SNP Links for Gene (Select 28992) - SNP

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Select item 14915757021.

rs1491575702 has merged into rs71468654 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAAACAAACAAACAAA>-,CAAA,CAAACAAA,CAAACAAACAAA,CAAACAAACAAACAAACAAA,CAAACAAACAAACAAACAAACAAA,CAAACAAACAAACAAACAAACAAACAAA [Show Flanks]
Chromosome:: 11:64163138 (GRCh38)
11:63930610 (GRCh37)
Canonical SPDI:: NC_000011.10:64163122:AAACAAACAAACAAACAAACAAACAAACAAA:AAACAAACAAACAAA,NC_000011.10:64163122:AAACAAACAAACAAACAAACAAACAAACAAA:AAACAAACAAACAAACAAA,NC_000011.10:64163122:AAACAAACAAACAAACAAACAAACAAACAAA:AAACAAACAAACAAACAAACAAA,NC_000011.10:64163122:AAACAAACAAACAAACAAACAAACAAACAAA:AAACAAACAAACAAACAAACAAACAAA,NC_000011.10:64163122:AAACAAACAAACAAACAAACAAACAAACAAA:AAACAAACAAACAAACAAACAAACAAACAAACAAA,NC_000011.10:64163122:AAACAAACAAACAAACAAACAAACAAACAAA:AAACAAACAAACAAACAAACAAACAAACAAACAAACAAA,NC_000011.10:64163122:AAACAAACAAACAAACAAACAAACAAACAAA:AAACAAACAAACAAACAAACAAACAAACAAACAAACAAACAAA
Gene:: MACROD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAACAAACAAACAAACAAA=0./0 (ALFA)
-=0.2995/1500 (1000Genomes)
HGVS:: NC_000011.10:g.64163126CAAA[3], NC_000011.10:g.64163126CAAA[4], NC_000011.10:g.64163126CAAA[5], NC_000011.10:g.64163126CAAA[6], NC_000011.10:g.64163126CAAA[8], NC_000011.10:g.64163126CAAA[9], NC_000011.10:g.64163126CAAA[10], NC_000011.9:g.63930598CAAA[3], NC_000011.9:g.63930598CAAA[4], NC_000011.9:g.63930598CAAA[5], NC_000011.9:g.63930598CAAA[6], NC_000011.9:g.63930598CAAA[8], NC_000011.9:g.63930598CAAA[9], NC_000011.9:g.63930598CAAA[10]

Select item 14915695762.

rs1491569576 has merged into rs59963244 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:64066306 (GRCh38)
11:63833778 (GRCh37)
Canonical SPDI:: NC_000011.10:64066294:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:64066294:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:64066294:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:64066294:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:64066294:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:64066294:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:64066294:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:64066294:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:64066294:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:64066294:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:64066294:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:64066294:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:64066294:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:64066294:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:64066294:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:64066294:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:64066294:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:64066294:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:64066294:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:64066294:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: FLRT1 (Varview), MACROD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000011.10:g.64066306_64066319del, NC_000011.10:g.64066308_64066319del, NC_000011.10:g.64066309_64066319del, NC_000011.10:g.64066310_64066319del, NC_000011.10:g.64066311_64066319del, NC_000011.10:g.64066312_64066319del, NC_000011.10:g.64066313_64066319del, NC_000011.10:g.64066314_64066319del, NC_000011.10:g.64066315_64066319del, NC_000011.10:g.64066316_64066319del, NC_000011.10:g.64066317_64066319del, NC_000011.10:g.64066318_64066319del, NC_000011.10:g.64066319del, NC_000011.10:g.64066319dup, NC_000011.10:g.64066318_64066319dup, NC_000011.10:g.64066317_64066319dup, NC_000011.10:g.64066316_64066319dup, NC_000011.10:g.64066315_64066319dup, NC_000011.10:g.64066314_64066319dup, NC_000011.10:g.64066313_64066319dup, NC_000011.9:g.63833778_63833791del, NC_000011.9:g.63833780_63833791del, NC_000011.9:g.63833781_63833791del, NC_000011.9:g.63833782_63833791del, NC_000011.9:g.63833783_63833791del, NC_000011.9:g.63833784_63833791del, NC_000011.9:g.63833785_63833791del, NC_000011.9:g.63833786_63833791del, NC_000011.9:g.63833787_63833791del, NC_000011.9:g.63833788_63833791del, NC_000011.9:g.63833789_63833791del, NC_000011.9:g.63833790_63833791del, NC_000011.9:g.63833791del, NC_000011.9:g.63833791dup, NC_000011.9:g.63833790_63833791dup, NC_000011.9:g.63833789_63833791dup, NC_000011.9:g.63833788_63833791dup, NC_000011.9:g.63833787_63833791dup, NC_000011.9:g.63833786_63833791dup, NC_000011.9:g.63833785_63833791dup

