SNP Links for Gene (Select 401024) - SNP

Links from Gene

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14915809911.

rs1491580991 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 2:185816942 (GRCh38)
2:186681669 (GRCh37)
Canonical SPDI:: NC_000002.12:185816941:AA:
Gene:: FSIP2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000075/10 (GnomAD)
HGVS:: NC_000002.12:g.185816942_185816943del, NC_000002.11:g.186681669_186681670del, NG_051365.1:g.83048_83049del

Select item 14915655302.

rs1491565530 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGTGTG [Show Flanks]
Chromosome:: 2:185751462 (GRCh38)
2:186616190 (GRCh37)
Canonical SPDI:: NC_000002.12:185751462:GTGTG:GTGTGCGTGTG
Gene:: FSIP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGCGTGTG=0./0 (ALFA)
GTGTGC=0.00043/1 (GnomAD)
HGVS:: NC_000002.12:g.185751463_185751467GT[2]GCGTGTG[1], NC_000002.11:g.186616190_186616194GT[2]GCGTGTG[1], NG_051365.1:g.17569_17573GT[2]GCGTGTG[1]

Select item 14915134573.

rs1491513457 [Homo sapiens]

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

Select item 14914735164.

rs1491473516 has merged into rs10567134 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 2:185777406 (GRCh38)
2:186642133 (GRCh37)
Canonical SPDI:: NC_000002.12:185777393:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:185777393:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:185777393:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:185777393:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:185777393:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:185777393:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:185777393:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:185777393:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:185777393:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: FSIP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.185777406_185777411del, NC_000002.12:g.185777407_185777411del, NC_000002.12:g.185777408_185777411del, NC_000002.12:g.185777409_185777411del, NC_000002.12:g.185777410_185777411del, NC_000002.12:g.185777411del, NC_000002.12:g.185777411dup, NC_000002.12:g.185777410_185777411dup, NC_000002.12:g.185777407_185777411dup, NC_000002.11:g.186642133_186642138del, NC_000002.11:g.186642134_186642138del, NC_000002.11:g.186642135_186642138del, NC_000002.11:g.186642136_186642138del, NC_000002.11:g.186642137_186642138del, NC_000002.11:g.186642138del, NC_000002.11:g.186642138dup, NC_000002.11:g.186642137_186642138dup, NC_000002.11:g.186642134_186642138dup, NG_051365.1:g.43512_43517del, NG_051365.1:g.43513_43517del, NG_051365.1:g.43514_43517del, NG_051365.1:g.43515_43517del, NG_051365.1:g.43516_43517del, NG_051365.1:g.43517del, NG_051365.1:g.43517dup, NG_051365.1:g.43516_43517dup, NG_051365.1:g.43513_43517dup

Select item 14912291015.

rs1491229101 has merged into rs199815434 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT [Show Flanks]
Chromosome:: 2:185781854 (GRCh38)
2:186646581 (GRCh37)
Canonical SPDI:: NC_000002.12:185781843:TTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:185781843:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:185781843:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:185781843:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:185781843:TTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: FSIP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.4693/275 (NorthernSweden)
T=0.475/19 (GENOME_DK)
-=0.4779/1772 (TWINSUK)
-=0.4857/1872 (ALSPAC)
T=0.4956/2482 (1000Genomes)
HGVS:: NC_000002.12:g.185781854_185781855del, NC_000002.12:g.185781855del, NC_000002.12:g.185781855dup, NC_000002.12:g.185781854_185781855dup, NC_000002.12:g.185781853_185781855dup, NC_000002.11:g.186646581_186646582del, NC_000002.11:g.186646582del, NC_000002.11:g.186646582dup, NC_000002.11:g.186646581_186646582dup, NC_000002.11:g.186646580_186646582dup, NG_051365.1:g.47960_47961del, NG_051365.1:g.47961del, NG_051365.1:g.47961dup, NG_051365.1:g.47960_47961dup, NG_051365.1:g.47959_47961dup

Select item 14912194046.

rs1491219404 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:185816942 (GRCh38)
2:186681670 (GRCh37)
Canonical SPDI:: NC_000002.12:185816942::G
Gene:: FSIP2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.185816942_185816943insG, NC_000002.11:g.186681669_186681670insG, NG_051365.1:g.83048_83049insG

Select item 14911125237.

rs1491112523 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 2:185777393 (GRCh38)
2:186642120 (GRCh37)
Canonical SPDI:: NC_000002.12:185777392:GT:
Gene:: FSIP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000002.12:g.185777393_185777394del, NC_000002.11:g.186642120_186642121del, NG_051365.1:g.43499_43500del

Select item 14910905408.

