SNP Links for Gene (Select 3426) - SNP

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Select item 14915819481.

rs1491581948 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A,AA [Show Flanks]
Chromosome:: 4:109768276 (GRCh38)
4:110689433 (GRCh37)
Canonical SPDI:: NC_000004.12:109768276:A:AA,NC_000004.12:109768276:A:AAA
Gene:: CFI (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAA=0./0 (ALFA)
A=0.00061/16 (TOMMO)
HGVS:: NC_000004.12:g.109768277dup, NC_000004.12:g.109768277_109768278insAA, NC_000004.11:g.110689433dup, NC_000004.11:g.110689433_110689434insAA, NG_007569.1:g.38709dup, NG_007569.1:g.38709_38710insTT

Select item 14915579722.

rs1491557972 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 4:109752968 (GRCh38)
4:110674124 (GRCh37)
Canonical SPDI:: NC_000004.12:109752962:TATATAT:TATAT
Gene:: CFI (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000004.12:g.109752964AT[2], NC_000004.11:g.110674120AT[2], NG_007569.1:g.54018TA[2]

Select item 14915178933.

rs1491517893 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,AATATATATTTATTATATAAATAAATATTTATAA [Show Flanks]
Chromosome:: 4:109753005 (GRCh38)
4:110674162 (GRCh37)
Canonical SPDI:: NC_000004.12:109753005::A,NC_000004.12:109753005::AA,NC_000004.12:109753005::AATATATATTTATTATATAAATAAATATTTATAA
Gene:: CFI (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.00043/5 (ALFA)
HGVS:: NC_000004.12:g.109753005_109753006insA, NC_000004.12:g.109753005_109753006insAA, NC_000004.12:g.109753005_109753006insAATATATATTTATTATATAAATAAATATTTATAA, NC_000004.11:g.110674161_110674162insA, NC_000004.11:g.110674161_110674162insAA, NC_000004.11:g.110674161_110674162insAATATATATTTATTATATAAATAAATATTTATAA, NG_007569.1:g.53980_53981insT, NG_007569.1:g.53980_53981insTT, NG_007569.1:g.53980_53981insTTATAAATATTTATTTATATAATAAATATATATT

Select item 14915161024.

rs1491516102 has merged into rs574137250 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:109732866 (GRCh38)
4:110654022 (GRCh37)
Canonical SPDI:: NC_000004.12:109732856:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000004.12:109732856:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:109732856:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:109732856:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:109732856:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:109732856:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:109732856:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:109732856:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:109732856:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CFI (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0.0013/8 (ALFA)
-=0.1777/685 (ALSPAC)
-=0.4067/2037 (1000Genomes)
HGVS:: NC_000004.12:g.109732866_109732872del, NC_000004.12:g.109732868_109732872del, NC_000004.12:g.109732869_109732872del, NC_000004.12:g.109732870_109732872del, NC_000004.12:g.109732871_109732872del, NC_000004.12:g.109732872del, NC_000004.12:g.109732872dup, NC_000004.12:g.109732871_109732872dup, NC_000004.12:g.109732865_109732872dup, NC_000004.11:g.110654022_110654028del, NC_000004.11:g.110654024_110654028del, NC_000004.11:g.110654025_110654028del, NC_000004.11:g.110654026_110654028del, NC_000004.11:g.110654027_110654028del, NC_000004.11:g.110654028del, NC_000004.11:g.110654028dup, NC_000004.11:g.110654027_110654028dup, NC_000004.11:g.110654021_110654028dup

Select item 14915122175.

rs1491512217 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 4:109756925 (GRCh38)
4:110678081 (GRCh37)
Canonical SPDI:: NC_000004.12:109756923:AGA:A
Gene:: CFI (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000169/2 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.109756925_109756926del, NC_000004.11:g.110678081_110678082del, NG_007569.1:g.50061_50062del

Select item 14915059416.

rs1491505941 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 4:109756901 (GRCh38)
4:110678057 (GRCh37)
Canonical SPDI:: NC_000004.12:109756899:AGA:A
Gene:: CFI (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000004.12:g.109756901_109756902del, NC_000004.11:g.110678057_110678058del, NG_007569.1:g.50085_50086del

Select item 14914584467.

