SNP Links for Gene (Select 6331) - SNP

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Select item 14915711891.

rs1491571189 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>ACA [Show Flanks]
Chromosome:: 3:38579900 (GRCh38)
3:38621391 (GRCh37)
Canonical SPDI:: NC_000003.12:38579899:CC:ACA
Gene:: SCN5A (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000003.12:g.38579900_38579901delinsACA, NC_000003.11:g.38621391_38621392delinsACA, NG_008934.1:g.74772_74773delinsTGT, NG_053884.1:g.1639_1640delinsACA

Select item 14915623282.

rs1491562328 has merged into rs775921826 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 3:38558406 (GRCh38)
3:38599897 (GRCh37)
Canonical SPDI:: NC_000003.12:38558393:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:38558393:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:38558393:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:38558393:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:38558393:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:38558393:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: SCN5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.0017/1 (NorthernSweden)
HGVS:: NC_000003.12:g.38558406_38558407del, NC_000003.12:g.38558407del, NC_000003.12:g.38558407dup, NC_000003.12:g.38558406_38558407dup, NC_000003.12:g.38558405_38558407dup, NC_000003.12:g.38558404_38558407dup, NC_000003.11:g.38599897_38599898del, NC_000003.11:g.38599898del, NC_000003.11:g.38599898dup, NC_000003.11:g.38599897_38599898dup, NC_000003.11:g.38599896_38599898dup, NC_000003.11:g.38599895_38599898dup, NG_008934.1:g.96278_96279del, NG_008934.1:g.96279del, NG_008934.1:g.96279dup, NG_008934.1:g.96278_96279dup, NG_008934.1:g.96277_96279dup, NG_008934.1:g.96276_96279dup

Select item 14915613143.

rs1491561314 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 3:38558393 (GRCh38)
3:38599884 (GRCh37)
Canonical SPDI:: NC_000003.12:38558392:CT:
Gene:: SCN5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.0003/1 (ALSPAC)
-=0.0003/1 (TWINSUK)
HGVS:: NC_000003.12:g.38558393_38558394del, NC_000003.11:g.38599884_38599885del, NG_008934.1:g.96279_96280del

Select item 14915468754.

rs1491546875 has merged into rs1177030307 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>-,TGTG [Show Flanks]
Chromosome:: 3:38551637 (GRCh38)
3:38593128 (GRCh37)
Canonical SPDI:: NC_000003.12:38551635:GTG:G,NC_000003.12:38551635:GTG:GTGTG
Gene:: SCN5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTG=0./0 (ALFA)
-=0.000009/1 (GnomAD)
GT=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.38551637_38551638del, NC_000003.12:g.38551637_38551638dup, NC_000003.11:g.38593128_38593129del, NC_000003.11:g.38593128_38593129dup, NG_008934.1:g.103036_103037del, NG_008934.1:g.103036_103037dup

Select item 14914310935.

rs1491431093 [Homo sapiens]

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

Select item 14913854426.

rs1491385442 has merged into rs1553693111 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 3:38551636 (GRCh38)
3:38593128 (GRCh37)
Canonical SPDI:: NC_000003.12:38551636:T:TT
Gene:: SCN5A (Varview)
Functional Consequence:: intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000071/1 (TOMMO)
T=0.009332/1118 (GnomAD)
T=0.010306/66 (1000Genomes)
HGVS:: NC_000003.12:g.38551637dup, NC_000003.11:g.38593128dup, NG_008934.1:g.103036dup

Select item 14913823687.

rs1491382368 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ACA [Show Flanks]
Chromosome:: 3:38579898 (GRCh38)
3:38621390 (GRCh37)
Canonical SPDI:: NC_000003.12:38579898::A,NC_000003.12:38579898::ACA
Gene:: SCN5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACA=0./0 (ALFA)
A=0.000024/3 (GnomAD)
HGVS:: NC_000003.12:g.38579898_38579899insA, NC_000003.12:g.38579898_38579899insACA, NC_000003.11:g.38621389_38621390insA, NC_000003.11:g.38621389_38621390insACA, NG_008934.1:g.74774_74775insT, NG_008934.1:g.74774_74775insTGT, NG_053884.1:g.1637_1638insA, NG_053884.1:g.1637_1638insACA

