SNP Links for Gene (Select 5981) - SNP

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Select item 14915303131.

rs1491530313 has merged into rs59032726 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACA>-,CA,CACA,CACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA [Show Flanks]
Chromosome:: 4:39353041 (GRCh38)
4:39354661 (GRCh37)
Canonical SPDI:: NC_000004.12:39353027:ACACACACACACACACACACA:ACACACACACACA,NC_000004.12:39353027:ACACACACACACACACACACA:ACACACACACACACA,NC_000004.12:39353027:ACACACACACACACACACACA:ACACACACACACACACA,NC_000004.12:39353027:ACACACACACACACACACACA:ACACACACACACACACACA,NC_000004.12:39353027:ACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000004.12:39353027:ACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000004.12:39353027:ACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000004.12:39353027:ACACACACACACACACACACA:ACACACACACACACACACACACACACACA
Gene:: RFC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACA=0./0 (ALFA)
AC=0.0567/43 (1000Genomes)
HGVS:: NC_000004.12:g.39353029CA[6], NC_000004.12:g.39353029CA[7], NC_000004.12:g.39353029CA[8], NC_000004.12:g.39353029CA[9], NC_000004.12:g.39353029CA[11], NC_000004.12:g.39353029CA[12], NC_000004.12:g.39353029CA[13], NC_000004.12:g.39353029CA[14], NC_000004.11:g.39354649CA[6], NC_000004.11:g.39354649CA[7], NC_000004.11:g.39354649CA[8], NC_000004.11:g.39354649CA[9], NC_000004.11:g.39354649CA[11], NC_000004.11:g.39354649CA[12], NC_000004.11:g.39354649CA[13], NC_000004.11:g.39354649CA[14]

Select item 14915188322.

rs1491518832 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAAAG [Show Flanks]
Chromosome:: 4:39348435 (GRCh38)
4:39350056 (GRCh37)
Canonical SPDI:: NC_000004.12:39348435:AAAG:AAAGGAAAG
Gene:: RFC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAGGAAAG=0.00008/1 (ALFA)
AAAGG=0.00007/6 (GnomAD)
HGVS:: NC_000004.12:g.39348439_39348440insGAAAG, NC_000004.11:g.39350059_39350060insGAAAG

Select item 14915128003.

rs1491512800 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 4:39301088 (GRCh38)
4:39302708 (GRCh37)
Canonical SPDI:: NC_000004.12:39301087:GA:
Gene:: RFC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.008683/103 (ALFA)
-=0.008588/43 (1000Genomes)
-=0.012279/1248 (GnomAD)
HGVS:: NC_000004.12:g.39301088_39301089del, NC_000004.11:g.39302708_39302709del

Select item 14914615024.

rs1491461502 has merged into rs34342477 [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,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:39354759 (GRCh38)
4:39356379 (GRCh37)
Canonical SPDI:: NC_000004.12:39354749:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000004.12:39354749:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:39354749:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:39354749:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:39354749:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:39354749:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:39354749:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:39354749:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:39354749:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:39354749:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:39354749:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:39354749:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:39354749:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:39354749:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:39354749:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:39354749:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:39354749:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:39354749:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:39354749:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:39354749:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:39354749:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:39354749:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:39354749:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:39354749:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RFC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
AAAAAA=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.39354759_39354773del, NC_000004.12:g.39354760_39354773del, NC_000004.12:g.39354761_39354773del, NC_000004.12:g.39354762_39354773del, NC_000004.12:g.39354763_39354773del, NC_000004.12:g.39354764_39354773del, NC_000004.12:g.39354765_39354773del, NC_000004.12:g.39354766_39354773del, NC_000004.12:g.39354767_39354773del, NC_000004.12:g.39354768_39354773del, NC_000004.12:g.39354769_39354773del, NC_000004.12:g.39354770_39354773del, NC_000004.12:g.39354771_39354773del, NC_000004.12:g.39354772_39354773del, NC_000004.12:g.39354773del, NC_000004.12:g.39354773dup, NC_000004.12:g.39354772_39354773dup, NC_000004.12:g.39354771_39354773dup, NC_000004.12:g.39354770_39354773dup, NC_000004.12:g.39354769_39354773dup, NC_000004.12:g.39354768_39354773dup, NC_000004.12:g.39354767_39354773dup, NC_000004.12:g.39354766_39354773dup, NC_000004.12:g.39354755_39354773dup, NC_000004.11:g.39356379_39356393del, NC_000004.11:g.39356380_39356393del, NC_000004.11:g.39356381_39356393del, NC_000004.11:g.39356382_39356393del, NC_000004.11:g.39356383_39356393del, NC_000004.11:g.39356384_39356393del, NC_000004.11:g.39356385_39356393del, NC_000004.11:g.39356386_39356393del, NC_000004.11:g.39356387_39356393del, NC_000004.11:g.39356388_39356393del, NC_000004.11:g.39356389_39356393del, NC_000004.11:g.39356390_39356393del, NC_000004.11:g.39356391_39356393del, NC_000004.11:g.39356392_39356393del, NC_000004.11:g.39356393del, NC_000004.11:g.39356393dup, NC_000004.11:g.39356392_39356393dup, NC_000004.11:g.39356391_39356393dup, NC_000004.11:g.39356390_39356393dup, NC_000004.11:g.39356389_39356393dup, NC_000004.11:g.39356388_39356393dup, NC_000004.11:g.39356387_39356393dup, NC_000004.11:g.39356386_39356393dup, NC_000004.11:g.39356375_39356393dup