rs1491458446 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->TA
Chromosome:: no mapping
Canonical SPDI:

Select item 14914453578.

rs1491445357 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 4:109756941 (GRCh38)
4:110678097 (GRCh37)
Canonical SPDI:: NC_000004.12:109756939:AGA:A
Gene:: CFI (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
HGVS:: NC_000004.12:g.109756941_109756942del, NC_000004.11:g.110678097_110678098del, NG_007569.1:g.50045_50046del

Select item 14914340249.

rs1491434024 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 4:109756945 (GRCh38)
4:110678101 (GRCh37)
Canonical SPDI:: NC_000004.12:109756943:AGA:A
Gene:: CFI (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.109756945_109756946del, NC_000004.11:g.110678101_110678102del, NG_007569.1:g.50041_50042del

Select item 149142443410.

rs1491424434 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:109732856 (GRCh38)
4:110654012 (GRCh37)
Canonical SPDI:: NC_000004.12:109732855:CA:
Gene:: CFI (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000004.12:g.109732856_109732857del, NC_000004.11:g.110654012_110654013del

Select item 149141112511.

rs1491411125 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA [Show Flanks]
Chromosome:: 4:109756929 (GRCh38)
4:110678085 (GRCh37)
Canonical SPDI:: NC_000004.12:109756927:AGA:A,NC_000004.12:109756927:AGA:AGAGA
Gene:: CFI (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000084/1 (ALFA)
-=0.000029/4 (GnomAD)
HGVS:: NC_000004.12:g.109756929_109756930del, NC_000004.12:g.109756929_109756930dup, NC_000004.11:g.110678085_110678086del, NC_000004.11:g.110678085_110678086dup, NG_007569.1:g.50057_50058del, NG_007569.1:g.50057_50058dup

Select item 149140203612.

rs1491402036 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 4:109753578 (GRCh38)
4:110674734 (GRCh37)
Canonical SPDI:: NC_000004.12:109753571:ATATATAT:ATATAT
Gene:: CFI (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATAT=0.32221/3822 (ALFA)
-=0.01891/179 (GnomAD)
HGVS:: NC_000004.12:g.109753572AT[3], NC_000004.11:g.110674728AT[3], NG_007569.1:g.53407AT[3]

Select item 149140146613.

rs1491401466 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 4:109756921 (GRCh38)
4:110678077 (GRCh37)
Canonical SPDI:: NC_000004.12:109756919:AGA:A
Gene:: CFI (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000008/1 (GnomAD)
HGVS:: NC_000004.12:g.109756921_109756922del, NC_000004.11:g.110678077_110678078del, NG_007569.1:g.50065_50066del

Select item 149139379914.

rs1491393799 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 4:109756936 (GRCh38)
4:110678093 (GRCh37)
Canonical SPDI:: NC_000004.12:109756936:G:GG
Gene:: CFI (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000004.12:g.109756937dup, NC_000004.11:g.110678093dup, NG_007569.1:g.50049dup

Select item 149132292315.

