SNP Links for Gene (Select 27351) - SNP

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Select item 14915703511.

rs1491570351 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:41606773 (GRCh38)
22:42002777 (GRCh37)
Canonical SPDI:: NC_000022.11:41606772:CA:
Gene:: DESI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000022.11:g.41606773_41606774del, NC_000022.10:g.42002777_42002778del

Select item 14914702722.

rs1491470272 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 22:41603431 (GRCh38)
22:41999436 (GRCh37)
Canonical SPDI:: NC_000022.11:41603431:A:AA
Gene:: DESI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.41603432dup, NC_000022.10:g.41999436dup

Select item 14914293913.

rs1491429391 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 22:41603432 (GRCh38)
22:41999436 (GRCh37)
Canonical SPDI:: NC_000022.11:41603430:TAT:T
Gene:: DESI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.41603432_41603433del, NC_000022.10:g.41999436_41999437del

Select item 14911574574.

rs1491157457 has merged into rs67262006 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 22:41606785 (GRCh38)
22:42002789 (GRCh37)
Canonical SPDI:: NC_000022.11:41606773:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:41606773:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:41606773:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:41606773:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:41606773:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:41606773:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:41606773:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:41606773:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:41606773:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:41606773:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:41606773:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41606773:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41606773:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41606773:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41606773:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41606773:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41606773:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41606773:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41606773:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41606773:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41606773:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41606773:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41606773:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41606773:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41606773:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41606773:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DESI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000022.11:g.41606785_41606801del, NC_000022.11:g.41606786_41606801del, NC_000022.11:g.41606787_41606801del, NC_000022.11:g.41606788_41606801del, NC_000022.11:g.41606789_41606801del, NC_000022.11:g.41606790_41606801del, NC_000022.11:g.41606791_41606801del, NC_000022.11:g.41606792_41606801del, NC_000022.11:g.41606793_41606801del, NC_000022.11:g.41606794_41606801del, NC_000022.11:g.41606795_41606801del, NC_000022.11:g.41606796_41606801del, NC_000022.11:g.41606797_41606801del, NC_000022.11:g.41606798_41606801del, NC_000022.11:g.41606799_41606801del, NC_000022.11:g.41606800_41606801del, NC_000022.11:g.41606801del, NC_000022.11:g.41606801dup, NC_000022.11:g.41606800_41606801dup, NC_000022.11:g.41606799_41606801dup, NC_000022.11:g.41606798_41606801dup, NC_000022.11:g.41606797_41606801dup, NC_000022.11:g.41606796_41606801dup, NC_000022.11:g.41606795_41606801dup, NC_000022.11:g.41606794_41606801dup, NC_000022.11:g.41606792_41606801dup, NC_000022.10:g.42002789_42002805del, NC_000022.10:g.42002790_42002805del, NC_000022.10:g.42002791_42002805del, NC_000022.10:g.42002792_42002805del, NC_000022.10:g.42002793_42002805del, NC_000022.10:g.42002794_42002805del, NC_000022.10:g.42002795_42002805del, NC_000022.10:g.42002796_42002805del, NC_000022.10:g.42002797_42002805del, NC_000022.10:g.42002798_42002805del, NC_000022.10:g.42002799_42002805del, NC_000022.10:g.42002800_42002805del, NC_000022.10:g.42002801_42002805del, NC_000022.10:g.42002802_42002805del, NC_000022.10:g.42002803_42002805del, NC_000022.10:g.42002804_42002805del, NC_000022.10:g.42002805del, NC_000022.10:g.42002805dup, NC_000022.10:g.42002804_42002805dup, NC_000022.10:g.42002803_42002805dup, NC_000022.10:g.42002802_42002805dup, NC_000022.10:g.42002801_42002805dup, NC_000022.10:g.42002800_42002805dup, NC_000022.10:g.42002799_42002805dup, NC_000022.10:g.42002798_42002805dup, NC_000022.10:g.42002796_42002805dup

Select item 14910426945.

rs1491042694 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 22:41606802 (GRCh38)
22:42002806 (GRCh37)
Canonical SPDI:: NC_000022.11:41606800:AGA:A
Gene:: DESI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.001163/19 (ALFA)
-=0.00142/176 (GnomAD)
-=0.003069/51 (TOMMO)
HGVS:: NC_000022.11:g.41606802_41606803del, NC_000022.10:g.42002806_42002807del

Select item 14910258106.

rs1491025810 [Homo sapiens]

Variant type:: INS
Alleles:: ->AT [Show Flanks]
Chromosome:: 22:41598340 (GRCh38)
22:41994345 (GRCh37)
Canonical SPDI:: NC_000022.11:41598340::AT
Gene:: DESI1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: AT=0./0 (ALFA)
AT=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.41598340_41598341insAT, NC_000022.10:g.41994344_41994345insAT, NM_015704.3:c.*2756_*2757insAT, NM_015704.2:c.*2756_*2757insAT, XM_047441335.1:c.*2756_*2757insAT

Select item 14909329917.

rs1490932991 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:41600500 (GRCh38)
22:41996504 (GRCh37)
Canonical SPDI:: NC_000022.11:41600499:T:C
Gene:: DESI1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.41600500T>C, NC_000022.10:g.41996504T>C, NM_015704.3:c.*597A>G, NM_015704.2:c.*597A>G, XM_047441335.1:c.*597A>G

