SNP Links for Nucleotide (Select 261598997) - SNP

Links from Nucleotide

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Select item 14914421191.

rs1491442119 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTTTTTTTTG,TTTTTTTTTTTTTTGTTGGG,TTTTTTTTTTTTTTTG,TTTTTTTTTTTTTTTGGG,TTTTTTTTTTTTTTTTG,TTTTTTTTTTTTTTTTGGG,TTTTTTTTTTTTTTTTTG,TTTTTTTTTTTTTTTTTTG [Show Flanks]
Chromosome:: 7:157006870 (GRCh38)
7:156799565 (GRCh37)
Canonical SPDI:: NC_000007.14:157006870::TTTTTTTTTG,NC_000007.14:157006870::TTTTTTTTTTTTTTGTTGGG,NC_000007.14:157006870::TTTTTTTTTTTTTTTG,NC_000007.14:157006870::TTTTTTTTTTTTTTTGGG,NC_000007.14:157006870::TTTTTTTTTTTTTTTTG,NC_000007.14:157006870::TTTTTTTTTTTTTTTTGGG,NC_000007.14:157006870::TTTTTTTTTTTTTTTTTG,NC_000007.14:157006870::TTTTTTTTTTTTTTTTTTG
Gene:: MNX1 (Varview), MNX1-AS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTG=0.000067/1 (ALFA)
TTTTTTTTTG=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.157006870_157006871insTTTTTTTTTG, NC_000007.14:g.157006870_157006871insTTTTTTTTTTTTTTGTTGGG, NC_000007.14:g.157006870_157006871insTTTTTTTTTTTTTTTG, NC_000007.14:g.157006870_157006871insTTTTTTTTTTTTTTTGGG, NC_000007.14:g.157006870_157006871insTTTTTTTTTTTTTTTTG, NC_000007.14:g.157006870_157006871insTTTTTTTTTTTTTTTTGGG, NC_000007.14:g.157006870_157006871insTTTTTTTTTTTTTTTTTG, NC_000007.14:g.157006870_157006871insTTTTTTTTTTTTTTTTTTG, NC_000007.13:g.156799564_156799565insTTTTTTTTTG, NC_000007.13:g.156799564_156799565insTTTTTTTTTTTTTTGTTGGG, NC_000007.13:g.156799564_156799565insTTTTTTTTTTTTTTTG, NC_000007.13:g.156799564_156799565insTTTTTTTTTTTTTTTGGG, NC_000007.13:g.156799564_156799565insTTTTTTTTTTTTTTTTG, NC_000007.13:g.156799564_156799565insTTTTTTTTTTTTTTTTGGG, NC_000007.13:g.156799564_156799565insTTTTTTTTTTTTTTTTTG, NC_000007.13:g.156799564_156799565insTTTTTTTTTTTTTTTTTTG, NG_013212.1:g.8783_8784insCAAAAAAAAA, NG_013212.1:g.8783_8784insCCCAACAAAAAAAAAAAAAA, NG_013212.1:g.8783_8784insCAAAAAAAAAAAAAAA, NG_013212.1:g.8783_8784insCCCAAAAAAAAAAAAAAA, NG_013212.1:g.8783_8784insCAAAAAAAAAAAAAAAA, NG_013212.1:g.8783_8784insCCCAAAAAAAAAAAAAAAA, NG_013212.1:g.8783_8784insCAAAAAAAAAAAAAAAAA, NG_013212.1:g.8783_8784insCAAAAAAAAAAAAAAAAAA

Select item 14914419222.

rs1491441922 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 7:157006871 (GRCh38)
7:156799565 (GRCh37)
Canonical SPDI:: NC_000007.14:157006869:TGT:T
Gene:: MNX1 (Varview), MNX1-AS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.157006871_157006872del, NC_000007.13:g.156799565_156799566del, NG_013212.1:g.8783_8784del

Select item 14910890973.

