SNP Links for Nucleotide (Select 1030311329) - SNP

Links from Nucleotide

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Select item 14914331081.

rs1491433108 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA [Show Flanks]
Chromosome:: 2:99163178 (GRCh38)
2:99779642 (GRCh37)
Canonical SPDI:: NC_000002.12:99163178::A,NC_000002.12:99163178::AA
Gene:: LIPT1 (Varview), MITD1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
AA=0.000018/2 (GnomAD)
A=0.000547/1 (Korea1K)
A=0.003151/89 (TOMMO)
HGVS:: NC_000002.12:g.99163178_99163179insA, NC_000002.12:g.99163178_99163179insAA, NC_000002.11:g.99779641_99779642insA, NC_000002.11:g.99779641_99779642insAA, NG_050665.1:g.13224_13225insA, NG_050665.1:g.13224_13225insAA

Select item 14911839502.

rs1491183950 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:99151463 (GRCh38)
2:99767926 (GRCh37)
Canonical SPDI:: NC_000002.12:99151462:CA:
Gene:: TSGA10 (Varview), C2orf15 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.02563/304 (ALFA)
-=0.00056/1 (Korea1K)
-=0.00118/44 (GnomAD)
-=0.00758/125 (TOMMO)
HGVS:: NC_000002.12:g.99151463_99151464del, NC_000002.11:g.99767926_99767927del, NG_050665.1:g.1509_1510del, NM_144706.4:c.*629_*630del, NM_144706.3:c.*629_*630del, NM_144706.2:c.*629_*630del, NM_001317992.2:c.*629_*630del, NM_001317992.1:c.*629_*630del

Select item 14911086493.

rs1491108649 [Homo sapiens]

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

Select item 14911024074.

