SNP Links for Gene (Select 143244) - SNP

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Select item 14915726771.

rs1491572677 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 10:79513751 (GRCh38)
10:81273507 (GRCh37)
Canonical SPDI:: NC_000010.11:79513750:GA:
Gene:: EIF5AL1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.79513751_79513752del, NC_000010.10:g.81273507_81273508del, NM_001099692.2:c.*637_*638del, NM_001099692.1:c.*637_*638del

Select item 14893014052.

rs1489301405 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:79512176 (GRCh38)
10:81271932 (GRCh37)
Canonical SPDI:: NC_000010.11:79512175:T:C
Gene:: EIF5AL1 (Varview), LOC729815 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.79512176T>C, NC_000010.10:g.81271932T>C

Select item 14889344143.

rs1488934414 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:79511286 (GRCh38)
10:81271042 (GRCh37)
Canonical SPDI:: NC_000010.11:79511285:A:G
Gene:: EIF5AL1 (Varview), LOC729815 (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)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.79511286A>G, NC_000010.10:g.81271042A>G

Select item 14889043644.

rs1488904364 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:79512801 (GRCh38)
10:81272557 (GRCh37)
Canonical SPDI:: NC_000010.11:79512800:A:G
Gene:: EIF5AL1 (Varview), LOC729815 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.79512801A>G, NC_000010.10:g.81272557A>G, NM_001099692.2:c.152A>G, NM_001099692.1:c.152A>G, NP_001093162.1:p.His51Arg

Select item 14887779705.

rs1488777970 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:79515983 (GRCh38)
10:81275739 (GRCh37)
Canonical SPDI:: NC_000010.11:79515982:G:A,NC_000010.11:79515982:G:T
Gene:: EIF5AL1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
HGVS:: NC_000010.11:g.79515983G>A, NC_000010.11:g.79515983G>T, NC_000010.10:g.81275739G>A, NC_000010.10:g.81275739G>T, NM_001099692.2:c.*2869G>A, NM_001099692.2:c.*2869G>T, NM_001099692.1:c.*2869G>A, NM_001099692.1:c.*2869G>T

Select item 14886407206.

rs1488640720 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:79513152 (GRCh38)
10:81272908 (GRCh37)
Canonical SPDI:: NC_000010.11:79513151:T:C
Gene:: EIF5AL1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.79513152T>C, NC_000010.10:g.81272908T>C, NM_001099692.2:c.*38T>C, NM_001099692.1:c.*38T>C

Select item 14879320267.

rs1487932026 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:79512165 (GRCh38)
10:81271921 (GRCh37)
Canonical SPDI:: NC_000010.11:79512164:G:A,NC_000010.11:79512164:G:C
Gene:: EIF5AL1 (Varview), LOC729815 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000010.11:g.79512165G>A, NC_000010.11:g.79512165G>C, NC_000010.10:g.81271921G>A, NC_000010.10:g.81271921G>C

Select item 14873209768.

rs1487320976 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:79511453 (GRCh38)
10:81271209 (GRCh37)
Canonical SPDI:: NC_000010.11:79511452:T:G
Gene:: EIF5AL1 (Varview), LOC729815 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000010.11:g.79511453T>G, NC_000010.10:g.81271209T>G

Select item 14869268089.

rs1486926808 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:79511368 (GRCh38)
10:81271124 (GRCh37)
Canonical SPDI:: NC_000010.11:79511367:C:T
Gene:: EIF5AL1 (Varview), LOC729815 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.79511368C>T, NC_000010.10:g.81271124C>T

Select item 148667105310.

rs1486671053 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:79514528 (GRCh38)
10:81274284 (GRCh37)
Canonical SPDI:: NC_000010.11:79514527:G:A
Gene:: EIF5AL1 (Varview)
Functional Consequence:: 3_prime_UTR_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_000010.11:g.79514528G>A, NC_000010.10:g.81274284G>A, NM_001099692.2:c.*1414G>A, NM_001099692.1:c.*1414G>A

