SNP Links for Gene (Select 51143) - SNP

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Select item 14915635901.

rs1491563590 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 3:32537937 (GRCh38)
3:32579429 (GRCh37)
Canonical SPDI:: NC_000003.12:32537936:AA:
Gene:: DYNC1LI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00008/1 (GnomAD)
HGVS:: NC_000003.12:g.32537937_32537938del, NC_000003.11:g.32579429_32579430del, NG_051046.1:g.37987_37988del

Select item 14915596222.

rs1491559622 [Homo sapiens]

Variant type:: INS
Alleles:: ->TAATTTATT,TAATTTATTAT,TAT,TATATATATATAATTTTATAT,TT,TTATAT [Show Flanks]
Chromosome:: 3:32537900 (GRCh38)
3:32579393 (GRCh37)
Canonical SPDI:: NC_000003.12:32537900::TAATTTATT,NC_000003.12:32537900::TAATTTATTAT,NC_000003.12:32537900::TAT,NC_000003.12:32537900::TATATATATATAATTTTATAT,NC_000003.12:32537900::TT,NC_000003.12:32537900::TTATAT
Gene:: DYNC1LI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAATTTATTAT=0./0 (ALFA)
HGVS:: NC_000003.12:g.32537900_32537901insTAATTTATT, NC_000003.12:g.32537900_32537901insTAATTTATTAT, NC_000003.12:g.32537900_32537901insTAT, NC_000003.12:g.32537900_32537901insTATATATATATAATTTTATAT, NC_000003.12:g.32537900_32537901insTT, NC_000003.12:g.32537900_32537901insTTATAT, NC_000003.11:g.32579392_32579393insTAATTTATT, NC_000003.11:g.32579392_32579393insTAATTTATTAT, NC_000003.11:g.32579392_32579393insTAT, NC_000003.11:g.32579392_32579393insTATATATATATAATTTTATAT, NC_000003.11:g.32579392_32579393insTT, NC_000003.11:g.32579392_32579393insTTATAT, NG_051046.1:g.38024_38025insAATAAATTA, NG_051046.1:g.38024_38025insATAATAAATTA, NG_051046.1:g.38024_38025insATA, NG_051046.1:g.38024_38025insATATAAAATTATATATATATA, NG_051046.1:g.38024_38025insAA, NG_051046.1:g.38024_38025insATATAA

Select item 14915362323.

rs1491536232 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T,TT [Show Flanks]
Chromosome:: 3:32538009 (GRCh38)
3:32579502 (GRCh37)
Canonical SPDI:: NC_000003.12:32538009:T:TT,NC_000003.12:32538009:T:TTT
Gene:: DYNC1LI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
HGVS:: NC_000003.12:g.32538010dup, NC_000003.12:g.32538010_32538011insTT, NC_000003.11:g.32579502dup, NC_000003.11:g.32579502_32579503insTT, NG_051046.1:g.37915dup, NG_051046.1:g.37915_37916insAA

Select item 14915200894.

rs1491520089 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TAATTTATT,TAATTTATTAT,TTAT [Show Flanks]
Chromosome:: 3:32538034 (GRCh38)
3:32579527 (GRCh37)
Canonical SPDI:: NC_000003.12:32538034::T,NC_000003.12:32538034::TAATTTATT,NC_000003.12:32538034::TAATTTATTAT,NC_000003.12:32538034::TTAT
Gene:: DYNC1LI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAATTTATT=0./0 (ALFA)
HGVS:: NC_000003.12:g.32538034_32538035insT, NC_000003.12:g.32538034_32538035insTAATTTATT, NC_000003.12:g.32538034_32538035insTAATTTATTAT, NC_000003.12:g.32538034_32538035insTTAT, NC_000003.11:g.32579526_32579527insT, NC_000003.11:g.32579526_32579527insTAATTTATT, NC_000003.11:g.32579526_32579527insTAATTTATTAT, NC_000003.11:g.32579526_32579527insTTAT, NG_051046.1:g.37890_37891insA, NG_051046.1:g.37890_37891insAATAAATTA, NG_051046.1:g.37890_37891insATAATAAATTA, NG_051046.1:g.37890_37891insATAA