rs1491102407 has merged into rs55966864 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:99151473 (GRCh38)
2:99767936 (GRCh37)
Canonical SPDI:: NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TSGA10 (Varview), C2orf15 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.99151473_99151487del, NC_000002.12:g.99151474_99151487del, NC_000002.12:g.99151475_99151487del, NC_000002.12:g.99151476_99151487del, NC_000002.12:g.99151478_99151487del, NC_000002.12:g.99151479_99151487del, NC_000002.12:g.99151480_99151487del, NC_000002.12:g.99151481_99151487del, NC_000002.12:g.99151483_99151487del, NC_000002.12:g.99151484_99151487del, NC_000002.12:g.99151485_99151487del, NC_000002.12:g.99151486_99151487del, NC_000002.12:g.99151487del, NC_000002.12:g.99151487dup, NC_000002.12:g.99151486_99151487dup, NC_000002.12:g.99151485_99151487dup, NC_000002.12:g.99151484_99151487dup, NC_000002.12:g.99151483_99151487dup, NC_000002.12:g.99151482_99151487dup, NC_000002.12:g.99151466_99151487dup, NC_000002.12:g.99151487_99151488insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.99767936_99767950del, NC_000002.11:g.99767937_99767950del, NC_000002.11:g.99767938_99767950del, NC_000002.11:g.99767939_99767950del, NC_000002.11:g.99767941_99767950del, NC_000002.11:g.99767942_99767950del, NC_000002.11:g.99767943_99767950del, NC_000002.11:g.99767944_99767950del, NC_000002.11:g.99767946_99767950del, NC_000002.11:g.99767947_99767950del, NC_000002.11:g.99767948_99767950del, NC_000002.11:g.99767949_99767950del, NC_000002.11:g.99767950del, NC_000002.11:g.99767950dup, NC_000002.11:g.99767949_99767950dup, NC_000002.11:g.99767948_99767950dup, NC_000002.11:g.99767947_99767950dup, NC_000002.11:g.99767946_99767950dup, NC_000002.11:g.99767945_99767950dup, NC_000002.11:g.99767929_99767950dup, NC_000002.11:g.99767950_99767951insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_050665.1:g.1519_1533del, NG_050665.1:g.1520_1533del, NG_050665.1:g.1521_1533del, NG_050665.1:g.1522_1533del, NG_050665.1:g.1524_1533del, NG_050665.1:g.1525_1533del, NG_050665.1:g.1526_1533del, NG_050665.1:g.1527_1533del, NG_050665.1:g.1529_1533del, NG_050665.1:g.1530_1533del, NG_050665.1:g.1531_1533del, NG_050665.1:g.1532_1533del, NG_050665.1:g.1533del, NG_050665.1:g.1533dup, NG_050665.1:g.1532_1533dup, NG_050665.1:g.1531_1533dup, NG_050665.1:g.1530_1533dup, NG_050665.1:g.1529_1533dup, NG_050665.1:g.1528_1533dup, NG_050665.1:g.1512_1533dup, NG_050665.1:g.1533_1534insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_144706.4:c.*639_*653del, NM_144706.4:c.*640_*653del, NM_144706.4:c.*641_*653del, NM_144706.4:c.*642_*653del, NM_144706.4:c.*644_*653del, NM_144706.4:c.*645_*653del, NM_144706.4:c.*646_*653del, NM_144706.4:c.*647_*653del, NM_144706.4:c.*649_*653del, NM_144706.4:c.*650_*653del, NM_144706.4:c.*651_*653del, NM_144706.4:c.*652_*653del, NM_144706.4:c.*653del, NM_144706.4:c.*653dup, NM_144706.4:c.*652_*653dup, NM_144706.4:c.*651_*653dup, NM_144706.4:c.*650_*653dup, NM_144706.4:c.*649_*653dup, NM_144706.4:c.*648_*653dup, NM_144706.4:c.*632_*653dup, NM_144706.4:c.*653_*654insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_144706.3:c.*639_*653del, NM_144706.3:c.*640_*653del, NM_144706.3:c.*641_*653del, NM_144706.3:c.*642_*653del, NM_144706.3:c.*644_*653del, NM_144706.3:c.*645_*653del, NM_144706.3:c.*646_*653del, NM_144706.3:c.*647_*653del, NM_144706.3:c.*649_*653del, NM_144706.3:c.*650_*653del, NM_144706.3:c.*651_*653del, NM_144706.3:c.*652_*653del, NM_144706.3:c.*653del, NM_144706.3:c.*653dup, NM_144706.3:c.*652_*653dup, NM_144706.3:c.*651_*653dup, NM_144706.3:c.*650_*653dup, NM_144706.3:c.*649_*653dup, NM_144706.3:c.*648_*653dup, NM_144706.3:c.*632_*653dup, NM_144706.3:c.*653_*654insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_144706.2:c.*639_*653del, NM_144706.2:c.*640_*653del, NM_144706.2:c.*641_*653del, NM_144706.2:c.*642_*653del, NM_144706.2:c.*644_*653del, NM_144706.2:c.*645_*653del, NM_144706.2:c.*646_*653del, NM_144706.2:c.*647_*653del, NM_144706.2:c.*649_*653del, NM_144706.2:c.*650_*653del, NM_144706.2:c.*651_*653del, NM_144706.2:c.*652_*653del, NM_144706.2:c.*653del, NM_144706.2:c.*653dup, NM_144706.2:c.*652_*653dup, NM_144706.2:c.*651_*653dup, NM_144706.2:c.*650_*653dup, NM_144706.2:c.*649_*653dup, NM_144706.2:c.*648_*653dup, NM_144706.2:c.*632_*653dup, NM_144706.2:c.*653_*654insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_001317992.2:c.*639_*653del, NM_001317992.2:c.*640_*653del, NM_001317992.2:c.*641_*653del, NM_001317992.2:c.*642_*653del, NM_001317992.2:c.*644_*653del, NM_001317992.2:c.*645_*653del, NM_001317992.2:c.*646_*653del, NM_001317992.2:c.*647_*653del, NM_001317992.2:c.*649_*653del, NM_001317992.2:c.*650_*653del, NM_001317992.2:c.*651_*653del, NM_001317992.2:c.*652_*653del, NM_001317992.2:c.*653del, NM_001317992.2:c.*653dup, NM_001317992.2:c.*652_*653dup, NM_001317992.2:c.*651_*653dup, NM_001317992.2:c.*650_*653dup, NM_001317992.2:c.*649_*653dup, NM_001317992.2:c.*648_*653dup, NM_001317992.2:c.*632_*653dup, NM_001317992.2:c.*653_*654insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_001317992.1:c.*639_*653del, NM_001317992.1:c.*640_*653del, NM_001317992.1:c.*641_*653del, NM_001317992.1:c.*642_*653del, NM_001317992.1:c.*644_*653del, NM_001317992.1:c.*645_*653del, NM_001317992.1:c.*646_*653del, NM_001317992.1:c.*647_*653del, NM_001317992.1:c.*649_*653del, NM_001317992.1:c.*650_*653del, NM_001317992.1:c.*651_*653del, NM_001317992.1:c.*652_*653del, NM_001317992.1:c.*653del, NM_001317992.1:c.*653dup, NM_001317992.1:c.*652_*653dup, NM_001317992.1:c.*651_*653dup, NM_001317992.1:c.*650_*653dup, NM_001317992.1:c.*649_*653dup, NM_001317992.1:c.*648_*653dup, NM_001317992.1:c.*632_*653dup, NM_001317992.1:c.*653_*654insAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14909400725.

rs1490940072 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 2:99151702 (GRCh38)
2:99768165 (GRCh37)
Canonical SPDI:: NC_000002.12:99151701:TTTTT:TTTT
Gene:: TSGA10 (Varview), C2orf15 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.99151706del, NC_000002.11:g.99768169del, NG_050665.1:g.1752del

Select item 14906166316.

rs1490616631 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:99163184 (GRCh38)
2:99779647 (GRCh37)
Canonical SPDI:: NC_000002.12:99163183:A:G
Gene:: LIPT1 (Varview), MITD1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000069/1 (ALFA)
G=0.000036/5 (GnomAD)
G=0.000079/21 (TOPMED)
HGVS:: NC_000002.12:g.99163184A>G, NC_000002.11:g.99779647A>G, NG_050665.1:g.13230A>G

Select item 14904502227.

rs1490450222 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:99152191 (GRCh38)
2:99768654 (GRCh37)
Canonical SPDI:: NC_000002.12:99152190:A:T
Gene:: TSGA10 (Varview)
Functional Consequence:: genic_upstream_transcript_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_000002.12:g.99152191A>T, NC_000002.11:g.99768654A>T, NG_050665.1:g.2237A>T

Select item 14898891848.

rs1489889184 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:99158362 (GRCh38)
2:99774825 (GRCh37)
Canonical SPDI:: NC_000002.12:99158361:G:A
Gene:: LIPT1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_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_000002.12:g.99158362G>A, NC_000002.11:g.99774825G>A, NG_050665.1:g.8408G>A, NM_145198.3:c.-52G>A, NM_145198.2:c.-52G>A

Select item 14898375189.

rs1489837518 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:99159180 (GRCh38)
2:99775643 (GRCh37)
Canonical SPDI:: NC_000002.12:99159179:G:A,NC_000002.12:99159179:G:T
Gene:: LIPT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000002.12:g.99159180G>A, NC_000002.12:g.99159180G>T, NC_000002.11:g.99775643G>A, NC_000002.11:g.99775643G>T, NG_050665.1:g.9226G>A, NG_050665.1:g.9226G>T

Select item 148968132610.

rs1489681326 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:99161675 (GRCh38)
2:99778138 (GRCh37)
Canonical SPDI:: NC_000002.12:99161674:G:A
Gene:: LIPT1 (Varview), MITD1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
HGVS:: NC_000002.12:g.99161675G>A, NC_000002.11:g.99778138G>A, NG_050665.1:g.11721G>A

Select item 148931279111.

rs1489312791 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:99157345 (GRCh38)
2:99773808 (GRCh37)
Canonical SPDI:: NC_000002.12:99157344:A:G
Gene:: LIPT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.99157345A>G, NC_000002.11:g.99773808A>G, NG_050665.1:g.7391A>G

Select item 148881271812.

rs1488812718 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTGTA>- [Show Flanks]
Chromosome:: 2:99150840 (GRCh38)
2:99767303 (GRCh37)
Canonical SPDI:: NC_000002.12:99150838:ATTTGTA:A
Gene:: TSGA10 (Varview), C2orf15 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.99150840_99150845del, NC_000002.11:g.99767303_99767308del, NG_050665.1:g.886_891del, NM_144706.4:c.*6_*11del, NM_144706.3:c.*6_*11del, NM_144706.2:c.*6_*11del, NM_001317992.2:c.*6_*11del, NM_001317992.1:c.*6_*11del

Select item 148875742413.

rs1488757424 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 2:99165073 (GRCh38)
2:99781536 (GRCh37)
Canonical SPDI:: NC_000002.12:99165072:G:
Gene:: MITD1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000101/14 (GnomAD)
HGVS:: NC_000002.12:g.99165073del, NC_000002.11:g.99781536del, NG_050665.1:g.15119del

Select item 148833461714.

rs1488334617 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:99157811 (GRCh38)
2:99774274 (GRCh37)
Canonical SPDI:: NC_000002.12:99157810:T:C
Gene:: LIPT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.99157811T>C, NC_000002.11:g.99774274T>C, NG_050665.1:g.7857T>C

Select item 148795660315.

rs1487956603 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:99152319 (GRCh38)
2:99768782 (GRCh37)
Canonical SPDI:: NC_000002.12:99152318:C:T
Gene:: TSGA10 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000002.12:g.99152319C>T, NC_000002.11:g.99768782C>T, NG_050665.1:g.2365C>T

Select item 148764300516.

rs1487643005 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:99162496 (GRCh38)
2:99778959 (GRCh37)
Canonical SPDI:: NC_000002.12:99162495:T:C
Gene:: LIPT1 (Varview), MITD1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000021/3 (GnomAD)
C=0.000034/9 (TOPMED)
HGVS:: NC_000002.12:g.99162496T>C, NC_000002.11:g.99778959T>C, NG_050665.1:g.12542T>C, NM_015929.4:c.539T>C, NM_015929.3:c.539T>C, NM_145197.3:c.539T>C, NM_145197.2:c.539T>C, NM_145198.3:c.539T>C, NM_145198.2:c.539T>C, NM_145199.3:c.539T>C, NM_145199.2:c.539T>C, NR_037935.2:n.1024T>C, NR_037935.1:n.1024T>C, NM_001204830.2:c.539T>C, NM_001204830.1:c.539T>C, NR_037936.2:n.688T>C, NR_037936.1:n.700T>C, NM_145196.2:c.539T>C, NM_145196.1:c.539T>C, NP_057013.1:p.Leu180Ser, NP_660198.1:p.Leu180Ser, NP_660199.1:p.Leu180Ser, NP_660200.1:p.Leu180Ser, NP_001191759.1:p.Leu180Ser

Select item 148757591117.

rs1487575911 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:99157843 (GRCh38)
2:99774306 (GRCh37)
Canonical SPDI:: NC_000002.12:99157842:C:T
Gene:: LIPT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.00003/8 (TOPMED)
T=0.000342/1 (KOREAN)
HGVS:: NC_000002.12:g.99157843C>T, NC_000002.11:g.99774306C>T, NG_050665.1:g.7889C>T

Select item 148729674218.

