SNP Links for Gene (Select 390916) - SNP

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Select item 14914366551.

rs1491436655 has merged into rs34357522 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:32710432 (GRCh38)
19:33201338 (GRCh37)
Canonical SPDI:: NC_000019.10:32710420:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:32710420:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:32710420:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:32710420:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:32710420:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:32710420:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:32710420:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:32710420:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:32710420:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:32710420:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:32710420:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:32710420:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:32710420:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:32710420:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:32710420:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:32710420:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:32710420:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NUDT19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.32710432_32710438del, NC_000019.10:g.32710435_32710438del, NC_000019.10:g.32710436_32710438del, NC_000019.10:g.32710437_32710438del, NC_000019.10:g.32710438del, NC_000019.10:g.32710438dup, NC_000019.10:g.32710437_32710438dup, NC_000019.10:g.32710435_32710438dup, NC_000019.10:g.32710434_32710438dup, NC_000019.10:g.32710433_32710438dup, NC_000019.10:g.32710432_32710438dup, NC_000019.10:g.32710431_32710438dup, NC_000019.10:g.32710430_32710438dup, NC_000019.10:g.32710429_32710438dup, NC_000019.10:g.32710427_32710438dup, NC_000019.10:g.32710426_32710438dup, NC_000019.10:g.32710438_32710439insAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.33201338_33201344del, NC_000019.9:g.33201341_33201344del, NC_000019.9:g.33201342_33201344del, NC_000019.9:g.33201343_33201344del, NC_000019.9:g.33201344del, NC_000019.9:g.33201344dup, NC_000019.9:g.33201343_33201344dup, NC_000019.9:g.33201341_33201344dup, NC_000019.9:g.33201340_33201344dup, NC_000019.9:g.33201339_33201344dup, NC_000019.9:g.33201338_33201344dup, NC_000019.9:g.33201337_33201344dup, NC_000019.9:g.33201336_33201344dup, NC_000019.9:g.33201335_33201344dup, NC_000019.9:g.33201333_33201344dup, NC_000019.9:g.33201332_33201344dup, NC_000019.9:g.33201344_33201345insAAAAAAAAAAAAAAAAAAAA

Select item 14912324702.

rs1491232470 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>- [Show Flanks]
Chromosome:: 19:32697371 (GRCh38)
19:33188277 (GRCh37)
Canonical SPDI:: NC_000019.10:32697369:CCC:C
Gene:: NUDT19 (Varview), LOC124904690 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000157/22 (GnomAD)
HGVS:: NC_000019.10:g.32697371_32697372del, NC_000019.9:g.33188277_33188278del

Select item 14911356263.

rs1491135626 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTGAGGGTCA [Show Flanks]
Chromosome:: 19:32697370 (GRCh38)
19:33188277 (GRCh37)
Canonical SPDI:: NC_000019.10:32697370::TTGAGGGTCA
Gene:: NUDT19 (Varview), LOC124904690 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTGAGGGTCA=0.00017/2 (ALFA)
HGVS:: NC_000019.10:g.32697370_32697371insTTGAGGGTCA, NC_000019.9:g.33188276_33188277insTTGAGGGTCA

Select item 14908682864.

rs1490868286 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:32699521 (GRCh38)
19:33190427 (GRCh37)
Canonical SPDI:: NC_000019.10:32699520:G:A
Gene:: NUDT19 (Varview), LOC124904690 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.32699521G>A, NC_000019.9:g.33190427G>A

Select item 14908431435.

rs1490843143 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:32697949 (GRCh38)
19:33188855 (GRCh37)
Canonical SPDI:: NC_000019.10:32697948:T:C
Gene:: NUDT19 (Varview), LOC124904690 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000019.10:g.32697949T>C, NC_000019.9:g.33188855T>C

Select item 14904755656.

rs1490475565 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 19:32689737 (GRCh38)
19:33180643 (GRCh37)
Canonical SPDI:: NC_000019.10:32689733:TCTCT:TCT
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.32689735CT[1], NC_000019.9:g.33180641CT[1]