Select item 14913704758.

rs1491370475 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 3:38559426 (GRCh38)
3:38600917 (GRCh37)
Canonical SPDI:: NC_000003.12:38559425:TG:
Gene:: SCN5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00075/21 (TOMMO)
HGVS:: NC_000003.12:g.38559426_38559427del, NC_000003.11:g.38600917_38600918del, NG_008934.1:g.95246_95247del

Select item 14911072109.

rs1491107210 has merged into rs1214978789 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:38555114 (GRCh38)
3:38596605 (GRCh37)
Canonical SPDI:: NC_000003.12:38555105:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000003.12:38555105:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:38555105:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:38555105:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:38555105:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:38555105:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:38555105:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:38555105:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:38555105:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:38555105:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:38555105:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:38555105:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:38555105:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:38555105:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:38555105:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:38555105:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:38555105:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:38555105:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:38555105:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:38555105:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:38555105:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:38555105:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:38555105:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:38555105:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:38555105:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:38555105:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:38555105:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SCN5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000003.12:g.38555114_38555125del, NC_000003.12:g.38555115_38555125del, NC_000003.12:g.38555116_38555125del, NC_000003.12:g.38555117_38555125del, NC_000003.12:g.38555118_38555125del, NC_000003.12:g.38555119_38555125del, NC_000003.12:g.38555120_38555125del, NC_000003.12:g.38555121_38555125del, NC_000003.12:g.38555122_38555125del, NC_000003.12:g.38555123_38555125del, NC_000003.12:g.38555124_38555125del, NC_000003.12:g.38555125del, NC_000003.12:g.38555125dup, NC_000003.12:g.38555124_38555125dup, NC_000003.12:g.38555123_38555125dup, NC_000003.12:g.38555122_38555125dup, NC_000003.12:g.38555121_38555125dup, NC_000003.12:g.38555120_38555125dup, NC_000003.12:g.38555119_38555125dup, NC_000003.12:g.38555118_38555125dup, NC_000003.12:g.38555117_38555125dup, NC_000003.12:g.38555116_38555125dup, NC_000003.12:g.38555115_38555125dup, NC_000003.12:g.38555114_38555125dup, NC_000003.12:g.38555113_38555125dup, NC_000003.12:g.38555112_38555125dup, NC_000003.12:g.38555111_38555125dup, NC_000003.11:g.38596605_38596616del, NC_000003.11:g.38596606_38596616del, NC_000003.11:g.38596607_38596616del, NC_000003.11:g.38596608_38596616del, NC_000003.11:g.38596609_38596616del, NC_000003.11:g.38596610_38596616del, NC_000003.11:g.38596611_38596616del, NC_000003.11:g.38596612_38596616del, NC_000003.11:g.38596613_38596616del, NC_000003.11:g.38596614_38596616del, NC_000003.11:g.38596615_38596616del, NC_000003.11:g.38596616del, NC_000003.11:g.38596616dup, NC_000003.11:g.38596615_38596616dup, NC_000003.11:g.38596614_38596616dup, NC_000003.11:g.38596613_38596616dup, NC_000003.11:g.38596612_38596616dup, NC_000003.11:g.38596611_38596616dup, NC_000003.11:g.38596610_38596616dup, NC_000003.11:g.38596609_38596616dup, NC_000003.11:g.38596608_38596616dup, NC_000003.11:g.38596607_38596616dup, NC_000003.11:g.38596606_38596616dup, NC_000003.11:g.38596605_38596616dup, NC_000003.11:g.38596604_38596616dup, NC_000003.11:g.38596603_38596616dup, NC_000003.11:g.38596602_38596616dup, NG_008934.1:g.99556_99567del, NG_008934.1:g.99557_99567del, NG_008934.1:g.99558_99567del, NG_008934.1:g.99559_99567del, NG_008934.1:g.99560_99567del, NG_008934.1:g.99561_99567del, NG_008934.1:g.99562_99567del, NG_008934.1:g.99563_99567del, NG_008934.1:g.99564_99567del, NG_008934.1:g.99565_99567del, NG_008934.1:g.99566_99567del, NG_008934.1:g.99567del, NG_008934.1:g.99567dup, NG_008934.1:g.99566_99567dup, NG_008934.1:g.99565_99567dup, NG_008934.1:g.99564_99567dup, NG_008934.1:g.99563_99567dup, NG_008934.1:g.99562_99567dup, NG_008934.1:g.99561_99567dup, NG_008934.1:g.99560_99567dup, NG_008934.1:g.99559_99567dup, NG_008934.1:g.99558_99567dup, NG_008934.1:g.99557_99567dup, NG_008934.1:g.99556_99567dup, NG_008934.1:g.99555_99567dup, NG_008934.1:g.99554_99567dup, NG_008934.1:g.99553_99567dup

