SNP Links for Gene (Select 4547) - SNP

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Select item 14915785951.

rs1491578595 has merged into rs567380343 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:99566306 (GRCh38)
4:100487463 (GRCh37)
Canonical SPDI:: NC_000004.12:99566297:AAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000004.12:99566297:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000004.12:99566297:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:99566297:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:99566297:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:99566297:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:99566297:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:99566297:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:99566297:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:99566297:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:99566297:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:99566297:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:99566297:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:99566297:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:99566297:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:99566297:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:99566297:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:99566297:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:99566297:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:99566297:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:99566297:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:99566297:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:99566297:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:99566297:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:99566297:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:99566297:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MTTP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.1855/929 (1000Genomes)
HGVS:: NC_000004.12:g.99566306_99566314del, NC_000004.12:g.99566307_99566314del, NC_000004.12:g.99566308_99566314del, NC_000004.12:g.99566309_99566314del, NC_000004.12:g.99566310_99566314del, NC_000004.12:g.99566311_99566314del, NC_000004.12:g.99566312_99566314del, NC_000004.12:g.99566313_99566314del, NC_000004.12:g.99566314del, NC_000004.12:g.99566314dup, NC_000004.12:g.99566313_99566314dup, NC_000004.12:g.99566312_99566314dup, NC_000004.12:g.99566311_99566314dup, NC_000004.12:g.99566310_99566314dup, NC_000004.12:g.99566309_99566314dup, NC_000004.12:g.99566308_99566314dup, NC_000004.12:g.99566307_99566314dup, NC_000004.12:g.99566306_99566314dup, NC_000004.12:g.99566305_99566314dup, NC_000004.12:g.99566304_99566314dup, NC_000004.12:g.99566303_99566314dup, NC_000004.12:g.99566302_99566314dup, NC_000004.12:g.99566300_99566314dup, NC_000004.12:g.99566314_99566315insAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.99566314_99566315insAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.99566314_99566315insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.100487463_100487471del, NC_000004.11:g.100487464_100487471del, NC_000004.11:g.100487465_100487471del, NC_000004.11:g.100487466_100487471del, NC_000004.11:g.100487467_100487471del, NC_000004.11:g.100487468_100487471del, NC_000004.11:g.100487469_100487471del, NC_000004.11:g.100487470_100487471del, NC_000004.11:g.100487471del, NC_000004.11:g.100487471dup, NC_000004.11:g.100487470_100487471dup, NC_000004.11:g.100487469_100487471dup, NC_000004.11:g.100487468_100487471dup, NC_000004.11:g.100487467_100487471dup, NC_000004.11:g.100487466_100487471dup, NC_000004.11:g.100487465_100487471dup, NC_000004.11:g.100487464_100487471dup, NC_000004.11:g.100487463_100487471dup, NC_000004.11:g.100487462_100487471dup, NC_000004.11:g.100487461_100487471dup, NC_000004.11:g.100487460_100487471dup, NC_000004.11:g.100487459_100487471dup, NC_000004.11:g.100487457_100487471dup, NC_000004.11:g.100487471_100487472insAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.100487471_100487472insAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.100487471_100487472insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_011469.1:g.7224_7232del, NG_011469.1:g.7225_7232del, NG_011469.1:g.7226_7232del, NG_011469.1:g.7227_7232del, NG_011469.1:g.7228_7232del, NG_011469.1:g.7229_7232del, NG_011469.1:g.7230_7232del, NG_011469.1:g.7231_7232del, NG_011469.1:g.7232del, NG_011469.1:g.7232dup, NG_011469.1:g.7231_7232dup, NG_011469.1:g.7230_7232dup, NG_011469.1:g.7229_7232dup, NG_011469.1:g.7228_7232dup, NG_011469.1:g.7227_7232dup, NG_011469.1:g.7226_7232dup, NG_011469.1:g.7225_7232dup, NG_011469.1:g.7224_7232dup, NG_011469.1:g.7223_7232dup, NG_011469.1:g.7222_7232dup, NG_011469.1:g.7221_7232dup, NG_011469.1:g.7220_7232dup, NG_011469.1:g.7218_7232dup, NG_011469.1:g.7232_7233insAAAAAAAAAAAAAAAAAAA, NG_011469.1:g.7232_7233insAAAAAAAAAAAAAAAAAAAAAAA, NG_011469.1:g.7232_7233insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_041774.1:g.2752_2760del, NG_041774.1:g.2753_2760del, NG_041774.1:g.2754_2760del, NG_041774.1:g.2755_2760del, NG_041774.1:g.2756_2760del, NG_041774.1:g.2757_2760del, NG_041774.1:g.2758_2760del, NG_041774.1:g.2759_2760del, NG_041774.1:g.2760del, NG_041774.1:g.2760dup, NG_041774.1:g.2759_2760dup, NG_041774.1:g.2758_2760dup, NG_041774.1:g.2757_2760dup, NG_041774.1:g.2756_2760dup, NG_041774.1:g.2755_2760dup, NG_041774.1:g.2754_2760dup, NG_041774.1:g.2753_2760dup, NG_041774.1:g.2752_2760dup, NG_041774.1:g.2751_2760dup, NG_041774.1:g.2750_2760dup, NG_041774.1:g.2749_2760dup, NG_041774.1:g.2748_2760dup, NG_041774.1:g.2746_2760dup, NG_041774.1:g.2760_2761insTTTTTTTTTTTTTTTTTTT, NG_041774.1:g.2760_2761insTTTTTTTTTTTTTTTTTTTTTTT, NG_041774.1:g.2760_2761insTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915550902.

