SNP Links for Gene (Select 51479) - SNP

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Select item 14915785561.

rs1491578556 has merged into rs1173971536 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT [Show Flanks]
Chromosome:: 17:4213576 (GRCh38)
17:4116871 (GRCh37)
Canonical SPDI:: NC_000017.11:4213566:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:4213566:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:4213566:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:4213566:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:4213566:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:4213566:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:4213566:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: ANKFY1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.008333/5 (NorthernSweden)
HGVS:: NC_000017.11:g.4213576_4213582del, NC_000017.11:g.4213579_4213582del, NC_000017.11:g.4213580_4213582del, NC_000017.11:g.4213581_4213582del, NC_000017.11:g.4213582del, NC_000017.11:g.4213582dup, NC_000017.11:g.4213581_4213582dup, NC_000017.10:g.4116871_4116877del, NC_000017.10:g.4116874_4116877del, NC_000017.10:g.4116875_4116877del, NC_000017.10:g.4116876_4116877del, NC_000017.10:g.4116877del, NC_000017.10:g.4116877dup, NC_000017.10:g.4116876_4116877dup

Select item 14915620962.

rs1491562096 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:4213567 (GRCh38)
17:4116863 (GRCh37)
Canonical SPDI:: NC_000017.11:4213567::C
Gene:: ANKFY1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.4213567_4213568insC, NC_000017.10:g.4116862_4116863insC

Select item 14914063743.

rs1491406374 has merged into rs60135844 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 17:4209069 (GRCh38)
17:4112364 (GRCh37)
Canonical SPDI:: NC_000017.11:4209059:AAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:4209059:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:4209059:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:4209059:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:4209059:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: ANKFY1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.00552/93 (TOMMO)
A=0.0096/37 (ALSPAC)
A=0.0116/43 (TWINSUK)
A=0.04515/27 (NorthernSweden)
A=0.05/2 (GENOME_DK)
A=0.15515/777 (1000Genomes)
HGVS:: NC_000017.11:g.4209069_4209072del, NC_000017.11:g.4209071_4209072del, NC_000017.11:g.4209072del, NC_000017.11:g.4209072dup, NC_000017.11:g.4209071_4209072dup, NC_000017.10:g.4112364_4112367del, NC_000017.10:g.4112366_4112367del, NC_000017.10:g.4112367del, NC_000017.10:g.4112367dup, NC_000017.10:g.4112366_4112367dup

Select item 14913862674.

rs1491386267 has merged into rs35005172 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACACACACACACACACACACACACACACAC>-,ACAC,ACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 17:4196155 (GRCh38)
17:4099450 (GRCh37)
Canonical SPDI:: NC_000017.11:4196144:ACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACAC,NC_000017.11:4196144:ACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACAC,NC_000017.11:4196144:ACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000017.11:4196144:ACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000017.11:4196144:ACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000017.11:4196144:ACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000017.11:4196144:ACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000017.11:4196144:ACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000017.11:4196144:ACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000017.11:4196144:ACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000017.11:4196144:ACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000017.11:4196144:ACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000017.11:4196144:ACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:4196144:ACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:4196144:ACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:4196144:ACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:4196144:ACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:4196144:ACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:4196144:ACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:4196144:ACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
Gene:: ANKFY1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACAC=0./0 (ALFA)
ACACACAC=0./0 (GENOME_DK)
HGVS:: NC_000017.11:g.4196145AC[5], NC_000017.11:g.4196145AC[7], NC_000017.11:g.4196145AC[9], NC_000017.11:g.4196145AC[11], NC_000017.11:g.4196145AC[12], NC_000017.11:g.4196145AC[13], NC_000017.11:g.4196145AC[14], NC_000017.11:g.4196145AC[15], NC_000017.11:g.4196145AC[16], NC_000017.11:g.4196145AC[17], NC_000017.11:g.4196145AC[18], NC_000017.11:g.4196145AC[19], NC_000017.11:g.4196145AC[20], NC_000017.11:g.4196145AC[21], NC_000017.11:g.4196145AC[22], NC_000017.11:g.4196145AC[23], NC_000017.11:g.4196145AC[25], NC_000017.11:g.4196145AC[26], NC_000017.11:g.4196145AC[27], NC_000017.11:g.4196145AC[28], NC_000017.10:g.4099440AC[5], NC_000017.10:g.4099440AC[7], NC_000017.10:g.4099440AC[9], NC_000017.10:g.4099440AC[11], NC_000017.10:g.4099440AC[12], NC_000017.10:g.4099440AC[13], NC_000017.10:g.4099440AC[14], NC_000017.10:g.4099440AC[15], NC_000017.10:g.4099440AC[16], NC_000017.10:g.4099440AC[17], NC_000017.10:g.4099440AC[18], NC_000017.10:g.4099440AC[19], NC_000017.10:g.4099440AC[20], NC_000017.10:g.4099440AC[21], NC_000017.10:g.4099440AC[22], NC_000017.10:g.4099440AC[23], NC_000017.10:g.4099440AC[25], NC_000017.10:g.4099440AC[26], NC_000017.10:g.4099440AC[27], NC_000017.10:g.4099440AC[28]

