SNP Links for Gene (Select 10492) - SNP

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Select item 14915173941.

rs1491517394 has merged into rs1554187697 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 6:85634580 (GRCh38)
6:86344299 (GRCh37)
Canonical SPDI:: NC_000006.12:85634580:G:GG
Gene:: SYNCRIP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000016/2 (GnomAD)
G=0.003506/13 (TWINSUK)
G=0.007006/27 (ALSPAC)
HGVS:: NC_000006.12:g.85634581dup, NC_000006.11:g.86344299dup, NG_031848.1:g.13745dup

Select item 14915120822.

rs1491512082 has merged into rs1554189866 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>-,ACAC [Show Flanks]
Chromosome:: 6:85640705 (GRCh38)
6:86350423 (GRCh37)
Canonical SPDI:: NC_000006.12:85640698:ACACACAC:ACACAC,NC_000006.12:85640698:ACACACAC:ACACACACAC
Gene:: SYNCRIP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACAC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.85640699AC[3], NC_000006.12:g.85640699AC[5], NC_000006.11:g.86350417AC[3], NC_000006.11:g.86350417AC[5], NG_031848.1:g.7620GT[3], NG_031848.1:g.7620GT[5]

Select item 14914413253.

rs1491441325 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTTTT [Show Flanks]
Chromosome:: 6:85633693 (GRCh38)
6:86343412 (GRCh37)
Canonical SPDI:: NC_000006.12:85633693:TTTTT:TTTTTTTTTT
Gene:: SYNCRIP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTTTTTTT=0.0004/2 (ALFA)
HGVS:: NC_000006.12:g.85633694_85633698dup, NC_000006.11:g.86343412_86343416dup, NG_031848.1:g.14628_14632dup

Select item 14914368564.

rs1491436856 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 6:85640699 (GRCh38)
6:86350418 (GRCh37)
Canonical SPDI:: NC_000006.12:85640699:C:CC
Gene:: SYNCRIP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.00003/8 (TOPMED)
HGVS:: NC_000006.12:g.85640700dup, NC_000006.11:g.86350418dup, NG_031848.1:g.7626dup

Select item 14913864015.

rs1491386401 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 6:85637895 (GRCh38)
6:86347613 (GRCh37)
Canonical SPDI:: NC_000006.12:85637892:ATAT:AT
Gene:: SYNCRIP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.85637893AT[1], NC_000006.11:g.86347611AT[1], NG_031848.1:g.10430AT[1]

Select item 14913823836.

rs1491382383 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 6:85637893 (GRCh38)
6:86347612 (GRCh37)
Canonical SPDI:: NC_000006.12:85637893:T:TT
Gene:: SYNCRIP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000389/7 (TOMMO)
HGVS:: NC_000006.12:g.85637894dup, NC_000006.11:g.86347612dup, NG_031848.1:g.10432dup

Select item 14913731337.

rs1491373133 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 6:85634247 (GRCh38)
6:86343966 (GRCh37)
Canonical SPDI:: NC_000006.12:85634247:TGT:TGTGT
Gene:: SYNCRIP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGT=0.000142/2 (ALFA)
TG=0.000014/2 (GnomAD)
TG=0.000023/6 (TOPMED)
HGVS:: NC_000006.12:g.85634249_85634250dup, NC_000006.11:g.86343967_86343968dup, NG_031848.1:g.14077_14078dup

Select item 14912513348.

rs1491251334 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 6:85633693 (GRCh38)
6:86343411 (GRCh37)
Canonical SPDI:: NC_000006.12:85633692:CT:
Gene:: SYNCRIP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.85633693_85633694del, NC_000006.11:g.86343411_86343412del, NG_031848.1:g.14632_14633del

Select item 14912499309.

rs1491249930 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 6:85628056 (GRCh38)
6:86337775 (GRCh37)
Canonical SPDI:: NC_000006.12:85628056:C:CC
Gene:: SYNCRIP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000006.12:g.85628057dup, NC_000006.11:g.86337775dup, NG_031848.1:g.20269dup

Select item 149116858110.

rs1491168581 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 6:85634247 (GRCh38)
6:86343965 (GRCh37)
Canonical SPDI:: NC_000006.12:85634246:CT:
Gene:: SYNCRIP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.85634247_85634248del, NC_000006.11:g.86343965_86343966del, NG_031848.1:g.14078_14079del

Select item 149111320611.

rs1491113206 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 6:85628057 (GRCh38)
6:86337775 (GRCh37)
Canonical SPDI:: NC_000006.12:85628055:TCT:T
Gene:: SYNCRIP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.85628057_85628058del, NC_000006.11:g.86337775_86337776del, NG_031848.1:g.20269_20270del

Select item 149111010212.

