SNP Links for Gene (Select 166752) - SNP

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Select item 14915864971.

rs1491586497 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGCG [Show Flanks]
Chromosome:: 4:143644200 (GRCh38)
4:144565354 (GRCh37)
Canonical SPDI:: NC_000004.12:143644200:G:GTGCG
Gene:: FREM3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTGCG=0./0 (ALFA)
GTGC=0.00003/4 (GnomAD)
HGVS:: NC_000004.12:g.143644201_143644202insTGCG, NC_000004.11:g.144565354_144565355insTGCG, NG_052820.1:g.61475_61476insGCAC

Select item 14915419512.

rs1491541951 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:143584415 (GRCh38)
4:144505568 (GRCh37)
Canonical SPDI:: NC_000004.12:143584414:CA:
Gene:: FREM3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.05185/615 (ALFA)
-=0.00618/101 (TOMMO)
HGVS:: NC_000004.12:g.143584415_143584416del, NC_000004.11:g.144505568_144505569del, NG_052820.1:g.121260_121261del

Select item 14914662633.

rs1491466263 has merged into rs35964270 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCCC>-,C,CC,CCC,CCCC,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCC,CCCCCCCCCCCCC,CCCCCCCCCCCCCC [Show Flanks]
Chromosome:: 4:143623503 (GRCh38)
4:144544656 (GRCh37)
Canonical SPDI:: NC_000004.12:143623493:CCCCCCCCCCCCCC:CCCCCCCCC,NC_000004.12:143623493:CCCCCCCCCCCCCC:CCCCCCCCCC,NC_000004.12:143623493:CCCCCCCCCCCCCC:CCCCCCCCCCC,NC_000004.12:143623493:CCCCCCCCCCCCCC:CCCCCCCCCCCC,NC_000004.12:143623493:CCCCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000004.12:143623493:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000004.12:143623493:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000004.12:143623493:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000004.12:143623493:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000004.12:143623493:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCC,NC_000004.12:143623493:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCC,NC_000004.12:143623493:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCC,NC_000004.12:143623493:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCC,NC_000004.12:143623493:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCC
Gene:: FREM3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCC=0./0 (ALFA)
CCC=0.4669/2338 (1000Genomes)
HGVS:: NC_000004.12:g.143623503_143623507del, NC_000004.12:g.143623504_143623507del, NC_000004.12:g.143623505_143623507del, NC_000004.12:g.143623506_143623507del, NC_000004.12:g.143623507del, NC_000004.12:g.143623507dup, NC_000004.12:g.143623506_143623507dup, NC_000004.12:g.143623505_143623507dup, NC_000004.12:g.143623504_143623507dup, NC_000004.12:g.143623503_143623507dup, NC_000004.12:g.143623502_143623507dup, NC_000004.12:g.143623501_143623507dup, NC_000004.12:g.143623500_143623507dup, NC_000004.12:g.143623499_143623507dup, NC_000004.11:g.144544656_144544660del, NC_000004.11:g.144544657_144544660del, NC_000004.11:g.144544658_144544660del, NC_000004.11:g.144544659_144544660del, NC_000004.11:g.144544660del, NC_000004.11:g.144544660dup, NC_000004.11:g.144544659_144544660dup, NC_000004.11:g.144544658_144544660dup, NC_000004.11:g.144544657_144544660dup, NC_000004.11:g.144544656_144544660dup, NC_000004.11:g.144544655_144544660dup, NC_000004.11:g.144544654_144544660dup, NC_000004.11:g.144544653_144544660dup, NC_000004.11:g.144544652_144544660dup, NG_052820.1:g.82178_82182del, NG_052820.1:g.82179_82182del, NG_052820.1:g.82180_82182del, NG_052820.1:g.82181_82182del, NG_052820.1:g.82182del, NG_052820.1:g.82182dup, NG_052820.1:g.82181_82182dup, NG_052820.1:g.82180_82182dup, NG_052820.1:g.82179_82182dup, NG_052820.1:g.82178_82182dup, NG_052820.1:g.82177_82182dup, NG_052820.1:g.82176_82182dup, NG_052820.1:g.82175_82182dup, NG_052820.1:g.82174_82182dup

