005.10:g.151584014_151584023del, NC_000005.10:g.151584015_151584023del, NC_000005.10:g.151584016_151584023del, NC_000005.10:g.151584017_151584023del, NC_000005.10:g.151584018_151584023del, NC_000005.10:g.151584019_151584023del, NC_000005.10:g.151584020_151584023del, NC_000005.10:g.151584021_151584023del, NC_000005.10:g.151584022_151584023del, NC_000005.10:g.151584023del, NC_000005.10:g.151584023dup, NC_000005.10:g.151584022_151584023dup, NC_000005.10:g.151584021_151584023dup, NC_000005.10:g.151584020_151584023dup, NC_000005.10:g.151584019_151584023dup, NC_000005.10:g.151584017_151584023dup, NC_000005.10:g.151584015_151584023dup, NC_000005.10:g.151584013_151584023dup, NC_000005.9:g.150963569_150963584del, NC_000005.9:g.150963570_150963584del, NC_000005.9:g.150963571_150963584del, NC_000005.9:g.150963572_150963584del, NC_000005.9:g.150963573_150963584del, NC_000005.9:g.150963574_150963584del, NC_000005.9:g.150963575_150963584del, NC_000005.9:g.150963576_150963584del, NC_000005.9:g.150963577_150963584del, NC_000005.9:g.150963578_150963584del, NC_000005.9:g.150963579_150963584del, NC_000005.9:g.150963580_150963584del, NC_000005.9:g.150963581_150963584del, NC_000005.9:g.150963582_150963584del, NC_000005.9:g.150963583_150963584del, NC_000005.9:g.150963584del, NC_000005.9:g.150963584dup, NC_000005.9:g.150963583_150963584dup, NC_000005.9:g.150963582_150963584dup, NC_000005.9:g.150963581_150963584dup, NC_000005.9:g.150963580_150963584dup, NC_000005.9:g.150963578_150963584dup, NC_000005.9:g.150963576_150963584dup, NC_000005.9:g.150963574_150963584dup, NG_046979.1:g.73128_73143del, NG_046979.1:g.73129_73143del, NG_046979.1:g.73130_73143del, NG_046979.1:g.73131_73143del, NG_046979.1:g.73132_73143del, NG_046979.1:g.73133_73143del, NG_046979.1:g.73134_73143del, NG_046979.1:g.73135_73143del, NG_046979.1:g.73136_73143del, NG_046979.1:g.73137_73143del, NG_046979.1:g.73138_73143del, NG_046979.1:g.73139_73143del, NG_046979.1:g.73140_73143del, NG_046979.1:g.73141_73143del, NG_046979.1:g.73142_73143del, NG_046979.1:g.73143del, NG_046979.1:g.73143dup, NG_046979.1:g.73142_73143dup, NG_046979.1:g.73141_73143dup, NG_046979.1:g.73140_73143dup, NG_046979.1:g.73139_73143dup, NG_046979.1:g.73137_73143dup, NG_046979.1:g.73135_73143dup, NG_046979.1:g.73133_73143dup

Select item 14913712586.

rs1491371258 has merged into rs1364543679 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAAA [Show Flanks]
Chromosome:: 5:151534970 (GRCh38)
5:150914531 (GRCh37)
Canonical SPDI:: NC_000005.10:151534967:AAAA:AA,NC_000005.10:151534967:AAAA:AAAAAA
Gene:: FAT2 (Varview), SLC36A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0.00394/64 (ALFA)
-=0.00375/24 (1000Genomes)
-=0.00628/311 (GnomAD)
HGVS:: NC_000005.10:g.151534970_151534971del, NC_000005.10:g.151534970_151534971dup, NC_000005.9:g.150914531_150914532del, NC_000005.9:g.150914531_150914532dup, NG_046979.1:g.122172_122173del, NG_046979.1:g.122172_122173dup

Select item 14912479107.

rs1491247910 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:151583997 (GRCh38)
5:150963558 (GRCh37)
Canonical SPDI:: NC_000005.10:151583996:CA:
Gene:: FAT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000005.10:g.151583997_151583998del, NC_000005.9:g.150963558_150963559del, NG_046979.1:g.73143_73144del

Select item 14910790318.

rs1491079031 has merged into rs145392136 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 5:151559659 (GRCh38)
5:150939220 (GRCh37)
Canonical SPDI:: NC_000005.10:151559647:TGTGTGTGTGTGT:TGTGTGTGTGT,NC_000005.10:151559647:TGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000005.10:151559647:TGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000005.10:151559647:TGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000005.10:151559647:TGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:151559647:TGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: FAT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.151559649GT[5], NC_000005.10:g.151559649GT[7], NC_000005.10:g.151559649GT[9], NC_000005.10:g.151559649GT[10], NC_000005.10:g.151559649GT[11], NC_000005.10:g.151559649GT[12], NC_000005.9:g.150939210GT[5], NC_000005.9:g.150939210GT[7], NC_000005.9:g.150939210GT[9], NC_000005.9:g.150939210GT[10], NC_000005.9:g.150939210GT[11], NC_000005.9:g.150939210GT[12], NG_046979.1:g.97482CA[5], NG_046979.1:g.97482CA[7], NG_046979.1:g.97482CA[9], NG_046979.1:g.97482CA[10], NG_046979.1:g.97482CA[11], NG_046979.1:g.97482CA[12]