rs1491110102 has merged into rs781083306 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:85629524 (GRCh38)
6:86339242 (GRCh37)
Canonical SPDI:: NC_000006.12:85629516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000006.12:85629516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000006.12:85629516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:85629516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:85629516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:85629516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:85629516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:85629516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:85629516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:85629516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:85629516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:85629516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:85629516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:85629516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:85629516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:85629516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:85629516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:85629516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:85629516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:85629516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:85629516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:85629516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:85629516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:85629516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:85629516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:85629516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:85629516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:85629516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:85629516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:85629516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:85629516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:85629516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:85629516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:85629516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:85629516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:85629516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SYNCRIP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
-=0.4737/18 (GENOME_DK)
HGVS:: NC_000006.12:g.85629524_85629540del, NC_000006.12:g.85629526_85629540del, NC_000006.12:g.85629527_85629540del, NC_000006.12:g.85629528_85629540del, NC_000006.12:g.85629529_85629540del, NC_000006.12:g.85629530_85629540del, NC_000006.12:g.85629531_85629540del, NC_000006.12:g.85629533_85629540del, NC_000006.12:g.85629534_85629540del, NC_000006.12:g.85629535_85629540del, NC_000006.12:g.85629536_85629540del, NC_000006.12:g.85629537_85629540del, NC_000006.12:g.85629538_85629540del, NC_000006.12:g.85629539_85629540del, NC_000006.12:g.85629540del, NC_000006.12:g.85629540dup, NC_000006.12:g.85629539_85629540dup, NC_000006.12:g.85629538_85629540dup, NC_000006.12:g.85629537_85629540dup, NC_000006.12:g.85629536_85629540dup, NC_000006.12:g.85629535_85629540dup, NC_000006.12:g.85629534_85629540dup, NC_000006.12:g.85629533_85629540dup, NC_000006.12:g.85629532_85629540dup, NC_000006.12:g.85629531_85629540dup, NC_000006.12:g.85629530_85629540dup, NC_000006.12:g.85629529_85629540dup, NC_000006.12:g.85629528_85629540dup, NC_000006.12:g.85629527_85629540dup, NC_000006.12:g.85629526_85629540dup, NC_000006.12:g.85629525_85629540dup, NC_000006.12:g.85629524_85629540dup, NC_000006.12:g.85629523_85629540dup, NC_000006.12:g.85629522_85629540dup, NC_000006.12:g.85629521_85629540dup, NC_000006.12:g.85629519_85629540dup, NC_000006.11:g.86339242_86339258del, NC_000006.11:g.86339244_86339258del, NC_000006.11:g.86339245_86339258del, NC_000006.11:g.86339246_86339258del, NC_000006.11:g.86339247_86339258del, NC_000006.11:g.86339248_86339258del, NC_000006.11:g.86339249_86339258del, NC_000006.11:g.86339251_86339258del, NC_000006.11:g.86339252_86339258del, NC_000006.11:g.86339253_86339258del, NC_000006.11:g.86339254_86339258del, NC_000006.11:g.86339255_86339258del, NC_000006.11:g.86339256_86339258del, NC_000006.11:g.86339257_86339258del, NC_000006.11:g.86339258del, NC_000006.11:g.86339258dup, NC_000006.11:g.86339257_86339258dup, NC_000006.11:g.86339256_86339258dup, NC_000006.11:g.86339255_86339258dup, NC_000006.11:g.86339254_86339258dup, NC_000006.11:g.86339253_86339258dup, NC_000006.11:g.86339252_86339258dup, NC_000006.11:g.86339251_86339258dup, NC_000006.11:g.86339250_86339258dup, NC_000006.11:g.86339249_86339258dup, NC_000006.11:g.86339248_86339258dup, NC_000006.11:g.86339247_86339258dup, NC_000006.11:g.86339246_86339258dup, NC_000006.11:g.86339245_86339258dup, NC_000006.11:g.86339244_86339258dup, NC_000006.11:g.86339243_86339258dup, NC_000006.11:g.86339242_86339258dup, NC_000006.11:g.86339241_86339258dup, NC_000006.11:g.86339240_86339258dup, NC_000006.11:g.86339239_86339258dup, NC_000006.11:g.86339237_86339258dup, NG_031848.1:g.18793_18809del, NG_031848.1:g.18795_18809del, NG_031848.1:g.18796_18809del, NG_031848.1:g.18797_18809del, NG_031848.1:g.18798_18809del, NG_031848.1:g.18799_18809del, NG_031848.1:g.18800_18809del, NG_031848.1:g.18802_18809del, NG_031848.1:g.18803_18809del, NG_031848.1:g.18804_18809del, NG_031848.1:g.18805_18809del, NG_031848.1:g.18806_18809del, NG_031848.1:g.18807_18809del, NG_031848.1:g.18808_18809del, NG_031848.1:g.18809del, NG_031848.1:g.18809dup, NG_031848.1:g.18808_18809dup, NG_031848.1:g.18807_18809dup, NG_031848.1:g.18806_18809dup, NG_031848.1:g.18805_18809dup, NG_031848.1:g.18804_18809dup, NG_031848.1:g.18803_18809dup, NG_031848.1:g.18802_18809dup, NG_031848.1:g.18801_18809dup, NG_031848.1:g.18800_18809dup, NG_031848.1:g.18799_18809dup, NG_031848.1:g.18798_18809dup, NG_031848.1:g.18797_18809dup, NG_031848.1:g.18796_18809dup, NG_031848.1:g.18795_18809dup, NG_031848.1:g.18794_18809dup, NG_031848.1:g.18793_18809dup, NG_031848.1:g.18792_18809dup, NG_031848.1:g.18791_18809dup, NG_031848.1:g.18790_18809dup, NG_031848.1:g.18788_18809dup