Select item 14913472715.

rs1491347271 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:4260618 (GRCh38)
17:4163913 (GRCh37)
Canonical SPDI:: NC_000017.11:4260617:CA:
Gene:: ANKFY1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.4260618_4260619del, NC_000017.10:g.4163913_4163914del

Select item 14913173656.

rs1491317365 has merged into rs11392631 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:4180770 (GRCh38)
17:4084065 (GRCh37)
Canonical SPDI:: NC_000017.11:4180760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:4180760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:4180760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:4180760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:4180760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:4180760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:4180760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:4180760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:4180760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:4180760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:4180760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:4180760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:4180760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4180760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4180760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4180760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4180760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4180760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4180760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4180760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4180760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4180760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4180760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4180760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4180760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4180760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4180760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ANKFY1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.4180770_4180784del, NC_000017.11:g.4180771_4180784del, NC_000017.11:g.4180772_4180784del, NC_000017.11:g.4180773_4180784del, NC_000017.11:g.4180774_4180784del, NC_000017.11:g.4180775_4180784del, NC_000017.11:g.4180776_4180784del, NC_000017.11:g.4180777_4180784del, NC_000017.11:g.4180778_4180784del, NC_000017.11:g.4180779_4180784del, NC_000017.11:g.4180780_4180784del, NC_000017.11:g.4180781_4180784del, NC_000017.11:g.4180782_4180784del, NC_000017.11:g.4180783_4180784del, NC_000017.11:g.4180784del, NC_000017.11:g.4180784dup, NC_000017.11:g.4180783_4180784dup, NC_000017.11:g.4180782_4180784dup, NC_000017.11:g.4180781_4180784dup, NC_000017.11:g.4180780_4180784dup, NC_000017.11:g.4180779_4180784dup, NC_000017.11:g.4180778_4180784dup, NC_000017.11:g.4180777_4180784dup, NC_000017.11:g.4180776_4180784dup, NC_000017.11:g.4180775_4180784dup, NC_000017.11:g.4180772_4180784dup, NC_000017.11:g.4180770_4180784dup, NC_000017.10:g.4084065_4084079del, NC_000017.10:g.4084066_4084079del, NC_000017.10:g.4084067_4084079del, NC_000017.10:g.4084068_4084079del, NC_000017.10:g.4084069_4084079del, NC_000017.10:g.4084070_4084079del, NC_000017.10:g.4084071_4084079del, NC_000017.10:g.4084072_4084079del, NC_000017.10:g.4084073_4084079del, NC_000017.10:g.4084074_4084079del, NC_000017.10:g.4084075_4084079del, NC_000017.10:g.4084076_4084079del, NC_000017.10:g.4084077_4084079del, NC_000017.10:g.4084078_4084079del, NC_000017.10:g.4084079del, NC_000017.10:g.4084079dup, NC_000017.10:g.4084078_4084079dup, NC_000017.10:g.4084077_4084079dup, NC_000017.10:g.4084076_4084079dup, NC_000017.10:g.4084075_4084079dup, NC_000017.10:g.4084074_4084079dup, NC_000017.10:g.4084073_4084079dup, NC_000017.10:g.4084072_4084079dup, NC_000017.10:g.4084071_4084079dup, NC_000017.10:g.4084070_4084079dup, NC_000017.10:g.4084067_4084079dup, NC_000017.10:g.4084065_4084079dup

Select item 14912771207.

rs1491277120 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:4224942 (GRCh38)
17:4128238 (GRCh37)
Canonical SPDI:: NC_000017.11:4224942::C
Gene:: ANKFY1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000236/28 (GnomAD)
HGVS:: NC_000017.11:g.4224942_4224943insC, NC_000017.10:g.4128237_4128238insC, NG_005810.5:g.2977_2978insC

Select item 14912385658.