rs1491555090 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:99580574 (GRCh38)
4:100501731 (GRCh37)
Canonical SPDI:: NC_000004.12:99580573:CA:
Gene:: MTTP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00076/9 (ALFA)
-=0.00121/29 (TOMMO)
HGVS:: NC_000004.12:g.99580574_99580575del, NC_000004.11:g.100501731_100501732del, NG_011469.1:g.21492_21493del

Select item 14915491563.

rs1491549156 [Homo sapiens]

Variant type:: INS
Alleles:: ->GT,TATATATATGTTCATATATATT,TG,TT [Show Flanks]
Chromosome:: 4:99589031 (GRCh38)
4:100510189 (GRCh37)
Canonical SPDI:: NC_000004.12:99589031::GT,NC_000004.12:99589031::TATATATATGTTCATATATATT,NC_000004.12:99589031::TG,NC_000004.12:99589031::TT
Gene:: MTTP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TG=0./0 (ALFA)
HGVS:: NC_000004.12:g.99589031_99589032insGT, NC_000004.12:g.99589031_99589032insTATATATATGTTCATATATATT, NC_000004.12:g.99589031_99589032insTG, NC_000004.12:g.99589031_99589032insTT, NC_000004.11:g.100510188_100510189insGT, NC_000004.11:g.100510188_100510189insTATATATATGTTCATATATATT, NC_000004.11:g.100510188_100510189insTG, NC_000004.11:g.100510188_100510189insTT, NG_011469.1:g.29949_29950insGT, NG_011469.1:g.29949_29950insTATATATATGTTCATATATATT, NG_011469.1:g.29949_29950insTG, NG_011469.1:g.29949_29950insTT

Select item 14915457784.

rs1491545778 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 4:99562187 (GRCh38)
4:100483344 (GRCh37)
Canonical SPDI:: NC_000004.12:99562186:TT:
Gene:: MTTP (Varview), TRMT10A (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00031/2 (1000Genomes)
-=0.00051/44 (GnomAD)
HGVS:: NC_000004.12:g.99562187_99562188del, NC_000004.11:g.100483344_100483345del, NG_011469.1:g.3105_3106del, NG_041774.1:g.6870_6871del

Select item 14914735745.

rs1491473574 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAA,GAAA [Show Flanks]
Chromosome:: 4:99577605 (GRCh38)
4:100498763 (GRCh37)
Canonical SPDI:: NC_000004.12:99577605:A:AGAA,NC_000004.12:99577605:A:AGAAA
Gene:: MTTP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAAA=0./0 (ALFA)
AGA=0.00836/135 (TOMMO)
HGVS:: NC_000004.12:g.99577606_99577607insGAA, NC_000004.12:g.99577606_99577607insGAAA, NC_000004.11:g.100498763_100498764insGAA, NC_000004.11:g.100498763_100498764insGAAA, NG_011469.1:g.18524_18525insGAA, NG_011469.1:g.18524_18525insGAAA

Select item 14914233816.

rs1491423381 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 4:99562514 (GRCh38)
4:100483671 (GRCh37)
Canonical SPDI:: NC_000004.12:99562513:CC:
Gene:: MTTP (Varview), TRMT10A (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.99562514_99562515del, NC_000004.11:g.100483671_100483672del, NG_011469.1:g.3432_3433del, NG_041774.1:g.6543_6544del

Select item 14913825087.

rs1491382508 has merged into rs71600263 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,AA,AAAA [Show Flanks]
Chromosome:: 4:99621422 (GRCh38)
4:100542579 (GRCh37)
Canonical SPDI:: NC_000004.12:99621415:AAAAAAAAA:AAAAAA,NC_000004.12:99621415:AAAAAAAAA:AAAAAAAA,NC_000004.12:99621415:AAAAAAAAA:AAAAAAAAAA
Gene:: MTTP (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0.010839/156 (ALFA)
A=0.000035/1 (TOMMO)
-=0.071674/354 (1000Genomes)
-=0.075462/19974 (TOPMED)
HGVS:: NC_000004.12:g.99621422_99621424del, NC_000004.12:g.99621424del, NC_000004.12:g.99621424dup, NC_000004.11:g.100542579_100542581del, NC_000004.11:g.100542581del, NC_000004.11:g.100542581dup, NG_011469.1:g.62340_62342del, NG_011469.1:g.62342del, NG_011469.1:g.62342dup

