SNP Links for Gene (Select 100302242) - SNP

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Select item 14904388441.

rs1490438844 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:31957659 (GRCh38)
6:31925436 (GRCh37)
Canonical SPDI:: NC_000006.12:31957658:G:A,NC_000006.12:31957658:G:C
Gene:: SKIV2L (Varview), NELFE (Varview), MIR1236 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
A=0.000684/2 (KOREAN)
HGVS:: NC_000006.12:g.31957659G>A, NC_000006.12:g.31957659G>C, NC_000006.11:g.31925436G>A, NC_000006.11:g.31925436G>C, NG_032652.1:g.3856G>A, NG_032652.1:g.3856G>C, NT_113891.3:g.3435086G>A, NT_113891.3:g.3435086G>C, NT_113891.2:g.3435192G>A, NT_113891.2:g.3435192G>C, NT_167249.2:g.3258848G>A, NT_167249.2:g.3258848G>C, NT_167249.1:g.3258146G>A, NT_167249.1:g.3258146G>C, NT_167247.2:g.3299695G>A, NT_167247.2:g.3299695G>C, NT_167247.1:g.3305280G>A, NT_167247.1:g.3305280G>C, NT_167248.2:g.3213629G>A, NT_167248.2:g.3213629G>C, NT_167248.1:g.3219225G>A, NT_167248.1:g.3219225G>C, NT_167245.2:g.3205434G>A, NT_167245.2:g.3205434G>C, NT_167245.1:g.3211019G>A, NT_167245.1:g.3211019G>C

Select item 14897344142.

rs1489734414 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:31957472 (GRCh38)
6:31925249 (GRCh37)
Canonical SPDI:: NC_000006.12:31957471:A:G
Gene:: SKIV2L (Varview), NELFE (Varview), MIR1236 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31957472A>G, NC_000006.11:g.31925249A>G, NG_032652.1:g.3669A>G, NT_113891.3:g.3434899A>G, NT_113891.2:g.3435005A>G, NT_167249.2:g.3258661A>G, NT_167249.1:g.3257959A>G, NT_167247.2:g.3299508A>G, NT_167247.1:g.3305093A>G, NT_167248.2:g.3213442A>G, NT_167248.1:g.3219038A>G, NT_167245.2:g.3205247A>G, NT_167245.1:g.3210832A>G

Select item 14887235093.

rs1488723509 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31957755 (GRCh38)
6:31925532 (GRCh37)
Canonical SPDI:: NC_000006.12:31957754:G:A
Gene:: SKIV2L (Varview), NELFE (Varview), MIR1236 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_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_000006.12:g.31957755G>A, NC_000006.11:g.31925532G>A, NG_032652.1:g.3952G>A, NT_113891.3:g.3435182G>A, NT_113891.2:g.3435288G>A, NT_167249.2:g.3258944G>A, NT_167249.1:g.3258242G>A, NT_167247.2:g.3299791G>A, NT_167247.1:g.3305376G>A, NT_167248.2:g.3213725G>A, NT_167248.1:g.3219321G>A, NT_167245.2:g.3205530G>A, NT_167245.1:g.3211115G>A

Select item 14874861874.

rs1487486187 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31958873 (GRCh38)
6:31926650 (GRCh37)
Canonical SPDI:: NC_000006.12:31958872:G:A
Gene:: SKIV2L (Varview), NELFE (Varview), MIR1236 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.31958873G>A, NC_000006.11:g.31926650G>A, NG_032652.1:g.5070G>A, NT_113891.3:g.3436300G>A, NT_113891.2:g.3436406G>A, NT_167249.2:g.3260062G>A, NT_167249.1:g.3259360G>A, NT_167247.2:g.3300909G>A, NT_167247.1:g.3306494G>A, NT_167248.2:g.3214843G>A, NT_167248.1:g.3220439G>A, NT_167245.2:g.3206648G>A, NT_167245.1:g.3212233G>A, NM_006929.4:c.-320G>A, XM_047419355.1:c.-329C>T

Select item 14867572015.

rs1486757201 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:31956617 (GRCh38)
6:31924394 (GRCh37)
Canonical SPDI:: NC_000006.12:31956616:G:A,NC_000006.12:31956616:G:C
Gene:: NELFE (Varview), MIR1236 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.31956617G>A, NC_000006.12:g.31956617G>C, NC_000006.11:g.31924394G>A, NC_000006.11:g.31924394G>C, NG_032652.1:g.2814G>A, NG_032652.1:g.2814G>C, NT_113891.3:g.3434044G>A, NT_113891.3:g.3434044G>C, NT_113891.2:g.3434150G>A, NT_113891.2:g.3434150G>C, NT_167249.2:g.3257806G>A, NT_167249.2:g.3257806G>C, NT_167249.1:g.3257104G>A, NT_167249.1:g.3257104G>C, NT_167247.2:g.3298653G>A, NT_167247.2:g.3298653G>C, NT_167247.1:g.3304238G>A, NT_167247.1:g.3304238G>C, NT_167248.2:g.3212587G>A, NT_167248.2:g.3212587G>C, NT_167248.1:g.3218183G>A, NT_167248.1:g.3218183G>C, NT_167245.2:g.3204392G>A, NT_167245.2:g.3204392G>C, NT_167245.1:g.3209977G>A, NT_167245.1:g.3209977G>C