rs1491089097 has merged into rs34656460 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:157012513 (GRCh38)
7:156805207 (GRCh37)
Canonical SPDI:: NC_000007.14:157012504:TTTTTTTTTTTT:TTTTTTTT,NC_000007.14:157012504:TTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:157012504:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:157012504:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:157012504:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:157012504:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:157012504:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:157012504:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:157012504:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:157012504:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:157012504:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:157012504:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157012504:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157012504:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157012504:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157012504:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157012504:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157012504:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157012504:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MNX1 (Varview), MNX1-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
T=0.347/1738 (1000Genomes)
HGVS:: NC_000007.14:g.157012513_157012516del, NC_000007.14:g.157012515_157012516del, NC_000007.14:g.157012516del, NC_000007.14:g.157012516dup, NC_000007.14:g.157012515_157012516dup, NC_000007.14:g.157012514_157012516dup, NC_000007.14:g.157012513_157012516dup, NC_000007.14:g.157012512_157012516dup, NC_000007.14:g.157012511_157012516dup, NC_000007.14:g.157012510_157012516dup, NC_000007.14:g.157012509_157012516dup, NC_000007.14:g.157012508_157012516dup, NC_000007.14:g.157012507_157012516dup, NC_000007.14:g.157012506_157012516dup, NC_000007.14:g.157012505_157012516dup, NC_000007.14:g.157012516_157012517insTTTTTTTTTTTTT, NC_000007.14:g.157012516_157012517insTTTTTTTTTTTTTTT, NC_000007.14:g.157012516_157012517insTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.157012516_157012517insTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.156805207_156805210del, NC_000007.13:g.156805209_156805210del, NC_000007.13:g.156805210del, NC_000007.13:g.156805210dup, NC_000007.13:g.156805209_156805210dup, NC_000007.13:g.156805208_156805210dup, NC_000007.13:g.156805207_156805210dup, NC_000007.13:g.156805206_156805210dup, NC_000007.13:g.156805205_156805210dup, NC_000007.13:g.156805204_156805210dup, NC_000007.13:g.156805203_156805210dup, NC_000007.13:g.156805202_156805210dup, NC_000007.13:g.156805201_156805210dup, NC_000007.13:g.156805200_156805210dup, NC_000007.13:g.156805199_156805210dup, NC_000007.13:g.156805210_156805211insTTTTTTTTTTTTT, NC_000007.13:g.156805210_156805211insTTTTTTTTTTTTTTT, NC_000007.13:g.156805210_156805211insTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.156805210_156805211insTTTTTTTTTTTTTTTTTTTT, NG_013212.1:g.3146_3149del, NG_013212.1:g.3148_3149del, NG_013212.1:g.3149del, NG_013212.1:g.3149dup, NG_013212.1:g.3148_3149dup, NG_013212.1:g.3147_3149dup, NG_013212.1:g.3146_3149dup, NG_013212.1:g.3145_3149dup, NG_013212.1:g.3144_3149dup, NG_013212.1:g.3143_3149dup, NG_013212.1:g.3142_3149dup, NG_013212.1:g.3141_3149dup, NG_013212.1:g.3140_3149dup, NG_013212.1:g.3139_3149dup, NG_013212.1:g.3138_3149dup, NG_013212.1:g.3149_3150insAAAAAAAAAAAAA, NG_013212.1:g.3149_3150insAAAAAAAAAAAAAAA, NG_013212.1:g.3149_3150insAAAAAAAAAAAAAAAAAAA, NG_013212.1:g.3149_3150insAAAAAAAAAAAAAAAAAAAA

Select item 14910531304.

rs1491053130 has merged into rs35261453 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:157012661 (GRCh38)
7:156805355 (GRCh37)
Canonical SPDI:: NC_000007.14:157012650:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:157012650:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:157012650:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:157012650:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:157012650:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:157012650:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:157012650:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:157012650:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:157012650:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:157012650:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MNX1 (Varview), MNX1-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000007.14:g.157012661_157012667del, NC_000007.14:g.157012662_157012667del, NC_000007.14:g.157012664_157012667del, NC_000007.14:g.157012665_157012667del, NC_000007.14:g.157012666_157012667del, NC_000007.14:g.157012667del, NC_000007.14:g.157012667dup, NC_000007.14:g.157012666_157012667dup, NC_000007.14:g.157012665_157012667dup, NC_000007.14:g.157012658_157012667dup, NC_000007.13:g.156805355_156805361del, NC_000007.13:g.156805356_156805361del, NC_000007.13:g.156805358_156805361del, NC_000007.13:g.156805359_156805361del, NC_000007.13:g.156805360_156805361del, NC_000007.13:g.156805361del, NC_000007.13:g.156805361dup, NC_000007.13:g.156805360_156805361dup, NC_000007.13:g.156805359_156805361dup, NC_000007.13:g.156805352_156805361dup, NG_013212.1:g.2997_3003del, NG_013212.1:g.2998_3003del, NG_013212.1:g.3000_3003del, NG_013212.1:g.3001_3003del, NG_013212.1:g.3002_3003del, NG_013212.1:g.3003del, NG_013212.1:g.3003dup, NG_013212.1:g.3002_3003dup, NG_013212.1:g.3001_3003dup, NG_013212.1:g.2994_3003dup

Select item 14908744055.

rs1490874405 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:157004966 (GRCh38)
7:156797660 (GRCh37)
Canonical SPDI:: NC_000007.14:157004965:A:C
Gene:: MNX1 (Varview), MNX1-AS2 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.157004966A>C, NC_000007.13:g.156797660A>C, NG_013212.1:g.10688T>G, NM_005515.4:c.*554T>G, NM_005515.3:c.*554T>G, NM_001165255.2:c.*554T>G, NM_001165255.1:c.*554T>G

Select item 14907310766.

rs1490731076 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:157009612 (GRCh38)
7:156802306 (GRCh37)
Canonical SPDI:: NC_000007.14:157009611:G:A
Gene:: MNX1 (Varview), MNX1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.157009612G>A, NC_000007.13:g.156802306G>A, NG_013212.1:g.6042C>T

Select item 14905605197.

rs1490560519 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 7:157010919 (GRCh38)
7:156803613 (GRCh37)
Canonical SPDI:: NC_000007.14:157010918:T:
Gene:: MNX1 (Varview), MNX1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000007.14:g.157010919del, NC_000007.13:g.156803613del, NG_013212.1:g.4735del, NR_038835.1:n.63del

Select item 14903343398.

rs1490334339 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:157003567 (GRCh38)
7:156796261 (GRCh37)
Canonical SPDI:: NC_000007.14:157003566:T:A
HGVS:: NC_000007.14:g.157003567T>A, NC_000007.13:g.156796261T>A, NG_013212.1:g.12087A>T

Select item 14900932669.

rs1490093266 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:157003636 (GRCh38)
7:156796330 (GRCh37)
Canonical SPDI:: NC_000007.14:157003635:C:G
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.157003636C>G, NC_000007.13:g.156796330C>G, NG_013212.1:g.12018G>C

Select item 149005724010.

rs1490057240 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:157004419 (GRCh38)
7:156797113 (GRCh37)
Canonical SPDI:: NC_000007.14:157004418:G:A
Gene:: MNX1 (Varview), MNX1-AS2 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_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_000007.14:g.157004419G>A, NC_000007.13:g.156797113G>A, NG_013212.1:g.11235C>T

Select item 148979467011.

rs1489794670 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:157010035 (GRCh38)
7:156802729 (GRCh37)
Canonical SPDI:: NC_000007.14:157010034:T:C
Gene:: MNX1 (Varview), MNX1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000017/2 (GnomAD)
HGVS:: NC_000007.14:g.157010035T>C, NC_000007.13:g.156802729T>C, NG_013212.1:g.5619A>G, NM_005515.4:c.316A>G, NM_005515.3:c.316A>G, NP_005506.3:p.Thr106Ala

Select item 148942003912.

rs1489420039 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:157005643 (GRCh38)
7:156798337 (GRCh37)
Canonical SPDI:: NC_000007.14:157005642:G:A,NC_000007.14:157005642:G:C
Gene:: MNX1 (Varview), MNX1-AS2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.157005643G>A, NC_000007.14:g.157005643G>C, NC_000007.13:g.156798337G>A, NC_000007.13:g.156798337G>C, NG_013212.1:g.10011C>T, NG_013212.1:g.10011C>G, NM_005515.4:c.1083C>T, NM_005515.4:c.1083C>G, NM_005515.3:c.1083C>T, NM_005515.3:c.1083C>G, NM_001165255.2:c.447C>T, NM_001165255.2:c.447C>G, NM_001165255.1:c.447C>T, NM_001165255.1:c.447C>G, NP_005506.3:p.Asp361Glu, NP_001158727.1:p.Asp149Glu

Select item 148885930213.

rs1488859302 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:157008509 (GRCh38)
7:156801203 (GRCh37)
Canonical SPDI:: NC_000007.14:157008508:C:T
Gene:: MNX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.157008509C>T, NC_000007.13:g.156801203C>T, NG_013212.1:g.7145G>A

Select item 148811048814.

rs1488110488 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:157004527 (GRCh38)
7:156797221 (GRCh37)
Canonical SPDI:: NC_000007.14:157004526:T:C
Gene:: MNX1 (Varview), MNX1-AS2 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.157004527T>C, NC_000007.13:g.156797221T>C, NG_013212.1:g.11127A>G

Select item 148810154815.

rs1488101548 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 7:157014696 (GRCh38)
7:156807390 (GRCh37)
Canonical SPDI:: NC_000007.14:157014695:A:G,NC_000007.14:157014695:A:T
Gene:: MNX1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
T=0.001667/1 (NorthernSweden)
HGVS:: NC_000007.14:g.157014696A>G, NC_000007.14:g.157014696A>T, NC_000007.13:g.156807390A>G, NC_000007.13:g.156807390A>T, NG_013212.1:g.958T>C, NG_013212.1:g.958T>A

Select item 148780407516.

rs1487804075 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:157006873 (GRCh38)
7:156799567 (GRCh37)
Canonical SPDI:: NC_000007.14:157006872:C:T
Gene:: MNX1 (Varview), MNX1-AS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00008/1 (ALFA)
T=0.00057/9 (TOMMO)
T=0.01115/6 (NorthernSweden)
T=0.02498/73 (KOREAN)
HGVS:: NC_000007.14:g.157006873C>T, NC_000007.13:g.156799567C>T, NG_013212.1:g.8781G>A

Select item 148756409117.

rs1487564091 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 7:157008627 (GRCh38)
7:156801321 (GRCh37)
Canonical SPDI:: NC_000007.14:157008625:TCT:T
Gene:: MNX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.157008627_157008628del, NC_000007.13:g.156801321_156801322del, NG_013212.1:g.7027_7028del

Select item 148749156918.

rs1487491569 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:157009417 (GRCh38)
7:156802111 (GRCh37)
Canonical SPDI:: NC_000007.14:157009416:G:A
Gene:: MNX1 (Varview), MNX1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000007.14:g.157009417G>A, NC_000007.13:g.156802111G>A, NG_013212.1:g.6237C>T, NM_001165255.2:c.-365C>T, NM_001165255.1:c.-365C>T

Select item 148747383719.

rs1487473837 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:157009179 (GRCh38)
7:156801873 (GRCh37)
Canonical SPDI:: NC_000007.14:157009178:C:T
Gene:: MNX1 (Varview), MNX1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.157009179C>T, NC_000007.13:g.156801873C>T, NG_013212.1:g.6475G>A, NM_001165255.2:c.-127G>A, NM_001165255.1:c.-127G>A

Select item 148728443320.

rs1487284433 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 7:157010052 (GRCh38)
7:156802746 (GRCh37)
Canonical SPDI:: NC_000007.14:157010051:CCC:CC
Gene:: MNX1 (Varview), MNX1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,frameshift_variant
HGVS:: NC_000007.14:g.157010054del, NC_000007.13:g.156802748del, NG_013212.1:g.5602del, NM_005515.4:c.299del, NM_005515.3:c.299del, NP_005506.3:p.Gly100fs

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