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Select item 14915116621.

rs1491511662 has merged into rs56390718 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:38039416 (GRCh38)
8:37896934 (GRCh37)
Canonical SPDI:: NC_000008.11:38039402:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:38039402:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:38039402:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:38039402:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:38039402:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:38039402:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:38039402:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:38039402:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:38039402:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:38039402:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:38039402:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:38039402:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:38039402:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:38039402:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: EIF4EBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
TTTTTT=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.38039416_38039423del, NC_000008.11:g.38039418_38039423del, NC_000008.11:g.38039419_38039423del, NC_000008.11:g.38039420_38039423del, NC_000008.11:g.38039421_38039423del, NC_000008.11:g.38039422_38039423del, NC_000008.11:g.38039423del, NC_000008.11:g.38039423dup, NC_000008.11:g.38039422_38039423dup, NC_000008.11:g.38039421_38039423dup, NC_000008.11:g.38039420_38039423dup, NC_000008.11:g.38039419_38039423dup, NC_000008.11:g.38039418_38039423dup, NC_000008.11:g.38039416_38039423dup, NC_000008.10:g.37896934_37896941del, NC_000008.10:g.37896936_37896941del, NC_000008.10:g.37896937_37896941del, NC_000008.10:g.37896938_37896941del, NC_000008.10:g.37896939_37896941del, NC_000008.10:g.37896940_37896941del, NC_000008.10:g.37896941del, NC_000008.10:g.37896941dup, NC_000008.10:g.37896940_37896941dup, NC_000008.10:g.37896939_37896941dup, NC_000008.10:g.37896938_37896941dup, NC_000008.10:g.37896937_37896941dup, NC_000008.10:g.37896936_37896941dup, NC_000008.10:g.37896934_37896941dup

Select item 14911283502.

rs1491128350 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 8:38039402 (GRCh38)
8:37896920 (GRCh37)
Canonical SPDI:: NC_000008.11:38039401:CT:
Gene:: EIF4EBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000008.11:g.38039402_38039403del, NC_000008.10:g.37896920_37896921del

Select item 14909695983.

rs1490969598 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:38042302 (GRCh38)
8:37899820 (GRCh37)
Canonical SPDI:: NC_000008.11:38042301:C:A,NC_000008.11:38042301:C:T
Gene:: EIF4EBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000071/1 (TOMMO)
HGVS:: NC_000008.11:g.38042302C>A, NC_000008.11:g.38042302C>T, NC_000008.10:g.37899820C>A, NC_000008.10:g.37899820C>T

Select item 14909628564.

rs1490962856 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:38043630 (GRCh38)
8:37901148 (GRCh37)
Canonical SPDI:: NC_000008.11:38043629:G:A,NC_000008.11:38043629:G:C
Gene:: EIF4EBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000223/1 (Estonian)
HGVS:: NC_000008.11:g.38043630G>A, NC_000008.11:g.38043630G>C, NC_000008.10:g.37901148G>A, NC_000008.10:g.37901148G>C

Select item 14909338015.

rs1490933801 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:38043378 (GRCh38)
8:37900896 (GRCh37)
Canonical SPDI:: NC_000008.11:38043377:T:G
Gene:: EIF4EBP1 (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_000008.11:g.38043378T>G, NC_000008.10:g.37900896T>G

Select item 14909274196.

rs1490927419 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:38046293 (GRCh38)
8:37903811 (GRCh37)
Canonical SPDI:: NC_000008.11:38046292:T:C
Gene:: EIF4EBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.38046293T>C, NC_000008.10:g.37903811T>C

Select item 14907123817.

rs1490712381 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 8:38048792 (GRCh38)
8:37906310 (GRCh37)
Canonical SPDI:: NC_000008.11:38048790:ATA:A
Gene:: EIF4EBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
-=0.00005/7 (GnomAD)
-=0.000053/14 (TOPMED)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000008.11:g.38048792_38048793del, NC_000008.10:g.37906310_37906311del