Select item 14915099635.

rs1491509963 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 3:32538008 (GRCh38)
3:32579500 (GRCh37)
Canonical SPDI:: NC_000003.12:32538007:AA:
Gene:: DYNC1LI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00018/3 (TOMMO)
-=0.00238/87 (GnomAD)
HGVS:: NC_000003.12:g.32538008_32538009del, NC_000003.11:g.32579500_32579501del, NG_051046.1:g.37916_37917del

Select item 14914966206.

rs1491496620 [Homo sapiens]

Variant type:: INS
Alleles:: ->AT,ATT,ATTTATATATATATAT [Show Flanks]
Chromosome:: 3:32537938 (GRCh38)
3:32579431 (GRCh37)
Canonical SPDI:: NC_000003.12:32537938::AT,NC_000003.12:32537938::ATT,NC_000003.12:32537938::ATTTATATATATATAT
Gene:: DYNC1LI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AT=0.00008/1 (ALFA)
ATT=0.00011/2 (TOMMO)
HGVS:: NC_000003.12:g.32537938_32537939insAT, NC_000003.12:g.32537938_32537939insATT, NC_000003.12:g.32537938_32537939insATTTATATATATATAT, NC_000003.11:g.32579430_32579431insAT, NC_000003.11:g.32579430_32579431insATT, NC_000003.11:g.32579430_32579431insATTTATATATATATAT, NG_051046.1:g.37986_37987insAT, NG_051046.1:g.37986_37987insAAT, NG_051046.1:g.37986_37987insATATATATATATAAAT

Select item 14914913497.