Select item 14914242965.

rs1491424296 has merged into rs1164416980 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAGAAAAA,AAAAGAAAAAGAAAAA [Show Flanks]
Chromosome:: 4:39348436 (GRCh38)
4:39350056 (GRCh37)
Canonical SPDI:: NC_000004.12:39348434:AAAA:A,NC_000004.12:39348434:AAAA:AA,NC_000004.12:39348434:AAAA:AAA,NC_000004.12:39348434:AAAA:AAAAA,NC_000004.12:39348434:AAAA:AAAAAA,NC_000004.12:39348434:AAAA:AAAAAGAAAAA,NC_000004.12:39348434:AAAA:AAAAAGAAAAAGAAAAA
Gene:: RFC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000004.12:g.39348436_39348438del, NC_000004.12:g.39348437_39348438del, NC_000004.12:g.39348438del, NC_000004.12:g.39348438dup, NC_000004.12:g.39348437_39348438dup, NC_000004.12:g.39348435_39348438A[5]GAAAAA[1], NC_000004.12:g.39348435_39348438AAAAAG[2]A[5], NC_000004.11:g.39350056_39350058del, NC_000004.11:g.39350057_39350058del, NC_000004.11:g.39350058del, NC_000004.11:g.39350058dup, NC_000004.11:g.39350057_39350058dup, NC_000004.11:g.39350055_39350058A[5]GAAAAA[1], NC_000004.11:g.39350055_39350058AAAAAG[2]A[5]

Select item 14913962476.

rs1491396247 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:39320349 (GRCh38)
4:39321969 (GRCh37)
Canonical SPDI:: NC_000004.12:39320348:CA:
Gene:: RFC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00388/46 (ALFA)
-=0.00177/50 (TOMMO)
HGVS:: NC_000004.12:g.39320349_39320350del, NC_000004.11:g.39321969_39321970del

Select item 14913775157.

rs1491377515 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 4:39348429 (GRCh38)
4:39350049 (GRCh37)
Canonical SPDI:: NC_000004.12:39348427:AGA:A
Gene:: RFC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00042/5 (ALFA)
-=0.00086/30 (GnomAD)
-=0.00795/132 (TOMMO)
HGVS:: NC_000004.12:g.39348429_39348430del, NC_000004.11:g.39350049_39350050del

Select item 14913376078.

rs1491337607 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 4:39288078 (GRCh38)
4:39289699 (GRCh37)
Canonical SPDI:: NC_000004.12:39288078:A:AA
Gene:: RFC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.39288079dup, NC_000004.11:g.39289699dup, NM_002913.5:c.*682dup, NM_002913.4:c.*682dup, NM_001204747.2:c.*682dup, NM_001204747.1:c.*682dup, NM_001363496.2:c.*682dup, NM_001363496.1:c.*682dup, NM_001363495.2:c.*682dup, NM_001363495.1:c.*682dup, XM_011513731.2:c.*682dup, XM_011513731.1:c.*682dup, XM_047416054.1:c.*682dup

Select item 14913359959.

rs1491335995 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAAGGAAAGGAAAGGAAAGGAAAG,AAAGGAAAGGAAAGGAAAGGAAAGGAAAG,AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG,AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG,AAGGAAAGGAAAGGAAAG,AGGAAAGGAAAG,AGGAAAGGAAAGGAAAGGAAAG,C [Show Flanks]
Chromosome:: 4:39348428 (GRCh38)
4:39350049 (GRCh37)
Canonical SPDI:: NC_000004.12:39348428::AAAGGAAAGGAAAGGAAAGGAAAG,NC_000004.12:39348428::AAAGGAAAGGAAAGGAAAGGAAAGGAAAG,NC_000004.12:39348428::AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG,NC_000004.12:39348428::AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG,NC_000004.12:39348428::AAGGAAAGGAAAGGAAAG,NC_000004.12:39348428::AGGAAAGGAAAG,NC_000004.12:39348428::AGGAAAGGAAAGGAAAGGAAAG,NC_000004.12:39348428::C
Gene:: RFC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00008/1 (ALFA)
HGVS:: NC_000004.12:g.39348428_39348429insAAAGGAAAGGAAAGGAAAGGAAAG, NC_000004.12:g.39348428_39348429insAAAGGAAAGGAAAGGAAAGGAAAGGAAAG, NC_000004.12:g.39348428_39348429insAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG, NC_000004.12:g.39348428_39348429insAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG, NC_000004.12:g.39348428_39348429insAAGGAAAGGAAAGGAAAG, NC_000004.12:g.39348428_39348429insAGGAAAGGAAAG, NC_000004.12:g.39348428_39348429insAGGAAAGGAAAGGAAAGGAAAG, NC_000004.12:g.39348428_39348429insC, NC_000004.11:g.39350048_39350049insAAAGGAAAGGAAAGGAAAGGAAAG, NC_000004.11:g.39350048_39350049insAAAGGAAAGGAAAGGAAAGGAAAGGAAAG, NC_000004.11:g.39350048_39350049insAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG, NC_000004.11:g.39350048_39350049insAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG, NC_000004.11:g.39350048_39350049insAAGGAAAGGAAAGGAAAG, NC_000004.11:g.39350048_39350049insAGGAAAGGAAAG, NC_000004.11:g.39350048_39350049insAGGAAAGGAAAGGAAAGGAAAG, NC_000004.11:g.39350048_39350049insC

Select item 149132830310.

rs1491328303 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 4:39364266 (GRCh38)
4:39365886 (GRCh37)
Canonical SPDI:: NC_000004.12:39364265:GA:
Gene:: RFC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00007/2 (GnomAD)
HGVS:: NC_000004.12:g.39364266_39364267del, NC_000004.11:g.39365886_39365887del

Select item 149132449011.

rs1491324490 has merged into rs57378978 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC,CCC,CCCC [Show Flanks]
Chromosome:: 4:39365316 (GRCh38)
4:39366936 (GRCh37)
Canonical SPDI:: NC_000004.12:39365315:CCCCCCCCC:CCCCCCCC,NC_000004.12:39365315:CCCCCCCCC:CCCCCCCCCC,NC_000004.12:39365315:CCCCCCCCC:CCCCCCCCCCC,NC_000004.12:39365315:CCCCCCCCC:CCCCCCCCCCCC
Gene:: RFC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCC=0.0348/195 (ALFA)
-=0.4524/1301 (1000Genomes)
HGVS:: NC_000004.12:g.39365324del, NC_000004.12:g.39365324dup, NC_000004.12:g.39365323_39365324dup, NC_000004.12:g.39365322_39365324dup, NC_000004.11:g.39366944del, NC_000004.11:g.39366944dup, NC_000004.11:g.39366943_39366944dup, NC_000004.11:g.39366942_39366944dup

Select item 149130552912.

rs1491305529 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AA [Show Flanks]
Chromosome:: 4:39353047 (GRCh38)
4:39354668 (GRCh37)
Canonical SPDI:: NC_000004.12:39353047:AAA:AAAAA
Gene:: RFC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
AA=0.000007/1 (GnomAD)
AA=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.39353049_39353050dup, NC_000004.11:g.39354669_39354670dup

Select item 149128624713.

rs1491286247 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAAAATAAAA [Show Flanks]
Chromosome:: 4:39360519 (GRCh38)
4:39362140 (GRCh37)
Canonical SPDI:: NC_000004.12:39360519:AAAATAAAA:AAAATAAAAAAAAATAAAA
Gene:: RFC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAATAAAAAAAAATAAAA=0./0 (ALFA)
AAAATAAAAA=0.00004/1 (GnomAD)
HGVS:: NC_000004.12:g.39360520_39360528A[4]TAAAAAAAAATAAAA[1], NC_000004.11:g.39362140_39362148A[4]TAAAAAAAAATAAAA[1]