Select item 14915669993.

rs1491566999 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 11:64012405 (GRCh38)
11:63779877 (GRCh37)
Canonical SPDI:: NC_000011.10:64012404:CT:
Gene:: MACROD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.02588/307 (ALFA)
-=0.00941/157 (TOMMO)
-=0.0381/191 (1000Genomes)
-=0.0466/4523 (GnomAD)
HGVS:: NC_000011.10:g.64012405_64012406del, NC_000011.9:g.63779877_63779878del

Select item 14915653044.

rs1491565304 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:64066294 (GRCh38)
11:63833766 (GRCh37)
Canonical SPDI:: NC_000011.10:64066293:CA:
Gene:: FLRT1 (Varview), MACROD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000011.10:g.64066294_64066295del, NC_000011.9:g.63833766_63833767del

Select item 14914982105.

rs1491498210 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:64065789 (GRCh38)
11:63833261 (GRCh37)
Canonical SPDI:: NC_000011.10:64065788:CA:
Gene:: FLRT1 (Varview), MACROD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00076/9 (ALFA)
HGVS:: NC_000011.10:g.64065789_64065790del, NC_000011.9:g.63833261_63833262del

Select item 14914881856.

rs1491488185 has merged into rs1186987263 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 11:64166803 (GRCh38)
11:63934275 (GRCh37)
Canonical SPDI:: NC_000011.10:64166791:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:64166791:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:64166791:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:64166791:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:64166791:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:64166791:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:64166791:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: MACROD1 (Varview), LOC105369339 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000011.10:g.64166803_64166806del, NC_000011.10:g.64166804_64166806del, NC_000011.10:g.64166805_64166806del, NC_000011.10:g.64166806del, NC_000011.10:g.64166806dup, NC_000011.10:g.64166805_64166806dup, NC_000011.10:g.64166804_64166806dup, NC_000011.9:g.63934275_63934278del, NC_000011.9:g.63934276_63934278del, NC_000011.9:g.63934277_63934278del, NC_000011.9:g.63934278del, NC_000011.9:g.63934278dup, NC_000011.9:g.63934277_63934278dup, NC_000011.9:g.63934276_63934278dup

Select item 14914660727.

rs1491466072 has merged into rs71045731 [Homo sapiens]

