SNP Links for Gene (Select 645425) - SNP

Links from Gene

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Select item 14915560611.

rs1491556061 [Homo sapiens]

Variant type:: INS
Alleles:: ->CC [Show Flanks]
Chromosome:: 1:13409734 (GRCh38)
1:13736192 (GRCh37)
Canonical SPDI:: NC_000001.11:13409734::CC
Gene:: PRAMEF20 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: CC=0.00101/12 (ALFA)
HGVS:: NC_000001.11:g.13409734_13409735insCC, NC_000001.10:g.13736191_13736192insCC

Select item 14915407262.

rs1491540726 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:13417752 (GRCh38)
1:13744209 (GRCh37)
Canonical SPDI:: NC_000001.11:13417750:TCT:T
Gene:: PRAMEF20 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.13417752_13417753del, NC_000001.10:g.13744209_13744210del

Select item 14914895753.

rs1491489575 has merged into rs149194621 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:13414219 (GRCh38)
1:13740676 (GRCh37)
Canonical SPDI:: NC_000001.11:13414208:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:13414208:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:13414208:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:13414208:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:13414208:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:13414208:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:13414208:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:13414208:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:13414208:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:13414208:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:13414208:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:13414208:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:13414208:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:13414208:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:13414208:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:13414208:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:13414208:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:13414208:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:13414208:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:13414208:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:13414208:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:13414208:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:13414208:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:13414208:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:13414208:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:13414208:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:13414208:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:13414208:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:13414208:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:13414208:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:13414208:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:13414208:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:13414208:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:13414208:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:13414208:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:13414208:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:13414208:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:13414208:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:13414208:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PRAMEF20 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.25/2 (GENOME_DK)
HGVS:: NC_000001.11:g.13414219_13414232del, NC_000001.11:g.13414220_13414232del, NC_000001.11:g.13414222_13414232del, NC_000001.11:g.13414223_13414232del, NC_000001.11:g.13414224_13414232del, NC_000001.11:g.13414225_13414232del, NC_000001.11:g.13414226_13414232del, NC_000001.11:g.13414227_13414232del, NC_000001.11:g.13414228_13414232del, NC_000001.11:g.13414229_13414232del, NC_000001.11:g.13414230_13414232del, NC_000001.11:g.13414231_13414232del, NC_000001.11:g.13414232del, NC_000001.11:g.13414232dup, NC_000001.11:g.13414231_13414232dup, NC_000001.11:g.13414230_13414232dup, NC_000001.11:g.13414229_13414232dup, NC_000001.11:g.13414228_13414232dup, NC_000001.11:g.13414227_13414232dup, NC_000001.11:g.13414226_13414232dup, NC_000001.11:g.13414225_13414232dup, NC_000001.11:g.13414224_13414232dup, NC_000001.11:g.13414223_13414232dup, NC_000001.11:g.13414222_13414232dup, NC_000001.11:g.13414221_13414232dup, NC_000001.11:g.13414220_13414232dup, NC_000001.11:g.13414219_13414232dup, NC_000001.11:g.13414218_13414232dup, NC_000001.11:g.13414217_13414232dup, NC_000001.11:g.13414216_13414232dup, NC_000001.11:g.13414215_13414232dup, NC_000001.11:g.13414214_13414232dup, NC_000001.11:g.13414213_13414232dup, NC_000001.11:g.13414211_13414232dup, NC_000001.11:g.13414210_13414232dup, NC_000001.11:g.13414232_13414233insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.13414232_13414233insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.13414232_13414233insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.13414232_13414233insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.13740676_13740689del, NC_000001.10:g.13740677_13740689del, NC_000001.10:g.13740679_13740689del, NC_000001.10:g.13740680_13740689del, NC_000001.10:g.13740681_13740689del, NC_000001.10:g.13740682_13740689del, NC_000001.10:g.13740683_13740689del, NC_000001.10:g.13740684_13740689del, NC_000001.10:g.13740685_13740689del, NC_000001.10:g.13740686_13740689del, NC_000001.10:g.13740687_13740689del, NC_000001.10:g.13740688_13740689del, NC_000001.10:g.13740689del, NC_000001.10:g.13740689dup, NC_000001.10:g.13740688_13740689dup, NC_000001.10:g.13740687_13740689dup, NC_000001.10:g.13740686_13740689dup, NC_000001.10:g.13740685_13740689dup, NC_000001.10:g.13740684_13740689dup, NC_000001.10:g.13740683_13740689dup, NC_000001.10:g.13740682_13740689dup, NC_000001.10:g.13740681_13740689dup, NC_000001.10:g.13740680_13740689dup, NC_000001.10:g.13740679_13740689dup, NC_000001.10:g.13740678_13740689dup, NC_000001.10:g.13740677_13740689dup, NC_000001.10:g.13740676_13740689dup, NC_000001.10:g.13740675_13740689dup, NC_000001.10:g.13740674_13740689dup, NC_000001.10:g.13740673_13740689dup, NC_000001.10:g.13740672_13740689dup, NC_000001.10:g.13740671_13740689dup, NC_000001.10:g.13740670_13740689dup, NC_000001.10:g.13740668_13740689dup, NC_000001.10:g.13740667_13740689dup, NC_000001.10:g.13740689_13740690insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.13740689_13740690insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.13740689_13740690insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.13740689_13740690insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914849284.

rs1491484928 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 1:13414233 (GRCh38)
1:13740690 (GRCh37)
Canonical SPDI:: NC_000001.11:13414231:TGT:T
Gene:: PRAMEF20 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.005817/69 (ALFA)
-=0.001115/120 (GnomAD)
-=0.003853/108 (TOMMO)
-=0.005465/35 (1000Genomes)
HGVS:: NC_000001.11:g.13414233_13414234del, NC_000001.10:g.13740690_13740691del

Select item 14914762175.

rs1491476217 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:13410604 (GRCh38)
1:13737061 (GRCh37)
Canonical SPDI:: NC_000001.11:13410601:CACA:CA
Gene:: PRAMEF20 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACA=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000026/7 (TOPMED)
HGVS:: NC_000001.11:g.13410602CA[1], NC_000001.10:g.13737059CA[1]

Select item 14914396966.

rs1491439696 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:13414208 (GRCh38)
1:13740665 (GRCh37)
Canonical SPDI:: NC_000001.11:13414207:AT:
Gene:: PRAMEF20 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000674/8 (ALFA)
-=0.001131/114 (GnomAD)
HGVS:: NC_000001.11:g.13414208_13414209del, NC_000001.10:g.13740665_13740666del

Select item 14913782287.

rs1491378228 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,G [Show Flanks]
Chromosome:: 1:13417909 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:13417909::A,NC_000001.11:13417909::G
Gene:: PRAMEF20 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.14035/3938 (TOMMO)
HGVS:: NC_000001.11:g.13417909_13417910insA, NC_000001.11:g.13417909_13417910insG

Select item 14913221128.

rs1491322112 has merged into rs878885349 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T [Show Flanks]
Chromosome:: 1:13417910 (GRCh38)
1:0 (GRCh37)
Canonical SPDI:: NC_000001.11:13417908:TTT:T,NC_000001.11:13417908:TTT:TT
Gene:: PRAMEF20 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.00129/36 (TOMMO)
HGVS:: NC_000001.11:g.13417910_13417911del, NC_000001.11:g.13417911del

Select item 14912776909.

rs1491277690 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTC [Show Flanks]
Chromosome:: 1:13414232 (GRCh38)
1:13740690 (GRCh37)
Canonical SPDI:: NC_000001.11:13414232::TTC
Gene:: PRAMEF20 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTC=0./0 (ALFA)
TTC=0.000004/1 (TOPMED)
TTC=0.000009/1 (GnomAD)
HGVS:: NC_000001.11:g.13414232_13414233insTTC, NC_000001.10:g.13740689_13740690insTTC

Select item 149125421910.

rs1491254219 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:13417751 (GRCh38)
1:13744209 (GRCh37)
Canonical SPDI:: NC_000001.11:13417751:C:CC
Gene:: PRAMEF20 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000009/1 (GnomAD)
HGVS:: NC_000001.11:g.13417752dup, NC_000001.10:g.13744209dup

Select item 149122879411.

rs1491228794 has merged into rs34234163 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 1:13409747 (GRCh38)
1:13736204 (GRCh37)
Canonical SPDI:: NC_000001.11:13409733:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:13409733:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:13409733:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:13409733:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:13409733:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:13409733:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: PRAMEF20 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.13409747_13409748del, NC_000001.11:g.13409748del, NC_000001.11:g.13409748dup, NC_000001.11:g.13409747_13409748dup, NC_000001.11:g.13409746_13409748dup, NC_000001.11:g.13409745_13409748dup, NC_000001.10:g.13736204_13736205del, NC_000001.10:g.13736205del, NC_000001.10:g.13736205dup, NC_000001.10:g.13736204_13736205dup, NC_000001.10:g.13736203_13736205dup, NC_000001.10:g.13736202_13736205dup

Select item 149109859212.

rs1491098592 [Homo sapiens]

Variant type:: INS
Alleles:: ->TACG [Show Flanks]
Chromosome:: 1:13410602 (GRCh38)
1:13737060 (GRCh37)
Canonical SPDI:: NC_000001.11:13410602::TACG
Gene:: PRAMEF20 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.13410602_13410603insTACG, NC_000001.10:g.13737059_13737060insTACG

Select item 149087009913.

rs1490870099 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:13412108 (GRCh38)
1:13738565 (GRCh37)
Canonical SPDI:: NC_000001.11:13412107:C:T
Gene:: PRAMEF20 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.13412108C>T, NC_000001.10:g.13738565C>T

Select item 149055911014.

rs1490559110 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:13419614 (GRCh38)
1:13746089 (GRCh37)
Canonical SPDI:: NC_000001.11:13419613:T:C
Gene:: PRAMEF20 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000084/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000023/6 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.13419614T>C, NC_000001.10:g.13746089T>C

Select item 149036549815.

rs1490365498 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:13413502 (GRCh38)
1:13739959 (GRCh37)
Canonical SPDI:: NC_000001.11:13413501:C:G,NC_000001.11:13413501:C:T
Gene:: PRAMEF20 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.13413502C>G, NC_000001.11:g.13413502C>T, NC_000001.10:g.13739959C>G, NC_000001.10:g.13739959C>T

Select item 149009118116.

rs1490091181 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:13418998 (GRCh38)
1:13745473 (GRCh37)
Canonical SPDI:: NC_000001.11:13418997:G:A
Gene:: PRAMEF20 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.13418998G>A, NC_000001.10:g.13745473G>A

Select item 148994322017.

rs1489943220 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:13418415 (GRCh38)
1:13744890 (GRCh37)
Canonical SPDI:: NC_000001.11:13418414:A:G
Gene:: PRAMEF20 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000106/3 (TOMMO)
G=0.000156/1 (1000Genomes)
G=0.000546/1 (Korea1K)
HGVS:: NC_000001.11:g.13418415A>G, NC_000001.10:g.13744890A>G, NM_001099852.2:c.581A>G, NM_001099852.1:c.581A>G, NM_001100114.1:c.581A>G, NM_001024658.1:c.581A>G, NP_001093322.2:p.Asn194Ser

Select item 148986371118.

rs1489863711 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:13413972 (GRCh38)
1:13740429 (GRCh37)
Canonical SPDI:: NC_000001.11:13413971:A:C
Gene:: PRAMEF20 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.13413972A>C, NC_000001.10:g.13740429A>C

Select item 148983325319.

rs1489833253 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:13414718 (GRCh38)
1:13741176 (GRCh37)
Canonical SPDI:: NC_000001.11:13414718:CC:CCC
Gene:: PRAMEF20 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.13414720dup, NC_000001.10:g.13741177dup

Select item 148972544020.

rs1489725440 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:13420777 (GRCh38)
1:13747252 (GRCh37)
Canonical SPDI:: NC_000001.11:13420776:A:G
Gene:: PRAMEF20 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000094/13 (GnomAD)
G=0.002183/4 (Korea1K)
G=0.005309/34 (1000Genomes)
G=0.015642/442 (TOMMO)
HGVS:: NC_000001.11:g.13420777A>G, NC_000001.10:g.13747252A>G, NM_001099852.2:c.947A>G, NM_001099852.1:c.947A>G, NM_001100114.1:c.947A>G, NM_001024658.1:c.947A>G, NP_001093322.2:p.Tyr316Cys

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dbSNP

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