SNP Links for Nucleotide (Select 378925618) - SNP

Links from Nucleotide

Items: 1 to 20 of 956

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Select item 14896634191.

rs1489663419 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:151051832 (GRCh38)
7:150748919 (GRCh37)
Canonical SPDI:: NC_000007.14:151051831:A:G
Gene:: ASIC3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.151051832A>G, NC_000007.13:g.150748919A>G, NG_042167.1:g.11134T>C, NM_004769.4:c.1237A>G, NM_004769.3:c.1237A>G, NM_020321.3:c.1237A>G, NM_020322.3:c.1237A>G, NR_046401.1:n.1683A>G, NP_004760.1:p.Ile413Val, NP_064717.1:p.Ile413Val, NP_064718.1:p.Ile413Val

Select item 14888828822.

rs1488882882 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:151049129 (GRCh38)
7:150746216 (GRCh37)
Canonical SPDI:: NC_000007.14:151049128:C:T
Gene:: ASIC3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.151049129C>T, NC_000007.13:g.150746216C>T, NM_004769.4:c.244C>T, NM_004769.3:c.244C>T, NM_020321.3:c.244C>T, NM_020322.3:c.244C>T, NR_046401.1:n.838C>T, NP_004760.1:p.His82Tyr, NP_064717.1:p.His82Tyr, NP_064718.1:p.His82Tyr

Select item 14887569803.

rs1488756980 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:151050792 (GRCh38)
7:150747879 (GRCh37)
Canonical SPDI:: NC_000007.14:151050791:G:T
Gene:: ASIC3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_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_000007.14:g.151050792G>T, NC_000007.13:g.150747879G>T, NM_004769.4:c.848G>T, NM_004769.3:c.848G>T, NM_020321.3:c.848G>T, NM_020322.3:c.848G>T, NR_046401.1:n.1442G>T, NP_004760.1:p.Ser283Ile, NP_064717.1:p.Ser283Ile, NP_064718.1:p.Ser283Ile

Select item 14855090104.

rs1485509010 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:151048481 (GRCh38)
7:150745568 (GRCh37)
Canonical SPDI:: NC_000007.14:151048480:C:A,NC_000007.14:151048480:C:T
Gene:: ASIC3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000007.14:g.151048481C>A, NC_000007.14:g.151048481C>T, NC_000007.13:g.150745568C>A, NC_000007.13:g.150745568C>T, NM_020321.3:c.-405C>A, NM_020321.3:c.-405C>T, NM_004769.3:c.-405C>A, NM_004769.3:c.-405C>T, NM_020322.3:c.-405C>A, NM_020322.3:c.-405C>T, NR_046401.1:n.190C>A, NR_046401.1:n.190C>T

Select item 14853614335.

rs1485361433 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:151052583 (GRCh38)
7:150749670 (GRCh37)
Canonical SPDI:: NC_000007.14:151052582:C:T
Gene:: ASIC3 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.151052583C>T, NC_000007.13:g.150749670C>T, NG_042167.1:g.10383G>A, NM_004769.4:c.1527C>T, NM_004769.3:c.1527C>T, NM_020321.3:c.1547C>T, NM_020322.3:c.1468C>T, NR_046401.1:n.1973C>T, NP_064717.1:p.Pro516Leu, NP_064718.1:p.Pro490Ser

Select item 14850947006.

rs1485094700 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:151050590 (GRCh38)
7:150747677 (GRCh37)
Canonical SPDI:: NC_000007.14:151050589:T:C
Gene:: ASIC3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.151050590T>C, NC_000007.13:g.150747677T>C, NM_004769.4:c.795T>C, NM_004769.3:c.795T>C, NM_020321.3:c.795T>C, NM_020322.3:c.795T>C, NR_046401.1:n.1389T>C

Select item 14843297027.

rs1484329702 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:151052693 (GRCh38)
7:150749780 (GRCh37)
Canonical SPDI:: NC_000007.14:151052692:G:C
Gene:: ASIC3 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.151052693G>C, NC_000007.13:g.150749780G>C, NG_042167.1:g.10273C>G, NM_004769.4:c.*41G>C, NM_004769.3:c.*41G>C, NM_020321.3:c.*7G>C, NM_020322.3:c.1578G>C, NR_046401.1:n.2083G>C