Select item 14867306936.

rs1486730693 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:31957093 (GRCh38)
6:31924870 (GRCh37)
Canonical SPDI:: NC_000006.12:31957092:T:C
Gene:: NELFE (Varview), MIR1236 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000006.12:g.31957093T>C, NC_000006.11:g.31924870T>C, NG_032652.1:g.3290T>C, NT_113891.3:g.3434520T>C, NT_113891.2:g.3434626T>C, NT_167249.2:g.3258282T>C, NT_167249.1:g.3257580T>C, NT_167247.2:g.3299129T>C, NT_167247.1:g.3304714T>C, NT_167248.2:g.3213063T>C, NT_167248.1:g.3218659T>C, NT_167245.2:g.3204868T>C, NT_167245.1:g.3210453T>C

Select item 14850371937.

rs1485037193 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:31957374 (GRCh38)
6:31925151 (GRCh37)
Canonical SPDI:: NC_000006.12:31957373:A:G
Gene:: SKIV2L (Varview), NELFE (Varview), MIR1236 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,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_000006.12:g.31957374A>G, NC_000006.11:g.31925151A>G, NG_032652.1:g.3571A>G, NT_113891.3:g.3434801A>G, NT_113891.2:g.3434907A>G, NT_167249.2:g.3258563A>G, NT_167249.1:g.3257861A>G, NT_167247.2:g.3299410A>G, NT_167247.1:g.3304995A>G, NT_167248.2:g.3213344A>G, NT_167248.1:g.3218940A>G, NT_167245.2:g.3205149A>G, NT_167245.1:g.3210734A>G

Select item 14823271988.

rs1482327198 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 6:31958031 (GRCh38)
6:31925808 (GRCh37)
Canonical SPDI:: NC_000006.12:31958030:T:A,NC_000006.12:31958030:T:C
Gene:: SKIV2L (Varview), NELFE (Varview), MIR1236 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.31958031T>A, NC_000006.12:g.31958031T>C, NC_000006.11:g.31925808T>A, NC_000006.11:g.31925808T>C, NG_032652.1:g.4228T>A, NG_032652.1:g.4228T>C, NT_113891.3:g.3435458T>A, NT_113891.3:g.3435458T>C, NT_113891.2:g.3435564T>A, NT_113891.2:g.3435564T>C, NT_167249.2:g.3259220T>A, NT_167249.2:g.3259220T>C, NT_167249.1:g.3258518T>A, NT_167249.1:g.3258518T>C, NT_167247.2:g.3300067T>A, NT_167247.2:g.3300067T>C, NT_167247.1:g.3305652T>A, NT_167247.1:g.3305652T>C, NT_167248.2:g.3214001T>A, NT_167248.2:g.3214001T>C, NT_167248.1:g.3219597T>A, NT_167248.1:g.3219597T>C, NT_167245.2:g.3205806T>A, NT_167245.2:g.3205806T>C, NT_167245.1:g.3211391T>A, NT_167245.1:g.3211391T>C

Select item 14803830139.

rs1480383013 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:31956923 (GRCh38)
6:31924700 (GRCh37)
Canonical SPDI:: NC_000006.12:31956922:A:C
Gene:: NELFE (Varview), MIR1236 (Varview)
Functional Consequence:: non_coding_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_000006.12:g.31956923A>C, NC_000006.11:g.31924700A>C, NG_032652.1:g.3120A>C, NT_113891.3:g.3434350A>C, NT_113891.2:g.3434456A>C, NT_167249.2:g.3258112A>C, NT_167249.1:g.3257410A>C, NT_167247.2:g.3298959A>C, NT_167247.1:g.3304544A>C, NT_167248.2:g.3212893A>C, NT_167248.1:g.3218489A>C, NT_167245.2:g.3204698A>C, NT_167245.1:g.3210283A>C, NR_031601.1:n.18T>G

Select item 147932641410.

rs1479326414 [Homo sapiens]

Variant type:: SNV:
Alleles:: C>A
Chromosome:: no mapping
Canonical SPDI:

Select item 147875862711.

rs1478758627 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31958427 (GRCh38)
6:31926204 (GRCh37)
Canonical SPDI:: NC_000006.12:31958426:C:T
Gene:: SKIV2L (Varview), NELFE (Varview), MIR1236 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31958427C>T, NC_000006.11:g.31926204C>T, NG_032652.1:g.4624C>T, NT_113891.3:g.3435854C>T, NT_113891.2:g.3435960C>T, NT_167249.2:g.3259616C>T, NT_167249.1:g.3258914C>T, NT_167247.2:g.3300463C>T, NT_167247.1:g.3306048C>T, NT_167248.2:g.3214397C>T, NT_167248.1:g.3219993C>T, NT_167245.2:g.3206202C>T, NT_167245.1:g.3211787C>T, NM_002904.6:c.20G>A, NM_002904.5:c.20G>A, XM_006715205.4:c.20G>A, XM_006715205.3:c.20G>A, XM_006715205.2:c.20G>A, XM_006715205.1:c.20G>A, XM_011514913.4:c.-210G>A, XM_011514913.3:c.-210G>A, XM_011514913.2:c.-210G>A, XM_011514913.1:c.-210G>A, XM_047419355.1:c.20G>A, XM_047419354.1:c.20G>A, XM_047419356.1:c.20G>A, NP_002895.3:p.Gly7Glu, XP_006715268.1:p.Gly7Glu, XP_047275311.1:p.Gly7Glu, XP_047275310.1:p.Gly7Glu, XP_047275312.1:p.Gly7Glu

Select item 147826645012.

rs1478266450 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31958916 (GRCh38)
6:31926693 (GRCh37)
Canonical SPDI:: NC_000006.12:31958915:C:T
Gene:: SKIV2L (Varview), NELFE (Varview), MIR1236 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.31958916C>T, NC_000006.11:g.31926693C>T, NG_032652.1:g.5113C>T, NT_113891.3:g.3436343C>T, NT_113891.2:g.3436449C>T, NT_167249.2:g.3260105C>T, NT_167249.1:g.3259403C>T, NT_167247.2:g.3300952C>T, NT_167247.1:g.3306537C>T, NT_167248.2:g.3214886C>T, NT_167248.1:g.3220482C>T, NT_167245.2:g.3206691C>T, NT_167245.1:g.3212276C>T, NM_002904.6:c.-33G>A, NM_002904.5:c.-33G>A, NM_006929.4:c.-277C>T, XM_047419355.1:c.-372G>A, XM_047419354.1:c.-60G>A, XM_006715205.4:c.-33G>A, XM_006715205.3:c.-33G>A, XM_006715205.2:c.-33G>A, XM_006715205.1:c.-33G>A, XM_047419356.1:c.-60G>A

Select item 147791540513.

rs1477915405 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31958866 (GRCh38)
6:31926643 (GRCh37)
Canonical SPDI:: NC_000006.12:31958865:G:A
Gene:: SKIV2L (Varview), NELFE (Varview), MIR1236 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000038/10 (TOPMED)
HGVS:: NC_000006.12:g.31958866G>A, NC_000006.11:g.31926643G>A, NG_032652.1:g.5063G>A, NT_113891.3:g.3436293G>A, NT_113891.2:g.3436399G>A, NT_167249.2:g.3260055G>A, NT_167249.1:g.3259353G>A, NT_167247.2:g.3300902G>A, NT_167247.1:g.3306487G>A, NT_167248.2:g.3214836G>A, NT_167248.1:g.3220432G>A, NT_167245.2:g.3206641G>A, NT_167245.1:g.3212226G>A, NM_006929.4:c.-327G>A, XM_047419355.1:c.-322C>T

Select item 147661846614.

rs1476618466 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:31958518 (GRCh38)
6:31926295 (GRCh37)
Canonical SPDI:: NC_000006.12:31958517:T:C
Gene:: SKIV2L (Varview), NELFE (Varview), MIR1236 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,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_000006.12:g.31958518T>C, NC_000006.11:g.31926295T>C, NG_032652.1:g.4715T>C, NT_113891.3:g.3435945T>C, NT_113891.2:g.3436051T>C, NT_167249.2:g.3259707T>C, NT_167249.1:g.3259005T>C, NT_167247.2:g.3300554T>C, NT_167247.1:g.3306139T>C, NT_167248.2:g.3214488T>C, NT_167248.1:g.3220084T>C, NT_167245.2:g.3206293T>C, NT_167245.1:g.3211878T>C

Select item 147629023915.