Select item 14909446789.

rs1490944678 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:151521461 (GRCh38)
5:150901022 (GRCh37)
Canonical SPDI:: NC_000005.10:151521460:T:C
Gene:: FAT2 (Varview), SLC36A1 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.151521461T>C, NC_000005.9:g.150901022T>C, NG_046979.1:g.135680A>G, NM_001447.3:c.11132A>G, NM_001447.2:c.11132A>G, XM_011537600.3:c.11132A>G, XM_011537600.2:c.11132A>G, XM_011537600.1:c.11132A>G, XM_017009224.2:c.11132A>G, XM_017009224.1:c.11132A>G, XM_011537603.2:c.11132A>G, XM_011537603.1:c.11132A>G, XM_017009225.2:c.11132A>G, XM_017009225.1:c.11132A>G, XM_047416934.1:c.11132A>G, NP_001438.1:p.Glu3711Gly, XP_011535902.1:p.Glu3711Gly, XP_016864713.1:p.Glu3711Gly, XP_011535905.1:p.Glu3711Gly, XP_016864714.1:p.Glu3711Gly, XP_047272890.1:p.Glu3711Gly

Select item 149093375710.

rs1490933757 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:151593737 (GRCh38)
5:150973298 (GRCh37)
Canonical SPDI:: NC_000005.10:151593736:C:T
Gene:: FAT2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.151593737C>T, NC_000005.9:g.150973298C>T, NG_046979.1:g.63404G>A

Select item 149089608011.

rs1490896080 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:151578318 (GRCh38)
5:150957879 (GRCh37)
Canonical SPDI:: NC_000005.10:151578317:A:G
Gene:: FAT2 (Varview)
Functional Consequence:: intron_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_000005.10:g.151578318A>G, NC_000005.9:g.150957879A>G, NG_046979.1:g.78823T>C

Select item 149082838812.

rs1490828388 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:151532373 (GRCh38)
5:150911934 (GRCh37)
Canonical SPDI:: NC_000005.10:151532372:A:G
Gene:: FAT2 (Varview), SLC36A1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.151532373A>G, NC_000005.9:g.150911934A>G, NG_046979.1:g.124768T>C

Select item 149081512613.

rs1490815126 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAG [Show Flanks]
Chromosome:: 5:151546520 (GRCh38)
5:150926082 (GRCh37)
Canonical SPDI:: NC_000005.10:151546520:TAGTAG:TAGTAGTAG
Gene:: FAT2 (Varview), SLC36A1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAGTAGTAG=0./0 (ALFA)
TAG=0.000004/1 (TOPMED)
TAG=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.151546521TAG[3], NC_000005.9:g.150926082TAG[3], NG_046979.1:g.110615CTA[3]

Select item 149080408414.

rs1490804084 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:151546937 (GRCh38)
5:150926498 (GRCh37)
Canonical SPDI:: NC_000005.10:151546936:C:T
Gene:: FAT2 (Varview), SLC36A1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000005.10:g.151546937C>T, NC_000005.9:g.150926498C>T, NG_046979.1:g.110204G>A

Select item 149079654915.

rs1490796549 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:151584149 (GRCh38)
5:150963710 (GRCh37)
Canonical SPDI:: NC_000005.10:151584148:C:A
Gene:: FAT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.151584149C>A, NC_000005.9:g.150963710C>A, NG_046979.1:g.72992G>T

Select item 149076338216.

rs1490763382 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:151545421 (GRCh38)
5:150924982 (GRCh37)
Canonical SPDI:: NC_000005.10:151545420:T:A
Gene:: FAT2 (Varview), SLC36A1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.151545421T>A, NC_000005.9:g.150924982T>A, NG_046979.1:g.111720A>T, NM_001447.3:c.5706A>T, NM_001447.2:c.5706A>T, XM_011537600.3:c.5706A>T, XM_011537600.2:c.5706A>T, XM_011537600.1:c.5706A>T, XM_017009224.2:c.5706A>T, XM_017009224.1:c.5706A>T, XM_011537603.2:c.5706A>T, XM_011537603.1:c.5706A>T, XM_017009225.2:c.5706A>T, XM_017009225.1:c.5706A>T, XM_017009227.2:c.5706A>T, XM_017009227.1:c.5706A>T, XM_047416934.1:c.5706A>T, XR_007058588.1:n.5893A>T, NP_001438.1:p.Glu1902Asp, XP_011535902.1:p.Glu1902Asp, XP_016864713.1:p.Glu1902Asp, XP_011535905.1:p.Glu1902Asp, XP_016864714.1:p.Glu1902Asp, XP_016864716.1:p.Glu1902Asp, XP_047272890.1:p.Glu1902Asp

