SNP Links for Gene (Select 147646) - SNP

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Select item 14906936261.

rs1490693626 has merged into rs1034441872 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCACACAC>-,GCACACACGCACACAC [Show Flanks]
Chromosome:: 19:51388247 (GRCh38)
19:51891501 (GRCh37)
Canonical SPDI:: NC_000019.10:51388235:CACGCACACACGCACACAC:CACGCACACAC,NC_000019.10:51388235:CACGCACACACGCACACAC:CACGCACACACGCACACACGCACACAC
Gene:: LIM2 (Varview), C19orf84 (Varview)
Functional Consequence:: upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: CACGCACACAC=0.000055/1 (ALFA)
-=0.000044/6 (GnomAD)
HGVS:: NC_000019.10:g.51388239GCACACAC[1], NC_000019.10:g.51388239GCACACAC[3], NC_000019.9:g.51891493GCACACAC[1], NC_000019.9:g.51891493GCACACAC[3], NG_012924.1:g.4706TGTGCGTG[1], NG_012924.1:g.4706TGTGCGTG[3]

Select item 14902042282.

rs1490204228 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:51387835 (GRCh38)
19:51891089 (GRCh37)
Canonical SPDI:: NC_000019.10:51387834:G:A
Gene:: LIM2 (Varview), C19orf84 (Varview), LIM2-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000036/5 (GnomAD)
A=0.000045/12 (TOPMED)
HGVS:: NC_000019.10:g.51387835G>A, NC_000019.9:g.51891089G>A, NG_012924.1:g.5122C>T

Select item 14901241683.

rs1490124168 [Homo sapiens]

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

Select item 14881402754.

rs1488140275 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:51390564 (GRCh38)
19:51893818 (GRCh37)
Canonical SPDI:: NC_000019.10:51390563:T:C
Gene:: C19orf84 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000042/11 (TOPMED)
C=0.000043/6 (GnomAD)
HGVS:: NC_000019.10:g.51390564T>C, NC_000019.9:g.51893818T>C, NG_012924.1:g.2393A>G, NR_126530.2:n.28A>G, NR_126530.1:n.11A>G, NM_001193623.2:c.-52A>G, NM_001193623.1:c.-52A>G

Select item 14881102815.

rs1488110281 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:51388531 (GRCh38)
19:51891785 (GRCh37)
Canonical SPDI:: NC_000019.10:51388530:G:C
Gene:: LIM2 (Varview), C19orf84 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.51388531G>C, NC_000019.9:g.51891785G>C, NG_012924.1:g.4426C>G, NR_126530.2:n.1222C>G, NR_126530.1:n.1205C>G, NM_001193623.2:c.*453C>G, NM_001193623.1:c.*453C>G

Select item 14871578916.

rs1487157891 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:51392264 (GRCh38)
19:51895518 (GRCh37)
Canonical SPDI:: NC_000019.10:51392263:G:C
Gene:: C19orf84 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/1 (GnomAD)
HGVS:: NC_000019.10:g.51392264G>C, NC_000019.9:g.51895518G>C, NG_012924.1:g.693C>G

Select item 14866494157.

rs1486649415 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTCT>- [Show Flanks]
Chromosome:: 19:51391205 (GRCh38)
19:51894459 (GRCh37)
Canonical SPDI:: NC_000019.10:51391201:TCTGTCT:TCT
Gene:: C19orf84 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000035/1 (TOMMO)
-=0.000038/10 (TOPMED)
HGVS:: NC_000019.10:g.51391205_51391208del, NC_000019.9:g.51894459_51894462del, NG_012924.1:g.1752_1755del

Select item 14866391108.

rs1486639110 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:51392181 (GRCh38)
19:51895435 (GRCh37)
Canonical SPDI:: NC_000019.10:51392180:T:A
Gene:: C19orf84 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.51392181T>A, NC_000019.9:g.51895435T>A, NG_012924.1:g.776A>T

Select item 14861814309.

rs1486181430 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:51391947 (GRCh38)
19:51895201 (GRCh37)
Canonical SPDI:: NC_000019.10:51391946:A:T
Gene:: C19orf84 (Varview)
Functional Consequence:: 2KB_upstream_variant,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)
HGVS:: NC_000019.10:g.51391947A>T, NC_000019.9:g.51895201A>T, NG_012924.1:g.1010T>A

Select item 148612779010.

rs1486127790 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:51392258 (GRCh38)
19:51895512 (GRCh37)
Canonical SPDI:: NC_000019.10:51392257:A:C
Gene:: C19orf84 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/2 (GnomAD)
C=0.000685/2 (KOREAN)
HGVS:: NC_000019.10:g.51392258A>C, NC_000019.9:g.51895512A>C, NG_012924.1:g.699T>G

Select item 148611733611.

rs1486117336 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:51389288 (GRCh38)
19:51892542 (GRCh37)
Canonical SPDI:: NC_000019.10:51389287:G:A
Gene:: LIM2 (Varview), C19orf84 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000023/3 (GnomAD_exomes)
HGVS:: NC_000019.10:g.51389288G>A, NC_000019.9:g.51892542G>A, NG_012924.1:g.3669C>T, NR_126530.2:n.465C>T, NR_126530.1:n.448C>T, NM_001193623.2:c.257C>T, NM_001193623.1:c.257C>T, NP_001180552.1:p.Pro86Leu

Select item 148610925612.

rs1486109256 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:51390954 (GRCh38)
19:51894208 (GRCh37)
Canonical SPDI:: NC_000019.10:51390953:C:G
Gene:: C19orf84 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.00008/1 (ALFA)
HGVS:: NC_000019.10:g.51390954C>G, NC_000019.9:g.51894208C>G, NG_012924.1:g.2003G>C

Select item 148520186913.

rs1485201869 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:51391443 (GRCh38)
19:51894697 (GRCh37)
Canonical SPDI:: NC_000019.10:51391442:A:G
Gene:: C19orf84 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000019.10:g.51391443A>G, NC_000019.9:g.51894697A>G, NG_012924.1:g.1514T>C

Select item 148512976814.

rs1485129768 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 19:51390621 (GRCh38)
19:51893875 (GRCh37)
Canonical SPDI:: NC_000019.10:51390620:GGG:GG
Gene:: C19orf84 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.51390623del, NC_000019.9:g.51893877del, NG_012924.1:g.2336del

Select item 148505670515.

rs1485056705 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:51391849 (GRCh38)
19:51895103 (GRCh37)
Canonical SPDI:: NC_000019.10:51391848:C:T
Gene:: C19orf84 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000019.10:g.51391849C>T, NC_000019.9:g.51895103C>T, NG_012924.1:g.1108G>A

Select item 148421715016.

rs1484217150 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:51391044 (GRCh38)
19:51894298 (GRCh37)
Canonical SPDI:: NC_000019.10:51391043:C:T
Gene:: C19orf84 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.51391044C>T, NC_000019.9:g.51894298C>T, NG_012924.1:g.1913G>A

Select item 148414799117.

rs1484147991 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 19:51390249 (GRCh38)
19:51893503 (GRCh37)
Canonical SPDI:: NC_000019.10:51390248:TT:T
Gene:: C19orf84 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000019.10:g.51390250del, NC_000019.9:g.51893504del, NG_012924.1:g.2708del

Select item 148377112418.

rs1483771124 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:51389291 (GRCh38)
19:51892545 (GRCh37)
Canonical SPDI:: NC_000019.10:51389290:C:T
Gene:: LIM2 (Varview), C19orf84 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.51389291C>T, NC_000019.9:g.51892545C>T, NG_012924.1:g.3666G>A, NR_126530.2:n.462G>A, NR_126530.1:n.445G>A, NM_001193623.2:c.254G>A, NM_001193623.1:c.254G>A, NP_001180552.1:p.Cys85Tyr

Select item 148358120919.

rs1483581209 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 19:51390237 (GRCh38)
19:51893491 (GRCh37)
Canonical SPDI:: NC_000019.10:51390236:AAA:AA
Gene:: C19orf84 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.51390239del, NC_000019.9:g.51893493del, NG_012924.1:g.2720del

Select item 148306521920.

rs1483065219 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:51388828 (GRCh38)
19:51892082 (GRCh37)
Canonical SPDI:: NC_000019.10:51388827:G:A
Gene:: LIM2 (Varview), C19orf84 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00003/8 (TOPMED)
HGVS:: NC_000019.10:g.51388828G>A, NC_000019.9:g.51892082G>A, NG_012924.1:g.4129C>T, NR_126530.2:n.925C>T, NR_126530.1:n.908C>T, NM_001193623.2:c.*156C>T, NM_001193623.1:c.*156C>T

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