rs1476290239 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 6:31957985 (GRCh38)
6:31925763 (GRCh37)
Canonical SPDI:: NC_000006.12:31957985:TTTT:TTTTT
Gene:: SKIV2L (Varview), NELFE (Varview), MIR1236 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTT=0./0 (ALFA)
HGVS:: NC_000006.12:g.31957989dup, NC_000006.11:g.31925766dup, NG_032652.1:g.4186dup, NT_113891.3:g.3435416dup, NT_113891.2:g.3435522dup, NT_167249.2:g.3259178dup, NT_167249.1:g.3258476dup, NT_167247.2:g.3300025dup, NT_167247.1:g.3305610dup, NT_167248.2:g.3213959dup, NT_167248.1:g.3219555dup, NT_167245.2:g.3205764dup, NT_167245.1:g.3211349dup

Select item 147624062516.

rs1476240625 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 6:31957116 (GRCh38)
6:31924893 (GRCh37)
Canonical SPDI:: NC_000006.12:31957115:CCC:CC
Gene:: NELFE (Varview), MIR1236 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0.000071/1 (ALFA)
-=0.000019/5 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000006.12:g.31957118del, NC_000006.11:g.31924895del, NG_032652.1:g.3315del, NT_113891.3:g.3434545del, NT_113891.2:g.3434651del, NT_167249.2:g.3258307del, NT_167249.1:g.3257605del, NT_167247.2:g.3299154del, NT_167247.1:g.3304739del, NT_167248.2:g.3213088del, NT_167248.1:g.3218684del, NT_167245.2:g.3204893del, NT_167245.1:g.3210478del

Select item 147592315417.

rs1475923154 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:31956593 (GRCh38)
6:31924370 (GRCh37)
Canonical SPDI:: NC_000006.12:31956592:A:G
Gene:: NELFE (Varview), MIR1236 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.31956593A>G, NC_000006.11:g.31924370A>G, NG_032652.1:g.2790A>G, NT_113891.3:g.3434020A>G, NT_113891.2:g.3434126A>G, NT_167249.2:g.3257782A>G, NT_167249.1:g.3257080A>G, NT_167247.2:g.3298629A>G, NT_167247.1:g.3304214A>G, NT_167248.2:g.3212563A>G, NT_167248.1:g.3218159A>G, NT_167245.2:g.3204368A>G, NT_167245.1:g.3209953A>G

Select item 147549690818.

rs1475496908 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:31958333 (GRCh38)
6:31926110 (GRCh37)
Canonical SPDI:: NC_000006.12:31958332:C:G
Gene:: SKIV2L (Varview), NELFE (Varview), MIR1236 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31958333C>G, NC_000006.11:g.31926110C>G, NG_032652.1:g.4530C>G, NT_113891.3:g.3435760C>G, NT_113891.2:g.3435866C>G, NT_167249.2:g.3259522C>G, NT_167249.1:g.3258820C>G, NT_167247.2:g.3300369C>G, NT_167247.1:g.3305954C>G, NT_167248.2:g.3214303C>G, NT_167248.1:g.3219899C>G, NT_167245.2:g.3206108C>G, NT_167245.1:g.3211693C>G, XM_011514913.4:c.-116G>C, XM_011514913.3:c.-116G>C, XM_011514913.2:c.-116G>C, XM_011514913.1:c.-116G>C

Select item 147257548519.

rs1472575485 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:31958325 (GRCh38)
6:31926102 (GRCh37)
Canonical SPDI:: NC_000006.12:31958324:T:C
Gene:: SKIV2L (Varview), NELFE (Varview), MIR1236 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,intron_variant
HGVS:: NC_000006.12:g.31958325T>C, NC_000006.11:g.31926102T>C, NG_032652.1:g.4522T>C, NT_113891.3:g.3435752T>C, NT_113891.2:g.3435858T>C, NT_167249.2:g.3259514T>C, NT_167249.1:g.3258812T>C, NT_167247.2:g.3300361T>C, NT_167247.1:g.3305946T>C, NT_167248.2:g.3214295T>C, NT_167248.1:g.3219891T>C, NT_167245.2:g.3206100T>C, NT_167245.1:g.3211685T>C, XM_011514913.4:c.-108A>G, XM_011514913.3:c.-108A>G, XM_011514913.2:c.-108A>G, XM_011514913.1:c.-108A>G

Select item 147224887920.

rs1472248879 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:31957453 (GRCh38)
6:31925230 (GRCh37)
Canonical SPDI:: NC_000006.12:31957452:T:C
Gene:: SKIV2L (Varview), NELFE (Varview), MIR1236 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.31957453T>C, NC_000006.11:g.31925230T>C, NG_032652.1:g.3650T>C, NT_113891.3:g.3434880T>C, NT_113891.2:g.3434986T>C, NT_167249.2:g.3258642T>C, NT_167249.1:g.3257940T>C, NT_167247.2:g.3299489T>C, NT_167247.1:g.3305074T>C, NT_167248.2:g.3213423T>C, NT_167248.1:g.3219019T>C, NT_167245.2:g.3205228T>C, NT_167245.1:g.3210813T>C

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