Select item 14833223978.

rs1483322397 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:151052702 (GRCh38)
7:150749789 (GRCh37)
Canonical SPDI:: NC_000007.14:151052701:T:C
Gene:: ASIC3 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.151052702T>C, NC_000007.13:g.150749789T>C, NG_042167.1:g.10264A>G, NM_004769.4:c.*50T>C, NM_004769.3:c.*50T>C, NM_020321.3:c.*16T>C, NM_020322.3:c.1587T>C, NR_046401.1:n.2092T>C

Select item 14827286819.

rs1482728681 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:151050605 (GRCh38)
7:150747692 (GRCh37)
Canonical SPDI:: NC_000007.14:151050604:G:A,NC_000007.14:151050604:G:T
Gene:: ASIC3 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.151050605G>A, NC_000007.14:g.151050605G>T, NC_000007.13:g.150747692G>A, NC_000007.13:g.150747692G>T, NM_004769.4:c.810G>A, NM_004769.4:c.810G>T, NM_004769.3:c.810G>A, NM_004769.3:c.810G>T, NM_020321.3:c.810G>A, NM_020321.3:c.810G>T, NM_020322.3:c.810G>A, NM_020322.3:c.810G>T, NR_046401.1:n.1404G>A, NR_046401.1:n.1404G>T, NP_004760.1:p.Gln270His, NP_064717.1:p.Gln270His, NP_064718.1:p.Gln270His

Select item 148250877510.

rs1482508775 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:151049061 (GRCh38)
7:150746148 (GRCh37)
Canonical SPDI:: NC_000007.14:151049060:A:G
Gene:: ASIC3 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.151049061A>G, NC_000007.13:g.150746148A>G, NM_004769.4:c.176A>G, NM_004769.3:c.176A>G, NM_020321.3:c.176A>G, NM_020322.3:c.176A>G, NR_046401.1:n.770A>G, NP_004760.1:p.Gln59Arg, NP_064717.1:p.Gln59Arg, NP_064718.1:p.Gln59Arg

Select item 148169772411.

rs1481697724 has merged into rs1260493281 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCCGC>-,GCCGCGCCGC [Show Flanks]
Chromosome:: 7:151051267 (GRCh38)
7:150748354 (GRCh37)
Canonical SPDI:: NC_000007.14:151051261:GCCGCGCCGC:GCCGC,NC_000007.14:151051261:GCCGCGCCGC:GCCGCGCCGCGCCGC
Gene:: ASIC3 (Varview)
Functional Consequence:: intron_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCCGCGCCGCGCCGC=0./0 (ALFA)
HGVS:: NC_000007.14:g.151051262GCCGC[1], NC_000007.14:g.151051262GCCGC[3], NC_000007.13:g.150748349GCCGC[1], NC_000007.13:g.150748349GCCGC[3], NM_004769.4:c.1162_1166del, NM_004769.4:c.1162_1166dup, NM_004769.3:c.1162_1166del, NM_004769.3:c.1162_1166dup, NM_020321.3:c.1162_1166del, NM_020321.3:c.1162_1166dup, NM_020322.3:c.1162_1166del, NM_020322.3:c.1162_1166dup, NP_004760.1:p.Ala388fs, NP_004760.1:p.Ala390fs, NP_064717.1:p.Ala388fs, NP_064717.1:p.Ala390fs, NP_064718.1:p.Ala388fs, NP_064718.1:p.Ala390fs

Select item 147870099712.

rs1478700997 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:151048872 (GRCh38)
7:150745959 (GRCh37)
Canonical SPDI:: NC_000007.14:151048871:C:T
Gene:: ASIC3 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
T=0.000021/4 (GnomAD_exomes)
HGVS:: NC_000007.14:g.151048872C>T, NC_000007.13:g.150745959C>T, NM_004769.4:c.-14C>T, NM_004769.3:c.-14C>T, NM_020321.3:c.-14C>T, NM_020322.3:c.-14C>T, NR_046401.1:n.581C>T

Select item 147690464213.