Select item 14903945477.

rs1490394547 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:32712456 (GRCh38)
19:33203362 (GRCh37)
Canonical SPDI:: NC_000019.10:32712455:A:G
Gene:: NUDT19 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0.000084/1 (ALFA)
G=0.000009/1 (GnomAD)
HGVS:: NC_000019.10:g.32712456A>G, NC_000019.9:g.33203362A>G, NM_001105570.2:c.*499A>G, NM_001105570.1:c.*499A>G

Select item 14903509428.

rs1490350942 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:32701621 (GRCh38)
19:33192527 (GRCh37)
Canonical SPDI:: NC_000019.10:32701620:C:G
Gene:: NUDT19 (Varview), LOC124904690 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.32701621C>G, NC_000019.9:g.33192527C>G

Select item 14903149389.

rs1490314938 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:32709008 (GRCh38)
19:33199914 (GRCh37)
Canonical SPDI:: NC_000019.10:32709007:G:A
Gene:: NUDT19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.32709008G>A, NC_000019.9:g.33199914G>A

Select item 149028066610.

rs1490280666 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:32708019 (GRCh38)
19:33198925 (GRCh37)
Canonical SPDI:: NC_000019.10:32708018:G:A
Gene:: NUDT19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.32708019G>A, NC_000019.9:g.33198925G>A

Select item 149008721111.

rs1490087211 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:32694137 (GRCh38)
19:33185043 (GRCh37)
Canonical SPDI:: NC_000019.10:32694136:C:A
Gene:: NUDT19 (Varview), LOC124904690 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.32694137C>A, NC_000019.9:g.33185043C>A

Select item 148986967912.

rs1489869679 has merged into rs3042685 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:32701211 (GRCh38)
19:33192117 (GRCh37)
Canonical SPDI:: NC_000019.10:32701199:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:32701199:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:32701199:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:32701199:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:32701199:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:32701199:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:32701199:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:32701199:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:32701199:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:32701199:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:32701199:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:32701199:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:32701199:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:32701199:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:32701199:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:32701199:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:32701199:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:32701199:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:32701199:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:32701199:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:32701199:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:32701199:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:32701199:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:32701199:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:32701199:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:32701199:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:32701199:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:32701199:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:32701199:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NUDT19 (Varview), LOC124904690 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.32701211_32701223del, NC_000019.10:g.32701212_32701223del, NC_000019.10:g.32701213_32701223del, NC_000019.10:g.32701214_32701223del, NC_000019.10:g.32701215_32701223del, NC_000019.10:g.32701216_32701223del, NC_000019.10:g.32701217_32701223del, NC_000019.10:g.32701218_32701223del, NC_000019.10:g.32701219_32701223del, NC_000019.10:g.32701220_32701223del, NC_000019.10:g.32701221_32701223del, NC_000019.10:g.32701222_32701223del, NC_000019.10:g.32701223del, NC_000019.10:g.32701223dup, NC_000019.10:g.32701222_32701223dup, NC_000019.10:g.32701221_32701223dup, NC_000019.10:g.32701220_32701223dup, NC_000019.10:g.32701219_32701223dup, NC_000019.10:g.32701218_32701223dup, NC_000019.10:g.32701217_32701223dup, NC_000019.10:g.32701216_32701223dup, NC_000019.10:g.32701215_32701223dup, NC_000019.10:g.32701214_32701223dup, NC_000019.10:g.32701200_32701223T[34]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.32701208_32701223dup, NC_000019.10:g.32701207_32701223dup, NC_000019.10:g.32701223_32701224insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.32701223_32701224insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.32701223_32701224insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.33192117_33192129del, NC_000019.9:g.33192118_33192129del, NC_000019.9:g.33192119_33192129del, NC_000019.9:g.33192120_33192129del, NC_000019.9:g.33192121_33192129del, NC_000019.9:g.33192122_33192129del, NC_000019.9:g.33192123_33192129del, NC_000019.9:g.33192124_33192129del, NC_000019.9:g.33192125_33192129del, NC_000019.9:g.33192126_33192129del, NC_000019.9:g.33192127_33192129del, NC_000019.9:g.33192128_33192129del, NC_000019.9:g.33192129del, NC_000019.9:g.33192129dup, NC_000019.9:g.33192128_33192129dup, NC_000019.9:g.33192127_33192129dup, NC_000019.9:g.33192126_33192129dup, NC_000019.9:g.33192125_33192129dup, NC_000019.9:g.33192124_33192129dup, NC_000019.9:g.33192123_33192129dup, NC_000019.9:g.33192122_33192129dup, NC_000019.9:g.33192121_33192129dup, NC_000019.9:g.33192120_33192129dup, NC_000019.9:g.33192106_33192129T[34]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.33192114_33192129dup, NC_000019.9:g.33192113_33192129dup, NC_000019.9:g.33192129_33192130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.33192129_33192130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.33192129_33192130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 148965147213.

rs1489651472 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:32700065 (GRCh38)
19:33190971 (GRCh37)
Canonical SPDI:: NC_000019.10:32700064:A:G
Gene:: NUDT19 (Varview), LOC124904690 (Varview)
Functional Consequence:: non_coding_transcript_variant,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_000019.10:g.32700065A>G, NC_000019.9:g.33190971A>G, XR_007067226.1:n.83T>C

Select item 148964611314.

rs1489646113 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:32694120 (GRCh38)
19:33185026 (GRCh37)
Canonical SPDI:: NC_000019.10:32694119:G:A
Gene:: NUDT19 (Varview), LOC124904690 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000019.10:g.32694120G>A, NC_000019.9:g.33185026G>A

Select item 148907791615.

rs1489077916 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:32711858 (GRCh38)
19:33202764 (GRCh37)
Canonical SPDI:: NC_000019.10:32711857:G:A,NC_000019.10:32711857:G:C
Gene:: NUDT19 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.32711858G>A, NC_000019.10:g.32711858G>C, NC_000019.9:g.33202764G>A, NC_000019.9:g.33202764G>C, NM_001105570.2:c.1029G>A, NM_001105570.2:c.1029G>C, NM_001105570.1:c.1029G>A, NM_001105570.1:c.1029G>C

Select item 148902932016.

rs1489029320 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:32702229 (GRCh38)
19:33193135 (GRCh37)
Canonical SPDI:: NC_000019.10:32702228:A:G
Gene:: NUDT19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.32702229A>G, NC_000019.9:g.33193135A>G

Select item 148900497717.

rs1489004977 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:32701901 (GRCh38)
19:33192807 (GRCh37)
Canonical SPDI:: NC_000019.10:32701900:C:A
Gene:: NUDT19 (Varview), LOC124904690 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.32701901C>A, NC_000019.9:g.33192807C>A

Select item 148898016418.