rs1491090540 has merged into rs56395901 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTGTGTGTGTGTGTGTG>-,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 2:185751476 (GRCh38)
2:186616203 (GRCh37)
Canonical SPDI:: NC_000002.12:185751461:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTG,NC_000002.12:185751461:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:185751461:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:185751461:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:185751461:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:185751461:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:185751461:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:185751461:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:185751461:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:185751461:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:185751461:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:185751461:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:185751461:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:185751461:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:185751461:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:185751461:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:185751461:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:185751461:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:185751461:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:185751461:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: FSIP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTG=0./0 (ALFA)
HGVS:: NC_000002.12:g.185751462TG[7], NC_000002.12:g.185751462TG[11], NC_000002.12:g.185751462TG[12], NC_000002.12:g.185751462TG[13], NC_000002.12:g.185751462TG[14], NC_000002.12:g.185751462TG[15], NC_000002.12:g.185751462TG[16], NC_000002.12:g.185751462TG[17], NC_000002.12:g.185751462TG[18], NC_000002.12:g.185751462TG[20], NC_000002.12:g.185751462TG[21], NC_000002.12:g.185751462TG[22], NC_000002.12:g.185751462TG[23], NC_000002.12:g.185751462TG[24], NC_000002.12:g.185751462TG[25], NC_000002.12:g.185751462TG[26], NC_000002.12:g.185751462TG[27], NC_000002.12:g.185751462TG[28], NC_000002.12:g.185751462TG[29], NC_000002.12:g.185751462TG[37], NC_000002.11:g.186616189TG[7], NC_000002.11:g.186616189TG[11], NC_000002.11:g.186616189TG[12], NC_000002.11:g.186616189TG[13], NC_000002.11:g.186616189TG[14], NC_000002.11:g.186616189TG[15], NC_000002.11:g.186616189TG[16], NC_000002.11:g.186616189TG[17], NC_000002.11:g.186616189TG[18], NC_000002.11:g.186616189TG[20], NC_000002.11:g.186616189TG[21], NC_000002.11:g.186616189TG[22], NC_000002.11:g.186616189TG[23], NC_000002.11:g.186616189TG[24], NC_000002.11:g.186616189TG[25], NC_000002.11:g.186616189TG[26], NC_000002.11:g.186616189TG[27], NC_000002.11:g.186616189TG[28], NC_000002.11:g.186616189TG[29], NC_000002.11:g.186616189TG[37], NG_051365.1:g.17568TG[7], NG_051365.1:g.17568TG[11], NG_051365.1:g.17568TG[12], NG_051365.1:g.17568TG[13], NG_051365.1:g.17568TG[14], NG_051365.1:g.17568TG[15], NG_051365.1:g.17568TG[16], NG_051365.1:g.17568TG[17], NG_051365.1:g.17568TG[18], NG_051365.1:g.17568TG[20], NG_051365.1:g.17568TG[21], NG_051365.1:g.17568TG[22], NG_051365.1:g.17568TG[23], NG_051365.1:g.17568TG[24], NG_051365.1:g.17568TG[25], NG_051365.1:g.17568TG[26], NG_051365.1:g.17568TG[27], NG_051365.1:g.17568TG[28], NG_051365.1:g.17568TG[29], NG_051365.1:g.17568TG[37]

Select item 14909850349.

rs1490985034 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:185779182 (GRCh38)
2:186643909 (GRCh37)
Canonical SPDI:: NC_000002.12:185779181:T:G
Gene:: FSIP2 (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)
G=0.000106/2 (TOMMO)
HGVS:: NC_000002.12:g.185779182T>G, NC_000002.11:g.186643909T>G, NG_051365.1:g.45288T>G

Select item 149097967510.

rs1490979675 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:185795171 (GRCh38)
2:186659898 (GRCh37)
Canonical SPDI:: NC_000002.12:185795170:A:G
Gene:: FSIP2 (Varview), FSIP2-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
G=0.000154/21 (GnomAD_exomes)
HGVS:: NC_000002.12:g.185795171A>G, NC_000002.11:g.186659898A>G, NG_051365.1:g.61277A>G, NM_173651.4:c.8035A>G, NM_173651.3:c.8035A>G, NM_173651.2:c.8302A>G, XM_047444329.1:c.8041A>G, XM_047444333.1:c.7435A>G, XM_047444331.1:c.8041A>G, XM_047444335.1:c.8041A>G, XM_047444336.1:c.8041A>G, NP_775922.3:p.Lys2679Glu, XP_047300285.1:p.Lys2681Glu, XP_047300289.1:p.Lys2479Glu, XP_047300287.1:p.Lys2681Glu, XP_047300291.1:p.Lys2681Glu, XP_047300292.1:p.Lys2681Glu

Select item 149095758111.

rs1490957581 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:185778301 (GRCh38)
2:186643028 (GRCh37)
Canonical SPDI:: NC_000002.12:185778300:T:C
Gene:: FSIP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.185778301T>C, NC_000002.11:g.186643028T>C, NG_051365.1:g.44407T>C

