SNP Links for Nucleotide (Select 557129071) - SNP - NCBI

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Links from Nucleotide

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Select item 14769476401.

rs1476947640 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 6:10747810 (GRCh38)
6:10748043 (GRCh37)
Canonical SPDI:: NC_000006.12:10747809:C:A,NC_000006.12:10747809:C:G,NC_000006.12:10747809:C:T
Gene:: TMEM14B (Varview), TMEM14B-DT (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.10747810C>A, NC_000006.12:g.10747810C>G, NC_000006.12:g.10747810C>T, NC_000006.11:g.10748043C>A, NC_000006.11:g.10748043C>G, NC_000006.11:g.10748043C>T, NM_030969.5:c.-116C>A, NM_030969.5:c.-116C>G, NM_030969.5:c.-116C>T, NM_030969.4:c.-116C>A, NM_030969.4:c.-116C>G, NM_030969.4:c.-116C>T, NM_030969.3:c.-116C>A, NM_030969.3:c.-116C>G, NM_030969.3:c.-116C>T, NM_001127711.3:c.-116C>A, NM_001127711.3:c.-116C>G, NM_001127711.3:c.-116C>T, NM_001127711.2:c.-116C>A, NM_001127711.2:c.-116C>G, NM_001127711.2:c.-116C>T, NM_001127711.1:c.-116C>A, NM_001127711.1:c.-116C>G, NM_001127711.1:c.-116C>T, NM_001286488.2:c.-116C>A, NM_001286488.2:c.-116C>G, NM_001286488.2:c.-116C>T, NM_001286488.1:c.-116C>A, NM_001286488.1:c.-116C>G, NM_001286488.1:c.-116C>T, NM_001286489.2:c.-116C>A, NM_001286489.2:c.-116C>G, NM_001286489.2:c.-116C>T, NM_001286489.1:c.-116C>A, NM_001286489.1:c.-116C>G, NM_001286489.1:c.-116C>T, NM_001286484.2:c.-72C>A, NM_001286484.2:c.-72C>G, NM_001286484.2:c.-72C>T, NM_001286484.1:c.-72C>A, NM_001286484.1:c.-72C>G, NM_001286484.1:c.-72C>T, NR_104454.1:n.52C>A, NR_104454.1:n.52C>G, NR_104454.1:n.52C>T

Select item 14682658302.

rs1468265830 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:10756780 (GRCh38)
6:10757013 (GRCh37)
Canonical SPDI:: NC_000006.12:10756779:T:C
Gene:: TMEM14B (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.10756780T>C, NC_000006.11:g.10757013T>C, NM_030969.5:c.*262T>C, NM_030969.4:c.*262T>C, NM_030969.3:c.*262T>C, NM_001127711.3:c.*262T>C, NM_001127711.2:c.*262T>C, NM_001127711.1:c.*262T>C, NM_001286484.2:c.*262T>C, NM_001286484.1:c.*262T>C, NR_104454.1:n.595T>C

Select item 14669288633.

rs1466928863 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:10756507 (GRCh38)
6:10756740 (GRCh37)
Canonical SPDI:: NC_000006.12:10756506:A:T
Gene:: TMEM14B (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,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_000006.12:g.10756507A>T, NC_000006.11:g.10756740A>T, NM_030969.5:c.334A>T, NM_030969.4:c.334A>T, NM_030969.3:c.334A>T, NM_001127711.3:c.232A>T, NM_001127711.2:c.232A>T, NM_001127711.1:c.232A>T, NM_001286484.2:c.301A>T, NM_001286484.1:c.301A>T, NR_104454.1:n.322A>T, NP_112231.3:p.Thr112Ser, NP_001121183.1:p.Thr78Ser, NP_001273413.1:p.Thr101Ser

Select item 14619403294.

rs1461940329 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:10756924 (GRCh38)
6:10757157 (GRCh37)
Canonical SPDI:: NC_000006.12:10756923:G:A
Gene:: TMEM14B (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.10756924G>A, NC_000006.11:g.10757157G>A, NM_030969.5:c.*406G>A, NM_030969.4:c.*406G>A, NM_030969.3:c.*406G>A, NM_001127711.3:c.*406G>A, NM_001127711.2:c.*406G>A, NM_001127711.1:c.*406G>A, NM_001286484.2:c.*406G>A, NM_001286484.1:c.*406G>A, NR_104454.1:n.739G>A

