SNP Links for Gene (Select 90332) - SNP

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Select item 14912791991.

rs1491279199 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:45225621 (GRCh38)
19:45728880 (GRCh37)
Canonical SPDI:: NC_000019.10:45225621::C
Gene:: EXOC3L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00067/8 (ALFA)
C=0.00085/73 (GnomAD)
HGVS:: NC_000019.10:g.45225621_45225622insC, NC_000019.9:g.45728879_45728880insC, NG_054912.2:g.24786_24787insG

Select item 14912716292.

rs1491271629 has merged into rs555190100 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,TTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:45225629 (GRCh38)
19:45728887 (GRCh37)
Canonical SPDI:: NC_000019.10:45225620:TTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000019.10:45225620:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:45225620:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:45225620:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:45225620:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:45225620:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:45225620:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:45225620:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:45225620:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:45225620:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: EXOC3L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.15136/758 (1000Genomes)
HGVS:: NC_000019.10:g.45225629_45225639del, NC_000019.10:g.45225633_45225639del, NC_000019.10:g.45225636_45225639del, NC_000019.10:g.45225637_45225639del, NC_000019.10:g.45225638_45225639del, NC_000019.10:g.45225639del, NC_000019.10:g.45225639dup, NC_000019.10:g.45225638_45225639dup, NC_000019.10:g.45225637_45225639dup, NC_000019.10:g.45225636_45225639dup, NC_000019.9:g.45728887_45728897del, NC_000019.9:g.45728891_45728897del, NC_000019.9:g.45728894_45728897del, NC_000019.9:g.45728895_45728897del, NC_000019.9:g.45728896_45728897del, NC_000019.9:g.45728897del, NC_000019.9:g.45728897dup, NC_000019.9:g.45728896_45728897dup, NC_000019.9:g.45728895_45728897dup, NC_000019.9:g.45728894_45728897dup, NG_054912.2:g.24777_24787del, NG_054912.2:g.24781_24787del, NG_054912.2:g.24784_24787del, NG_054912.2:g.24785_24787del, NG_054912.2:g.24786_24787del, NG_054912.2:g.24787del, NG_054912.2:g.24787dup, NG_054912.2:g.24786_24787dup, NG_054912.2:g.24785_24787dup, NG_054912.2:g.24784_24787dup

Select item 14911640633.