rs1491238565 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:4210708 (GRCh38)
17:4114003 (GRCh37)
Canonical SPDI:: NC_000017.11:4210707:CA:
Gene:: ANKFY1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
HGVS:: NC_000017.11:g.4210708_4210709del, NC_000017.10:g.4114003_4114004del

Select item 14912318929.

rs1491231892 has merged into rs963635669 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT [Show Flanks]
Chromosome:: 17:4224953 (GRCh38)
17:4128248 (GRCh37)
Canonical SPDI:: NC_000017.11:4224941:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:4224941:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:4224941:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:4224941:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:4224941:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:4224941:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:4224941:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:4224941:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: ANKFY1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.4224953_4224957del, NC_000017.11:g.4224955_4224957del, NC_000017.11:g.4224956_4224957del, NC_000017.11:g.4224957del, NC_000017.11:g.4224957dup, NC_000017.11:g.4224956_4224957dup, NC_000017.11:g.4224955_4224957dup, NC_000017.11:g.4224954_4224957dup, NC_000017.10:g.4128248_4128252del, NC_000017.10:g.4128250_4128252del, NC_000017.10:g.4128251_4128252del, NC_000017.10:g.4128252del, NC_000017.10:g.4128252dup, NC_000017.10:g.4128251_4128252dup, NC_000017.10:g.4128250_4128252dup, NC_000017.10:g.4128249_4128252dup, NG_005810.5:g.2988_2992del, NG_005810.5:g.2990_2992del, NG_005810.5:g.2991_2992del, NG_005810.5:g.2992del, NG_005810.5:g.2992dup, NG_005810.5:g.2991_2992dup, NG_005810.5:g.2990_2992dup, NG_005810.5:g.2989_2992dup

Select item 149121275510.

rs1491212755 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CG [Show Flanks]
Chromosome:: 17:4243091 (GRCh38)
17:4146387 (GRCh37)
Canonical SPDI:: NC_000017.11:4243091:G:GCG
Gene:: ANKFY1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GCG=0./0 (ALFA)
GC=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.4243092_4243093insCG, NC_000017.10:g.4146387_4146388insCG

Select item 149119006911.

rs1491190069 has merged into rs60030304 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:4260629 (GRCh38)
17:4163924 (GRCh37)
Canonical SPDI:: NC_000017.11:4260618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:4260618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:4260618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:4260618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:4260618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:4260618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:4260618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:4260618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:4260618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:4260618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:4260618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:4260618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4260618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4260618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4260618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4260618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4260618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4260618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4260618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4260618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4260618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4260618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4260618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4260618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ANKFY1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.4260629_4260642del, NC_000017.11:g.4260630_4260642del, NC_000017.11:g.4260631_4260642del, NC_000017.11:g.4260632_4260642del, NC_000017.11:g.4260633_4260642del, NC_000017.11:g.4260634_4260642del, NC_000017.11:g.4260635_4260642del, NC_000017.11:g.4260636_4260642del, NC_000017.11:g.4260637_4260642del, NC_000017.11:g.4260638_4260642del, NC_000017.11:g.4260639_4260642del, NC_000017.11:g.4260640_4260642del, NC_000017.11:g.4260641_4260642del, NC_000017.11:g.4260642del, NC_000017.11:g.4260642dup, NC_000017.11:g.4260641_4260642dup, NC_000017.11:g.4260640_4260642dup, NC_000017.11:g.4260639_4260642dup, NC_000017.11:g.4260637_4260642dup, NC_000017.11:g.4260636_4260642dup, NC_000017.11:g.4260631_4260642dup, NC_000017.11:g.4260630_4260642dup, NC_000017.11:g.4260629_4260642dup, NC_000017.11:g.4260625_4260642dup, NC_000017.10:g.4163924_4163937del, NC_000017.10:g.4163925_4163937del, NC_000017.10:g.4163926_4163937del, NC_000017.10:g.4163927_4163937del, NC_000017.10:g.4163928_4163937del, NC_000017.10:g.4163929_4163937del, NC_000017.10:g.4163930_4163937del, NC_000017.10:g.4163931_4163937del, NC_000017.10:g.4163932_4163937del, NC_000017.10:g.4163933_4163937del, NC_000017.10:g.4163934_4163937del, NC_000017.10:g.4163935_4163937del, NC_000017.10:g.4163936_4163937del, NC_000017.10:g.4163937del, NC_000017.10:g.4163937dup, NC_000017.10:g.4163936_4163937dup, NC_000017.10:g.4163935_4163937dup, NC_000017.10:g.4163934_4163937dup, NC_000017.10:g.4163932_4163937dup, NC_000017.10:g.4163931_4163937dup, NC_000017.10:g.4163926_4163937dup, NC_000017.10:g.4163925_4163937dup, NC_000017.10:g.4163924_4163937dup, NC_000017.10:g.4163920_4163937dup