Select item 14913441468.

rs1491344146 has merged into rs989324185 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT [Show Flanks]
Chromosome:: 4:99562201 (GRCh38)
4:100483358 (GRCh37)
Canonical SPDI:: NC_000004.12:99562187:TATATATATATATAT:TATATATATATAT,NC_000004.12:99562187:TATATATATATATAT:TATATATATATATATAT,NC_000004.12:99562187:TATATATATATATAT:TATATATATATATATATAT,NC_000004.12:99562187:TATATATATATATAT:TATATATATATATATATATAT,NC_000004.12:99562187:TATATATATATATAT:TATATATATATATATATATATAT,NC_000004.12:99562187:TATATATATATATAT:TATATATATATATATATATATATAT
Gene:: MTTP (Varview), TRMT10A (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATATATATAT=0./0 (ALFA)
HGVS:: NC_000004.12:g.99562189AT[6], NC_000004.12:g.99562189AT[8], NC_000004.12:g.99562189AT[9], NC_000004.12:g.99562189AT[10], NC_000004.12:g.99562189AT[11], NC_000004.12:g.99562189AT[12], NC_000004.11:g.100483346AT[6], NC_000004.11:g.100483346AT[8], NC_000004.11:g.100483346AT[9], NC_000004.11:g.100483346AT[10], NC_000004.11:g.100483346AT[11], NC_000004.11:g.100483346AT[12], NG_011469.1:g.3107AT[6], NG_011469.1:g.3107AT[8], NG_011469.1:g.3107AT[9], NG_011469.1:g.3107AT[10], NG_011469.1:g.3107AT[11], NG_011469.1:g.3107AT[12], NG_041774.1:g.6857TA[6], NG_041774.1:g.6857TA[8], NG_041774.1:g.6857TA[9], NG_041774.1:g.6857TA[10], NG_041774.1:g.6857TA[11], NG_041774.1:g.6857TA[12]

Select item 14913201629.

rs1491320162 has merged into rs1169542003 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 4:99589080 (GRCh38)
4:100510237 (GRCh37)
Canonical SPDI:: NC_000004.12:99589073:TTTTTTTTTT:TTTTTT,NC_000004.12:99589073:TTTTTTTTTT:TTTTTTTT,NC_000004.12:99589073:TTTTTTTTTT:TTTTTTTTT,NC_000004.12:99589073:TTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:99589073:TTTTTTTTTT:TTTTTTTTTTTT
Gene:: MTTP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.00171/6 (GnomAD)
-=0.25/9 (GENOME_DK)
HGVS:: NC_000004.12:g.99589080_99589083del, NC_000004.12:g.99589082_99589083del, NC_000004.12:g.99589083del, NC_000004.12:g.99589083dup, NC_000004.12:g.99589082_99589083dup, NC_000004.11:g.100510237_100510240del, NC_000004.11:g.100510239_100510240del, NC_000004.11:g.100510240del, NC_000004.11:g.100510240dup, NC_000004.11:g.100510239_100510240dup, NG_011469.1:g.29998_30001del, NG_011469.1:g.30000_30001del, NG_011469.1:g.30001del, NG_011469.1:g.30001dup, NG_011469.1:g.30000_30001dup

Select item 149120322210.

rs1491203222 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:99577605 (GRCh38)
4:100498762 (GRCh37)
Canonical SPDI:: NC_000004.12:99577604:CA:
Gene:: MTTP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0054/64 (ALFA)
-=0.00196/55 (TOMMO)
HGVS:: NC_000004.12:g.99577605_99577606del, NC_000004.11:g.100498762_100498763del, NG_011469.1:g.18523_18524del

Select item 149112254811.

rs1491122548 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 4:99562514 (GRCh38)
4:100483672 (GRCh37)
Canonical SPDI:: NC_000004.12:99562514:CTT:CTTCTT
Gene:: MTTP (Varview), TRMT10A (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTTCTT=0./0 (ALFA)
CTT=0.00017/17 (GnomAD)
CTT=0.00021/4 (TOMMO)
HGVS:: NC_000004.12:g.99562515_99562517dup, NC_000004.11:g.100483672_100483674dup, NG_011469.1:g.3433_3435dup, NG_041774.1:g.6541_6543dup

Select item 149109209712.

