SNP Links for Gene (Select 9553) - SNP

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Select item 14914777821.

rs1491477782 has merged into rs755725206 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTATACTCAGTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:27770653 (GRCh38)
2:27993520 (GRCh37)
Canonical SPDI:: NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTATACTCAGTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MRPL33 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.27770653_27770661del, NC_000002.12:g.27770654_27770661del, NC_000002.12:g.27770655_27770661del, NC_000002.12:g.27770656_27770661del, NC_000002.12:g.27770657_27770661del, NC_000002.12:g.27770658_27770661del, NC_000002.12:g.27770659_27770661del, NC_000002.12:g.27770660_27770661del, NC_000002.12:g.27770661del, NC_000002.12:g.27770661dup, NC_000002.12:g.27770660_27770661dup, NC_000002.12:g.27770659_27770661dup, NC_000002.12:g.27770658_27770661dup, NC_000002.12:g.27770657_27770661dup, NC_000002.12:g.27770656_27770661dup, NC_000002.12:g.27770655_27770661dup, NC_000002.12:g.27770642_27770661T[27]ATACTCAGTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.27770654_27770661dup, NC_000002.12:g.27770653_27770661dup, NC_000002.12:g.27770652_27770661dup, NC_000002.12:g.27770651_27770661dup, NC_000002.12:g.27770650_27770661dup, NC_000002.12:g.27770649_27770661dup, NC_000002.12:g.27770648_27770661dup, NC_000002.12:g.27770647_27770661dup, NC_000002.12:g.27770646_27770661dup, NC_000002.12:g.27770645_27770661dup, NC_000002.12:g.27770644_27770661dup, NC_000002.12:g.27770643_27770661dup, NC_000002.12:g.27770661_27770662insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.27770661_27770662insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.27993520_27993528del, NC_000002.11:g.27993521_27993528del, NC_000002.11:g.27993522_27993528del, NC_000002.11:g.27993523_27993528del, NC_000002.11:g.27993524_27993528del, NC_000002.11:g.27993525_27993528del, NC_000002.11:g.27993526_27993528del, NC_000002.11:g.27993527_27993528del, NC_000002.11:g.27993528del, NC_000002.11:g.27993528dup, NC_000002.11:g.27993527_27993528dup, NC_000002.11:g.27993526_27993528dup, NC_000002.11:g.27993525_27993528dup, NC_000002.11:g.27993524_27993528dup, NC_000002.11:g.27993523_27993528dup, NC_000002.11:g.27993522_27993528dup, NC_000002.11:g.27993509_27993528T[27]ATACTCAGTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.27993521_27993528dup, NC_000002.11:g.27993520_27993528dup, NC_000002.11:g.27993519_27993528dup, NC_000002.11:g.27993518_27993528dup, NC_000002.11:g.27993517_27993528dup, NC_000002.11:g.27993516_27993528dup, NC_000002.11:g.27993515_27993528dup, NC_000002.11:g.27993514_27993528dup, NC_000002.11:g.27993513_27993528dup, NC_000002.11:g.27993512_27993528dup, NC_000002.11:g.27993511_27993528dup, NC_000002.11:g.27993510_27993528dup, NC_000002.11:g.27993528_27993529insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.27993528_27993529insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14913307132.

rs1491330713 [Homo sapiens]

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

Select item 14910100553.

rs1491010055 has merged into rs67199907 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:27775364 (GRCh38)
2:27998231 (GRCh37)
Canonical SPDI:: NC_000002.12:27775350:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:27775350:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:27775350:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:27775350:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:27775350:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:27775350:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:27775350:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27775350:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27775350:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27775350:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27775350:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27775350:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27775350:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MRPL33 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.27775364_27775369del, NC_000002.12:g.27775366_27775369del, NC_000002.12:g.27775367_27775369del, NC_000002.12:g.27775368_27775369del, NC_000002.12:g.27775369del, NC_000002.12:g.27775369dup, NC_000002.12:g.27775368_27775369dup, NC_000002.12:g.27775367_27775369dup, NC_000002.12:g.27775366_27775369dup, NC_000002.12:g.27775365_27775369dup, NC_000002.12:g.27775364_27775369dup, NC_000002.12:g.27775362_27775369dup, NC_000002.12:g.27775360_27775369dup, NC_000002.11:g.27998231_27998236del, NC_000002.11:g.27998233_27998236del, NC_000002.11:g.27998234_27998236del, NC_000002.11:g.27998235_27998236del, NC_000002.11:g.27998236del, NC_000002.11:g.27998236dup, NC_000002.11:g.27998235_27998236dup, NC_000002.11:g.27998234_27998236dup, NC_000002.11:g.27998233_27998236dup, NC_000002.11:g.27998232_27998236dup, NC_000002.11:g.27998231_27998236dup, NC_000002.11:g.27998229_27998236dup, NC_000002.11:g.27998227_27998236dup

Select item 14905979044.