rs1491164063 has merged into rs530736333 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:45212607 (GRCh38)
19:45715865 (GRCh37)
Canonical SPDI:: NC_000019.10:45212598:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000019.10:45212598:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:45212598:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:45212598:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:45212598:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:45212598:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:45212598:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:45212598:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:45212598:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:45212598:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:45212598:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:45212598:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:45212598:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:45212598:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:45212598:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:45212598:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:45212598:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:45212598:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:45212598:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:45212598:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:45212598:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:45212598:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:45212598:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:45212598:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:45212598:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: EXOC3L2 (Varview), BLOC1S3 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.19269/965 (1000Genomes)
HGVS:: NC_000019.10:g.45212607_45212620del, NC_000019.10:g.45212608_45212620del, NC_000019.10:g.45212609_45212620del, NC_000019.10:g.45212610_45212620del, NC_000019.10:g.45212611_45212620del, NC_000019.10:g.45212612_45212620del, NC_000019.10:g.45212613_45212620del, NC_000019.10:g.45212614_45212620del, NC_000019.10:g.45212615_45212620del, NC_000019.10:g.45212616_45212620del, NC_000019.10:g.45212617_45212620del, NC_000019.10:g.45212618_45212620del, NC_000019.10:g.45212619_45212620del, NC_000019.10:g.45212620del, NC_000019.10:g.45212620dup, NC_000019.10:g.45212619_45212620dup, NC_000019.10:g.45212618_45212620dup, NC_000019.10:g.45212617_45212620dup, NC_000019.10:g.45212616_45212620dup, NC_000019.10:g.45212615_45212620dup, NC_000019.10:g.45212613_45212620dup, NC_000019.10:g.45212612_45212620dup, NC_000019.10:g.45212620_45212621insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.45212620_45212621insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.45212620_45212621insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.45715865_45715878del, NC_000019.9:g.45715866_45715878del, NC_000019.9:g.45715867_45715878del, NC_000019.9:g.45715868_45715878del, NC_000019.9:g.45715869_45715878del, NC_000019.9:g.45715870_45715878del, NC_000019.9:g.45715871_45715878del, NC_000019.9:g.45715872_45715878del, NC_000019.9:g.45715873_45715878del, NC_000019.9:g.45715874_45715878del, NC_000019.9:g.45715875_45715878del, NC_000019.9:g.45715876_45715878del, NC_000019.9:g.45715877_45715878del, NC_000019.9:g.45715878del, NC_000019.9:g.45715878dup, NC_000019.9:g.45715877_45715878dup, NC_000019.9:g.45715876_45715878dup, NC_000019.9:g.45715875_45715878dup, NC_000019.9:g.45715874_45715878dup, NC_000019.9:g.45715873_45715878dup, NC_000019.9:g.45715871_45715878dup, NC_000019.9:g.45715870_45715878dup, NC_000019.9:g.45715878_45715879insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.45715878_45715879insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.45715878_45715879insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054912.2:g.37796_37809del, NG_054912.2:g.37797_37809del, NG_054912.2:g.37798_37809del, NG_054912.2:g.37799_37809del, NG_054912.2:g.37800_37809del, NG_054912.2:g.37801_37809del, NG_054912.2:g.37802_37809del, NG_054912.2:g.37803_37809del, NG_054912.2:g.37804_37809del, NG_054912.2:g.37805_37809del, NG_054912.2:g.37806_37809del, NG_054912.2:g.37807_37809del, NG_054912.2:g.37808_37809del, NG_054912.2:g.37809del, NG_054912.2:g.37809dup, NG_054912.2:g.37808_37809dup, NG_054912.2:g.37807_37809dup, NG_054912.2:g.37806_37809dup, NG_054912.2:g.37805_37809dup, NG_054912.2:g.37804_37809dup, NG_054912.2:g.37802_37809dup, NG_054912.2:g.37801_37809dup, NG_054912.2:g.37809_37810insAAAAAAAAAAAAAAAAAAAAAAAA, NG_054912.2:g.37809_37810insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_054912.2:g.37809_37810insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_001382422.1:c.*457_*470del, NM_001382422.1:c.*458_*470del, NM_001382422.1:c.*459_*470del, NM_001382422.1:c.*460_*470del, NM_001382422.1:c.*461_*470del, NM_001382422.1:c.*462_*470del, NM_001382422.1:c.*463_*470del, NM_001382422.1:c.*464_*470del, NM_001382422.1:c.*465_*470del, NM_001382422.1:c.*466_*470del, NM_001382422.1:c.*467_*470del, NM_001382422.1:c.*468_*470del, NM_001382422.1:c.*469_*470del, NM_001382422.1:c.*470del, NM_001382422.1:c.*470dup, NM_001382422.1:c.*469_*470dup, NM_001382422.1:c.*468_*470dup, NM_001382422.1:c.*467_*470dup, NM_001382422.1:c.*466_*470dup, NM_001382422.1:c.*465_*470dup, NM_001382422.1:c.*463_*470dup, NM_001382422.1:c.*462_*470dup, NM_001382422.1:c.*470_*471insAAAAAAAAAAAAAAAAAAAAAAAA, NM_001382422.1:c.*470_*471insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_001382422.1:c.*470_*471insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_138568.4:c.*457_*470del, NM_138568.4:c.*458_*470del, NM_138568.4:c.*459_*470del, NM_138568.4:c.*460_*470del, NM_138568.4:c.*461_*470del, NM_138568.4:c.*462_*470del, NM_138568.4:c.*463_*470del, NM_138568.4:c.*464_*470del, NM_138568.4:c.*465_*470del, NM_138568.4:c.*466_*470del, NM_138568.4:c.*467_*470del, NM_138568.4:c.*468_*470del, NM_138568.4:c.*469_*470del, NM_138568.4:c.*470del, NM_138568.4:c.*470dup, NM_138568.4:c.*469_*470dup, NM_138568.4:c.*468_*470dup, NM_138568.4:c.*467_*470dup, NM_138568.4:c.*466_*470dup, NM_138568.4:c.*465_*470dup, NM_138568.4:c.*463_*470dup, NM_138568.4:c.*462_*470dup, NM_138568.4:c.*470_*471insAAAAAAAAAAAAAAAAAAAAAAAA, NM_138568.4:c.*470_*471insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_138568.4:c.*470_*471insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XR_007066812.1:n.2081_2094del, XR_007066812.1:n.2082_2094del, XR_007066812.1:n.2083_2094del, XR_007066812.1:n.2084_2094del, XR_007066812.1:n.2085_2094del, XR_007066812.1:n.2086_2094del, XR_007066812.1:n.2087_2094del, XR_007066812.1:n.2088_2094del, XR_007066812.1:n.2089_2094del, XR_007066812.1:n.2090_2094del, XR_007066812.1:n.2091_2094del, XR_007066812.1:n.2092_2094del, XR_007066812.1:n.2093_2094del, XR_007066812.1:n.2094del, XR_007066812.1:n.2094dup, XR_007066812.1:n.2093_2094dup, XR_007066812.1:n.2092_2094dup, XR_007066812.1:n.2091_2094dup, XR_007066812.1:n.2090_2094dup, XR_007066812.1:n.2089_2094dup, XR_007066812.1:n.2087_2094dup, XR_007066812.1:n.2086_2094dup, XR_007066812.1:n.2094_2095insTTTTTTTTTTTTTTTTTTTTTTTT, XR_007066812.1:n.2094_2095insTTTTTTTTTTTTTTTTTTTTTTTTTTT, XR_007066812.1:n.2094_2095insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14907805844.

rs1490780584 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:45213386 (GRCh38)
19:45716644 (GRCh37)
Canonical SPDI:: NC_000019.10:45213385:G:A
Gene:: EXOC3L2 (Varview), BLOC1S3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45213386G>A, NC_000019.9:g.45716644G>A, NG_054912.2:g.37022C>T

Select item 14907311255.

rs1490731125 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:45215627 (GRCh38)
19:45718885 (GRCh37)
Canonical SPDI:: NC_000019.10:45215626:C:G,NC_000019.10:45215626:C:T
Gene:: EXOC3L2 (Varview), BLOC1S3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.45215627C>G, NC_000019.10:g.45215627C>T, NC_000019.9:g.45718885C>G, NC_000019.9:g.45718885C>T, NG_054912.2:g.34781G>C, NG_054912.2:g.34781G>A

Select item 14904018266.

rs1490401826 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:45224131 (GRCh38)
19:45727389 (GRCh37)
Canonical SPDI:: NC_000019.10:45224130:C:T
Gene:: EXOC3L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.45224131C>T, NC_000019.9:g.45727389C>T, NG_054912.2:g.26277G>A

Select item 14902906637.

rs1490290663 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:45217544 (GRCh38)
19:45720802 (GRCh37)
Canonical SPDI:: NC_000019.10:45217543:C:T
Gene:: EXOC3L2 (Varview), BLOC1S3 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.45217544C>T, NC_000019.9:g.45720802C>T, NG_054912.2:g.32864G>A, NM_001382422.1:c.1982G>A, NM_138568.4:c.803G>A, NM_138568.3:c.803G>A, NP_001369351.1:p.Arg661Lys

Select item 14902568328.

rs1490256832 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 19:45219423 (GRCh38)
19:45722681 (GRCh37)
Canonical SPDI:: NC_000019.10:45219422:GT:
Gene:: EXOC3L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00134/6 (ALFA)
-=0.00113/19 (TOMMO)
HGVS:: NC_000019.10:g.45219423_45219424del, NC_000019.9:g.45722681_45722682del, NG_054912.2:g.30984_30985del

Select item 14902038339.

rs1490203833 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:45214285 (GRCh38)
19:45717543 (GRCh37)
Canonical SPDI:: NC_000019.10:45214284:T:C
Gene:: EXOC3L2 (Varview), BLOC1S3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.45214285T>C, NC_000019.9:g.45717543T>C, NG_054912.2:g.36123A>G

Select item 149014822410.

rs1490148224 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:45232631 (GRCh38)
19:45735889 (GRCh37)
Canonical SPDI:: NC_000019.10:45232630:G:A,NC_000019.10:45232630:G:C
Gene:: EXOC3L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.45232631G>A, NC_000019.10:g.45232631G>C, NC_000019.9:g.45735889G>A, NC_000019.9:g.45735889G>C, NG_054912.2:g.17777C>T, NG_054912.2:g.17777C>G

Select item 149002411111.

rs1490024111 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:45235379 (GRCh38)
19:45738637 (GRCh37)
Canonical SPDI:: NC_000019.10:45235378:C:A,NC_000019.10:45235378:C:T
Gene:: EXOC3L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000022/3 (GnomAD)
HGVS:: NC_000019.10:g.45235379C>A, NC_000019.10:g.45235379C>T, NC_000019.9:g.45738637C>A, NC_000019.9:g.45738637C>T, NG_054912.2:g.15029G>T, NG_054912.2:g.15029G>A

Select item 148997216812.

rs1489972168 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:45233963 (GRCh38)
19:45737221 (GRCh37)
Canonical SPDI:: NC_000019.10:45233962:C:T
Gene:: EXOC3L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.45233963C>T, NC_000019.9:g.45737221C>T, NG_054912.2:g.16445G>A

Select item 148985942113.

rs1489859421 has merged into rs1402066033 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>-,TGTG [Show Flanks]
Chromosome:: 19:45229173 (GRCh38)
19:45732431 (GRCh37)
Canonical SPDI:: NC_000019.10:45229162:TGTGTGTGTGTG:TGTGTGTGTG,NC_000019.10:45229162:TGTGTGTGTGTG:TGTGTGTGTGTGTG
Gene:: EXOC3L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000019.10:g.45229163TG[5], NC_000019.10:g.45229163TG[7], NC_000019.9:g.45732421TG[5], NC_000019.9:g.45732421TG[7], NG_054912.2:g.21234CA[5], NG_054912.2:g.21234CA[7]

Select item 148980073014.

rs1489800730 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:45218289 (GRCh38)
19:45721547 (GRCh37)
Canonical SPDI:: NC_000019.10:45218288:A:G
Gene:: EXOC3L2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.45218289A>G, NC_000019.9:g.45721547A>G, NG_054912.2:g.32119T>C, NM_001382422.1:c.1750T>C, NM_138568.4:c.571T>C, NM_138568.3:c.571T>C, NP_001369351.1:p.Trp584Arg

Select item 148978942315.

rs1489789423 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:45228219 (GRCh38)
19:45731477 (GRCh37)
Canonical SPDI:: NC_000019.10:45228218:C:T
Gene:: EXOC3L2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.45228219C>T, NC_000019.9:g.45731477C>T, NG_054912.2:g.22189G>A, NM_001382422.1:c.1317G>A, NM_138568.4:c.138G>A, NM_138568.3:c.138G>A

Select item 148969459516.

rs1489694595 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:45228018 (GRCh38)
19:45731276 (GRCh37)
Canonical SPDI:: NC_000019.10:45228017:C:A
Gene:: EXOC3L2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45228018C>A, NC_000019.9:g.45731276C>A, NG_054912.2:g.22390G>T, NM_001382422.1:c.1428G>T, NM_138568.4:c.249G>T, NM_138568.3:c.249G>T

Select item 148961906217.

rs1489619062 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGCTC>- [Show Flanks]
Chromosome:: 19:45231264 (GRCh38)
19:45734522 (GRCh37)
Canonical SPDI:: NC_000019.10:45231261:TCTGCTC:TC
Gene:: EXOC3L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.45231264_45231268del, NC_000019.9:g.45734522_45734526del, NG_054912.2:g.19142_19146del

Select item 148926862118.

rs1489268621 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 19:45228284 (GRCh38)
19:45731542 (GRCh37)
Canonical SPDI:: NC_000019.10:45228283:G:C,NC_000019.10:45228283:G:T
Gene:: EXOC3L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.45228284G>C, NC_000019.10:g.45228284G>T, NC_000019.9:g.45731542G>C, NC_000019.9:g.45731542G>T, NG_054912.2:g.22124C>G, NG_054912.2:g.22124C>A

Select item 148922882219.

rs1489228822 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:45227608 (GRCh38)
19:45730866 (GRCh37)
Canonical SPDI:: NC_000019.10:45227607:G:T
Gene:: EXOC3L2 (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_000019.10:g.45227608G>T, NC_000019.9:g.45730866G>T, NG_054912.2:g.22800C>A

Select item 148909814120.

rs1489098141 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAGTGATCCGCCCACCTTGGCCTC>- [Show Flanks]
Chromosome:: 19:45223577 (GRCh38)
19:45726835 (GRCh37)
Canonical SPDI:: NC_000019.10:45223572:CCTCAAGTGATCCGCCCACCTTGGCCTC:CCTC
Gene:: EXOC3L2 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000019.10:g.45223577_45223600del, NC_000019.9:g.45726835_45726858del, NG_054912.2:g.26812_26835del

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