Select item 14914584204.

rs1491458420 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,T [Show Flanks]
Chromosome:: 4:143623494 (GRCh38)
4:144544648 (GRCh37)
Canonical SPDI:: NC_000004.12:143623494::G,NC_000004.12:143623494::T
Gene:: FREM3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00027/3 (GnomAD)
T=0.00044/6 (TOMMO)
HGVS:: NC_000004.12:g.143623494_143623495insG, NC_000004.12:g.143623494_143623495insT, NC_000004.11:g.144544647_144544648insG, NC_000004.11:g.144544647_144544648insT, NG_052820.1:g.82181_82182insC, NG_052820.1:g.82181_82182insA

Select item 14913837665.

rs1491383766 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 4:143623493 (GRCh38)
4:144544646 (GRCh37)
Canonical SPDI:: NC_000004.12:143623492:TC:
Gene:: FREM3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00042/5 (ALFA)
HGVS:: NC_000004.12:g.143623493_143623494del, NC_000004.11:g.144544646_144544647del, NG_052820.1:g.82182_82183del

Select item 14913417776.

rs1491341777 has merged into rs35835336 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:143622413 (GRCh38)
4:144543566 (GRCh37)
Canonical SPDI:: NC_000004.12:143622403:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000004.12:143622403:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:143622403:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:143622403:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:143622403:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:143622403:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:143622403:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:143622403:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:143622403:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:143622403:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:143622403:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: FREM3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000004.12:g.143622413_143622421del, NC_000004.12:g.143622414_143622421del, NC_000004.12:g.143622417_143622421del, NC_000004.12:g.143622418_143622421del, NC_000004.12:g.143622419_143622421del, NC_000004.12:g.143622420_143622421del, NC_000004.12:g.143622421del, NC_000004.12:g.143622421dup, NC_000004.12:g.143622420_143622421dup, NC_000004.12:g.143622419_143622421dup, NC_000004.12:g.143622417_143622421dup, NC_000004.11:g.144543566_144543574del, NC_000004.11:g.144543567_144543574del, NC_000004.11:g.144543570_144543574del, NC_000004.11:g.144543571_144543574del, NC_000004.11:g.144543572_144543574del, NC_000004.11:g.144543573_144543574del, NC_000004.11:g.144543574del, NC_000004.11:g.144543574dup, NC_000004.11:g.144543573_144543574dup, NC_000004.11:g.144543572_144543574dup, NC_000004.11:g.144543570_144543574dup, NG_052820.1:g.83264_83272del, NG_052820.1:g.83265_83272del, NG_052820.1:g.83268_83272del, NG_052820.1:g.83269_83272del, NG_052820.1:g.83270_83272del, NG_052820.1:g.83271_83272del, NG_052820.1:g.83272del, NG_052820.1:g.83272dup, NG_052820.1:g.83271_83272dup, NG_052820.1:g.83270_83272dup, NG_052820.1:g.83268_83272dup

Select item 14913232377.

rs1491323237 has merged into rs33979492 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 4:143584433 (GRCh38)
4:144505586 (GRCh37)
Canonical SPDI:: NC_000004.12:143584415:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:143584415:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:143584415:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:143584415:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:143584415:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:143584415:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:143584415:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:143584415:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: FREM3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.4505/2256 (1000Genomes)
HGVS:: NC_000004.12:g.143584433_143584437del, NC_000004.12:g.143584434_143584437del, NC_000004.12:g.143584435_143584437del, NC_000004.12:g.143584436_143584437del, NC_000004.12:g.143584437del, NC_000004.12:g.143584437dup, NC_000004.12:g.143584436_143584437dup, NC_000004.12:g.143584435_143584437dup, NC_000004.11:g.144505586_144505590del, NC_000004.11:g.144505587_144505590del, NC_000004.11:g.144505588_144505590del, NC_000004.11:g.144505589_144505590del, NC_000004.11:g.144505590del, NC_000004.11:g.144505590dup, NC_000004.11:g.144505589_144505590dup, NC_000004.11:g.144505588_144505590dup, NG_052820.1:g.121256_121260del, NG_052820.1:g.121257_121260del, NG_052820.1:g.121258_121260del, NG_052820.1:g.121259_121260del, NG_052820.1:g.121260del, NG_052820.1:g.121260dup, NG_052820.1:g.121259_121260dup, NG_052820.1:g.121258_121260dup

Select item 14913123478.

rs1491312347 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 4:143622422 (GRCh38)
4:144543575 (GRCh37)
Canonical SPDI:: NC_000004.12:143622421:CCC:CC,NC_000004.12:143622421:CCC:CCCC
Gene:: FREM3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCC=0./0 (ALFA)
-=0.000025/3 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.143622424del, NC_000004.12:g.143622424dup, NC_000004.11:g.144543577del, NC_000004.11:g.144543577dup, NG_052820.1:g.83254del, NG_052820.1:g.83254dup

Select item 14912682759.

rs1491268275 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 4:143622421 (GRCh38)
4:144543574 (GRCh37)
Canonical SPDI:: NC_000004.12:143622420:TC:
Gene:: FREM3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000429/7 (ALFA)
-=0.000048/6 (GnomAD)
HGVS:: NC_000004.12:g.143622421_143622422del, NC_000004.11:g.144543574_144543575del, NG_052820.1:g.83254_83255del

Select item 149125359010.

rs1491253590 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 4:143669454 (GRCh38)
4:144590608 (GRCh37)
Canonical SPDI:: NC_000004.12:143669454:AT:ATAT
Gene:: FREM3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAT=0./0 (ALFA)
AT=0.000004/1 (TOPMED)
AT=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.143669455_143669456dup, NC_000004.11:g.144590608_144590609dup, NG_052820.1:g.36220_36221dup

Select item 149125106011.

rs1491251060 has merged into rs35792262 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:143636347 (GRCh38)
4:144557500 (GRCh37)
Canonical SPDI:: NC_000004.12:143636333:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:143636333:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:143636333:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:143636333:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:143636333:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:143636333:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:143636333:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:143636333:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:143636333:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:143636333:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:143636333:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:143636333:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:143636333:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:143636333:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: FREM3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.223/1117 (1000Genomes)
HGVS:: NC_000004.12:g.143636347_143636353del, NC_000004.12:g.143636348_143636353del, NC_000004.12:g.143636349_143636353del, NC_000004.12:g.143636350_143636353del, NC_000004.12:g.143636351_143636353del, NC_000004.12:g.143636352_143636353del, NC_000004.12:g.143636353del, NC_000004.12:g.143636353dup, NC_000004.12:g.143636352_143636353dup, NC_000004.12:g.143636351_143636353dup, NC_000004.12:g.143636350_143636353dup, NC_000004.12:g.143636349_143636353dup, NC_000004.12:g.143636348_143636353dup, NC_000004.12:g.143636347_143636353dup, NC_000004.11:g.144557500_144557506del, NC_000004.11:g.144557501_144557506del, NC_000004.11:g.144557502_144557506del, NC_000004.11:g.144557503_144557506del, NC_000004.11:g.144557504_144557506del, NC_000004.11:g.144557505_144557506del, NC_000004.11:g.144557506del, NC_000004.11:g.144557506dup, NC_000004.11:g.144557505_144557506dup, NC_000004.11:g.144557504_144557506dup, NC_000004.11:g.144557503_144557506dup, NC_000004.11:g.144557502_144557506dup, NC_000004.11:g.144557501_144557506dup, NC_000004.11:g.144557500_144557506dup, NG_052820.1:g.69336_69342del, NG_052820.1:g.69337_69342del, NG_052820.1:g.69338_69342del, NG_052820.1:g.69339_69342del, NG_052820.1:g.69340_69342del, NG_052820.1:g.69341_69342del, NG_052820.1:g.69342del, NG_052820.1:g.69342dup, NG_052820.1:g.69341_69342dup, NG_052820.1:g.69340_69342dup, NG_052820.1:g.69339_69342dup, NG_052820.1:g.69338_69342dup, NG_052820.1:g.69337_69342dup, NG_052820.1:g.69336_69342dup