rs1491322923 has merged into rs756365540 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,AAA,AAAAAA,AAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGGGTATGCCTCCCATCTTGACCAGGAAAAAACCCAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAGAAGGGTATGACTGCCATCTTGACCAAGAAAAAAACCAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAGAAGGGTATGACTGCAATCTTGACCAAAAAGAAATCCAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAGAGGATTAGTTTCTAACTTGACATGAAAAAAAACCAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:109768338 (GRCh38)
4:110689494 (GRCh37)
Canonical SPDI:: NC_000004.12:109768334:AAAAAAAAAAAAAAAAAAA:AAA,NC_000004.12:109768334:AAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000004.12:109768334:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000004.12:109768334:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:109768334:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:109768334:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:109768334:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:109768334:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:109768334:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:109768334:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109768334:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109768334:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109768334:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109768334:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109768334:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109768334:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109768334:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109768334:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109768334:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109768334:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109768334:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109768334:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109768334:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109768334:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109768334:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109768334:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109768334:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGGGTATGCCTCCCATCTTGACCAGGAAAAAACCCAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109768334:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGGGTATGACTGCCATCTTGACCAAGAAAAAAACCAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109768334:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGGGTATGACTGCAATCTTGACCAAAAAGAAATCCAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109768334:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAGAGGATTAGTTTCTAACTTGACATGAAAAAAAACCAAAAAAAAAAAAAAAAAAAA
Gene:: CFI (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
-=0.25/10 (GENOME_DK)
HGVS:: NC_000004.12:g.109768338_109768353del, NC_000004.12:g.109768341_109768353del, NC_000004.12:g.109768344_109768353del, NC_000004.12:g.109768345_109768353del, NC_000004.12:g.109768349_109768353del, NC_000004.12:g.109768351_109768353del, NC_000004.12:g.109768352_109768353del, NC_000004.12:g.109768353del, NC_000004.12:g.109768353dup, NC_000004.12:g.109768352_109768353dup, NC_000004.12:g.109768351_109768353dup, NC_000004.12:g.109768350_109768353dup, NC_000004.12:g.109768349_109768353dup, NC_000004.12:g.109768348_109768353dup, NC_000004.12:g.109768347_109768353dup, NC_000004.12:g.109768346_109768353dup, NC_000004.12:g.109768345_109768353dup, NC_000004.12:g.109768344_109768353dup, NC_000004.12:g.109768343_109768353dup, NC_000004.12:g.109768342_109768353dup, NC_000004.12:g.109768341_109768353dup, NC_000004.12:g.109768340_109768353dup, NC_000004.12:g.109768339_109768353dup, NC_000004.12:g.109768338_109768353dup, NC_000004.12:g.109768337_109768353dup, NC_000004.12:g.109768336_109768353dup, NC_000004.12:g.109768335_109768353A[30]GAAGGGTATGCCTCCCATCTTGACCAGGAAAAAACCCAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.12:g.109768335_109768353A[28]GAAGGGTATGACTGCCATCTTGACCAAGAAAAAAACCAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.12:g.109768335_109768353A[27]GAAGGGTATGACTGCAATCTTGACCAAAAAGAAATCCAAAAAAAAAAAAAAAAAAAA[1], NC_000004.12:g.109768335_109768353A[27]GAGGATTAGTTTCTAACTTGACATGAAAAAAAACCAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.110689494_110689509del, NC_000004.11:g.110689497_110689509del, NC_000004.11:g.110689500_110689509del, NC_000004.11:g.110689501_110689509del, NC_000004.11:g.110689505_110689509del, NC_000004.11:g.110689507_110689509del, NC_000004.11:g.110689508_110689509del, NC_000004.11:g.110689509del, NC_000004.11:g.110689509dup, NC_000004.11:g.110689508_110689509dup, NC_000004.11:g.110689507_110689509dup, NC_000004.11:g.110689506_110689509dup, NC_000004.11:g.110689505_110689509dup, NC_000004.11:g.110689504_110689509dup, NC_000004.11:g.110689503_110689509dup, NC_000004.11:g.110689502_110689509dup, NC_000004.11:g.110689501_110689509dup, NC_000004.11:g.110689500_110689509dup, NC_000004.11:g.110689499_110689509dup, NC_000004.11:g.110689498_110689509dup, NC_000004.11:g.110689497_110689509dup, NC_000004.11:g.110689496_110689509dup, NC_000004.11:g.110689495_110689509dup, NC_000004.11:g.110689494_110689509dup, NC_000004.11:g.110689493_110689509dup, NC_000004.11:g.110689492_110689509dup, NC_000004.11:g.110689491_110689509A[30]GAAGGGTATGCCTCCCATCTTGACCAGGAAAAAACCCAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.110689491_110689509A[28]GAAGGGTATGACTGCCATCTTGACCAAGAAAAAAACCAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.110689491_110689509A[27]GAAGGGTATGACTGCAATCTTGACCAAAAAGAAATCCAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.110689491_110689509A[27]GAGGATTAGTTTCTAACTTGACATGAAAAAAAACCAAAAAAAAAAAAAAAAAAAA[1], NG_007569.1:g.38636_38651del, NG_007569.1:g.38639_38651del, NG_007569.1:g.38642_38651del, NG_007569.1:g.38643_38651del, NG_007569.1:g.38647_38651del, NG_007569.1:g.38649_38651del, NG_007569.1:g.38650_38651del, NG_007569.1:g.38651del, NG_007569.1:g.38651dup, NG_007569.1:g.38650_38651dup, NG_007569.1:g.38649_38651dup, NG_007569.1:g.38648_38651dup, NG_007569.1:g.38647_38651dup, NG_007569.1:g.38646_38651dup, NG_007569.1:g.38645_38651dup, NG_007569.1:g.38644_38651dup, NG_007569.1:g.38643_38651dup, NG_007569.1:g.38642_38651dup, NG_007569.1:g.38641_38651dup, NG_007569.1:g.38640_38651dup, NG_007569.1:g.38639_38651dup, NG_007569.1:g.38638_38651dup, NG_007569.1:g.38637_38651dup, NG_007569.1:g.38636_38651dup, NG_007569.1:g.38635_38651dup, NG_007569.1:g.38634_38651dup, NG_007569.1:g.38633_38651T[23]GGGTTTTTTCCTGGTCAAGATGGGAGGCATACCCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_007569.1:g.38633_38651T[21]GGTTTTTTTCTTGGTCAAGATGGCAGTCATACCCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_007569.1:g.38633_38651T[20]GGATTTCTTTTTGGTCAAGATTGCAGTCATACCCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_007569.1:g.38633_38651T[20]GGTTTTTTTTCATGTCAAGTTAGAAACTAATCCTCTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 149128145916.