Select item 148648680911.

rs1486486809 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:79516931 (GRCh38)
10:81276687 (GRCh37)
Canonical SPDI:: NC_000010.11:79516930:T:C
Gene:: EIF5AL1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.79516931T>C, NC_000010.10:g.81276687T>C

Select item 148635695412.

rs1486356954 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:79513635 (GRCh38)
10:81273391 (GRCh37)
Canonical SPDI:: NC_000010.11:79513634:C:T
Gene:: EIF5AL1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.79513635C>T, NC_000010.10:g.81273391C>T, NM_001099692.2:c.*521C>T, NM_001099692.1:c.*521C>T

Select item 148555836613.

rs1485558366 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:79512868 (GRCh38)
10:81272624 (GRCh37)
Canonical SPDI:: NC_000010.11:79512867:C:T
Gene:: EIF5AL1 (Varview), LOC729815 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.79512868C>T, NC_000010.10:g.81272624C>T, NM_001099692.2:c.219C>T, NM_001099692.1:c.219C>T

Select item 148536005414.

rs1485360054 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 10:79510656 (GRCh38)
10:81270412 (GRCh37)
Canonical SPDI:: NC_000010.11:79510655:T:C,NC_000010.11:79510655:T:G
Gene:: EIF5AL1 (Varview), LOC729815 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000029/4 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000010.11:g.79510656T>C, NC_000010.11:g.79510656T>G, NC_000010.10:g.81270412T>C, NC_000010.10:g.81270412T>G

Select item 148480529715.

rs1484805297 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:79512179 (GRCh38)
10:81271935 (GRCh37)
Canonical SPDI:: NC_000010.11:79512178:G:A,NC_000010.11:79512178:G:T
Gene:: EIF5AL1 (Varview), LOC729815 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.79512179G>A, NC_000010.11:g.79512179G>T, NC_000010.10:g.81271935G>A, NC_000010.10:g.81271935G>T

Select item 148457000816.

rs1484570008 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 10:79516035 (GRCh38)
10:81275791 (GRCh37)
Canonical SPDI:: NC_000010.11:79516034:G:
Gene:: EIF5AL1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.79516035del, NC_000010.10:g.81275791del, NM_001099692.2:c.*2921del, NM_001099692.1:c.*2921del

Select item 148449502817.

rs1484495028 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:79511915 (GRCh38)
10:81271671 (GRCh37)
Canonical SPDI:: NC_000010.11:79511914:A:G
Gene:: EIF5AL1 (Varview), LOC729815 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000214/3 (ALFA)
G=0.000045/12 (TOPMED)
G=0.000057/8 (GnomAD)
HGVS:: NC_000010.11:g.79511915A>G, NC_000010.10:g.81271671A>G

Select item 148293638918.

rs1482936389 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 10:79513020 (GRCh38)
10:81272776 (GRCh37)
Canonical SPDI:: NC_000010.11:79513019:A:
Gene:: EIF5AL1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00101/12 (ALFA)
-=0.00187/12 (1000Genomes)
HGVS:: NC_000010.11:g.79513020del, NC_000010.10:g.81272776del, NM_001099692.2:c.371del, NM_001099692.1:c.371del, NP_001093162.1:p.Glu124fs

Select item 148278666019.

rs1482786660 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:79512267 (GRCh38)
10:81272023 (GRCh37)
Canonical SPDI:: NC_000010.11:79512266:G:T
Gene:: EIF5AL1 (Varview), LOC729815 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.79512267G>T, NC_000010.10:g.81272023G>T

Select item 148265940520.

rs1482659405 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:79511105 (GRCh38)
10:81270861 (GRCh37)
Canonical SPDI:: NC_000010.11:79511104:G:A
Gene:: EIF5AL1 (Varview), LOC729815 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000043/6 (GnomAD)
HGVS:: NC_000010.11:g.79511105G>A, NC_000010.10:g.81270861G>A

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