Select item 14577033915.

rs1457703391 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 6:10747828 (GRCh38)
6:10748061 (GRCh37)
Canonical SPDI:: NC_000006.12:10747827:G:C,NC_000006.12:10747827:G:T
Gene:: TMEM14B (Varview), TMEM14B-DT (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.10747828G>C, NC_000006.12:g.10747828G>T, NC_000006.11:g.10748061G>C, NC_000006.11:g.10748061G>T, NM_030969.5:c.-98G>C, NM_030969.5:c.-98G>T, NM_030969.4:c.-98G>C, NM_030969.4:c.-98G>T, NM_030969.3:c.-98G>C, NM_030969.3:c.-98G>T, NM_001127711.3:c.-98G>C, NM_001127711.3:c.-98G>T, NM_001127711.2:c.-98G>C, NM_001127711.2:c.-98G>T, NM_001127711.1:c.-98G>C, NM_001127711.1:c.-98G>T, NM_001286488.2:c.-98G>C, NM_001286488.2:c.-98G>T, NM_001286488.1:c.-98G>C, NM_001286488.1:c.-98G>T, NM_001286489.2:c.-98G>C, NM_001286489.2:c.-98G>T, NM_001286489.1:c.-98G>C, NM_001286489.1:c.-98G>T, NM_001286484.2:c.-54G>C, NM_001286484.2:c.-54G>T, NM_001286484.1:c.-54G>C, NM_001286484.1:c.-54G>T, NR_104454.1:n.70G>C, NR_104454.1:n.70G>T

Select item 14575842026.

rs1457584202 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 6:10756829 (GRCh38)
6:10757062 (GRCh37)
Canonical SPDI:: NC_000006.12:10756828:T:A,NC_000006.12:10756828:T:C
Gene:: TMEM14B (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.10756829T>A, NC_000006.12:g.10756829T>C, NC_000006.11:g.10757062T>A, NC_000006.11:g.10757062T>C, NM_030969.5:c.*311T>A, NM_030969.5:c.*311T>C, NM_030969.4:c.*311T>A, NM_030969.4:c.*311T>C, NM_030969.3:c.*311T>A, NM_030969.3:c.*311T>C, NM_001127711.3:c.*311T>A, NM_001127711.3:c.*311T>C, NM_001127711.2:c.*311T>A, NM_001127711.2:c.*311T>C, NM_001127711.1:c.*311T>A, NM_001127711.1:c.*311T>C, NM_001286484.2:c.*311T>A, NM_001286484.2:c.*311T>C, NM_001286484.1:c.*311T>A, NM_001286484.1:c.*311T>C, NR_104454.1:n.644T>A, NR_104454.1:n.644T>C

Select item 14572801927.

rs1457280192 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:10747787 (GRCh38)
6:10748020 (GRCh37)
Canonical SPDI:: NC_000006.12:10747786:G:A,NC_000006.12:10747786:G:C
Gene:: TMEM14B (Varview), TMEM14B-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.10747787G>A, NC_000006.12:g.10747787G>C, NC_000006.11:g.10748020G>A, NC_000006.11:g.10748020G>C, NM_030969.4:c.-139G>A, NM_030969.4:c.-139G>C, NM_030969.3:c.-139G>A, NM_030969.3:c.-139G>C, NM_001127711.2:c.-139G>A, NM_001127711.2:c.-139G>C, NM_001286488.1:c.-139G>A, NM_001286488.1:c.-139G>C, NM_001286489.1:c.-139G>A, NM_001286489.1:c.-139G>C, NM_001286484.1:c.-95G>A, NM_001286484.1:c.-95G>C, NM_001127711.1:c.-139G>A, NM_001127711.1:c.-139G>C, NR_104454.1:n.29G>A, NR_104454.1:n.29G>C

Select item 14472845068.

rs1447284506 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 6:10755191 (GRCh38)
6:10755425 (GRCh37)
Canonical SPDI:: NC_000006.12:10755191:TAT:TATAT
Gene:: TMEM14B (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATAT=0./0 (ALFA)
TA=0.000004/1 (TOPMED)
TA=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.10755193_10755194dup, NC_000006.11:g.10755426_10755427dup, NM_030969.5:c.254_255dup, NM_030969.4:c.254_255dup, NM_030969.3:c.254_255dup, NM_001127711.3:c.152_153dup, NM_001127711.2:c.152_153dup, NM_001127711.1:c.152_153dup, NM_001286488.2:c.254_255dup, NM_001286488.1:c.254_255dup, NM_001286489.2:c.152_153dup, NM_001286489.1:c.152_153dup, NM_001286484.2:c.221_222dup, NM_001286484.1:c.221_222dup, NR_104454.1:n.242_243dup, NP_112231.3:p.Gly86fs, NP_001121183.1:p.Gly52fs, NP_001273417.1:p.Gly86fs, NP_001273418.1:p.Gly52fs, NP_001273413.1:p.Gly75fs

Select item 14417784639.

rs1441778463 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:10756619 (GRCh38)
6:10756852 (GRCh37)
Canonical SPDI:: NC_000006.12:10756618:G:C
Gene:: TMEM14B (Varview)
Functional Consequence:: 3_prime_UTR_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)
C=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.10756619G>C, NC_000006.11:g.10756852G>C, NM_030969.5:c.*101G>C, NM_030969.4:c.*101G>C, NM_030969.3:c.*101G>C, NM_001127711.3:c.*101G>C, NM_001127711.2:c.*101G>C, NM_001127711.1:c.*101G>C, NM_001286484.2:c.*101G>C, NM_001286484.1:c.*101G>C, NR_104454.1:n.434G>C

Select item 143940183010.

rs1439401830 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:10747866 (GRCh38)
6:10748099 (GRCh37)
Canonical SPDI:: NC_000006.12:10747865:C:T
Gene:: TMEM14B (Varview), TMEM14B-DT (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.10747866C>T, NC_000006.11:g.10748099C>T, NM_030969.5:c.-60C>T, NM_030969.4:c.-60C>T, NM_030969.3:c.-60C>T, NM_001127711.3:c.-60C>T, NM_001127711.2:c.-60C>T, NM_001127711.1:c.-60C>T, NM_001286488.2:c.-60C>T, NM_001286488.1:c.-60C>T, NM_001286489.2:c.-60C>T, NM_001286489.1:c.-60C>T, NM_001286484.2:c.-16C>T, NM_001286484.1:c.-16C>T, NR_104454.1:n.108C>T

Select item 143452064611.

rs1434520646 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:10747796 (GRCh38)
6:10748029 (GRCh37)
Canonical SPDI:: NC_000006.12:10747795:C:A,NC_000006.12:10747795:C:T
Gene:: TMEM14B (Varview), TMEM14B-DT (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00007/2 (TOMMO)
HGVS:: NC_000006.12:g.10747796C>A, NC_000006.12:g.10747796C>T, NC_000006.11:g.10748029C>A, NC_000006.11:g.10748029C>T, NM_030969.4:c.-130C>A, NM_030969.4:c.-130C>T, NM_030969.3:c.-130C>A, NM_030969.3:c.-130C>T, NM_001127711.2:c.-130C>A, NM_001127711.2:c.-130C>T, NM_001286488.1:c.-130C>A, NM_001286488.1:c.-130C>T, NM_001286489.1:c.-130C>A, NM_001286489.1:c.-130C>T, NM_001286484.1:c.-86C>A, NM_001286484.1:c.-86C>T, NM_001127711.1:c.-130C>A, NM_001127711.1:c.-130C>T, NR_104454.1:n.38C>A, NR_104454.1:n.38C>T

Select item 142778488512.

rs1427784885 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 6:10749232 (GRCh38)
6:10749465 (GRCh37)
Canonical SPDI:: NC_000006.12:10749231:C:
Gene:: TMEM14B (Varview), TMEM14B-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.10749232del, NC_000006.11:g.10749465del, NM_030969.5:c.-14del, NM_030969.4:c.-14del, NM_030969.3:c.-14del, NM_001127711.3:c.-14del, NM_001127711.2:c.-14del, NM_001127711.1:c.-14del, NM_001286488.2:c.-14del, NM_001286488.1:c.-14del, NM_001286489.2:c.-14del, NM_001286489.1:c.-14del, NM_001286484.2:c.31del, NM_001286484.1:c.31del, NR_104454.1:n.154del, NP_001273413.1:p.Gly10_Leu11insTer

Select item 142504121613.

rs1425041216 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:10755226 (GRCh38)
6:10755459 (GRCh37)
Canonical SPDI:: NC_000006.12:10755225:G:T
Gene:: TMEM14B (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.10755226G>T, NC_000006.11:g.10755459G>T, NM_030969.5:c.287G>T, NM_030969.4:c.287G>T, NM_030969.3:c.287G>T, NM_001127711.3:c.185G>T, NM_001127711.2:c.185G>T, NM_001127711.1:c.185G>T, NM_001286488.2:c.287G>T, NM_001286488.1:c.287G>T, NM_001286489.2:c.185G>T, NM_001286489.1:c.185G>T, NM_001286484.2:c.254G>T, NM_001286484.1:c.254G>T, NR_104454.1:n.275G>T, NP_112231.3:p.Gly96Val, NP_001121183.1:p.Gly62Val, NP_001273417.1:p.Gly96Val, NP_001273418.1:p.Gly62Val, NP_001273413.1:p.Gly85Val

Select item 142223583114.

rs1422235831 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:10747794 (GRCh38)
6:10748027 (GRCh37)
Canonical SPDI:: NC_000006.12:10747793:A:G,NC_000006.12:10747793:A:T
Gene:: TMEM14B (Varview), TMEM14B-DT (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.10747794A>G, NC_000006.12:g.10747794A>T, NC_000006.11:g.10748027A>G, NC_000006.11:g.10748027A>T, NM_030969.4:c.-132A>G, NM_030969.4:c.-132A>T, NM_030969.3:c.-132A>G, NM_030969.3:c.-132A>T, NM_001127711.2:c.-132A>G, NM_001127711.2:c.-132A>T, NM_001286488.1:c.-132A>G, NM_001286488.1:c.-132A>T, NM_001286489.1:c.-132A>G, NM_001286489.1:c.-132A>T, NM_001286484.1:c.-88A>G, NM_001286484.1:c.-88A>T, NM_001127711.1:c.-132A>G, NM_001127711.1:c.-132A>T, NR_104454.1:n.36A>G, NR_104454.1:n.36A>T

Select item 141613750515.

rs1416137505 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:10749222 (GRCh38)
6:10749455 (GRCh37)
Canonical SPDI:: NC_000006.12:10749221:C:G,NC_000006.12:10749221:C:T
Gene:: TMEM14B (Varview), TMEM14B-DT (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.10749222C>G, NC_000006.12:g.10749222C>T, NC_000006.11:g.10749455C>G, NC_000006.11:g.10749455C>T, NM_030969.5:c.-24C>G, NM_030969.5:c.-24C>T, NM_030969.4:c.-24C>G, NM_030969.4:c.-24C>T, NM_030969.3:c.-24C>G, NM_030969.3:c.-24C>T, NM_001127711.3:c.-24C>G, NM_001127711.3:c.-24C>T, NM_001127711.2:c.-24C>G, NM_001127711.2:c.-24C>T, NM_001127711.1:c.-24C>G, NM_001127711.1:c.-24C>T, NM_001286488.2:c.-24C>G, NM_001286488.2:c.-24C>T, NM_001286488.1:c.-24C>G, NM_001286488.1:c.-24C>T, NM_001286489.2:c.-24C>G, NM_001286489.2:c.-24C>T, NM_001286489.1:c.-24C>G, NM_001286489.1:c.-24C>T, NM_001286484.2:c.21C>G, NM_001286484.2:c.21C>T, NM_001286484.1:c.21C>G, NM_001286484.1:c.21C>T, NR_104454.1:n.144C>G, NR_104454.1:n.144C>T

Select item 141084721016.

