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Select item 14910767551.

rs1491076755 has merged into rs3049036 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:49418504 (GRCh38)
3:49455937 (GRCh37)
Canonical SPDI:: NC_000003.12:49418494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:49418494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:49418494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:49418494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:49418494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:49418494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:49418494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:49418494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:49418494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:49418494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:49418494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:49418494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:49418494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:49418494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:49418494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:49418494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:49418494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:49418494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:49418494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:49418494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:49418494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:49418494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:49418494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:49418494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:49418494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:49418494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:49418494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:49418494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:49418494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:49418494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: AMT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.49418504_49418518del, NC_000003.12:g.49418505_49418518del, NC_000003.12:g.49418506_49418518del, NC_000003.12:g.49418507_49418518del, NC_000003.12:g.49418508_49418518del, NC_000003.12:g.49418509_49418518del, NC_000003.12:g.49418510_49418518del, NC_000003.12:g.49418511_49418518del, NC_000003.12:g.49418512_49418518del, NC_000003.12:g.49418513_49418518del, NC_000003.12:g.49418514_49418518del, NC_000003.12:g.49418515_49418518del, NC_000003.12:g.49418516_49418518del, NC_000003.12:g.49418517_49418518del, NC_000003.12:g.49418518del, NC_000003.12:g.49418518dup, NC_000003.12:g.49418517_49418518dup, NC_000003.12:g.49418516_49418518dup, NC_000003.12:g.49418515_49418518dup, NC_000003.12:g.49418514_49418518dup, NC_000003.12:g.49418513_49418518dup, NC_000003.12:g.49418512_49418518dup, NC_000003.12:g.49418511_49418518dup, NC_000003.12:g.49418510_49418518dup, NC_000003.12:g.49418509_49418518dup, NC_000003.12:g.49418508_49418518dup, NC_000003.12:g.49418507_49418518dup, NC_000003.12:g.49418506_49418518dup, NC_000003.12:g.49418505_49418518dup, NC_000003.12:g.49418518_49418519insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.49455937_49455951del, NC_000003.11:g.49455938_49455951del, NC_000003.11:g.49455939_49455951del, NC_000003.11:g.49455940_49455951del, NC_000003.11:g.49455941_49455951del, NC_000003.11:g.49455942_49455951del, NC_000003.11:g.49455943_49455951del, NC_000003.11:g.49455944_49455951del, NC_000003.11:g.49455945_49455951del, NC_000003.11:g.49455946_49455951del, NC_000003.11:g.49455947_49455951del, NC_000003.11:g.49455948_49455951del, NC_000003.11:g.49455949_49455951del, NC_000003.11:g.49455950_49455951del, NC_000003.11:g.49455951del, NC_000003.11:g.49455951dup, NC_000003.11:g.49455950_49455951dup, NC_000003.11:g.49455949_49455951dup, NC_000003.11:g.49455948_49455951dup, NC_000003.11:g.49455947_49455951dup, NC_000003.11:g.49455946_49455951dup, NC_000003.11:g.49455945_49455951dup, NC_000003.11:g.49455944_49455951dup, NC_000003.11:g.49455943_49455951dup, NC_000003.11:g.49455942_49455951dup, NC_000003.11:g.49455941_49455951dup, NC_000003.11:g.49455940_49455951dup, NC_000003.11:g.49455939_49455951dup, NC_000003.11:g.49455938_49455951dup, NC_000003.11:g.49455951_49455952insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_015986.1:g.9170_9184del, NG_015986.1:g.9171_9184del, NG_015986.1:g.9172_9184del, NG_015986.1:g.9173_9184del, NG_015986.1:g.9174_9184del, NG_015986.1:g.9175_9184del, NG_015986.1:g.9176_9184del, NG_015986.1:g.9177_9184del, NG_015986.1:g.9178_9184del, NG_015986.1:g.9179_9184del, NG_015986.1:g.9180_9184del, NG_015986.1:g.9181_9184del, NG_015986.1:g.9182_9184del, NG_015986.1:g.9183_9184del, NG_015986.1:g.9184del, NG_015986.1:g.9184dup, NG_015986.1:g.9183_9184dup, NG_015986.1:g.9182_9184dup, NG_015986.1:g.9181_9184dup, NG_015986.1:g.9180_9184dup, NG_015986.1:g.9179_9184dup, NG_015986.1:g.9178_9184dup, NG_015986.1:g.9177_9184dup, NG_015986.1:g.9176_9184dup, NG_015986.1:g.9175_9184dup, NG_015986.1:g.9174_9184dup, NG_015986.1:g.9173_9184dup, NG_015986.1:g.9172_9184dup, NG_015986.1:g.9171_9184dup, NG_015986.1:g.9184_9185insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14906932412.

rs1490693241 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:49416447 (GRCh38)
3:49453880 (GRCh37)
Canonical SPDI:: NC_000003.12:49416446:A:G
Gene:: AMT (Varview), TCTA (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.49416447A>G, NC_000003.11:g.49453880A>G, NG_051308.1:g.651T>C, NG_015986.1:g.11232T>C, NM_022171.3:c.*1585A>G, NM_022171.2:c.*1585A>G

Select item 14904596883.

rs1490459688 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:49423964 (GRCh38)
3:49461397 (GRCh37)
Canonical SPDI:: NC_000003.12:49423963:C:T
Gene:: AMT (Varview), NICN1 (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.49423964C>T, NC_000003.11:g.49461397C>T, NG_033046.1:g.10361G>A, NM_032316.3:c.*869G>A, NG_015986.1:g.3715G>A

Select item 14904513404.

rs1490451340 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:49418088 (GRCh38)
3:49455521 (GRCh37)
Canonical SPDI:: NC_000003.12:49418087:C:T
Gene:: AMT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.49418088C>T, NC_000003.11:g.49455521C>T, NG_015986.1:g.9591G>A

Select item 14901210455.

rs1490121045 [Homo sapiens]

Variant type:: DEL
Alleles:: GTT>- [Show Flanks]
Chromosome:: 3:49419924 (GRCh38)
3:49457357 (GRCh37)
Canonical SPDI:: NC_000003.12:49419923:GTT:
Gene:: AMT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000038/10 (TOPMED)
HGVS:: NC_000003.12:g.49419924_49419926del, NC_000003.11:g.49457357_49457359del, NG_015986.1:g.7753_7755del

Select item 14899569846.

rs1489956984 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:49418726 (GRCh38)
3:49456159 (GRCh37)
Canonical SPDI:: NC_000003.12:49418725:T:C
Gene:: AMT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000132/2 (ALFA)
C=0.000015/2 (GnomAD)
C=0.000446/2 (Estonian)
C=0.000531/9 (TOMMO)
HGVS:: NC_000003.12:g.49418726T>C, NC_000003.11:g.49456159T>C, NG_015986.1:g.8953A>G

Select item 14898921847.

rs1489892184 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:49418128 (GRCh38)
3:49455561 (GRCh37)
Canonical SPDI:: NC_000003.12:49418127:A:G
Gene:: AMT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.49418128A>G, NC_000003.11:g.49455561A>G, NG_015986.1:g.9551T>C

Select item 14897783568.

rs1489778356 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:49423369 (GRCh38)
3:49460802 (GRCh37)
Canonical SPDI:: NC_000003.12:49423368:C:G
Gene:: AMT (Varview), NICN1 (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.49423369C>G, NC_000003.11:g.49460802C>G, NG_033046.1:g.10956G>C, NM_032316.3:c.*1464G>C, NG_015986.1:g.4310G>C

Select item 14891526009.

rs1489152600 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:49417549 (GRCh38)
3:49454982 (GRCh37)
Canonical SPDI:: NC_000003.12:49417548:G:A
Gene:: AMT (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.49417549G>A, NC_000003.11:g.49454982G>A, NG_015986.1:g.10130C>T, NM_000481.4:c.1203C>T, NM_000481.3:c.1203C>T, NR_028435.2:n.1212C>T, NR_028435.1:n.1417C>T, NM_001164710.2:c.1071C>T, NM_001164710.1:c.1071C>T, NM_001164711.2:c.1035C>T, NM_001164711.1:c.1035C>T

Select item 148909329910.

rs1489093299 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:49423483 (GRCh38)
3:49460916 (GRCh37)
Canonical SPDI:: NC_000003.12:49423482:G:A
Gene:: AMT (Varview), NICN1 (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.00003/8 (TOPMED)
A=0.000057/8 (GnomAD)
A=0.00006/1 (TOMMO)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000003.12:g.49423483G>A, NC_000003.11:g.49460916G>A, NG_033046.1:g.10842C>T, NM_032316.3:c.*1350C>T, NG_015986.1:g.4196C>T

Select item 148835751311.

rs1488357513 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTT>- [Show Flanks]
Chromosome:: 3:49418494 (GRCh38)
3:49455927 (GRCh37)
Canonical SPDI:: NC_000003.12:49418490:TTTCTTT:TTT
Gene:: AMT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
-=0.00006/4 (GnomAD)
HGVS:: NC_000003.12:g.49418494_49418497del, NC_000003.11:g.49455927_49455930del, NG_015986.1:g.9185_9188del

Select item 148798623412.

rs1487986234 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:49417878 (GRCh38)
3:49455311 (GRCh37)
Canonical SPDI:: NC_000003.12:49417877:A:G
Gene:: AMT (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.49417878A>G, NC_000003.11:g.49455311A>G, NG_015986.1:g.9801T>C, NM_000481.4:c.973T>C, NM_000481.3:c.973T>C, NR_028435.2:n.982T>C, NR_028435.1:n.1187T>C, NM_001164710.2:c.841T>C, NM_001164710.1:c.841T>C, NM_001164711.2:c.805T>C, NM_001164711.1:c.805T>C, NM_001164712.2:c.973T>C, NM_001164712.1:c.973T>C, NP_000472.2:p.Cys325Arg, NP_001158182.1:p.Cys281Arg, NP_001158183.1:p.Cys269Arg, NP_001158184.1:p.Cys325Arg

Select item 148781171713.

rs1487811717 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:49420232 (GRCh38)
3:49457665 (GRCh37)
Canonical SPDI:: NC_000003.12:49420231:C:G
Gene:: AMT (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.49420232C>G, NC_000003.11:g.49457665C>G, NG_015986.1:g.7447G>C, NM_000481.4:c.450G>C, NM_000481.3:c.450G>C, NR_028435.2:n.459G>C, NR_028435.1:n.664G>C, NM_001164711.2:c.282G>C, NM_001164711.1:c.282G>C, NM_001164712.2:c.450G>C, NM_001164712.1:c.450G>C, NP_000472.2:p.Glu150Asp, NP_001158183.1:p.Glu94Asp, NP_001158184.1:p.Glu150Asp

Select item 148668433014.

rs1486684330 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:49421607 (GRCh38)
3:49459040 (GRCh37)
Canonical SPDI:: NC_000003.12:49421606:A:G
Gene:: AMT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.49421607A>G, NC_000003.11:g.49459040A>G, NG_033046.1:g.12718T>C, NG_015986.1:g.6072T>C

Select item 148648933715.

rs1486489337 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:49424343 (GRCh38)
3:49461776 (GRCh37)
Canonical SPDI:: NC_000003.12:49424342:C:T
Gene:: AMT (Varview), NICN1 (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.49424343C>T, NC_000003.11:g.49461776C>T, NG_033046.1:g.9982G>A, NM_032316.3:c.*490G>A, NG_015986.1:g.3336G>A

Select item 148647902316.

rs1486479023 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 3:49423221 (GRCh38)
3:49460654 (GRCh37)
Canonical SPDI:: NC_000003.12:49423220:A:G,NC_000003.12:49423220:A:T
Gene:: AMT (Varview), NICN1 (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.49423221A>G, NC_000003.12:g.49423221A>T, NC_000003.11:g.49460654A>G, NC_000003.11:g.49460654A>T, NG_033046.1:g.11104T>C, NG_033046.1:g.11104T>A, NM_032316.3:c.*1612T>C, NM_032316.3:c.*1612T>A, NG_015986.1:g.4458T>C, NG_015986.1:g.4458T>A

Select item 148617326717.

rs1486173267 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:49420722 (GRCh38)
3:49458155 (GRCh37)
Canonical SPDI:: NC_000003.12:49420721:G:C
Gene:: AMT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.49420722G>C, NC_000003.11:g.49458155G>C, NG_033046.1:g.13603C>G, NG_015986.1:g.6957C>G

Select item 148573842218.

rs1485738422 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:49422054 (GRCh38)
3:49459487 (GRCh37)
Canonical SPDI:: NC_000003.12:49422053:A:G
Gene:: AMT (Varview), NICN1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.49422054A>G, NC_000003.11:g.49459487A>G, NG_033046.1:g.12271T>C, NG_015986.1:g.5625T>C

Select item 148527014919.

rs1485270149 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:49422268 (GRCh38)
3:49459701 (GRCh37)
Canonical SPDI:: NC_000003.12:49422267:C:G,NC_000003.12:49422267:C:T
Gene:: AMT (Varview), NICN1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,downstream_transcript_variant,missense_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.49422268C>G, NC_000003.12:g.49422268C>T, NC_000003.11:g.49459701C>G, NC_000003.11:g.49459701C>T, NG_033046.1:g.12057G>C, NG_033046.1:g.12057G>A, NG_015986.1:g.5411G>C, NG_015986.1:g.5411G>A, NM_000481.4:c.94G>C, NM_000481.4:c.94G>A, NM_000481.3:c.94G>C, NM_000481.3:c.94G>A, NM_001164710.2:c.94G>C, NM_001164710.2:c.94G>A, NM_001164710.1:c.94G>C, NM_001164710.1:c.94G>A, NM_001164712.2:c.94G>C, NM_001164712.2:c.94G>A, NM_001164712.1:c.94G>C, NM_001164712.1:c.94G>A, NP_000472.2:p.Val32Leu, NP_000472.2:p.Val32Met, NP_001158182.1:p.Val32Leu, NP_001158182.1:p.Val32Met, NP_001158184.1:p.Val32Leu, NP_001158184.1:p.Val32Met

Select item 148476412820.

rs1484764128 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:49417779 (GRCh38)
3:49455212 (GRCh37)
Canonical SPDI:: NC_000003.12:49417778:G:C
Gene:: AMT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.49417779G>C, NC_000003.11:g.49455212G>C, NG_015986.1:g.9900C>G

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