Variant type:: DELINS
Alleles:: CATTCATTCATTCATT>-,CATT,CATTCATT,CATTCATTCATT,CATTCATTCATTCATTCATT,CATTCATTCATTCATTCATTCATT,CATTCATTCATTCATTCATTCATTCATT,CATTCATTCATTCATTCATTCATTCATTCATT,CATTCATTCATTCATTCATTCATTCATTCATTCATT [Show Flanks]
Chromosome:: 11:64064861 (GRCh38)
11:63832333 (GRCh37)
Canonical SPDI:: NC_000011.10:64064843:TCATTCATTCATTCATTCATTCATTCATTCATT:TCATTCATTCATTCATT,NC_000011.10:64064843:TCATTCATTCATTCATTCATTCATTCATTCATT:TCATTCATTCATTCATTCATT,NC_000011.10:64064843:TCATTCATTCATTCATTCATTCATTCATTCATT:TCATTCATTCATTCATTCATTCATT,NC_000011.10:64064843:TCATTCATTCATTCATTCATTCATTCATTCATT:TCATTCATTCATTCATTCATTCATTCATT,NC_000011.10:64064843:TCATTCATTCATTCATTCATTCATTCATTCATT:TCATTCATTCATTCATTCATTCATTCATTCATTCATT,NC_000011.10:64064843:TCATTCATTCATTCATTCATTCATTCATTCATT:TCATTCATTCATTCATTCATTCATTCATTCATTCATTCATT,NC_000011.10:64064843:TCATTCATTCATTCATTCATTCATTCATTCATT:TCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCATT,NC_000011.10:64064843:TCATTCATTCATTCATTCATTCATTCATTCATT:TCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCATT,NC_000011.10:64064843:TCATTCATTCATTCATTCATTCATTCATTCATT:TCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCATT
Gene:: FLRT1 (Varview), MACROD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCATTCATTCATTCATTCATT=0./0 (ALFA)
HGVS:: NC_000011.10:g.64064845CATT[4], NC_000011.10:g.64064845CATT[5], NC_000011.10:g.64064845CATT[6], NC_000011.10:g.64064845CATT[7], NC_000011.10:g.64064845CATT[9], NC_000011.10:g.64064845CATT[10], NC_000011.10:g.64064845CATT[11], NC_000011.10:g.64064845CATT[12], NC_000011.10:g.64064845CATT[13], NC_000011.9:g.63832317CATT[4], NC_000011.9:g.63832317CATT[5], NC_000011.9:g.63832317CATT[6], NC_000011.9:g.63832317CATT[7], NC_000011.9:g.63832317CATT[9], NC_000011.9:g.63832317CATT[10], NC_000011.9:g.63832317CATT[11], NC_000011.9:g.63832317CATT[12], NC_000011.9:g.63832317CATT[13]

Select item 14914374548.

rs1491437454 has merged into rs140487195 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGGATGGA>-,TGGA,TGGATGGATGGA,TGGATGGATGGATGGA [Show Flanks]
Chromosome:: 11:64114025 (GRCh38)
11:63881497 (GRCh37)
Canonical SPDI:: NC_000011.10:64114011:ATGGATGGATGGATGGATGGA:ATGGATGGATGGA,NC_000011.10:64114011:ATGGATGGATGGATGGATGGA:ATGGATGGATGGATGGA,NC_000011.10:64114011:ATGGATGGATGGATGGATGGA:ATGGATGGATGGATGGATGGATGGA,NC_000011.10:64114011:ATGGATGGATGGATGGATGGA:ATGGATGGATGGATGGATGGATGGATGGA
Gene:: FLRT1 (Varview), MACROD1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATGGATGGATGGATGGATGGATGGA=0./0 (ALFA)
-=0.14/84 (NorthernSweden)
-=0.15315/767 (1000Genomes)
-=0.16272/2669 (TOMMO)
-=0.16632/641 (ALSPAC)
-=0.17287/641 (TWINSUK)
-=0.19475/356 (Korea1K)
HGVS:: NC_000011.10:g.64114013TGGA[3], NC_000011.10:g.64114013TGGA[4], NC_000011.10:g.64114013TGGA[6], NC_000011.10:g.64114013TGGA[7], NC_000011.9:g.63881485TGGA[3], NC_000011.9:g.63881485TGGA[4], NC_000011.9:g.63881485TGGA[6], NC_000011.9:g.63881485TGGA[7], XM_047426698.1:c.-2161TGGA[3], XM_047426698.1:c.-2161TGGA[4], XM_047426698.1:c.-2161TGGA[6], XM_047426698.1:c.-2161TGGA[7]

Select item 14914281669.

rs1491428166 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 11:64147395 (GRCh38)
11:63914867 (GRCh37)
Canonical SPDI:: NC_000011.10:64147393:TCT:T
Gene:: MACROD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.64147395_64147396del, NC_000011.9:g.63914867_63914868del

Select item 149141890210.

rs1491418902 [Homo sapiens]