rs1488980164 has merged into rs60766132 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:32703660 (GRCh38)
19:33194566 (GRCh37)
Canonical SPDI:: NC_000019.10:32703648:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:32703648:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:32703648:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:32703648:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:32703648:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:32703648:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:32703648:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:32703648:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:32703648:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:32703648:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:32703648:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:32703648:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:32703648:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:32703648:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:32703648:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:32703648:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:32703648:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:32703648:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:32703648:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:32703648:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:32703648:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:32703648:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:32703648:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:32703648:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:32703648:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:32703648:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:32703648:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:32703648:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:32703648:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:32703648:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:32703648:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:32703648:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:32703648:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:32703648:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:32703648:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:32703648:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:32703648:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NUDT19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
TTT=0.275/11 (GENOME_DK)
HGVS:: NC_000019.10:g.32703660_32703680del, NC_000019.10:g.32703661_32703680del, NC_000019.10:g.32703662_32703680del, NC_000019.10:g.32703663_32703680del, NC_000019.10:g.32703664_32703680del, NC_000019.10:g.32703665_32703680del, NC_000019.10:g.32703666_32703680del, NC_000019.10:g.32703667_32703680del, NC_000019.10:g.32703668_32703680del, NC_000019.10:g.32703669_32703680del, NC_000019.10:g.32703670_32703680del, NC_000019.10:g.32703671_32703680del, NC_000019.10:g.32703672_32703680del, NC_000019.10:g.32703673_32703680del, NC_000019.10:g.32703674_32703680del, NC_000019.10:g.32703675_32703680del, NC_000019.10:g.32703676_32703680del, NC_000019.10:g.32703677_32703680del, NC_000019.10:g.32703678_32703680del, NC_000019.10:g.32703679_32703680del, NC_000019.10:g.32703680del, NC_000019.10:g.32703680dup, NC_000019.10:g.32703679_32703680dup, NC_000019.10:g.32703678_32703680dup, NC_000019.10:g.32703677_32703680dup, NC_000019.10:g.32703676_32703680dup, NC_000019.10:g.32703675_32703680dup, NC_000019.10:g.32703674_32703680dup, NC_000019.10:g.32703673_32703680dup, NC_000019.10:g.32703672_32703680dup, NC_000019.10:g.32703671_32703680dup, NC_000019.10:g.32703670_32703680dup, NC_000019.10:g.32703669_32703680dup, NC_000019.10:g.32703668_32703680dup, NC_000019.10:g.32703667_32703680dup, NC_000019.10:g.32703666_32703680dup, NC_000019.10:g.32703657_32703680dup, NC_000019.9:g.33194566_33194586del, NC_000019.9:g.33194567_33194586del, NC_000019.9:g.33194568_33194586del, NC_000019.9:g.33194569_33194586del, NC_000019.9:g.33194570_33194586del, NC_000019.9:g.33194571_33194586del, NC_000019.9:g.33194572_33194586del, NC_000019.9:g.33194573_33194586del, NC_000019.9:g.33194574_33194586del, NC_000019.9:g.33194575_33194586del, NC_000019.9:g.33194576_33194586del, NC_000019.9:g.33194577_33194586del, NC_000019.9:g.33194578_33194586del, NC_000019.9:g.33194579_33194586del, NC_000019.9:g.33194580_33194586del, NC_000019.9:g.33194581_33194586del, NC_000019.9:g.33194582_33194586del, NC_000019.9:g.33194583_33194586del, NC_000019.9:g.33194584_33194586del, NC_000019.9:g.33194585_33194586del, NC_000019.9:g.33194586del, NC_000019.9:g.33194586dup, NC_000019.9:g.33194585_33194586dup, NC_000019.9:g.33194584_33194586dup, NC_000019.9:g.33194583_33194586dup, NC_000019.9:g.33194582_33194586dup, NC_000019.9:g.33194581_33194586dup, NC_000019.9:g.33194580_33194586dup, NC_000019.9:g.33194579_33194586dup, NC_000019.9:g.33194578_33194586dup, NC_000019.9:g.33194577_33194586dup, NC_000019.9:g.33194576_33194586dup, NC_000019.9:g.33194575_33194586dup, NC_000019.9:g.33194574_33194586dup, NC_000019.9:g.33194573_33194586dup, NC_000019.9:g.33194572_33194586dup, NC_000019.9:g.33194563_33194586dup

Select item 148897688919.

rs1488976889 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:32700079 (GRCh38)
19:33190985 (GRCh37)
Canonical SPDI:: NC_000019.10:32700078:G:T
Gene:: NUDT19 (Varview), LOC124904690 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00005/7 (GnomAD)
T=0.000053/14 (TOPMED)
HGVS:: NC_000019.10:g.32700079G>T, NC_000019.9:g.33190985G>T, XR_007067226.1:n.69C>A

Select item 148893757220.

rs1488937572 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:32694602 (GRCh38)
19:33185509 (GRCh37)
Canonical SPDI:: NC_000019.10:32694602::C
Gene:: NUDT19 (Varview), LOC124904690 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
C=0.001946/33 (TOMMO)
HGVS:: NC_000019.10:g.32694602_32694603insC, NC_000019.9:g.33185508_33185509insC

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