Select item 149121210512.

rs1491212105 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:143615718 (GRCh38)
4:144536871 (GRCh37)
Canonical SPDI:: NC_000004.12:143615716:ACA:A
Gene:: FREM3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.012561/149 (ALFA)
-=0.01646/2242 (GnomAD)
HGVS:: NC_000004.12:g.143615718_143615719del, NC_000004.11:g.144536871_144536872del, NG_052820.1:g.89958_89959del

Select item 149118469213.

rs1491184692 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 4:143669454 (GRCh38)
4:144590607 (GRCh37)
Canonical SPDI:: NC_000004.12:143669453:AA:
Gene:: FREM3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000179/25 (GnomAD)
HGVS:: NC_000004.12:g.143669454_143669455del, NC_000004.11:g.144590607_144590608del, NG_052820.1:g.36221_36222del

Select item 149115910514.

rs1491159105 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:143636333 (GRCh38)
4:144557486 (GRCh37)
Canonical SPDI:: NC_000004.12:143636332:CA:
Gene:: FREM3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.143636333_143636334del, NC_000004.11:g.144557486_144557487del, NG_052820.1:g.69342_69343del

Select item 149110198615.

rs1491101986 has merged into rs72125581 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA,AAA [Show Flanks]
Chromosome:: 4:143632811 (GRCh38)
4:144553964 (GRCh37)
Canonical SPDI:: NC_000004.12:143632810:AAAAAAAAAA:AAAAAAAAA,NC_000004.12:143632810:AAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:143632810:AAAAAAAAAA:AAAAAAAAAAAA
Gene:: FREM3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0.000451/7 (ALFA)
-=0.096407/25518 (TOPMED)
-=0.096667/58 (NorthernSweden)
-=0.097743/459 (1000Genomes)
-=0.102777/459 (Estonian)
-=0.110016/424 (ALSPAC)
-=0.12028/446 (TWINSUK)
-=0.175/7 (GENOME_DK)
HGVS:: NC_000004.12:g.143632820del, NC_000004.12:g.143632820dup, NC_000004.12:g.143632819_143632820dup, NC_000004.11:g.144553973del, NC_000004.11:g.144553973dup, NC_000004.11:g.144553972_144553973dup, NG_052820.1:g.72865del, NG_052820.1:g.72865dup, NG_052820.1:g.72864_72865dup

Select item 149098576216.

rs1490985762 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 4:143627138 (GRCh38)
4:144548292 (GRCh37)
Canonical SPDI:: NC_000004.12:143627138:T:TT
Gene:: FREM3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.143627139dup, NC_000004.11:g.144548292dup, NG_052820.1:g.78537dup

Select item 149093570117.

rs1490935701 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:143678142 (GRCh38)
4:144599295 (GRCh37)
Canonical SPDI:: NC_000004.12:143678141:A:G
Gene:: FREM3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.143678142A>G, NC_000004.11:g.144599295A>G, NG_052820.1:g.27534T>C

Select item 149091662818.

rs1490916628 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:143646774 (GRCh38)
4:144567927 (GRCh37)
Canonical SPDI:: NC_000004.12:143646773:G:A
Gene:: FREM3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.143646774G>A, NC_000004.11:g.144567927G>A, NG_052820.1:g.58902C>T

Select item 149089981319.

rs1490899813 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:143699626 (GRCh38)
4:144620779 (GRCh37)
Canonical SPDI:: NC_000004.12:143699625:G:A
Gene:: FREM3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.143699626G>A, NC_000004.11:g.144620779G>A, NG_052820.1:g.6050C>T, NM_001168235.2:c.1050C>T, NM_001168235.1:c.1050C>T

Select item 149086054120.

rs1490860541 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:143649723 (GRCh38)
4:144570876 (GRCh37)
Canonical SPDI:: NC_000004.12:143649722:T:C
Gene:: FREM3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000004.12:g.143649723T>C, NC_000004.11:g.144570876T>C, NG_052820.1:g.55953A>G

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