Variant type:: INS
Alleles:: ->CC,CCCACGCCACCTCCTCCCCGCCCGCTGCCTCCCCCTCC,CCCCAGCCACCTCCTCCCCGCCCGCTGCCTCCCCCTCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCTCC,CCCCCGCC,CCCCCGCCACC,CCCCCGCCACCTCCTCCCCGCCCGCTGCC,CCCCCGCCACCTCCTCCCCGCCCGCTGCCCCCCCCTCC,CCCCCGCCACCTCCTCCCCGCCCGCTGCCTACCCCTCC,CCCCCGCCACCTCCTCCCCGCCCGCTGCCTCC,CCCCCGCCACCTCCTCCCCGCCCGCTGCCTCCCCC,CCCCCGCCACCTCCTCCCCGCCCGCTGCCTCCCCCTCC,CCCCCGCCACCTCCTCCCCGCCCGCTGCCTCCCCCTCCTCC,CCCCCGCCACCTCCTCCCCGCCCGCTGCCTCCCCCTCCTCCTCC,CCCCCGCCACCTCCTCCCCGCCCGCTGCCTCCCCCTCT,CCCCCGCCACCTCCTCCCCGCCCGCTGCCTCCCCCTTC,CCCCCGCCACCTCCTCCCCGCCCGCTGCCTCCCCGTCC,CCCCCGCCACCTCCTCCCCGCCCGCTGCCTCCCCTTCC,CCCCCGCCACCTCCTCCCCGCCCGCTGCCTTCCCCTCC,CCCCCGCCACCTCCTCCCCGTCCGCTGCCTCCCCCTCC,CCCCCGCCACCTCCTCCCGGCCCGCTGCCTCCCCCTCC,CCCCCGCCACCTCTTCCCCGCCCGCTGCCTCCCCCTCC,CCCCCGCCCCCTCCTCCCCGCCCGCTGCCTCCCCCTCC,CCCCTGCCACCTCCTCCCCGCCCGCTGCCTCCCCCTCC [Show Flanks]
Chromosome:: 11:64035713 (GRCh38)
11:63803186 (GRCh37)
Canonical SPDI:: NC_000011.10:64035713::CC,NC_000011.10:64035713::CCCACGCCACCTCCTCCCCGCCCGCTGCCTCCCCCTCC,NC_000011.10:64035713::CCCCAGCCACCTCCTCCCCGCCCGCTGCCTCCCCCTCC,NC_000011.10:64035713::CCCCCCCCCCCCCCCCCCCCCCCCCCCCTCC,NC_000011.10:64035713::CCCCCGCC,NC_000011.10:64035713::CCCCCGCCACC,NC_000011.10:64035713::CCCCCGCCACCTCCTCCCCGCCCGCTGCC,NC_000011.10:64035713::CCCCCGCCACCTCCTCCCCGCCCGCTGCCCCCCCCTCC,NC_000011.10:64035713::CCCCCGCCACCTCCTCCCCGCCCGCTGCCTACCCCTCC,NC_000011.10:64035713::CCCCCGCCACCTCCTCCCCGCCCGCTGCCTCC,NC_000011.10:64035713::CCCCCGCCACCTCCTCCCCGCCCGCTGCCTCCCCC,NC_000011.10:64035713::CCCCCGCCACCTCCTCCCCGCCCGCTGCCTCCCCCTCC,NC_000011.10:64035713::CCCCCGCCACCTCCTCCCCGCCCGCTGCCTCCCCCTCCTCC,NC_000011.10:64035713::CCCCCGCCACCTCCTCCCCGCCCGCTGCCTCCCCCTCCTCCTCC,NC_000011.10:64035713::CCCCCGCCACCTCCTCCCCGCCCGCTGCCTCCCCCTCT,NC_000011.10:64035713::CCCCCGCCACCTCCTCCCCGCCCGCTGCCTCCCCCTTC,NC_000011.10:64035713::CCCCCGCCACCTCCTCCCCGCCCGCTGCCTCCCCGTCC,NC_000011.10:64035713::CCCCCGCCACCTCCTCCCCGCCCGCTGCCTCCCCTTCC,NC_000011.10:64035713::CCCCCGCCACCTCCTCCCCGCCCGCTGCCTTCCCCTCC,NC_000011.10:64035713::CCCCCGCCACCTCCTCCCCGTCCGCTGCCTCCCCCTCC,NC_000011.10:64035713::CCCCCGCCACCTCCTCCCGGCCCGCTGCCTCCCCCTCC,NC_000011.10:64035713::CCCCCGCCACCTCTTCCCCGCCCGCTGCCTCCCCCTCC,NC_000011.10:64035713::CCCCCGCCCCCTCCTCCCCGCCCGCTGCCTCCCCCTCC,NC_000011.10:64035713::CCCCTGCCACCTCCTCCCCGCCCGCTGCCTCCCCCTCC
Gene:: FLRT1 (Varview), MACROD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCGCC=0./0 (ALFA)
HGVS:: NC_000011.10:g.64035713_64035714insCC, NC_000011.10:g.64035713_64035714insCCCACGCCACCTCCTCCCCGCCCGCTGCCTCCCCCTCC, NC_000011.10:g.64035713_64035714insCCCCAGCCACCTCCTCCCCGCCCGCTGCCTCCCCCTCC, NC_000011.10:g.64035713_64035714insCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCC, NC_000011.10:g.64035713_64035714insCCCCCGCC, NC_000011.10:g.64035713_64035714insCCCCCGCCACC, NC_000011.10:g.64035713_64035714insCCCCCGCCACCTCCTCCCCGCCCGCTGCC, NC_000011.10:g.64035713_64035714insCCCCCGCCACCTCCTCCCCGCCCGCTGCCCCCCCCTCC, NC_000011.10:g.64035713_64035714insCCCCCGCCACCTCCTCCCCGCCCGCTGCCTACCCCTCC, NC_000011.10:g.64035713_64035714insCCCCCGCCACCTCCTCCCCGCCCGCTGCCTCC, NC_000011.10:g.64035713_64035714insCCCCCGCCACCTCCTCCCCGCCCGCTGCCTCCCCC, NC_000011.10:g.64035713_64035714insCCCCCGCCACCTCCTCCCCGCCCGCTGCCTCCCCCTCC, NC_000011.10:g.64035713_64035714insCCCCCGCCACCTCCTCCCCGCCCGCTGCCTCCCCCTCCTCC, NC_000011.10:g.64035713_64035714insCCCCCGCCACCTCCTCCCCGCCCGCTGCCTCCCCCTCCTCCTCC, NC_000011.10:g.64035713_64035714insCCCCCGCCACCTCCTCCCCGCCCGCTGCCTCCCCCTCT, NC_000011.10:g.64035713_64035714insCCCCCGCCACCTCCTCCCCGCCCGCTGCCTCCCCCTTC, NC_000011.10:g.64035713_64035714insCCCCCGCCACCTCCTCCCCGCCCGCTGCCTCCCCGTCC, NC_000011.10:g.64035713_64035714insCCCCCGCCACCTCCTCCCCGCCCGCTGCCTCCCCTTCC, NC_000011.10:g.64035713_64035714insCCCCCGCCACCTCCTCCCCGCCCGCTGCCTTCCCCTCC, NC_000011.10:g.64035713_64035714insCCCCCGCCACCTCCTCCCCGTCCGCTGCCTCCCCCTCC, NC_000011.10:g.64035713_64035714insCCCCCGCCACCTCCTCCCGGCCCGCTGCCTCCCCCTCC, NC_000011.10:g.64035713_64035714insCCCCCGCCACCTCTTCCCCGCCCGCTGCCTCCCCCTCC, NC_000011.10:g.64035713_64035714insCCCCCGCCCCCTCCTCCCCGCCCGCTGCCTCCCCCTCC, NC_000011.10:g.64035713_64035714insCCCCTGCCACCTCCTCCCCGCCCGCTGCCTCCCCCTCC, NC_000011.9:g.63803185_63803186insCC, NC_000011.9:g.63803185_63803186insCCCACGCCACCTCCTCCCCGCCCGCTGCCTCCCCCTCC, NC_000011.9:g.63803185_63803186insCCCCAGCCACCTCCTCCCCGCCCGCTGCCTCCCCCTCC, NC_000011.9:g.63803185_63803186insCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCC, NC_000011.9:g.63803185_63803186insCCCCCGCC, NC_000011.9:g.63803185_63803186insCCCCCGCCACC, NC_000011.9:g.63803185_63803186insCCCCCGCCACCTCCTCCCCGCCCGCTGCC, NC_000011.9:g.63803185_63803186insCCCCCGCCACCTCCTCCCCGCCCGCTGCCCCCCCCTCC, NC_000011.9:g.63803185_63803186insCCCCCGCCACCTCCTCCCCGCCCGCTGCCTACCCCTCC, NC_000011.9:g.63803185_63803186insCCCCCGCCACCTCCTCCCCGCCCGCTGCCTCC, NC_000011.9:g.63803185_63803186insCCCCCGCCACCTCCTCCCCGCCCGCTGCCTCCCCC, NC_000011.9:g.63803185_63803186insCCCCCGCCACCTCCTCCCCGCCCGCTGCCTCCCCCTCC, NC_000011.9:g.63803185_63803186insCCCCCGCCACCTCCTCCCCGCCCGCTGCCTCCCCCTCCTCC, NC_000011.9:g.63803185_63803186insCCCCCGCCACCTCCTCCCCGCCCGCTGCCTCCCCCTCCTCCTCC, NC_000011.9:g.63803185_63803186insCCCCCGCCACCTCCTCCCCGCCCGCTGCCTCCCCCTCT, NC_000011.9:g.63803185_63803186insCCCCCGCCACCTCCTCCCCGCCCGCTGCCTCCCCCTTC, NC_000011.9:g.63803185_63803186insCCCCCGCCACCTCCTCCCCGCCCGCTGCCTCCCCGTCC, NC_000011.9:g.63803185_63803186insCCCCCGCCACCTCCTCCCCGCCCGCTGCCTCCCCTTCC, NC_000011.9:g.63803185_63803186insCCCCCGCCACCTCCTCCCCGCCCGCTGCCTTCCCCTCC, NC_000011.9:g.63803185_63803186insCCCCCGCCACCTCCTCCCCGTCCGCTGCCTCCCCCTCC, NC_000011.9:g.63803185_63803186insCCCCCGCCACCTCCTCCCGGCCCGCTGCCTCCCCCTCC, NC_000011.9:g.63803185_63803186insCCCCCGCCACCTCTTCCCCGCCCGCTGCCTCCCCCTCC, NC_000011.9:g.63803185_63803186insCCCCCGCCCCCTCCTCCCCGCCCGCTGCCTCCCCCTCC, NC_000011.9:g.63803185_63803186insCCCCTGCCACCTCCTCCCCGCCCGCTGCCTCCCCCTCC