Select item 149094528612.

rs1490945286 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:185744885 (GRCh38)
2:186609612 (GRCh37)
Canonical SPDI:: NC_000002.12:185744884:T:C
Gene:: FSIP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.185744885T>C, NC_000002.11:g.186609612T>C, NG_051365.1:g.10991T>C

Select item 149094166413.

rs1490941664 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:185765352 (GRCh38)
2:186630079 (GRCh37)
Canonical SPDI:: NC_000002.12:185765351:T:C
Gene:: FSIP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.185765352T>C, NC_000002.11:g.186630079T>C, NG_051365.1:g.31458T>C

Select item 149091187314.

rs1490911873 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:185813025 (GRCh38)
2:186677752 (GRCh37)
Canonical SPDI:: NC_000002.12:185813024:G:A
Gene:: FSIP2 (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_000002.12:g.185813025G>A, NC_000002.11:g.186677752G>A, NG_051365.1:g.79131G>A

Select item 149084193415.

rs1490841934 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:185795084 (GRCh38)
2:186659811 (GRCh37)
Canonical SPDI:: NC_000002.12:185795083:G:A,NC_000002.12:185795083:G:T
Gene:: FSIP2 (Varview), FSIP2-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.185795084G>A, NC_000002.12:g.185795084G>T, NC_000002.11:g.186659811G>A, NC_000002.11:g.186659811G>T, NG_051365.1:g.61190G>A, NG_051365.1:g.61190G>T, NM_173651.4:c.7948G>A, NM_173651.4:c.7948G>T, NM_173651.3:c.7948G>A, NM_173651.3:c.7948G>T, NM_173651.2:c.8215G>A, NM_173651.2:c.8215G>T, XM_047444329.1:c.7954G>A, XM_047444329.1:c.7954G>T, XM_047444333.1:c.7348G>A, XM_047444333.1:c.7348G>T, XM_047444331.1:c.7954G>A, XM_047444331.1:c.7954G>T, XM_047444335.1:c.7954G>A, XM_047444335.1:c.7954G>T, XM_047444336.1:c.7954G>A, XM_047444336.1:c.7954G>T, NP_775922.3:p.Val2650Met, NP_775922.3:p.Val2650Leu, XP_047300285.1:p.Val2652Met, XP_047300285.1:p.Val2652Leu, XP_047300289.1:p.Val2450Met, XP_047300289.1:p.Val2450Leu, XP_047300287.1:p.Val2652Met, XP_047300287.1:p.Val2652Leu, XP_047300291.1:p.Val2652Met, XP_047300291.1:p.Val2652Leu, XP_047300292.1:p.Val2652Met, XP_047300292.1:p.Val2652Leu

Select item 149083466716.

rs1490834667 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:185821505 (GRCh38)
2:186686232 (GRCh37)
Canonical SPDI:: NC_000002.12:185821504:G:T
Gene:: FSIP2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.185821505G>T, NC_000002.11:g.186686232G>T, NG_051365.1:g.87611G>T

Select item 149070762217.

rs1490707622 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:185749337 (GRCh38)
2:186614064 (GRCh37)
Canonical SPDI:: NC_000002.12:185749336:T:C
Gene:: FSIP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.185749337T>C, NC_000002.11:g.186614064T>C, NG_051365.1:g.15443T>C

Select item 149068100018.

rs1490681000 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 2:185822583 (GRCh38)
2:186687310 (GRCh37)
Canonical SPDI:: NC_000002.12:185822580:ACAC:AC
Gene:: FSIP2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACAC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.185822581AC[1], NC_000002.11:g.186687308AC[1], NG_051365.1:g.88687AC[1]

Select item 149062938719.

rs1490629387 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:185804602 (GRCh38)
2:186669329 (GRCh37)
Canonical SPDI:: NC_000002.12:185804601:T:G
Gene:: FSIP2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.185804602T>G, NC_000002.11:g.186669329T>G, NG_051365.1:g.70708T>G, NM_173651.4:c.15296T>G, NM_173651.3:c.15296T>G, NM_173651.2:c.15563T>G, XM_047444329.1:c.15302T>G, XM_047444333.1:c.14696T>G, XM_047444331.1:c.14579T>G, XM_047444335.1:c.15302T>G, NP_775922.3:p.Ile5099Ser, XP_047300285.1:p.Ile5101Ser, XP_047300289.1:p.Ile4899Ser, XP_047300287.1:p.Ile4860Ser, XP_047300291.1:p.Ile5101Ser

Select item 149057259820.

rs1490572598 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:185746011 (GRCh38)
2:186610738 (GRCh37)
Canonical SPDI:: NC_000002.12:185746010:A:C
Gene:: FSIP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.185746011A>C, NC_000002.11:g.186610738A>C, NG_051365.1:g.12117A>C

<< First< Prev

Page of 50

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 1000

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity