SNP Links for Gene (Select 574435) - SNP

Links from Gene

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Select item 14914856011.

rs1491485601 has merged into rs1181314625 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGGTGGTG>-,GTG,GTGGTG,GTGGTGGTGGTG,GTGGTGGTGGTGGTG,GTGGTGGTGGTGGTGGTG [Show Flanks]
Chromosome:: 14:101038536 (GRCh38)
14:101504873 (GRCh37)
Canonical SPDI:: NC_000014.9:101038530:TGGTGGTGGTGGTG:TGGTG,NC_000014.9:101038530:TGGTGGTGGTGGTG:TGGTGGTG,NC_000014.9:101038530:TGGTGGTGGTGGTG:TGGTGGTGGTG,NC_000014.9:101038530:TGGTGGTGGTGGTG:TGGTGGTGGTGGTGGTG,NC_000014.9:101038530:TGGTGGTGGTGGTG:TGGTGGTGGTGGTGGTGGTG,NC_000014.9:101038530:TGGTGGTGGTGGTG:TGGTGGTGGTGGTGGTGGTGGTG
Gene:: MIR376C (Varview), MIR376B (Varview), MIR376A2 (Varview), MIR654 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGGTGGTG=0./0 (ALFA)
TGGTGG=0.00439/57 (TOMMO)
HGVS:: NC_000014.9:g.101038533GTG[1], NC_000014.9:g.101038533GTG[2], NC_000014.9:g.101038533GTG[3], NC_000014.9:g.101038533GTG[5], NC_000014.9:g.101038533GTG[6], NC_000014.9:g.101038533GTG[7], NC_000014.8:g.101504870GTG[1], NC_000014.8:g.101504870GTG[2], NC_000014.8:g.101504870GTG[3], NC_000014.8:g.101504870GTG[5], NC_000014.8:g.101504870GTG[6], NC_000014.8:g.101504870GTG[7], NG_045000.6:g.207265GTG[1], NG_045000.6:g.207265GTG[2], NG_045000.6:g.207265GTG[3], NG_045000.6:g.207265GTG[5], NG_045000.6:g.207265GTG[6], NG_045000.6:g.207265GTG[7]

Select item 14913994732.

rs1491399473 [Homo sapiens]

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

Select item 14913898173.

rs1491389817 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 14:101038530 (GRCh38)
14:101504867 (GRCh37)
Canonical SPDI:: NC_000014.9:101038529:AT:
Gene:: MIR376C (Varview), MIR376B (Varview), MIR376A2 (Varview), MIR654 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: -=0.00028/8 (GnomAD)
HGVS:: NC_000014.9:g.101038530_101038531del, NC_000014.8:g.101504867_101504868del, NG_045000.6:g.207262_207263del

Select item 14913108114.

rs1491310811 has merged into rs200030531 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 14:101039070 (GRCh38)
14:101505407 (GRCh37)
Canonical SPDI:: NC_000014.9:101039054:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:101039054:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:101039054:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:101039054:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:101039054:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:101039054:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:101039054:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:101039054:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:101039054:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:101039054:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MIR376C (Varview), MIR376A1 (Varview), MIR376B (Varview), MIR376A2 (Varview), MIR654 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000014.9:g.101039070_101039073del, NC_000014.9:g.101039071_101039073del, NC_000014.9:g.101039072_101039073del, NC_000014.9:g.101039073del, NC_000014.9:g.101039073dup, NC_000014.9:g.101039072_101039073dup, NC_000014.9:g.101039071_101039073dup, NC_000014.9:g.101039055_101039073T[22]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.9:g.101039068_101039073dup, NC_000014.9:g.101039055_101039073T[40]ATTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.8:g.101505407_101505410del, NC_000014.8:g.101505408_101505410del, NC_000014.8:g.101505409_101505410del, NC_000014.8:g.101505410del, NC_000014.8:g.101505410dup, NC_000014.8:g.101505409_101505410dup, NC_000014.8:g.101505408_101505410dup, NC_000014.8:g.101505392_101505410T[22]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.8:g.101505405_101505410dup, NC_000014.8:g.101505392_101505410T[40]ATTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_045000.6:g.207802_207805del, NG_045000.6:g.207803_207805del, NG_045000.6:g.207804_207805del, NG_045000.6:g.207805del, NG_045000.6:g.207805dup, NG_045000.6:g.207804_207805dup, NG_045000.6:g.207803_207805dup, NG_045000.6:g.207787_207805T[22]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_045000.6:g.207800_207805dup, NG_045000.6:g.207787_207805T[40]ATTTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 14910227605.

rs1491022760 [Homo sapiens]

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

Select item 14908765066.

rs1490876506 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACTGATGGT>- [Show Flanks]
Chromosome:: 14:101038526 (GRCh38)
14:101504863 (GRCh37)
Canonical SPDI:: NC_000014.9:101038521:TGGTACTGATGGT:TGGT
Gene:: MIR376C (Varview), MIR376B (Varview), MIR376A2 (Varview), MIR654 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TGGT=0.00051/6 (ALFA)
-=0.00006/2 (GnomAD)
HGVS:: NC_000014.9:g.101038526_101038534del, NC_000014.8:g.101504863_101504871del, NG_045000.6:g.207258_207266del

Select item 14900882927.

rs1490088292 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:101039079 (GRCh38)
14:101505416 (GRCh37)
Canonical SPDI:: NC_000014.9:101039078:T:C
Gene:: MIR376C (Varview), MIR376A1 (Varview), MIR376B (Varview), MIR376A2 (Varview), MIR654 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/2 (GnomAD)
HGVS:: NC_000014.9:g.101039079T>C, NC_000014.8:g.101505416T>C, NG_045000.6:g.207811T>C

Select item 14895934228.

rs1489593422 [Homo sapiens]

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

Select item 14894580179.

rs1489458017 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:101040591 (GRCh38)
14:101506928 (GRCh37)
Canonical SPDI:: NC_000014.9:101040590:G:A
Gene:: MIR376A1 (Varview), MIR376B (Varview), MIR376A2 (Varview), MIR654 (Varview), MIR300 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000014.9:g.101040591G>A, NC_000014.8:g.101506928G>A, NG_045000.6:g.209323G>A

Select item 148917633110.

rs1489176331 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:101038613 (GRCh38)
14:101504950 (GRCh37)
Canonical SPDI:: NC_000014.9:101038612:G:A,NC_000014.9:101038612:G:T
Gene:: MIR376C (Varview), MIR376B (Varview), MIR376A2 (Varview), MIR654 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00018/3 (TOMMO)
A=0.02555/72 (KOREAN)
G=0.5/2 (SGDP_PRJ)
HGVS:: NC_000014.9:g.101038613G>A, NC_000014.9:g.101038613G>T, NC_000014.8:g.101504950G>A, NC_000014.8:g.101504950G>T, NG_045000.6:g.207345G>A, NG_045000.6:g.207345G>T

Select item 148898505511.

rs1488985055 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 14:101039187 (GRCh38)
14:101505524 (GRCh37)
Canonical SPDI:: NC_000014.9:101039186:G:A,NC_000014.9:101039186:G:C,NC_000014.9:101039186:G:T
Gene:: MIR376C (Varview), MIR376A1 (Varview), MIR376B (Varview), MIR376A2 (Varview), MIR654 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
C=0.000156/1 (1000Genomes)
A=0.000212/4 (TOMMO)
HGVS:: NC_000014.9:g.101039187G>A, NC_000014.9:g.101039187G>C, NC_000014.9:g.101039187G>T, NC_000014.8:g.101505524G>A, NC_000014.8:g.101505524G>C, NC_000014.8:g.101505524G>T, NG_045000.6:g.207919G>A, NG_045000.6:g.207919G>C, NG_045000.6:g.207919G>T

Select item 148861476512.

rs1488614765 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 14:101038666 (GRCh38)
14:101505003 (GRCh37)
Canonical SPDI:: NC_000014.9:101038665:A:
Gene:: MIR376C (Varview), MIR376B (Varview), MIR376A2 (Varview), MIR654 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00007/2 (TOMMO)
HGVS:: NC_000014.9:g.101038666del, NC_000014.8:g.101505003del, NG_045000.6:g.207398del

Select item 148853367113.

rs1488533671 has merged into rs200030531 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 14:101039070 (GRCh38)
14:101505407 (GRCh37)
Canonical SPDI:: NC_000014.9:101039054:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:101039054:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:101039054:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:101039054:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:101039054:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:101039054:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:101039054:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:101039054:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:101039054:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:101039054:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MIR376C (Varview), MIR376A1 (Varview), MIR376B (Varview), MIR376A2 (Varview), MIR654 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000014.9:g.101039070_101039073del, NC_000014.9:g.101039071_101039073del, NC_000014.9:g.101039072_101039073del, NC_000014.9:g.101039073del, NC_000014.9:g.101039073dup, NC_000014.9:g.101039072_101039073dup, NC_000014.9:g.101039071_101039073dup, NC_000014.9:g.101039055_101039073T[22]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.9:g.101039068_101039073dup, NC_000014.9:g.101039055_101039073T[40]ATTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.8:g.101505407_101505410del, NC_000014.8:g.101505408_101505410del, NC_000014.8:g.101505409_101505410del, NC_000014.8:g.101505410del, NC_000014.8:g.101505410dup, NC_000014.8:g.101505409_101505410dup, NC_000014.8:g.101505408_101505410dup, NC_000014.8:g.101505392_101505410T[22]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.8:g.101505405_101505410dup, NC_000014.8:g.101505392_101505410T[40]ATTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_045000.6:g.207802_207805del, NG_045000.6:g.207803_207805del, NG_045000.6:g.207804_207805del, NG_045000.6:g.207805del, NG_045000.6:g.207805dup, NG_045000.6:g.207804_207805dup, NG_045000.6:g.207803_207805dup, NG_045000.6:g.207787_207805T[22]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_045000.6:g.207800_207805dup, NG_045000.6:g.207787_207805T[40]ATTTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 148740404714.

rs1487404047 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:101039543 (GRCh38)
14:101505880 (GRCh37)
Canonical SPDI:: NC_000014.9:101039542:C:A
Gene:: MIR376C (Varview), MIR376A1 (Varview), MIR376B (Varview), MIR376A2 (Varview), MIR654 (Varview), MIR300 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000014.9:g.101039543C>A, NC_000014.8:g.101505880C>A, NG_045000.6:g.208275C>A

Select item 148573543115.

rs1485735431 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:101039795 (GRCh38)
14:101506132 (GRCh37)
Canonical SPDI:: NC_000014.9:101039794:C:T
Gene:: MIR376C (Varview), MIR376A1 (Varview), MIR376B (Varview), MIR376A2 (Varview), MIR654 (Varview), MIR300 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.101039795C>T, NC_000014.8:g.101506132C>T, NG_045000.6:g.208527C>T

Select item 148383672816.

rs1483836728 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 14:101038482 (GRCh38)
14:101504819 (GRCh37)
Canonical SPDI:: NC_000014.9:101038481:G:A,NC_000014.9:101038481:G:C,NC_000014.9:101038481:G:T
Gene:: MIR376C (Varview), MIR376B (Varview), MIR376A2 (Varview), MIR654 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.00429/12 (KOREAN)
C=0.33333/2 (SGDP_PRJ)
HGVS:: NC_000014.9:g.101038482G>A, NC_000014.9:g.101038482G>C, NC_000014.9:g.101038482G>T, NC_000014.8:g.101504819G>A, NC_000014.8:g.101504819G>C, NC_000014.8:g.101504819G>T, NG_045000.6:g.207214G>A, NG_045000.6:g.207214G>C, NG_045000.6:g.207214G>T

Select item 148313831117.

rs1483138311 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:101040572 (GRCh38)
14:101506909 (GRCh37)
Canonical SPDI:: NC_000014.9:101040571:A:G
Gene:: MIR376A1 (Varview), MIR376B (Varview), MIR376A2 (Varview), MIR654 (Varview), MIR300 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.101040572A>G, NC_000014.8:g.101506909A>G, NG_045000.6:g.209304A>G

Select item 148257920518.

rs1482579205 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 14:101040302 (GRCh38)
14:101506639 (GRCh37)
Canonical SPDI:: NC_000014.9:101040301:TTT:TT
Gene:: MIR376A1 (Varview), MIR376B (Varview), MIR376A2 (Varview), MIR654 (Varview), MIR300 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TT=0.000111/1 (ALFA)
-=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.101040304del, NC_000014.8:g.101506641del, NG_045000.6:g.209036del

Select item 148225153419.

rs1482251534 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:101040813 (GRCh38)
14:101507150 (GRCh37)
Canonical SPDI:: NC_000014.9:101040812:T:G
Gene:: MIR376A1 (Varview), MIR376B (Varview), MIR300 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant
HGVS:: NC_000014.9:g.101040813T>G, NC_000014.8:g.101507150T>G, NG_045000.6:g.209545T>G, NR_029868.1:n.32T>G

Select item 148068119420.

rs1480681194 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:101040821 (GRCh38)
14:101507158 (GRCh37)
Canonical SPDI:: NC_000014.9:101040820:A:G
Gene:: MIR376A1 (Varview), MIR376B (Varview), MIR300 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant
HGVS:: NC_000014.9:g.101040821A>G, NC_000014.8:g.101507158A>G, NG_045000.6:g.209553A>G, NR_029868.1:n.40A>G

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