Select item 149139583811.

rs1491395838 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 11:64118606 (GRCh38)
11:63886078 (GRCh37)
Canonical SPDI:: NC_000011.10:64118605:TC:
Gene:: FLRT1 (Varview), MACROD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.64118606_64118607del, NC_000011.9:g.63886078_63886079del, NM_013280.5:c.*314_*315del, NM_013280.4:c.*314_*315del, XM_006718522.3:c.*163_*164del, XM_006718522.2:c.*163_*164del, XM_006718522.1:c.*163_*164del, XM_047426698.1:c.*314_*315del, XM_047426699.1:c.*314_*315del, XM_047426697.1:c.*314_*315del, XM_047426696.1:c.*314_*315del, NM_001384466.1:c.*314_*315del

Select item 149136576512.

rs1491365765 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 11:64147394 (GRCh38)
11:63914867 (GRCh37)
Canonical SPDI:: NC_000011.10:64147394:C:CC
Gene:: MACROD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.64147395dup, NC_000011.9:g.63914867dup

Select item 149119948213.

rs1491199482 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 11:64101603 (GRCh38)
11:63869076 (GRCh37)
Canonical SPDI:: NC_000011.10:64101603:T:TT
Gene:: FLRT1 (Varview), MACROD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.64101604dup, NC_000011.9:g.63869076dup, XM_047426697.1:c.-2627dup

Select item 149114347214.

rs1491143472 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 11:64031497 (GRCh38)
11:63798969 (GRCh37)
Canonical SPDI:: NC_000011.10:64031494:TGTG:TG
Gene:: MACROD1 (Varview), LOC124902685 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TGTG=0./0 (ALFA)
HGVS:: NC_000011.10:g.64031495TG[1], NC_000011.9:g.63798967TG[1]

Select item 149109169315.