Select item 14905745828.

rs1490574582 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:38035819 (GRCh38)
8:37893337 (GRCh37)
Canonical SPDI:: NC_000008.11:38035818:C:T
Gene:: EIF4EBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.38035819C>T, NC_000008.10:g.37893337C>T

Select item 14905190429.

rs1490519042 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 8:38029364 (GRCh38)
8:37886882 (GRCh37)
Canonical SPDI:: NC_000008.11:38029363:T:C,NC_000008.11:38029363:T:G
Gene:: EIF4EBP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.00005/7 (GnomAD)
HGVS:: NC_000008.11:g.38029364T>C, NC_000008.11:g.38029364T>G, NC_000008.10:g.37886882T>C, NC_000008.10:g.37886882T>G

Select item 149043527710.

rs1490435277 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:38047547 (GRCh38)
8:37905065 (GRCh37)
Canonical SPDI:: NC_000008.11:38047546:C:T
Gene:: EIF4EBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000035/1 (TOMMO)
T=0.000036/5 (GnomAD)
T=0.000156/1 (1000Genomes)
T=0.004762/1 (Vietnamese)
HGVS:: NC_000008.11:g.38047547C>T, NC_000008.10:g.37905065C>T

Select item 149022190511.

rs1490221905 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:38049804 (GRCh38)
8:37907322 (GRCh37)
Canonical SPDI:: NC_000008.11:38049803:A:T
Gene:: EIF4EBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.38049804A>T, NC_000008.10:g.37907322A>T

Select item 149021414612.

rs1490214146 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:38049693 (GRCh38)
8:37907211 (GRCh37)
Canonical SPDI:: NC_000008.11:38049692:G:A
Gene:: EIF4EBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000106/3 (TOMMO)
A=0.000546/1 (Korea1K)
HGVS:: NC_000008.11:g.38049693G>A, NC_000008.10:g.37907211G>A

Select item 149013947013.

rs1490139470 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:38041906 (GRCh38)
8:37899424 (GRCh37)
Canonical SPDI:: NC_000008.11:38041905:C:G
Gene:: EIF4EBP1 (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_000008.11:g.38041906C>G, NC_000008.10:g.37899424C>G

Select item 149008874414.

rs1490088744 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:38032496 (GRCh38)
8:37890014 (GRCh37)
Canonical SPDI:: NC_000008.11:38032495:T:G
Gene:: EIF4EBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.38032496T>G, NC_000008.10:g.37890014T>G

Select item 149003227515.

rs1490032275 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 8:38030393 (GRCh38)
8:37887911 (GRCh37)
Canonical SPDI:: NC_000008.11:38030392:C:A,NC_000008.11:38030392:C:G
Gene:: EIF4EBP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.38030393C>A, NC_000008.11:g.38030393C>G, NC_000008.10:g.37887911C>A, NC_000008.10:g.37887911C>G, NG_062571.1:g.163C>A, NG_062571.1:g.163C>G

Select item 149002685516.