rs1491092097 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 4:99564177 (GRCh38)
4:100485334 (GRCh37)
Canonical SPDI:: NC_000004.12:99564175:TGT:T
Gene:: MTTP (Varview), TRMT10A (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.00003/8 (TOPMED)
HGVS:: NC_000004.12:g.99564177_99564178del, NC_000004.11:g.100485334_100485335del, NG_011469.1:g.5095_5096del, NM_000253.4:c.-162_-161del, NM_000253.3:c.-162_-161del, NM_000253.2:c.-162_-161del, NM_001300785.2:c.-249_-248del, NM_001300785.1:c.82_83del, NG_041774.1:g.4881_4882del, NG_083445.1:g.1135_1136del

Select item 149107781613.

rs1491077816 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 4:99605889 (GRCh38)
4:100527046 (GRCh37)
Canonical SPDI:: NC_000004.12:99605887:TAT:T
Gene:: MTTP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.99605889_99605890del, NC_000004.11:g.100527046_100527047del, NG_011469.1:g.46807_46808del

Select item 149104983514.

rs1491049835 has merged into rs10630406 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:99576712 (GRCh38)
4:100497869 (GRCh37)
Canonical SPDI:: NC_000004.12:99576694:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:99576694:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:99576694:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:99576694:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:99576694:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:99576694:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:99576694:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:99576694:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:99576694:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:99576694:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:99576694:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:99576694:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MTTP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000004.12:g.99576712_99576718del, NC_000004.12:g.99576713_99576718del, NC_000004.12:g.99576714_99576718del, NC_000004.12:g.99576717_99576718del, NC_000004.12:g.99576718del, NC_000004.12:g.99576718dup, NC_000004.12:g.99576717_99576718dup, NC_000004.12:g.99576716_99576718dup, NC_000004.12:g.99576715_99576718dup, NC_000004.12:g.99576714_99576718dup, NC_000004.12:g.99576713_99576718dup, NC_000004.12:g.99576712_99576718dup, NC_000004.11:g.100497869_100497875del, NC_000004.11:g.100497870_100497875del, NC_000004.11:g.100497871_100497875del, NC_000004.11:g.100497874_100497875del, NC_000004.11:g.100497875del, NC_000004.11:g.100497875dup, NC_000004.11:g.100497874_100497875dup, NC_000004.11:g.100497873_100497875dup, NC_000004.11:g.100497872_100497875dup, NC_000004.11:g.100497871_100497875dup, NC_000004.11:g.100497870_100497875dup, NC_000004.11:g.100497869_100497875dup, NG_011469.1:g.17630_17636del, NG_011469.1:g.17631_17636del, NG_011469.1:g.17632_17636del, NG_011469.1:g.17635_17636del, NG_011469.1:g.17636del, NG_011469.1:g.17636dup, NG_011469.1:g.17635_17636dup, NG_011469.1:g.17634_17636dup, NG_011469.1:g.17633_17636dup, NG_011469.1:g.17632_17636dup, NG_011469.1:g.17631_17636dup, NG_011469.1:g.17630_17636dup

Select item 149104484915.

rs1491044849 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 4:99566297 (GRCh38)
4:100487454 (GRCh37)
Canonical SPDI:: NC_000004.12:99566295:AGA:A
Gene:: MTTP (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.00009/1 (ALFA)
HGVS:: NC_000004.12:g.99566297_99566298del, NC_000004.11:g.100487454_100487455del, NG_011469.1:g.7215_7216del, NG_041774.1:g.2761_2762del

Select item 149092792516.

rs1490927925 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:99586304 (GRCh38)
4:100507461 (GRCh37)
Canonical SPDI:: NC_000004.12:99586303:G:T
Gene:: MTTP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000684/2 (KOREAN)
HGVS:: NC_000004.12:g.99586304G>T, NC_000004.11:g.100507461G>T, NG_011469.1:g.27222G>T

Select item 149088423917.

rs1490884239 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:99615743 (GRCh38)
4:100536900 (GRCh37)
Canonical SPDI:: NC_000004.12:99615742:T:C
Gene:: MTTP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.99615743T>C, NC_000004.11:g.100536900T>C, NG_011469.1:g.56661T>C

Select item 149079538618.

rs1490795386 [Homo sapiens]

Variant type:: SNV:
Alleles:: C>T
Chromosome:: no mapping
Canonical SPDI:

Select item 149048115719.

rs1490481157 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:99570760 (GRCh38)
4:100491917 (GRCh37)
Canonical SPDI:: NC_000004.12:99570759:A:T
Gene:: MTTP (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.99570760A>T, NC_000004.11:g.100491917A>T, NG_011469.1:g.11678A>T

Select item 149043450820.

rs1490434508 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:99562219 (GRCh38)
4:100483376 (GRCh37)
Canonical SPDI:: NC_000004.12:99562218:G:C
Gene:: MTTP (Varview), TRMT10A (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000004.12:g.99562219G>C, NC_000004.11:g.100483376G>C, NG_011469.1:g.3137G>C, NG_041774.1:g.6839C>G

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