rs1491281459 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTTATATAT,TTTATTATATG,TTTATTATGTG [Show Flanks]
Chromosome:: 4:109752936 (GRCh38)
4:110674093 (GRCh37)
Canonical SPDI:: NC_000004.12:109752936::TTTATATAT,NC_000004.12:109752936::TTTATTATATG,NC_000004.12:109752936::TTTATTATGTG
Gene:: CFI (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTATTATATG=0./0 (ALFA)
TTTATTATATG=0.00887/136 (TOMMO)
HGVS:: NC_000004.12:g.109752936_109752937insTTTATATAT, NC_000004.12:g.109752936_109752937insTTTATTATATG, NC_000004.12:g.109752936_109752937insTTTATTATGTG, NC_000004.11:g.110674092_110674093insTTTATATAT, NC_000004.11:g.110674092_110674093insTTTATTATATG, NC_000004.11:g.110674092_110674093insTTTATTATGTG, NG_007569.1:g.54049_54050insATATATAAA, NG_007569.1:g.54049_54050insCATATAATAAA, NG_007569.1:g.54049_54050insCACATAATAAA

Select item 149127730717.

rs1491277307 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 4:109783812 (GRCh38)
4:110704968 (GRCh37)
Canonical SPDI:: NC_000004.12:109783811:GA:
Gene:: CFI (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.109783812_109783813del, NC_000004.11:g.110704968_110704969del, NG_007569.1:g.23173_23174del

Select item 149127680118.

rs1491276801 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 4:109756928 (GRCh38)
4:110678085 (GRCh37)
Canonical SPDI:: NC_000004.12:109756928:G:GG
Gene:: CFI (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000004.12:g.109756929dup, NC_000004.11:g.110678085dup, NG_007569.1:g.50057dup

Select item 149125897819.

rs1491258978 [Homo sapiens]

Variant type:: INS
Alleles:: ->AC,TTCT [Show Flanks]
Chromosome:: 4:109756976 (GRCh38)
4:110678133 (GRCh37)
Canonical SPDI:: NC_000004.12:109756976::AC,NC_000004.12:109756976::TTCT
Gene:: CFI (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCT=0./0 (ALFA)
AC=0.000007/1 (GnomAD)
TTCT=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.109756976_109756977insAC, NC_000004.12:g.109756976_109756977insTTCT, NC_000004.11:g.110678132_110678133insAC, NC_000004.11:g.110678132_110678133insTTCT, NG_007569.1:g.50009_50010insGT, NG_007569.1:g.50009_50010insAGAA

Select item 149125030820.

rs1491250308 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 4:109756932 (GRCh38)
4:110678089 (GRCh37)
Canonical SPDI:: NC_000004.12:109756932:G:GG
Gene:: CFI (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000004.12:g.109756933dup, NC_000004.11:g.110678089dup, NG_007569.1:g.50053dup

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