rs1491491349 has merged into rs3836420 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 3:32526667 (GRCh38)
3:32568159 (GRCh37)
Canonical SPDI:: NC_000003.12:32526653:CACACACACACACACACACACACAC:CACACACACACAC,NC_000003.12:32526653:CACACACACACACACACACACACAC:CACACACACACACAC,NC_000003.12:32526653:CACACACACACACACACACACACAC:CACACACACACACACAC,NC_000003.12:32526653:CACACACACACACACACACACACAC:CACACACACACACACACAC,NC_000003.12:32526653:CACACACACACACACACACACACAC:CACACACACACACACACACAC,NC_000003.12:32526653:CACACACACACACACACACACACAC:CACACACACACACACACACACAC,NC_000003.12:32526653:CACACACACACACACACACACACAC:CACACACACACACACACACACACACAC,NC_000003.12:32526653:CACACACACACACACACACACACAC:CACACACACACACACACACACACACACAC,NC_000003.12:32526653:CACACACACACACACACACACACAC:CACACACACACACACACACACACACACACAC,NC_000003.12:32526653:CACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC,NC_000003.12:32526653:CACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC,NC_000003.12:32526653:CACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACAC
Gene:: DYNC1LI1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACAC=0./0 (ALFA)
CA=0.253/1267 (1000Genomes)
HGVS:: NC_000003.12:g.32526655AC[6], NC_000003.12:g.32526655AC[7], NC_000003.12:g.32526655AC[8], NC_000003.12:g.32526655AC[9], NC_000003.12:g.32526655AC[10], NC_000003.12:g.32526655AC[11], NC_000003.12:g.32526655AC[13], NC_000003.12:g.32526655AC[14], NC_000003.12:g.32526655AC[15], NC_000003.12:g.32526655AC[16], NC_000003.12:g.32526655AC[17], NC_000003.12:g.32526655AC[18], NC_000003.11:g.32568147AC[6], NC_000003.11:g.32568147AC[7], NC_000003.11:g.32568147AC[8], NC_000003.11:g.32568147AC[9], NC_000003.11:g.32568147AC[10], NC_000003.11:g.32568147AC[11], NC_000003.11:g.32568147AC[13], NC_000003.11:g.32568147AC[14], NC_000003.11:g.32568147AC[15], NC_000003.11:g.32568147AC[16], NC_000003.11:g.32568147AC[17], NC_000003.11:g.32568147AC[18], NG_051046.1:g.49248TG[6], NG_051046.1:g.49248TG[7], NG_051046.1:g.49248TG[8], NG_051046.1:g.49248TG[9], NG_051046.1:g.49248TG[10], NG_051046.1:g.49248TG[11], NG_051046.1:g.49248TG[13], NG_051046.1:g.49248TG[14], NG_051046.1:g.49248TG[15], NG_051046.1:g.49248TG[16], NG_051046.1:g.49248TG[17], NG_051046.1:g.49248TG[18], NM_016141.4:c.*122TG[6], NM_016141.4:c.*122TG[7], NM_016141.4:c.*122TG[8], NM_016141.4:c.*122TG[9], NM_016141.4:c.*122TG[10], NM_016141.4:c.*122TG[11], NM_016141.4:c.*122TG[13], NM_016141.4:c.*122TG[14], NM_016141.4:c.*122TG[15], NM_016141.4:c.*122TG[16], NM_016141.4:c.*122TG[17], NM_016141.4:c.*122TG[18], NM_016141.3:c.*122TG[6], NM_016141.3:c.*122TG[7], NM_016141.3:c.*122TG[8], NM_016141.3:c.*122TG[9], NM_016141.3:c.*122TG[10], NM_016141.3:c.*122TG[11], NM_016141.3:c.*122TG[13], NM_016141.3:c.*122TG[14], NM_016141.3:c.*122TG[15], NM_016141.3:c.*122TG[16], NM_016141.3:c.*122TG[17], NM_016141.3:c.*122TG[18], NM_001329135.2:c.*122TG[6], NM_001329135.2:c.*122TG[7], NM_001329135.2:c.*122TG[8], NM_001329135.2:c.*122TG[9], NM_001329135.2:c.*122TG[10], NM_001329135.2:c.*122TG[11], NM_001329135.2:c.*122TG[13], NM_001329135.2:c.*122TG[14], NM_001329135.2:c.*122TG[15], NM_001329135.2:c.*122TG[16], NM_001329135.2:c.*122TG[17], NM_001329135.2:c.*122TG[18], NM_001329135.1:c.*122TG[6], NM_001329135.1:c.*122TG[7], NM_001329135.1:c.*122TG[8], NM_001329135.1:c.*122TG[9], NM_001329135.1:c.*122TG[10], NM_001329135.1:c.*122TG[11], NM_001329135.1:c.*122TG[13], NM_001329135.1:c.*122TG[14], NM_001329135.1:c.*122TG[15], NM_001329135.1:c.*122TG[16], NM_001329135.1:c.*122TG[17], NM_001329135.1:c.*122TG[18], XM_047448246.1:c.*122TG[6], XM_047448246.1:c.*122TG[7], XM_047448246.1:c.*122TG[8], XM_047448246.1:c.*122TG[9], XM_047448246.1:c.*122TG[10], XM_047448246.1:c.*122TG[11], XM_047448246.1:c.*122TG[13], XM_047448246.1:c.*122TG[14], XM_047448246.1:c.*122TG[15], XM_047448246.1:c.*122TG[16], XM_047448246.1:c.*122TG[17], XM_047448246.1:c.*122TG[18]

Select item 14914296128.

rs1491429612 [Homo sapiens]

Variant type:: INS
Alleles:: ->CA [Show Flanks]
Chromosome:: 3:32526668 (GRCh38)
3:32568161 (GRCh37)
Canonical SPDI:: NC_000003.12:32526668::CA
Gene:: DYNC1LI1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
HGVS:: NC_000003.12:g.32526668_32526669insCA, NC_000003.11:g.32568160_32568161insCA, NG_051046.1:g.49256_49257insTG, NM_016141.4:c.*130_*131insTG, NM_016141.3:c.*130_*131insTG, NM_001329135.2:c.*130_*131insTG, NM_001329135.1:c.*130_*131insTG, XM_047448246.1:c.*130_*131insTG