rs1490597904 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:27770473 (GRCh38)
2:27993340 (GRCh37)
Canonical SPDI:: NC_000002.12:27770472:A:G
Gene:: MRPL33 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.27770473A>G, NC_000002.11:g.27993340A>G

Select item 14903722435.

rs1490372243 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:27776402 (GRCh38)
2:27999269 (GRCh37)
Canonical SPDI:: NC_000002.12:27776401:T:C
Gene:: MRPL33 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000034/9 (TOPMED)
HGVS:: NC_000002.12:g.27776402T>C, NC_000002.11:g.27999269T>C

Select item 14901096816.

rs1490109681 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:27771644 (GRCh38)
2:27994511 (GRCh37)
Canonical SPDI:: NC_000002.12:27771643:A:G
Gene:: MRPL33 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.27771644A>G, NC_000002.11:g.27994511A>G

Select item 14900410427.

rs1490041042 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27773595 (GRCh38)
2:27996462 (GRCh37)
Canonical SPDI:: NC_000002.12:27773594:G:A
Gene:: MRPL33 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000002.12:g.27773595G>A, NC_000002.11:g.27996462G>A

Select item 14897564058.

rs1489756405 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27770744 (GRCh38)
2:27993611 (GRCh37)
Canonical SPDI:: NC_000002.12:27770743:G:A
Gene:: MRPL33 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.27770744G>A, NC_000002.11:g.27993611G>A

Select item 14894134819.

rs1489413481 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27778857 (GRCh38)
2:28001724 (GRCh37)
Canonical SPDI:: NC_000002.12:27778856:C:T
Gene:: MRPL33 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.27778857C>T, NC_000002.11:g.28001724C>T

Select item 148919247310.

rs1489192473 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:27771956 (GRCh38)
2:27994823 (GRCh37)
Canonical SPDI:: NC_000002.12:27771955:C:G
Gene:: MRPL33 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27771956C>G, NC_000002.11:g.27994823C>G

Select item 148882798611.

rs1488827986 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:27771258 (GRCh38)
2:27994125 (GRCh37)
Canonical SPDI:: NC_000002.12:27771257:T:A
Gene:: MRPL33 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.27771258T>A, NC_000002.11:g.27994125T>A

Select item 148786753912.

rs1487867539 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:27779493 (GRCh38)
2:28002360 (GRCh37)
Canonical SPDI:: NC_000002.12:27779492:G:T
Gene:: MRPL33 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.27779493G>T, NC_000002.11:g.28002360G>T, NM_004891.4:c.*11G>T, NM_004891.3:c.*11G>T, NM_145330.3:c.102G>T, NM_145330.2:c.102G>T, NP_663303.1:p.Leu34Phe

Select item 148744695913.

rs1487446959 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27777929 (GRCh38)
2:28000796 (GRCh37)
Canonical SPDI:: NC_000002.12:27777928:G:A
Gene:: MRPL33 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.27777929G>A, NC_000002.11:g.28000796G>A

Select item 148716035814.

rs1487160358 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27770223 (GRCh38)
2:27993090 (GRCh37)
Canonical SPDI:: NC_000002.12:27770222:G:A
Gene:: MRPL33 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.27770223G>A, NC_000002.11:g.27993090G>A

Select item 148670376815.

rs1486703768 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27774057 (GRCh38)
2:27996924 (GRCh37)
Canonical SPDI:: NC_000002.12:27774056:G:A
Gene:: MRPL33 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.27774057G>A, NC_000002.11:g.27996924G>A

Select item 148597700216.

rs1485977002 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:27772685 (GRCh38)
2:27995552 (GRCh37)
Canonical SPDI:: NC_000002.12:27772684:A:G
Gene:: MRPL33 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.27772685A>G, NC_000002.11:g.27995552A>G, NM_004891.4:c.34A>G, NM_004891.3:c.34A>G, NM_145330.3:c.34A>G, NM_145330.2:c.34A>G, NP_004882.1:p.Lys12Glu, NP_663303.1:p.Lys12Glu

Select item 148581679117.

rs1485816791 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 2:27776238 (GRCh38)
2:27999105 (GRCh37)
Canonical SPDI:: NC_000002.12:27776236:TTT:T
Gene:: MRPL33 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.27776238_27776239del, NC_000002.11:g.27999105_27999106del

Select item 148568941618.

rs1485689416 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27770768 (GRCh38)
2:27993635 (GRCh37)
Canonical SPDI:: NC_000002.12:27770767:G:A
Gene:: MRPL33 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27770768G>A, NC_000002.11:g.27993635G>A

Select item 148559252719.

rs1485592527 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 2:27772414 (GRCh38)
2:27995281 (GRCh37)
Canonical SPDI:: NC_000002.12:27772413:G:
Gene:: MRPL33 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.27772414del, NC_000002.11:g.27995281del

Select item 148552619520.

rs1485526195 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:27777228 (GRCh38)
2:28000095 (GRCh37)
Canonical SPDI:: NC_000002.12:27777227:G:C
Gene:: MRPL33 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.27777228G>C, NC_000002.11:g.28000095G>C

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