Select item 149118396712.

rs1491183967 [Homo sapiens]

Variant type:: INS
Alleles:: ->GA [Show Flanks]
Chromosome:: 17:4188869 (GRCh38)
17:4092165 (GRCh37)
Canonical SPDI:: NC_000017.11:4188869::GA
Gene:: ANKFY1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GA=0./0 (ALFA)
GA=0.000034/4 (GnomAD)
HGVS:: NC_000017.11:g.4188869_4188870insGA, NC_000017.10:g.4092164_4092165insGA

Select item 149114063513.

rs1491140635 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 17:4196144 (GRCh38)
17:4099439 (GRCh37)
Canonical SPDI:: NC_000017.11:4196143:TA:
Gene:: ANKFY1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000017.11:g.4196144_4196145del, NC_000017.10:g.4099439_4099440del

Select item 149110850214.

rs1491108502 has merged into rs869240423 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:4211923 (GRCh38)
17:4115218 (GRCh37)
Canonical SPDI:: NC_000017.11:4211921:ACA:A
Gene:: ANKFY1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000107/1 (TOMMO)
-=0.000114/2 (GnomAD)
HGVS:: NC_000017.11:g.4211923_4211924del, NC_000017.10:g.4115218_4115219del

Select item 149110235915.

rs1491102359 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 17:4243093 (GRCh38)
17:4146388 (GRCh37)
Canonical SPDI:: NC_000017.11:4243090:AGAG:AG
Gene:: ANKFY1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0.000142/2 (ALFA)
-=0.000098/26 (TOPMED)
-=0.000114/16 (GnomAD)
HGVS:: NC_000017.11:g.4243091AG[1], NC_000017.10:g.4146386AG[1]

Select item 149101730416.

rs1491017304 has merged into rs35264086 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:4212784 (GRCh38)
17:4116079 (GRCh37)
Canonical SPDI:: NC_000017.11:4212770:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:4212770:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:4212770:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:4212770:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:4212770:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:4212770:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:4212770:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:4212770:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:4212770:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:4212770:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:4212770:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ANKFY1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.4212784_4212789del, NC_000017.11:g.4212785_4212789del, NC_000017.11:g.4212786_4212789del, NC_000017.11:g.4212787_4212789del, NC_000017.11:g.4212788_4212789del, NC_000017.11:g.4212789del, NC_000017.11:g.4212789dup, NC_000017.11:g.4212788_4212789dup, NC_000017.11:g.4212787_4212789dup, NC_000017.11:g.4212786_4212789dup, NC_000017.11:g.4212782_4212789dup, NC_000017.10:g.4116079_4116084del, NC_000017.10:g.4116080_4116084del, NC_000017.10:g.4116081_4116084del, NC_000017.10:g.4116082_4116084del, NC_000017.10:g.4116083_4116084del, NC_000017.10:g.4116084del, NC_000017.10:g.4116084dup, NC_000017.10:g.4116083_4116084dup, NC_000017.10:g.4116082_4116084dup, NC_000017.10:g.4116081_4116084dup, NC_000017.10:g.4116077_4116084dup

Select item 149100343617.

rs1491003436 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:4221901 (GRCh38)
17:4125196 (GRCh37)
Canonical SPDI:: NC_000017.11:4221900:G:A
Gene:: ANKFY1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.4221901G>A, NC_000017.10:g.4125196G>A

Select item 149098729118.

rs1490987291 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:4219433 (GRCh38)
17:4122728 (GRCh37)
Canonical SPDI:: NC_000017.11:4219432:A:C
Gene:: ANKFY1 (Varview)
Functional Consequence:: genic_upstream_transcript_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_000017.11:g.4219433A>C, NC_000017.10:g.4122728A>C

Select item 149095614519.

rs1490956145 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:4220369 (GRCh38)
17:4123664 (GRCh37)
Canonical SPDI:: NC_000017.11:4220368:C:T
Gene:: ANKFY1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.4220369C>T, NC_000017.10:g.4123664C>T

Select item 149095175820.

rs1490951758 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:4223736 (GRCh38)
17:4127031 (GRCh37)
Canonical SPDI:: NC_000017.11:4223735:T:G
Gene:: ANKFY1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.4223736T>G, NC_000017.10:g.4127031T>G, NG_005810.5:g.1771T>G

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