SNP Links for Nucleotide (Select 1026346695) - SNP

Links from Nucleotide

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Select item 14914428381.

rs1491442838 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 20:57350848 (GRCh38)
20:55925904 (GRCh37)
Canonical SPDI:: NC_000020.11:57350847:AC:
Gene:: RAE1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00018/3 (TOMMO)
HGVS:: NC_000020.11:g.57350848_57350849del, NC_000020.10:g.55925904_55925905del, NG_047090.1:g.4760_4761del

Select item 14914271132.

rs1491427113 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGAA [Show Flanks]
Chromosome:: 20:57361113 (GRCh38)
20:55936170 (GRCh37)
Canonical SPDI:: NC_000020.11:57361113:GAA:GAAGGAA
Gene:: RAE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAAGGAA=0./0 (ALFA)
GAAG=0.000004/1 (TOPMED)
GAAG=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.57361116_57361117insGGAA, NC_000020.10:g.55936172_55936173insGGAA, NG_047090.1:g.15028_15029insGGAA

Select item 14913804383.

rs1491380438 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:57367739 (GRCh38)
20:55942795 (GRCh37)
Canonical SPDI:: NC_000020.11:57367738:CA:
Gene:: RAE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000020.11:g.57367739_57367740del, NC_000020.10:g.55942795_55942796del, NG_047090.1:g.21651_21652del

Select item 14912896684.

rs1491289668 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 20:57367122 (GRCh38)
20:55942179 (GRCh37)
Canonical SPDI:: NC_000020.11:57367122::T
Gene:: RAE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.57367122_57367123insT, NC_000020.10:g.55942178_55942179insT, NG_047090.1:g.21034_21035insT

Select item 14911104075.

rs1491110407 has merged into rs1174488609 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCGGGGGGGCGGGGGG>-,GCGGGGGG,GCGGGGGGGCGGGGGGGCGGGGGG,GCGGGGGGGCGGGGGGGCGGGGGGGCGGGGGG [Show Flanks]
Chromosome:: 20:57350856 (GRCh38)
20:55925912 (GRCh37)
Canonical SPDI:: NC_000020.11:57350848:CGGGGGGGCGGGGGGGCGGGGGG:CGGGGGG,NC_000020.11:57350848:CGGGGGGGCGGGGGGGCGGGGGG:CGGGGGGGCGGGGGG,NC_000020.11:57350848:CGGGGGGGCGGGGGGGCGGGGGG:CGGGGGGGCGGGGGGGCGGGGGGGCGGGGGG,NC_000020.11:57350848:CGGGGGGGCGGGGGGGCGGGGGG:CGGGGGGGCGGGGGGGCGGGGGGGCGGGGGGGCGGGGGG
Gene:: RAE1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGGGGGGGCGGGGGG=0./0 (ALFA)
HGVS:: NC_000020.11:g.57350856_57350871del, NC_000020.11:g.57350856GCGGGGGG[1], NC_000020.11:g.57350856GCGGGGGG[3], NC_000020.11:g.57350856GCGGGGGG[4], NC_000020.10:g.55925912_55925927del, NC_000020.10:g.55925912GCGGGGGG[1], NC_000020.10:g.55925912GCGGGGGG[3], NC_000020.10:g.55925912GCGGGGGG[4], NG_047090.1:g.4768_4783del, NG_047090.1:g.4768GCGGGGGG[1], NG_047090.1:g.4768GCGGGGGG[3], NG_047090.1:g.4768GCGGGGGG[4]

Select item 14910159406.

rs1491015940 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 20:57348931 (GRCh38)
20:55923988 (GRCh37)
Canonical SPDI:: NC_000020.11:57348931:T:TT
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.57348932dup, NC_000020.10:g.55923988dup, NG_047090.1:g.2844dup

Select item 14909080037.

rs1490908003 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:57360356 (GRCh38)
20:55935412 (GRCh37)
Canonical SPDI:: NC_000020.11:57360355:T:C
Gene:: RAE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.57360356T>C, NC_000020.10:g.55935412T>C, NG_047090.1:g.14268T>C

Select item 14906572758.

rs1490657275 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:57350164 (GRCh38)
20:55925220 (GRCh37)
Canonical SPDI:: NC_000020.11:57350163:A:G
Gene:: RAE1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000029/4 (GnomAD)
G=0.000342/1 (KOREAN)
HGVS:: NC_000020.11:g.57350164A>G, NC_000020.10:g.55925220A>G, NG_047090.1:g.4076A>G

Select item 14906398819.

rs1490639881 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:57379652 (GRCh38)
20:55954708 (GRCh37)
Canonical SPDI:: NC_000020.11:57379651:T:A
Gene:: RAE1 (Varview), LOC124904938 (Varview)
Functional Consequence:: 500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.57379652T>A, NC_000020.10:g.55954708T>A, NG_047090.1:g.33564T>A, XR_007067671.1:n.2953A>T

Select item 149042696110.