rs1410847210 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAAGA>- [Show Flanks]
Chromosome:: 6:10749241 (GRCh38)
6:10749474 (GRCh37)
Canonical SPDI:: NC_000006.12:10749233:GAGAAGAGAAGA:GAGAAGA
Gene:: TMEM14B (Varview), TMEM14B-DT (Varview)
Functional Consequence:: 5_prime_UTR_variant,frameshift_variant,2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAAGA=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.000354/6 (TOMMO)
HGVS:: NC_000006.12:g.10749236GAAGA[1], NC_000006.11:g.10749469GAAGA[1], NM_030969.5:c.-10GAAGA[1], NM_030969.4:c.-10GAAGA[1], NM_030969.3:c.-10GAAGA[1], NM_001127711.3:c.-10GAAGA[1], NM_001127711.2:c.-10GAAGA[1], NM_001127711.1:c.-10GAAGA[1], NM_001286488.2:c.-10GAAGA[1], NM_001286488.1:c.-10GAAGA[1], NM_001286489.2:c.-10GAAGA[1], NM_001286489.1:c.-10GAAGA[1], NM_001286484.2:c.40_44del, NM_001286484.1:c.40_44del, NR_104454.1:n.158GAAGA[1], NP_001273413.1:p.Glu14fs

Select item 141005664917.

rs1410056649 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:10756504 (GRCh38)
6:10756737 (GRCh37)
Canonical SPDI:: NC_000006.12:10756503:A:G
Gene:: TMEM14B (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.10756504A>G, NC_000006.11:g.10756737A>G, NM_030969.5:c.331A>G, NM_030969.4:c.331A>G, NM_030969.3:c.331A>G, NM_001127711.3:c.229A>G, NM_001127711.2:c.229A>G, NM_001127711.1:c.229A>G, NM_001286484.2:c.298A>G, NM_001286484.1:c.298A>G, NR_104454.1:n.319A>G, NP_112231.3:p.Met111Val, NP_001121183.1:p.Met77Val, NP_001273413.1:p.Met100Val

Select item 140777337818.

rs1407773378 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:10755178 (GRCh38)
6:10755411 (GRCh37)
Canonical SPDI:: NC_000006.12:10755177:T:C
Gene:: TMEM14B (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.10755178T>C, NC_000006.11:g.10755411T>C, NM_030969.5:c.239T>C, NM_030969.4:c.239T>C, NM_030969.3:c.239T>C, NM_001127711.3:c.137T>C, NM_001127711.2:c.137T>C, NM_001127711.1:c.137T>C, NM_001286488.2:c.239T>C, NM_001286488.1:c.239T>C, NM_001286489.2:c.137T>C, NM_001286489.1:c.137T>C, NM_001286484.2:c.206T>C, NM_001286484.1:c.206T>C, NR_104454.1:n.227T>C, NP_112231.3:p.Met80Thr, NP_001121183.1:p.Met46Thr, NP_001273417.1:p.Met80Thr, NP_001273418.1:p.Met46Thr, NP_001273413.1:p.Met69Thr

Select item 140696430919.

rs1406964309 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 6:10747783 (GRCh38)
6:10748016 (GRCh37)
Canonical SPDI:: NC_000006.12:10747782:CCCC:CCC
Gene:: TMEM14B (Varview), TMEM14B-DT (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0.000071/1 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.10747786del, NC_000006.11:g.10748019del, NM_030969.4:c.-140del, NM_030969.3:c.-140del, NM_001127711.2:c.-140del, NM_001286488.1:c.-140del, NM_001286489.1:c.-140del, NM_001286484.1:c.-96del, NM_001127711.1:c.-140del, NR_104454.1:n.28del

Select item 140667952220.

rs1406679522 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:10749219 (GRCh38)
6:10749452 (GRCh37)
Canonical SPDI:: NC_000006.12:10749218:T:G
Gene:: TMEM14B (Varview), TMEM14B-DT (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.10749219T>G, NC_000006.11:g.10749452T>G, NM_030969.5:c.-27T>G, NM_030969.4:c.-27T>G, NM_030969.3:c.-27T>G, NM_001127711.3:c.-27T>G, NM_001127711.2:c.-27T>G, NM_001127711.1:c.-27T>G, NM_001286488.2:c.-27T>G, NM_001286488.1:c.-27T>G, NM_001286489.2:c.-27T>G, NM_001286489.1:c.-27T>G, NM_001286484.2:c.18T>G, NM_001286484.1:c.18T>G, NR_104454.1:n.141T>G, NP_001273413.1:p.Ser6Arg

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