Select item 14914128009.

rs1491412800 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 3:32537982 (GRCh38)
3:32579474 (GRCh37)
Canonical SPDI:: NC_000003.12:32537981:AA:
Gene:: DYNC1LI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00061/9 (TOMMO)
-=0.04179/1678 (GnomAD)
HGVS:: NC_000003.12:g.32537982_32537983del, NC_000003.11:g.32579474_32579475del, NG_051046.1:g.37942_37943del

Select item 149141065710.

rs1491410657 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->GT
Chromosome:: no mapping
Canonical SPDI:

Select item 149134252411.

rs1491342524 has merged into rs1553617874 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATATA>-,TATATA,TATATATA,TATATATATATA,TATATATATATATA [Show Flanks]
Chromosome:: 3:32537939 (GRCh38)
3:32579431 (GRCh37)
Canonical SPDI:: NC_000003.12:32537937:ATATATATATA:A,NC_000003.12:32537937:ATATATATATA:ATATATA,NC_000003.12:32537937:ATATATATATA:ATATATATA,NC_000003.12:32537937:ATATATATATA:ATATATATATATA,NC_000003.12:32537937:ATATATATATA:ATATATATATATATA
Gene:: DYNC1LI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATA=0./0 (ALFA)
HGVS:: NC_000003.12:g.32537939_32537948del, NC_000003.12:g.32537939TA[3], NC_000003.12:g.32537939TA[4], NC_000003.12:g.32537939TA[6], NC_000003.12:g.32537939TA[7], NC_000003.11:g.32579431_32579440del, NC_000003.11:g.32579431TA[3], NC_000003.11:g.32579431TA[4], NC_000003.11:g.32579431TA[6], NC_000003.11:g.32579431TA[7], NG_051046.1:g.37978_37987del, NG_051046.1:g.37978AT[3], NG_051046.1:g.37978AT[4], NG_051046.1:g.37978AT[6], NG_051046.1:g.37978AT[7]

Select item 149133919412.

rs1491339194 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TT [Show Flanks]
Chromosome:: 3:32537901 (GRCh38)
3:32579394 (GRCh37)
Canonical SPDI:: NC_000003.12:32537901:T:TTT
Gene:: DYNC1LI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
HGVS:: NC_000003.12:g.32537902_32537903insTT, NC_000003.11:g.32579394_32579395insTT, NG_051046.1:g.38023_38024insAA

Select item 149133341413.

rs1491333414 [Homo sapiens]

Variant type:: INS
Alleles:: ->ATT [Show Flanks]
Chromosome:: 3:32538045 (GRCh38)
3:32579538 (GRCh37)
Canonical SPDI:: NC_000003.12:32538045::ATT
Gene:: DYNC1LI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATT=0./0 (ALFA)
HGVS:: NC_000003.12:g.32538045_32538046insATT, NC_000003.11:g.32579537_32579538insATT, NG_051046.1:g.37879_37880insAAT

Select item 149132197114.

rs1491321971 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TAATTTATT,TAATTTATTAT,TT [Show Flanks]
Chromosome:: 3:32538008 (GRCh38)
3:32579501 (GRCh37)
Canonical SPDI:: NC_000003.12:32538008::T,NC_000003.12:32538008::TAATTTATT,NC_000003.12:32538008::TAATTTATTAT,NC_000003.12:32538008::TT
Gene:: DYNC1LI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00017/2 (ALFA)
HGVS:: NC_000003.12:g.32538008_32538009insT, NC_000003.12:g.32538008_32538009insTAATTTATT, NC_000003.12:g.32538008_32538009insTAATTTATTAT, NC_000003.12:g.32538008_32538009insTT, NC_000003.11:g.32579500_32579501insT, NC_000003.11:g.32579500_32579501insTAATTTATT, NC_000003.11:g.32579500_32579501insTAATTTATTAT, NC_000003.11:g.32579500_32579501insTT, NG_051046.1:g.37916_37917insA, NG_051046.1:g.37916_37917insAATAAATTA, NG_051046.1:g.37916_37917insATAATAAATTA, NG_051046.1:g.37916_37917insAA