rs1490426961 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:57352864 (GRCh38)
20:55927920 (GRCh37)
Canonical SPDI:: NC_000020.11:57352863:C:T
Gene:: RAE1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.57352864C>T, NC_000020.10:g.55927920C>T, NG_047090.1:g.6776C>T, XM_011529089.2:c.-290C>T

Select item 149035390711.

rs1490353907 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:57367433 (GRCh38)
20:55942489 (GRCh37)
Canonical SPDI:: NC_000020.11:57367432:C:T
Gene:: RAE1 (Varview)
Functional Consequence:: intron_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_000020.11:g.57367433C>T, NC_000020.10:g.55942489C>T, NG_047090.1:g.21345C>T

Select item 149021131612.

rs1490211316 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:57354205 (GRCh38)
20:55929261 (GRCh37)
Canonical SPDI:: NC_000020.11:57354204:G:T
Gene:: RAE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.57354205G>T, NC_000020.10:g.55929261G>T, NG_047090.1:g.8117G>T

Select item 148986015513.

rs1489860155 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:57375819 (GRCh38)
20:55950875 (GRCh37)
Canonical SPDI:: NC_000020.11:57375818:G:A,NC_000020.11:57375818:G:T
Gene:: RAE1 (Varview), LOC124904938 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00003/8 (TOPMED)
A=0.000035/1 (TOMMO)
A=0.00005/7 (GnomAD)
HGVS:: NC_000020.11:g.57375819G>A, NC_000020.11:g.57375819G>T, NC_000020.10:g.55950875G>A, NC_000020.10:g.55950875G>T, NG_047090.1:g.29731G>A, NG_047090.1:g.29731G>T

Select item 148984144114.

rs1489841441 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:57350801 (GRCh38)
20:55925857 (GRCh37)
Canonical SPDI:: NC_000020.11:57350800:C:G,NC_000020.11:57350800:C:T
Gene:: RAE1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00014/2 (TOMMO)
T=0.00094/6 (1000Genomes)
T=0.00164/3 (Korea1K)
T=0.00276/8 (KOREAN)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000020.11:g.57350801C>G, NC_000020.11:g.57350801C>T, NC_000020.10:g.55925857C>G, NC_000020.10:g.55925857C>T, NG_047090.1:g.4713C>G, NG_047090.1:g.4713C>T

Select item 148982599415.

rs1489825994 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:57352323 (GRCh38)
20:55927379 (GRCh37)
Canonical SPDI:: NC_000020.11:57352322:G:A,NC_000020.11:57352322:G:C
Gene:: RAE1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
A=0.000106/2 (TOMMO)
C=0.000223/1 (Estonian)
HGVS:: NC_000020.11:g.57352323G>A, NC_000020.11:g.57352323G>C, NC_000020.10:g.55927379G>A, NC_000020.10:g.55927379G>C, NG_047090.1:g.6235G>A, NG_047090.1:g.6235G>C, XM_011529089.2:c.-831G>A, XM_011529089.2:c.-831G>C

Select item 148981681616.

rs1489816816 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:57360216 (GRCh38)
20:55935272 (GRCh37)
Canonical SPDI:: NC_000020.11:57360215:C:T
Gene:: RAE1 (Varview)
Functional Consequence:: intron_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_000020.11:g.57360216C>T, NC_000020.10:g.55935272C>T, NG_047090.1:g.14128C>T

Select item 148978781317.

rs1489787813 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 20:57361143 (GRCh38)
20:55936199 (GRCh37)
Canonical SPDI:: NC_000020.11:57361142:A:T
Gene:: RAE1 (Varview)
Functional Consequence:: intron_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_000020.11:g.57361143A>T, NC_000020.10:g.55936199A>T, NG_047090.1:g.15055A>T

Select item 148969920218.

rs1489699202 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTA>- [Show Flanks]
Chromosome:: 20:57376854 (GRCh38)
20:55951910 (GRCh37)
Canonical SPDI:: NC_000020.11:57376850:GTAGTA:GTA
Gene:: RAE1 (Varview), LOC124904938 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTAGTA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.57376851GTA[1], NC_000020.10:g.55951907GTA[1], NG_047090.1:g.30763GTA[1], XR_007067671.1:n.5375TAC[1]

Select item 148956792019.

rs1489567920 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:57377908 (GRCh38)
20:55952964 (GRCh37)
Canonical SPDI:: NC_000020.11:57377907:A:G
Gene:: RAE1 (Varview), LOC124904938 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
G=0.000106/2 (TOMMO)
HGVS:: NC_000020.11:g.57377908A>G, NC_000020.10:g.55952964A>G, NG_047090.1:g.31820A>G, XR_007067671.1:n.4697T>C

Select item 148955969220.

rs1489559692 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:57379447 (GRCh38)
20:55954503 (GRCh37)
Canonical SPDI:: NC_000020.11:57379446:G:A
Gene:: RAE1 (Varview), LOC124904938 (Varview)
Functional Consequence:: 500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.57379447G>A, NC_000020.10:g.55954503G>A, NG_047090.1:g.33359G>A, XR_007067671.1:n.3158C>T

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