Select item 149074091917.

rs1490740919 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:151531532 (GRCh38)
5:150911093 (GRCh37)
Canonical SPDI:: NC_000005.10:151531531:C:A,NC_000005.10:151531531:C:T
Gene:: FAT2 (Varview), SLC36A1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.151531532C>A, NC_000005.10:g.151531532C>T, NC_000005.9:g.150911093C>A, NC_000005.9:g.150911093C>T, NG_046979.1:g.125609G>T, NG_046979.1:g.125609G>A

Select item 149057833618.

rs1490578336 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 5:151531884 (GRCh38)
5:150911445 (GRCh37)
Canonical SPDI:: NC_000005.10:151531883:C:A,NC_000005.10:151531883:C:G,NC_000005.10:151531883:C:T
Gene:: FAT2 (Varview), SLC36A1 (Varview)
Functional Consequence:: intron_variant,stop_gained,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.151531884C>A, NC_000005.10:g.151531884C>G, NC_000005.10:g.151531884C>T, NC_000005.9:g.150911445C>A, NC_000005.9:g.150911445C>G, NC_000005.9:g.150911445C>T, NG_046979.1:g.125257G>T, NG_046979.1:g.125257G>C, NG_046979.1:g.125257G>A, NM_001447.3:c.9514G>T, NM_001447.3:c.9514G>C, NM_001447.3:c.9514G>A, NM_001447.2:c.9514G>T, NM_001447.2:c.9514G>C, NM_001447.2:c.9514G>A, XM_011537600.3:c.9514G>T, XM_011537600.3:c.9514G>C, XM_011537600.3:c.9514G>A, XM_011537600.2:c.9514G>T, XM_011537600.2:c.9514G>C, XM_011537600.2:c.9514G>A, XM_011537600.1:c.9514G>T, XM_011537600.1:c.9514G>C, XM_011537600.1:c.9514G>A, XM_017009224.2:c.9514G>T, XM_017009224.2:c.9514G>C, XM_017009224.2:c.9514G>A, XM_017009224.1:c.9514G>T, XM_017009224.1:c.9514G>C, XM_017009224.1:c.9514G>A, XM_011537603.2:c.9514G>T, XM_011537603.2:c.9514G>C, XM_011537603.2:c.9514G>A, XM_011537603.1:c.9514G>T, XM_011537603.1:c.9514G>C, XM_011537603.1:c.9514G>A, XM_017009225.2:c.9514G>T, XM_017009225.2:c.9514G>C, XM_017009225.2:c.9514G>A, XM_017009225.1:c.9514G>T, XM_017009225.1:c.9514G>C, XM_017009225.1:c.9514G>A, XM_047416934.1:c.9514G>T, XM_047416934.1:c.9514G>C, XM_047416934.1:c.9514G>A, NP_001438.1:p.Glu3172Ter, NP_001438.1:p.Glu3172Gln, NP_001438.1:p.Glu3172Lys, XP_011535902.1:p.Glu3172Ter, XP_011535902.1:p.Glu3172Gln, XP_011535902.1:p.Glu3172Lys, XP_016864713.1:p.Glu3172Ter, XP_016864713.1:p.Glu3172Gln, XP_016864713.1:p.Glu3172Lys, XP_011535905.1:p.Glu3172Ter, XP_011535905.1:p.Glu3172Gln, XP_011535905.1:p.Glu3172Lys, XP_016864714.1:p.Glu3172Ter, XP_016864714.1:p.Glu3172Gln, XP_016864714.1:p.Glu3172Lys, XP_047272890.1:p.Glu3172Ter, XP_047272890.1:p.Glu3172Gln, XP_047272890.1:p.Glu3172Lys

Select item 149056378819.

rs1490563788 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:151516105 (GRCh38)
5:150895666 (GRCh37)
Canonical SPDI:: NC_000005.10:151516104:G:C
Gene:: FAT2 (Varview), SLC36A1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.151516105G>C, NC_000005.9:g.150895666G>C, NG_046979.1:g.141036C>G

Select item 149053442420.

rs1490534424 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:151586700 (GRCh38)
5:150966261 (GRCh37)
Canonical SPDI:: NC_000005.10:151586699:T:A
Gene:: FAT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.151586700T>A, NC_000005.9:g.150966261T>A, NG_046979.1:g.70441A>T

<< First< Prev

Page of 50

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 1000

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity