SNP Links for Gene (Select 131583) - SNP

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Links from Gene

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Select item 14907871831.

rs1490787183 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:194686202 (GRCh38)
3:194406931 (GRCh37)
Canonical SPDI:: NC_000003.12:194686201:C:T
Gene:: FAM43A (Varview), LOC124909474 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.194686202C>T, NC_000003.11:g.194406931C>T, NM_153690.5:c.-625C>T, NM_153690.4:c.-625C>T, XM_047449428.1:c.52G>A, XP_047305384.1:p.Ala18Thr

Select item 14895557102.

rs1489555710 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:194688267 (GRCh38)
3:194408996 (GRCh37)
Canonical SPDI:: NC_000003.12:194688266:G:C
Gene:: FAM43A (Varview), LOC124909474 (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.194688267G>C, NC_000003.11:g.194408996G>C, NM_153690.5:c.*169G>C, NM_153690.4:c.*169G>C

Select item 14888065983.

rs1488806598 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:194687271 (GRCh38)
3:194408000 (GRCh37)
Canonical SPDI:: NC_000003.12:194687270:C:T
Gene:: FAM43A (Varview), LOC124909474 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.194687271C>T, NC_000003.11:g.194408000C>T, NM_153690.5:c.445C>T, NM_153690.4:c.445C>T

Select item 14886406354.

rs1488640635 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:194684832 (GRCh38)
3:194405561 (GRCh37)
Canonical SPDI:: NC_000003.12:194684831:G:C
Gene:: FAM43A (Varview), LOC124909474 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.194684832G>C, NC_000003.11:g.194405561G>C

Select item 14878064715.

rs1487806471 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:194687838 (GRCh38)
3:194408567 (GRCh37)
Canonical SPDI:: NC_000003.12:194687837:C:T
Gene:: FAM43A (Varview), LOC124909474 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.194687838C>T, NC_000003.11:g.194408567C>T, NM_153690.5:c.1012C>T, NM_153690.4:c.1012C>T, NP_710157.2:p.Pro338Ser

Select item 14857506066.

rs1485750606 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:194686844 (GRCh38)
3:194407573 (GRCh37)
Canonical SPDI:: NC_000003.12:194686843:G:A,NC_000003.12:194686843:G:T
Gene:: FAM43A (Varview), LOC124909474 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000041/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000005/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.194686844G>A, NC_000003.12:g.194686844G>T, NC_000003.11:g.194407573G>A, NC_000003.11:g.194407573G>T, NM_153690.5:c.18G>A, NM_153690.5:c.18G>T, NM_153690.4:c.18G>A, NM_153690.4:c.18G>T, XM_047449428.1:c.-591C>T, XM_047449428.1:c.-591C>A, NP_710157.2:p.Lys6Asn

Select item 14848767497.

rs1484876749 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:194684683 (GRCh38)
3:194405412 (GRCh37)
Canonical SPDI:: NC_000003.12:194684682:A:C
Gene:: FAM43A (Varview), LOC124909474 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.194684683A>C, NC_000003.11:g.194405412A>C

Select item 14846747328.

rs1484674732 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:194687392 (GRCh38)
3:194408121 (GRCh37)
Canonical SPDI:: NC_000003.12:194687391:A:G
Gene:: FAM43A (Varview), LOC124909474 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000003.12:g.194687392A>G, NC_000003.11:g.194408121A>G, NM_153690.5:c.566A>G, NM_153690.4:c.566A>G, NP_710157.2:p.Tyr189Cys

Select item 14841815139.

rs1484181513 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:194687369 (GRCh38)
3:194408098 (GRCh37)
Canonical SPDI:: NC_000003.12:194687368:G:T
Gene:: FAM43A (Varview), LOC124909474 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000037/5 (GnomAD_exomes)
T=0.000156/1 (1000Genomes)
T=0.00046/8 (TOMMO)
T=0.001371/4 (KOREAN)
T=0.00165/3 (Korea1K)
HGVS:: NC_000003.12:g.194687369G>T, NC_000003.11:g.194408098G>T, NM_153690.5:c.543G>T, NM_153690.4:c.543G>T

Select item 148414166310.

rs1484141663 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:194688442 (GRCh38)
3:194409171 (GRCh37)
Canonical SPDI:: NC_000003.12:194688441:G:A
Gene:: FAM43A (Varview), LOC124909474 (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=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.194688442G>A, NC_000003.11:g.194409171G>A, NM_153690.5:c.*344G>A, NM_153690.4:c.*344G>A

Select item 148412895711.

rs1484128957 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 3:194684355 (GRCh38)
3:194405084 (GRCh37)
Canonical SPDI:: NC_000003.12:194684354:C:A,NC_000003.12:194684354:C:G
Gene:: FAM43A (Varview), LOC124909474 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.194684355C>A, NC_000003.12:g.194684355C>G, NC_000003.11:g.194405084C>A, NC_000003.11:g.194405084C>G

Select item 148404966212.

rs1484049662 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:194686748 (GRCh38)
3:194407477 (GRCh37)
Canonical SPDI:: NC_000003.12:194686747:G:A,NC_000003.12:194686747:G:C
Gene:: FAM43A (Varview), LOC124909474 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.194686748G>A, NC_000003.12:g.194686748G>C, NC_000003.11:g.194407477G>A, NC_000003.11:g.194407477G>C, NM_153690.5:c.-79G>A, NM_153690.5:c.-79G>C, NM_153690.4:c.-79G>A, NM_153690.4:c.-79G>C, XM_047449428.1:c.-495C>T, XM_047449428.1:c.-495C>G

Select item 148378928813.

rs1483789288 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 3:194687444 (GRCh38)
3:194408173 (GRCh37)
Canonical SPDI:: NC_000003.12:194687443:C:A,NC_000003.12:194687443:C:G
Gene:: FAM43A (Varview), LOC124909474 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000007/1 (GnomAD_exomes)
G=0.000531/9 (TOMMO)
HGVS:: NC_000003.12:g.194687444C>A, NC_000003.12:g.194687444C>G, NC_000003.11:g.194408173C>A, NC_000003.11:g.194408173C>G, NM_153690.5:c.618C>A, NM_153690.5:c.618C>G, NM_153690.4:c.618C>A, NM_153690.4:c.618C>G, NP_710157.2:p.Asp206Glu, NP_710157.2:p.Asp206Glu

Select item 148344929514.

rs1483449295 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:194689270 (GRCh38)
3:194409999 (GRCh37)
Canonical SPDI:: NC_000003.12:194689269:T:G
Gene:: FAM43A (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
HGVS:: NC_000003.12:g.194689270T>G, NC_000003.11:g.194409999T>G

Select item 148306699115.

rs1483066991 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:194685924 (GRCh38)
3:194406653 (GRCh37)
Canonical SPDI:: NC_000003.12:194685923:G:A
Gene:: FAM43A (Varview), LOC124909474 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.194685924G>A, NC_000003.11:g.194406653G>A, NM_153690.5:c.-903G>A, NM_153690.4:c.-903G>A, XM_047449428.1:c.330C>T

Select item 148271557716.

rs1482715577 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:194688171 (GRCh38)
3:194408900 (GRCh37)
Canonical SPDI:: NC_000003.12:194688170:C:T
Gene:: FAM43A (Varview), LOC124909474 (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.194688171C>T, NC_000003.11:g.194408900C>T, NM_153690.5:c.*73C>T, NM_153690.4:c.*73C>T

Select item 148249631117.

rs1482496311 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:194684975 (GRCh38)
3:194405704 (GRCh37)
Canonical SPDI:: NC_000003.12:194684974:C:G
Gene:: FAM43A (Varview), LOC124909474 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.194684975C>G, NC_000003.11:g.194405704C>G

Select item 148232878518.

rs1482328785 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 3:194686695 (GRCh38)
3:194407424 (GRCh37)
Canonical SPDI:: NC_000003.12:194686694:A:G,NC_000003.12:194686694:A:T
Gene:: FAM43A (Varview), LOC124909474 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.194686695A>G, NC_000003.12:g.194686695A>T, NC_000003.11:g.194407424A>G, NC_000003.11:g.194407424A>T, NM_153690.5:c.-132A>G, NM_153690.5:c.-132A>T, NM_153690.4:c.-132A>G, NM_153690.4:c.-132A>T, XM_047449428.1:c.-442T>C, XM_047449428.1:c.-442T>A

Select item 148218320819.

rs1482183208 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:194685402 (GRCh38)
3:194406131 (GRCh37)
Canonical SPDI:: NC_000003.12:194685401:T:C
Gene:: FAM43A (Varview), LOC124909474 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.194685402T>C, NC_000003.11:g.194406131T>C, XM_047449428.1:c.411A>G

Select item 148059813620.

rs1480598136 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:194685879 (GRCh38)
3:194406608 (GRCh37)
Canonical SPDI:: NC_000003.12:194685878:C:T
Gene:: FAM43A (Varview), LOC124909474 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.194685879C>T, NC_000003.11:g.194406608C>T, XM_047449428.1:c.375G>A

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