Select item 149109629710.

rs1491096297 has merged into rs1453867912 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACC>-,ACACACACCACACACACC [Show Flanks]
Chromosome:: 3:38579912 (GRCh38)
3:38621403 (GRCh37)
Canonical SPDI:: NC_000003.12:38579900:CCACACACACCACACACACC:CCACACACACC,NC_000003.12:38579900:CCACACACACCACACACACC:CCACACACACCACACACACCACACACACC
Gene:: SCN5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCACACACACCACACACACCACACACACC=0./0 (ALFA)
-=0.0009/15 (TOMMO)
-=0.00112/2 (Korea1K)
HGVS:: NC_000003.12:g.38579903ACACACACC[1], NC_000003.12:g.38579903ACACACACC[3], NC_000003.11:g.38621394ACACACACC[1], NC_000003.11:g.38621394ACACACACC[3], NG_008934.1:g.74755TGTGTGTGG[1], NG_008934.1:g.74755TGTGTGTGG[3], NG_053884.1:g.1642ACACACACC[1], NG_053884.1:g.1642ACACACACC[3]

Select item 149102119111.

rs1491021191 has merged into rs11413054 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:38590229 (GRCh38)
3:38631720 (GRCh37)
Canonical SPDI:: NC_000003.12:38590221:AAAAAAAAAAAAAAAA:AAAAAAA,NC_000003.12:38590221:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:38590221:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:38590221:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:38590221:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:38590221:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:38590221:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:38590221:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:38590221:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:38590221:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:38590221:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:38590221:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: SCN5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000003.12:g.38590229_38590237del, NC_000003.12:g.38590234_38590237del, NC_000003.12:g.38590235_38590237del, NC_000003.12:g.38590236_38590237del, NC_000003.12:g.38590237del, NC_000003.12:g.38590237dup, NC_000003.12:g.38590236_38590237dup, NC_000003.12:g.38590235_38590237dup, NC_000003.12:g.38590234_38590237dup, NC_000003.12:g.38590233_38590237dup, NC_000003.12:g.38590232_38590237dup, NC_000003.12:g.38590231_38590237dup, NC_000003.11:g.38631720_38631728del, NC_000003.11:g.38631725_38631728del, NC_000003.11:g.38631726_38631728del, NC_000003.11:g.38631727_38631728del, NC_000003.11:g.38631728del, NC_000003.11:g.38631728dup, NC_000003.11:g.38631727_38631728dup, NC_000003.11:g.38631726_38631728dup, NC_000003.11:g.38631725_38631728dup, NC_000003.11:g.38631724_38631728dup, NC_000003.11:g.38631723_38631728dup, NC_000003.11:g.38631722_38631728dup, NG_008934.1:g.64443_64451del, NG_008934.1:g.64448_64451del, NG_008934.1:g.64449_64451del, NG_008934.1:g.64450_64451del, NG_008934.1:g.64451del, NG_008934.1:g.64451dup, NG_008934.1:g.64450_64451dup, NG_008934.1:g.64449_64451dup, NG_008934.1:g.64448_64451dup, NG_008934.1:g.64447_64451dup, NG_008934.1:g.64446_64451dup, NG_008934.1:g.64445_64451dup

Select item 149099994312.

rs1490999943 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:38615285 (GRCh38)
3:38656776 (GRCh37)
Canonical SPDI:: NC_000003.12:38615284:G:A
Gene:: SCN5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.38615285G>A, NC_000003.11:g.38656776G>A, NG_008934.1:g.39388C>T

Select item 149094740813.

rs1490947408 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 3:38616413 (GRCh38)
3:38657904 (GRCh37)
Canonical SPDI:: NC_000003.12:38616412:TT:T
Gene:: SCN5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.38616414del, NC_000003.11:g.38657905del, NG_008934.1:g.38260del

Select item 149093084414.

rs1490930844 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 3:38599690 (GRCh38)
3:38641182 (GRCh37)
Canonical SPDI:: NC_000003.12:38599690::G
Gene:: SCN5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.38599690_38599691insG, NC_000003.11:g.38641181_38641182insG, NG_008934.1:g.54982_54983insC

Select item 149092231315.

rs1490922313 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:38581413 (GRCh38)
3:38622904 (GRCh37)
Canonical SPDI:: NC_000003.12:38581412:T:C
Gene:: SCN5A (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000003.12:g.38581413T>C, NC_000003.11:g.38622904T>C, NG_008934.1:g.73260A>G, NG_053884.1:g.3152T>C

Select item 149085082716.

rs1490850827 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 3:38574757 (GRCh38)
3:38616248 (GRCh37)
Canonical SPDI:: NC_000003.12:38574756:C:A,NC_000003.12:38574756:C:G
Gene:: SCN5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.38574757C>A, NC_000003.12:g.38574757C>G, NC_000003.11:g.38616248C>A, NC_000003.11:g.38616248C>G, NG_008934.1:g.79916G>T, NG_008934.1:g.79916G>C

Select item 149084173317.

rs1490841733 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:38648514 (GRCh38)
3:38690005 (GRCh37)
Canonical SPDI:: NC_000003.12:38648513:G:T
Gene:: SCN5A (Varview)
Functional Consequence:: intron_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.38648514G>T, NC_000003.11:g.38690005G>T, NG_008934.1:g.6159C>A

Select item 149082246118.

rs1490822461 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:38590973 (GRCh38)
3:38632464 (GRCh37)
Canonical SPDI:: NC_000003.12:38590972:T:C
Gene:: SCN5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.38590973T>C, NC_000003.11:g.38632464T>C, NG_008934.1:g.63700A>G

Select item 149075293019.

rs1490752930 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 3:38577498 (GRCh38)
3:38618989 (GRCh37)
Canonical SPDI:: NC_000003.12:38577497:TT:T
Gene:: SCN5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.38577499del, NC_000003.11:g.38618990del, NG_008934.1:g.77175del

Select item 149069322120.

rs1490693221 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:38579581 (GRCh38)
3:38621072 (GRCh37)
Canonical SPDI:: NC_000003.12:38579580:C:G,NC_000003.12:38579580:C:T
Gene:: SCN5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.38579581C>G, NC_000003.12:g.38579581C>T, NC_000003.11:g.38621072C>G, NC_000003.11:g.38621072C>T, NG_008934.1:g.75092G>C, NG_008934.1:g.75092G>A, NG_053884.1:g.1320C>G, NG_053884.1:g.1320C>T

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