rs1487296742 has merged into rs398042523 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:99161264 (GRCh38)
2:99777727 (GRCh37)
Canonical SPDI:: NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LIPT1 (Varview), MITD1 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.99161264_99161292del, NC_000002.12:g.99161267_99161292del, NC_000002.12:g.99161268_99161292del, NC_000002.12:g.99161269_99161292del, NC_000002.12:g.99161270_99161292del, NC_000002.12:g.99161271_99161292del, NC_000002.12:g.99161272_99161292del, NC_000002.12:g.99161273_99161292del, NC_000002.12:g.99161274_99161292del, NC_000002.12:g.99161275_99161292del, NC_000002.12:g.99161276_99161292del, NC_000002.12:g.99161277_99161292del, NC_000002.12:g.99161278_99161292del, NC_000002.12:g.99161279_99161292del, NC_000002.12:g.99161280_99161292del, NC_000002.12:g.99161281_99161292del, NC_000002.12:g.99161282_99161292del, NC_000002.12:g.99161283_99161292del, NC_000002.12:g.99161284_99161292del, NC_000002.12:g.99161285_99161292del, NC_000002.12:g.99161286_99161292del, NC_000002.12:g.99161287_99161292del, NC_000002.12:g.99161288_99161292del, NC_000002.12:g.99161289_99161292del, NC_000002.12:g.99161290_99161292del, NC_000002.12:g.99161292del, NC_000002.11:g.99777727_99777755del, NC_000002.11:g.99777730_99777755del, NC_000002.11:g.99777731_99777755del, NC_000002.11:g.99777732_99777755del, NC_000002.11:g.99777733_99777755del, NC_000002.11:g.99777734_99777755del, NC_000002.11:g.99777735_99777755del, NC_000002.11:g.99777736_99777755del, NC_000002.11:g.99777737_99777755del, NC_000002.11:g.99777738_99777755del, NC_000002.11:g.99777739_99777755del, NC_000002.11:g.99777740_99777755del, NC_000002.11:g.99777741_99777755del, NC_000002.11:g.99777742_99777755del, NC_000002.11:g.99777743_99777755del, NC_000002.11:g.99777744_99777755del, NC_000002.11:g.99777745_99777755del, NC_000002.11:g.99777746_99777755del, NC_000002.11:g.99777747_99777755del, NC_000002.11:g.99777748_99777755del, NC_000002.11:g.99777749_99777755del, NC_000002.11:g.99777750_99777755del, NC_000002.11:g.99777751_99777755del, NC_000002.11:g.99777752_99777755del, NC_000002.11:g.99777753_99777755del, NC_000002.11:g.99777755del, NG_050665.1:g.11310_11338del, NG_050665.1:g.11313_11338del, NG_050665.1:g.11314_11338del, NG_050665.1:g.11315_11338del, NG_050665.1:g.11316_11338del, NG_050665.1:g.11317_11338del, NG_050665.1:g.11318_11338del, NG_050665.1:g.11319_11338del, NG_050665.1:g.11320_11338del, NG_050665.1:g.11321_11338del, NG_050665.1:g.11322_11338del, NG_050665.1:g.11323_11338del, NG_050665.1:g.11324_11338del, NG_050665.1:g.11325_11338del, NG_050665.1:g.11326_11338del, NG_050665.1:g.11327_11338del, NG_050665.1:g.11328_11338del, NG_050665.1:g.11329_11338del, NG_050665.1:g.11330_11338del, NG_050665.1:g.11331_11338del, NG_050665.1:g.11332_11338del, NG_050665.1:g.11333_11338del, NG_050665.1:g.11334_11338del, NG_050665.1:g.11335_11338del, NG_050665.1:g.11336_11338del, NG_050665.1:g.11338del

Select item 148717669619.

rs1487176696 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 2:99162224 (GRCh38)
2:99778687 (GRCh37)
Canonical SPDI:: NC_000002.12:99162223:G:
Gene:: LIPT1 (Varview), MITD1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.99162224del, NC_000002.11:g.99778687del, NG_050665.1:g.12270del, NM_015929.4:c.267del, NM_015929.3:c.267del, NM_145197.3:c.267del, NM_145197.2:c.267del, NM_145198.3:c.267del, NM_145198.2:c.267del, NM_145199.3:c.267del, NM_145199.2:c.267del, NR_037935.2:n.752del, NR_037935.1:n.752del, NM_001204830.2:c.267del, NM_001204830.1:c.267del, NR_037936.2:n.416del, NR_037936.1:n.428del, NM_145196.2:c.267del, NM_145196.1:c.267del, NP_057013.1:p.Met89fs, NP_660198.1:p.Met89fs, NP_660199.1:p.Met89fs, NP_660200.1:p.Met89fs, NP_001191759.1:p.Met89fs

Select item 148654574820.

rs1486545748 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:99156260 (GRCh38)
2:99772724 (GRCh37)
Canonical SPDI:: NC_000002.12:99156260:A:AA
Gene:: LIPT1 (Varview), TSGA10 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000002.12:g.99156261dup, NC_000002.11:g.99772724dup, NG_050665.1:g.6307dup

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