rs1491091693 has merged into rs58096977 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:64065798 (GRCh38)
11:63833270 (GRCh37)
Canonical SPDI:: NC_000011.10:64065789:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000011.10:64065789:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:64065789:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:64065789:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:64065789:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:64065789:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:64065789:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:64065789:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:64065789:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:64065789:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:64065789:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:64065789:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:64065789:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:64065789:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: FLRT1 (Varview), MACROD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000011.10:g.64065798_64065810del, NC_000011.10:g.64065801_64065810del, NC_000011.10:g.64065803_64065810del, NC_000011.10:g.64065805_64065810del, NC_000011.10:g.64065806_64065810del, NC_000011.10:g.64065807_64065810del, NC_000011.10:g.64065808_64065810del, NC_000011.10:g.64065809_64065810del, NC_000011.10:g.64065810del, NC_000011.10:g.64065810dup, NC_000011.10:g.64065809_64065810dup, NC_000011.10:g.64065808_64065810dup, NC_000011.10:g.64065807_64065810dup, NC_000011.10:g.64065806_64065810dup, NC_000011.9:g.63833270_63833282del, NC_000011.9:g.63833273_63833282del, NC_000011.9:g.63833275_63833282del, NC_000011.9:g.63833277_63833282del, NC_000011.9:g.63833278_63833282del, NC_000011.9:g.63833279_63833282del, NC_000011.9:g.63833280_63833282del, NC_000011.9:g.63833281_63833282del, NC_000011.9:g.63833282del, NC_000011.9:g.63833282dup, NC_000011.9:g.63833281_63833282dup, NC_000011.9:g.63833280_63833282dup, NC_000011.9:g.63833279_63833282dup, NC_000011.9:g.63833278_63833282dup

Select item 149108944516.

rs1491089445 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 11:64035713 (GRCh38)
11:63803185 (GRCh37)
Canonical SPDI:: NC_000011.10:64035712:GT:
Gene:: FLRT1 (Varview), MACROD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.006668/765 (GnomAD)
-=0.027668/456 (TOMMO)
HGVS:: NC_000011.10:g.64035713_64035714del, NC_000011.9:g.63803185_63803186del

Select item 149106842817.

rs1491068428 has merged into rs11354064 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 11:64072435 (GRCh38)
11:63839907 (GRCh37)
Canonical SPDI:: NC_000011.10:64072423:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:64072423:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:64072423:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:64072423:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: FLRT1 (Varview), MACROD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0.000129/2 (ALFA)
-=0.104633/524 (1000Genomes)
-=0.114897/30412 (TOPMED)
-=0.261667/157 (NorthernSweden)
-=0.275/11 (GENOME_DK)
HGVS:: NC_000011.10:g.64072435_64072436del, NC_000011.10:g.64072436del, NC_000011.10:g.64072436dup, NC_000011.10:g.64072435_64072436dup, NC_000011.9:g.63839907_63839908del, NC_000011.9:g.63839908del, NC_000011.9:g.63839908dup, NC_000011.9:g.63839907_63839908dup

Select item 149098454118.

rs1490984541 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:64156565 (GRCh38)
11:63924037 (GRCh37)
Canonical SPDI:: NC_000011.10:64156564:T:C
Gene:: MACROD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.64156565T>C, NC_000011.9:g.63924037T>C

Select item 149097205719.

rs1490972057 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATCGCTCGAGGCCCCCAGAGCAC>- [Show Flanks]
Chromosome:: 11:64039716 (GRCh38)
11:63807188 (GRCh37)
Canonical SPDI:: NC_000011.10:64039714:CATCGCTCGAGGCCCCCAGAGCAC:C
Gene:: FLRT1 (Varview), MACROD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.64039716_64039738del, NC_000011.9:g.63807188_63807210del

Select item 149095287120.

rs1490952871 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:64105920 (GRCh38)
11:63873392 (GRCh37)
Canonical SPDI:: NC_000011.10:64105919:T:C
Gene:: FLRT1 (Varview), MACROD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,5_prime_UTR_variant,intron_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.64105920T>C, NC_000011.9:g.63873392T>C, XM_047426698.1:c.-10254T>C

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