Select item 14908471748.

rs1490847174 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:41619895 (GRCh38)
22:42015899 (GRCh37)
Canonical SPDI:: NC_000022.11:41619894:G:T
Gene:: XRCC6 (Varview), DESI1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.41619895G>T, NC_000022.10:g.42015899G>T

Select item 14907588359.

rs1490758835 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:41603371 (GRCh38)
22:41999375 (GRCh37)
Canonical SPDI:: NC_000022.11:41603370:A:G
Gene:: DESI1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.41603371A>G, NC_000022.10:g.41999375A>G, NM_015704.3:c.301T>C, NM_015704.2:c.301T>C, XM_047441335.1:c.229T>C, NP_056519.1:p.Tyr101His, XP_047297291.1:p.Tyr77His

Select item 149064473410.

rs1490644734 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:41618807 (GRCh38)
22:42014811 (GRCh37)
Canonical SPDI:: NC_000022.11:41618806:G:A
Gene:: DESI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.41618807G>A, NC_000022.10:g.42014811G>A

Select item 149063021711.

rs1490630217 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAG>-,AG [Show Flanks]
Chromosome:: 22:41621040 (GRCh38)
22:42017044 (GRCh37)
Canonical SPDI:: NC_000022.11:41621037:AGAGAG:AG,NC_000022.11:41621037:AGAGAG:AGAG
Gene:: XRCC6 (Varview), DESI1 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.41621038AG[1], NC_000022.11:g.41621038AG[2], NC_000022.10:g.42017042AG[1], NC_000022.10:g.42017042AG[2], NM_015704.3:c.-204CT[1], NM_015704.3:c.-204CT[2], NM_015704.2:c.-204CT[1], NM_015704.2:c.-204CT[2], XM_047441335.1:c.-418CT[1], XM_047441335.1:c.-418CT[2]

Select item 149049359812.

rs1490493598 has merged into rs132769 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA,AAA,AAAA [Show Flanks]
Chromosome:: 22:41618361 (GRCh38)
22:42014365 (GRCh37)
Canonical SPDI:: NC_000022.11:41618360:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:41618360:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:41618360:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:41618360:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: DESI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.1728/666 (ALSPAC)
A=0.1766/655 (TWINSUK)
A=0.2648/152 (NorthernSweden)
A=0.3/12 (GENOME_DK)
A=0.3656/1831 (1000Genomes)
HGVS:: NC_000022.11:g.41618374del, NC_000022.11:g.41618374dup, NC_000022.11:g.41618373_41618374dup, NC_000022.11:g.41618372_41618374dup, NC_000022.10:g.42014378del, NC_000022.10:g.42014378dup, NC_000022.10:g.42014377_42014378dup, NC_000022.10:g.42014376_42014378dup

Select item 149049196213.

rs1490491962 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 22:41604066 (GRCh38)
22:42000070 (GRCh37)
Canonical SPDI:: NC_000022.11:41604065:A:C
Gene:: DESI1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000022.11:g.41604066A>C, NC_000022.10:g.42000070A>C, NM_015704.3:c.268T>G, NM_015704.2:c.268T>G, XM_047441335.1:c.196T>G, NP_056519.1:p.Ser90Ala, XP_047297291.1:p.Ser66Ala

Select item 149044198814.

rs1490441988 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 22:41601610 (GRCh38)
22:41997614 (GRCh37)
Canonical SPDI:: NC_000022.11:41601609:AG:
Gene:: DESI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000026/7 (TOPMED)
HGVS:: NC_000022.11:g.41601610_41601611del, NC_000022.10:g.41997614_41997615del

Select item 149042569215.

rs1490425692 [Homo sapiens]

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

Select item 149035526816.

rs1490355268 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 22:41619359 (GRCh38)
22:42015363 (GRCh37)
Canonical SPDI:: NC_000022.11:41619358:A:C,NC_000022.11:41619358:A:G
Gene:: XRCC6 (Varview), DESI1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.41619359A>C, NC_000022.11:g.41619359A>G, NC_000022.10:g.42015363A>C, NC_000022.10:g.42015363A>G

Select item 149001200217.

rs1490012002 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGTGGGAAGGGGGCAGG>- [Show Flanks]
Chromosome:: 22:41617821 (GRCh38)
22:42013825 (GRCh37)
Canonical SPDI:: NC_000022.11:41617818:GGGAGTGGGAAGGGGGCAGG:GG
Gene:: DESI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.41617821_41617838del, NC_000022.10:g.42013825_42013842del

Select item 148999964918.

rs1489999649 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 22:41603559 (GRCh38)
22:41999563 (GRCh37)
Canonical SPDI:: NC_000022.11:41603558:T:G
Gene:: DESI1 (Varview)
Functional Consequence:: 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_000022.11:g.41603559T>G, NC_000022.10:g.41999563T>G

Select item 148994990619.

rs1489949906 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:41602599 (GRCh38)
22:41998603 (GRCh37)
Canonical SPDI:: NC_000022.11:41602598:G:T
Gene:: DESI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.41602599G>T, NC_000022.10:g.41998603G>T

Select item 148986072220.

rs1489860722 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:41607343 (GRCh38)
22:42003347 (GRCh37)
Canonical SPDI:: NC_000022.11:41607342:A:G
Gene:: DESI1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000022.11:g.41607343A>G, NC_000022.10:g.42003347A>G

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