rs1476904642 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 7:151051049 (GRCh38)
7:150748136 (GRCh37)
Canonical SPDI:: NC_000007.14:151051048:AG:
Gene:: ASIC3 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.151051049_151051050del, NC_000007.13:g.150748136_150748137del, NM_004769.4:c.1020_1021del, NM_004769.3:c.1020_1021del, NM_020321.3:c.1020_1021del, NM_020322.3:c.1020_1021del, NR_046401.1:n.1614_1615del, NP_004760.1:p.Cys342fs, NP_064717.1:p.Cys342fs, NP_064718.1:p.Cys342fs

Select item 147602514714.

rs1476025147 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:151048833 (GRCh38)
7:150745920 (GRCh37)
Canonical SPDI:: NC_000007.14:151048832:C:G
Gene:: ASIC3 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.151048833C>G, NC_000007.13:g.150745920C>G, NM_004769.4:c.-53C>G, NM_004769.3:c.-53C>G, NM_020321.3:c.-53C>G, NM_020322.3:c.-53C>G, NR_046401.1:n.542C>G

Select item 147468230215.

rs1474682302 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:151049272 (GRCh38)
7:150746359 (GRCh37)
Canonical SPDI:: NC_000007.14:151049271:G:A
Gene:: ASIC3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000007.14:g.151049272G>A, NC_000007.13:g.150746359G>A, NM_004769.4:c.387G>A, NM_004769.3:c.387G>A, NM_020321.3:c.387G>A, NM_020322.3:c.387G>A, NR_046401.1:n.981G>A

Select item 147435856716.

rs1474358567 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:151050125 (GRCh38)
7:150747212 (GRCh37)
Canonical SPDI:: NC_000007.14:151050124:A:G
Gene:: ASIC3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.151050125A>G, NC_000007.13:g.150747212A>G, NM_004769.4:c.554A>G, NM_004769.3:c.554A>G, NM_020321.3:c.554A>G, NM_020322.3:c.554A>G, NR_046401.1:n.1148A>G, NP_004760.1:p.Lys185Arg, NP_064717.1:p.Lys185Arg, NP_064718.1:p.Lys185Arg

Select item 147425614717.

rs1474256147 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:151050844 (GRCh38)
7:150747931 (GRCh37)
Canonical SPDI:: NC_000007.14:151050843:C:T
Gene:: ASIC3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.151050844C>T, NC_000007.13:g.150747931C>T, NM_004769.4:c.900C>T, NM_004769.3:c.900C>T, NM_020321.3:c.900C>T, NM_020322.3:c.900C>T, NR_046401.1:n.1494C>T

Select item 147395775518.

rs1473957755 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:151052447 (GRCh38)
7:150749534 (GRCh37)
Canonical SPDI:: NC_000007.14:151052446:A:G
Gene:: ASIC3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.151052447A>G, NC_000007.13:g.150749534A>G, NG_042167.1:g.10519T>C, NM_004769.4:c.1490A>G, NM_004769.3:c.1490A>G, NM_020321.3:c.1490A>G, NR_046401.1:n.1936A>G, NP_004760.1:p.Gln497Arg, NP_064717.1:p.Gln497Arg

Select item 147352891419.

rs1473528914 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:151052417 (GRCh38)
7:150749504 (GRCh37)
Canonical SPDI:: NC_000007.14:151052416:T:C
Gene:: ASIC3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_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_000007.14:g.151052417T>C, NC_000007.13:g.150749504T>C, NG_042167.1:g.10549A>G, NM_004769.4:c.1460T>C, NM_004769.3:c.1460T>C, NM_020321.3:c.1460T>C, NR_046401.1:n.1906T>C, NP_004760.1:p.Leu487Pro, NP_064717.1:p.Leu487Pro

Select item 147327967120.

rs1473279671 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:151051897 (GRCh38)
7:150748984 (GRCh37)
Canonical SPDI:: NC_000007.14:151051896:G:A
Gene:: ASIC3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000007.14:g.151051897G>A, NC_000007.13:g.150748984G>A, NG_042167.1:g.11069C>T, NM_004769.4:c.1302G>A, NM_004769.3:c.1302G>A, NM_020321.3:c.1302G>A, NM_020322.3:c.1302G>A, NR_046401.1:n.1748G>A

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