Select item 149125451614.

rs1491254516 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 4:39348434 (GRCh38)
4:39350054 (GRCh37)
Canonical SPDI:: NC_000004.12:39348432:AGA:A
Gene:: RFC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000004.12:g.39348434_39348435del, NC_000004.11:g.39350054_39350055del

Select item 149124628615.

rs1491246286 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:39353397 (GRCh38)
4:39355017 (GRCh37)
Canonical SPDI:: NC_000004.12:39353396:CA:
Gene:: RFC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000004.12:g.39353397_39353398del, NC_000004.11:g.39355017_39355018del

Select item 149122861416.

rs1491228614 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 4:39360519 (GRCh38)
4:39362139 (GRCh37)
Canonical SPDI:: NC_000004.12:39360518:TA:
Gene:: RFC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.39360519_39360520del, NC_000004.11:g.39362139_39362140del

Select item 149120555617.

rs1491205556 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G,GAAAGG,GAAAGGAAAGGAAAGGAAAGG,GAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG,GG [Show Flanks]
Chromosome:: 4:39348433 (GRCh38)
4:39350054 (GRCh37)
Canonical SPDI:: NC_000004.12:39348433:G:GG,NC_000004.12:39348433:G:GGAAAGG,NC_000004.12:39348433:G:GGAAAGGAAAGGAAAGGAAAGG,NC_000004.12:39348433:G:GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG,NC_000004.12:39348433:G:GGG
Gene:: RFC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.00009/2 (TOMMO)
HGVS:: NC_000004.12:g.39348434dup, NC_000004.12:g.39348434_39348435insGAAAGG, NC_000004.12:g.39348434GGAAA[4]GG[1], NC_000004.12:g.39348434GGAAA[10]GG[1], NC_000004.12:g.39348434_39348435insGG, NC_000004.11:g.39350054dup, NC_000004.11:g.39350054_39350055insGAAAGG, NC_000004.11:g.39350054GGAAA[4]GG[1], NC_000004.11:g.39350054GGAAA[10]GG[1], NC_000004.11:g.39350054_39350055insGG

Select item 149119162218.

rs1491191622 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 4:39288079 (GRCh38)
4:39289699 (GRCh37)
Canonical SPDI:: NC_000004.12:39288077:TAT:T
Gene:: RFC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
-=0./0 (GnomAD)
-=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.39288079_39288080del, NC_000004.11:g.39289699_39289700del, NM_002913.5:c.*682_*683del, NM_002913.4:c.*682_*683del, NM_001204747.2:c.*682_*683del, NM_001204747.1:c.*682_*683del, NM_001363496.2:c.*682_*683del, NM_001363496.1:c.*682_*683del, NM_001363495.2:c.*682_*683del, NM_001363495.1:c.*682_*683del, XM_011513731.2:c.*682_*683del, XM_011513731.1:c.*682_*683del, XM_047416054.1:c.*682_*683del

Select item 149112494719.

rs1491124947 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:39354749 (GRCh38)
4:39356369 (GRCh37)
Canonical SPDI:: NC_000004.12:39354748:CA:
Gene:: RFC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000004.12:g.39354749_39354750del, NC_000004.11:g.39356369_39356370del

Select item 149105050020.

rs1491050500 has merged into rs34831204 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:39364277 (GRCh38)
4:39365897 (GRCh37)
Canonical SPDI:: NC_000004.12:39364266:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:39364266:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:39364266:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:39364266:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:39364266:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:39364266:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:39364266:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:39364266:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:39364266:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: RFC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
A=0.4008/2007 (1000Genomes)
HGVS:: NC_000004.12:g.39364277_39364280del, NC_000004.12:g.39364278_39364280del, NC_000004.12:g.39364279_39364280del, NC_000004.12:g.39364280del, NC_000004.12:g.39364280dup, NC_000004.12:g.39364279_39364280dup, NC_000004.12:g.39364278_39364280dup, NC_000004.12:g.39364277_39364280dup, NC_000004.12:g.39364272_39364280dup, NC_000004.11:g.39365897_39365900del, NC_000004.11:g.39365898_39365900del, NC_000004.11:g.39365899_39365900del, NC_000004.11:g.39365900del, NC_000004.11:g.39365900dup, NC_000004.11:g.39365899_39365900dup, NC_000004.11:g.39365898_39365900dup, NC_000004.11:g.39365897_39365900dup, NC_000004.11:g.39365892_39365900dup

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