Select item 149131106915.

rs1491311069 has merged into rs527775370 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA,TATATAATTTATATATATAATATATATATATATA,TATATATA [Show Flanks]
Chromosome:: 3:32537910 (GRCh38)
3:32579402 (GRCh37)
Canonical SPDI:: NC_000003.12:32537900:ATATATATATATA:ATATATATA,NC_000003.12:32537900:ATATATATATATA:ATATATATATA,NC_000003.12:32537900:ATATATATATATA:ATATATATATATATA,NC_000003.12:32537900:ATATATATATATA:ATATATATATATATAATTTATATATATAATATATATATATATA,NC_000003.12:32537900:ATATATATATATA:ATATATATATATATATA
Gene:: DYNC1LI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATA=0./0 (ALFA)
-=0.007/31 (1000Genomes)
HGVS:: NC_000003.12:g.32537902TA[4], NC_000003.12:g.32537902TA[5], NC_000003.12:g.32537902TA[7], NC_000003.12:g.32537901_32537913AT[7]AATTTATATATATAATATATATATATATA[1], NC_000003.12:g.32537902TA[8], NC_000003.11:g.32579394TA[4], NC_000003.11:g.32579394TA[5], NC_000003.11:g.32579394TA[7], NC_000003.11:g.32579393_32579405AT[7]AATTTATATATATAATATATATATATATA[1], NC_000003.11:g.32579394TA[8], NG_051046.1:g.38013AT[4], NG_051046.1:g.38013AT[5], NG_051046.1:g.38013AT[7], NG_051046.1:g.38012_38024TA[7]TTATATATATAAATTATATATATATATAT[1], NG_051046.1:g.38013AT[8]

Select item 149129715616.

rs1491297156 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 3:32537914 (GRCh38)
3:32579406 (GRCh37)
Canonical SPDI:: NC_000003.12:32537913:AT:
Gene:: DYNC1LI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000003.12:g.32537914_32537915del, NC_000003.11:g.32579406_32579407del, NG_051046.1:g.38010_38011del

Select item 149129698317.

rs1491296983 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 3:32538034 (GRCh38)
3:32579526 (GRCh37)
Canonical SPDI:: NC_000003.12:32538033:AA:
Gene:: DYNC1LI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00043/4 (GnomAD)
HGVS:: NC_000003.12:g.32538034_32538035del, NC_000003.11:g.32579526_32579527del, NG_051046.1:g.37890_37891del

Select item 149126662818.

rs1491266628 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 3:32530331 (GRCh38)
3:32571823 (GRCh37)
Canonical SPDI:: NC_000003.12:32530330:GA:
Gene:: DYNC1LI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.32530331_32530332del, NC_000003.11:g.32571823_32571824del, NG_051046.1:g.45593_45594del

Select item 149123860119.

rs1491238601 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 3:32537900 (GRCh38)
3:32579392 (GRCh37)
Canonical SPDI:: NC_000003.12:32537899:AA:
Gene:: DYNC1LI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000003.12:g.32537900_32537901del, NC_000003.11:g.32579392_32579393del, NG_051046.1:g.38024_38025del

Select item 149122406120.

rs1491224061 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 3:32538048 (GRCh38)
3:32579540 (GRCh37)
Canonical SPDI:: NC_000003.12:32538047:AT:
Gene:: DYNC1LI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000003.12:g.32538048_32538049del, NC_000003.11:g.32579540_32579541del, NG_051046.1:g.37876_37877del

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