Select item 149099363713.

rs1490993637 has merged into rs59858604 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
Chromosome:: 6:85619546 (GRCh38)
6:86329264 (GRCh37)
Canonical SPDI:: NC_000006.12:85619535:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:85619535:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:85619535:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:85619535:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:85619535:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: SYNCRIP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
A=0.025/15 (NorthernSweden)
HGVS:: NC_000006.12:g.85619546_85619548del, NC_000006.12:g.85619547_85619548del, NC_000006.12:g.85619548del, NC_000006.12:g.85619548dup, NC_000006.12:g.85619547_85619548dup, NC_000006.11:g.86329264_86329266del, NC_000006.11:g.86329265_86329266del, NC_000006.11:g.86329266del, NC_000006.11:g.86329266dup, NC_000006.11:g.86329265_86329266dup, NG_031848.1:g.28788_28790del, NG_031848.1:g.28789_28790del, NG_031848.1:g.28790del, NG_031848.1:g.28790dup, NG_031848.1:g.28789_28790dup

Select item 149095529114.

rs1490955291 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:85628064 (GRCh38)
6:86337782 (GRCh37)
Canonical SPDI:: NC_000006.12:85628063:T:C
Gene:: SYNCRIP (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)
HGVS:: NC_000006.12:g.85628064T>C, NC_000006.11:g.86337782T>C, NG_031848.1:g.20262A>G

Select item 149093012715.

rs1490930127 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:85629739 (GRCh38)
6:86339457 (GRCh37)
Canonical SPDI:: NC_000006.12:85629738:T:C
Gene:: SYNCRIP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.85629739T>C, NC_000006.11:g.86339457T>C, NG_031848.1:g.18587A>G

Select item 149073243416.

rs1490732434 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:85635828 (GRCh38)
6:86345546 (GRCh37)
Canonical SPDI:: NC_000006.12:85635827:T:C
Gene:: SYNCRIP (Varview)
Functional Consequence:: intron_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_000006.12:g.85635828T>C, NC_000006.11:g.86345546T>C, NG_031848.1:g.12498A>G

Select item 149066480217.

rs1490664802 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:85610865 (GRCh38)
6:86320583 (GRCh37)
Canonical SPDI:: NC_000006.12:85610864:T:C
Gene:: SYNCRIP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.85610865T>C, NC_000006.11:g.86320583T>C, NG_031848.1:g.37461A>G, NM_001159677.2:c.*2017A>G, NM_001159677.1:c.*2017A>G, NM_001159674.2:c.*2017A>G, NM_001159674.1:c.*2017A>G, NM_001159673.2:c.*2017A>G, NM_001159673.1:c.*2017A>G, NM_001253771.2:c.*2017A>G, NM_001253771.1:c.*2017A>G, NM_001159676.1:c.*2017A>G, XM_005248635.5:c.*2017A>G, XM_005248635.4:c.*2017A>G, XM_005248635.3:c.*2017A>G, XM_005248635.2:c.*2017A>G, XM_005248635.1:c.*2017A>G, XM_017010178.3:c.*2017A>G, XM_017010178.2:c.*2017A>G, XM_017010178.1:c.*2017A>G, XM_017010176.2:c.*2030A>G, XM_017010176.1:c.*2030A>G, XM_017010177.2:c.*2030A>G, XM_017010177.1:c.*2030A>G, XM_017010179.2:c.*2017A>G, XM_017010179.1:c.*2017A>G, XM_047418081.1:c.*2030A>G, XM_047418082.1:c.*2030A>G, XM_047418083.1:c.*2030A>G

Select item 149049552318.

rs1490495523 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:85629974 (GRCh38)
6:86339692 (GRCh37)
Canonical SPDI:: NC_000006.12:85629973:T:C
Gene:: SYNCRIP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000029/4 (GnomAD)
HGVS:: NC_000006.12:g.85629974T>C, NC_000006.11:g.86339692T>C, NG_031848.1:g.18352A>G

Select item 149043847919.

rs1490438479 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:85629038 (GRCh38)
6:86338756 (GRCh37)
Canonical SPDI:: NC_000006.12:85629037:T:C
Gene:: SYNCRIP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.85629038T>C, NC_000006.11:g.86338756T>C, NG_031848.1:g.19288A>G

Select item 149040154620.

rs1490401546 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 6:85617138 (GRCh38)
6:86326857 (GRCh37)
Canonical SPDI:: NC_000006.12:85617138:T:TT
Gene:: SYNCRIP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000006.12:g.85617139dup, NC_000006.11:g.86326857dup, NG_031848.1:g.31187dup

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