rs1490026855 has merged into rs3067026 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTTGTTGTTGTTGTT>-,GTT,GTTGTT,GTTGTTGTT,GTTGTTGTTGTT,GTTGTTGTTGTTGTTGTT,GTTGTTGTTGTTGTTGTTGTT,GTTGTTGTTGTTGTTGTTGTTGTT,GTTGTTGTTGTTGTTGTTGTTGTTGTT,GTTGTTGTTGTTGTTGTTGTTGTTGTTGTT,GTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTT,GTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTT [Show Flanks]
Chromosome:: 8:38040883 (GRCh38)
8:37898401 (GRCh37)
Canonical SPDI:: NC_000008.11:38040866:TGTTGTTGTTGTTGTTGTTGTTGTTGTTGTT:TGTTGTTGTTGTTGTT,NC_000008.11:38040866:TGTTGTTGTTGTTGTTGTTGTTGTTGTTGTT:TGTTGTTGTTGTTGTTGTT,NC_000008.11:38040866:TGTTGTTGTTGTTGTTGTTGTTGTTGTTGTT:TGTTGTTGTTGTTGTTGTTGTT,NC_000008.11:38040866:TGTTGTTGTTGTTGTTGTTGTTGTTGTTGTT:TGTTGTTGTTGTTGTTGTTGTTGTT,NC_000008.11:38040866:TGTTGTTGTTGTTGTTGTTGTTGTTGTTGTT:TGTTGTTGTTGTTGTTGTTGTTGTTGTT,NC_000008.11:38040866:TGTTGTTGTTGTTGTTGTTGTTGTTGTTGTT:TGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTT,NC_000008.11:38040866:TGTTGTTGTTGTTGTTGTTGTTGTTGTTGTT:TGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTT,NC_000008.11:38040866:TGTTGTTGTTGTTGTTGTTGTTGTTGTTGTT:TGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTT,NC_000008.11:38040866:TGTTGTTGTTGTTGTTGTTGTTGTTGTTGTT:TGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTT,NC_000008.11:38040866:TGTTGTTGTTGTTGTTGTTGTTGTTGTTGTT:TGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTT,NC_000008.11:38040866:TGTTGTTGTTGTTGTTGTTGTTGTTGTTGTT:TGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTT,NC_000008.11:38040866:TGTTGTTGTTGTTGTTGTTGTTGTTGTTGTT:TGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTT
Gene:: EIF4EBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTTGTTGTTGTTGTTGTTGTTGTT=0./0 (ALFA)
HGVS:: NC_000008.11:g.38040868GTT[5], NC_000008.11:g.38040868GTT[6], NC_000008.11:g.38040868GTT[7], NC_000008.11:g.38040868GTT[8], NC_000008.11:g.38040868GTT[9], NC_000008.11:g.38040868GTT[11], NC_000008.11:g.38040868GTT[12], NC_000008.11:g.38040868GTT[13], NC_000008.11:g.38040868GTT[14], NC_000008.11:g.38040868GTT[15], NC_000008.11:g.38040868GTT[16], NC_000008.11:g.38040868GTT[17], NC_000008.10:g.37898386GTT[5], NC_000008.10:g.37898386GTT[6], NC_000008.10:g.37898386GTT[7], NC_000008.10:g.37898386GTT[8], NC_000008.10:g.37898386GTT[9], NC_000008.10:g.37898386GTT[11], NC_000008.10:g.37898386GTT[12], NC_000008.10:g.37898386GTT[13], NC_000008.10:g.37898386GTT[14], NC_000008.10:g.37898386GTT[15], NC_000008.10:g.37898386GTT[16], NC_000008.10:g.37898386GTT[17]

Select item 148994449617.

rs1489944496 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:38048712 (GRCh38)
8:37906230 (GRCh37)
Canonical SPDI:: NC_000008.11:38048711:C:T
Gene:: EIF4EBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000008.11:g.38048712C>T, NC_000008.10:g.37906230C>T

Select item 148993194018.

rs1489931940 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:38057972 (GRCh38)
8:37915490 (GRCh37)
Canonical SPDI:: NC_000008.11:38057971:A:G
Gene:: EIF4EBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000106/3 (TOMMO)
HGVS:: NC_000008.11:g.38057972A>G, NC_000008.10:g.37915490A>G

Select item 148975095019.

rs1489750950 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:38034246 (GRCh38)
8:37891764 (GRCh37)
Canonical SPDI:: NC_000008.11:38034245:A:G
Gene:: EIF4EBP1 (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_000008.11:g.38034246A>G, NC_000008.10:g.37891764A>G

Select item 148968841920.

rs1489688419 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:38029360 (GRCh38)
8:37886878 (GRCh37)
Canonical SPDI:: NC_000008.11:38029359:C:T
Gene:: EIF4EBP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.38029360C>T, NC_000008.10:g.37886878C>T

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