SNP Links for Gene (Select 692247) - SNP

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Select item 14907521051.

rs1490752105 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:560485 (GRCh38)
11:560485 (GRCh37)
Canonical SPDI:: NC_000011.10:560484:C:T
Gene:: RASSF7 (Varview), LMNTD2 (Varview), LMNTD2-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,5_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.560485C>T, NC_000011.9:g.560485C>T, NT_187586.1:g.90140C>T, XM_011519965.3:c.-901G>A, XM_011519967.3:c.-901G>A, XM_017017479.3:c.-901G>A, XM_047426712.1:c.-901G>A, XM_047426714.1:c.-901G>A

Select item 14892344482.

rs1489234448 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:559783 (GRCh38)
11:559783 (GRCh37)
Canonical SPDI:: NC_000011.10:559782:A:G
Gene:: RASSF7 (Varview), LMNTD2 (Varview), LMNTD2-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00011/29 (TOPMED)
G=0.000121/17 (GnomAD)
HGVS:: NC_000011.10:g.559783A>G, NC_000011.9:g.559783A>G, NT_187586.1:g.89442A>G, XM_011519965.3:c.-199T>C, XM_011519967.3:c.-199T>C, XM_017017479.3:c.-199T>C, XM_047426712.1:c.-199T>C, XM_047426714.1:c.-199T>C, NR_147607.1:n.220A>G, NR_147608.1:n.212A>G

Select item 14887197493.

rs1488719749 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:558047 (GRCh38)
11:558047 (GRCh37)
Canonical SPDI:: NC_000011.10:558046:G:A,NC_000011.10:558046:G:T
Gene:: LMNTD2 (Varview), LMNTD2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,intron_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0./0 (GnomAD)
HGVS:: NC_000011.10:g.558047G>A, NC_000011.10:g.558047G>T, NC_000011.9:g.558047G>A, NC_000011.9:g.558047G>T, NT_187586.1:g.87706G>A, NT_187586.1:g.87706G>T, XM_011519965.3:c.611C>T, XM_011519965.3:c.611C>A, XM_011519965.2:c.611C>T, XM_011519965.2:c.611C>A, XM_011519965.1:c.428C>T, XM_011519965.1:c.428C>A, XM_011519967.3:c.611C>T, XM_011519967.3:c.611C>A, XM_011519967.2:c.611C>T, XM_011519967.2:c.611C>A, XM_011519967.1:c.428C>T, XM_011519967.1:c.428C>A, XM_017017479.3:c.611C>T, XM_017017479.3:c.611C>A, XM_017017479.2:c.611C>T, XM_017017479.2:c.611C>A, XM_017017479.1:c.611C>T, XM_017017479.1:c.611C>A, XM_047426714.1:c.611C>T, XM_047426714.1:c.611C>A, XM_047426713.1:c.407C>T, XM_047426713.1:c.407C>A, XP_011518267.2:p.Ser204Leu, XP_011518267.2:p.Ser204Ter, XP_011518269.2:p.Ser204Leu, XP_011518269.2:p.Ser204Ter, XP_016872968.1:p.Ser204Leu, XP_016872968.1:p.Ser204Ter, XP_047282670.1:p.Ser204Leu, XP_047282670.1:p.Ser204Ter, XP_047282669.1:p.Ser136Leu, XP_047282669.1:p.Ser136Ter

Select item 14874156644.

rs1487415664 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:560346 (GRCh38)
11:560346 (GRCh37)
Canonical SPDI:: NC_000011.10:560345:G:A
Gene:: RASSF7 (Varview), LMNTD2 (Varview), LMNTD2-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,5_prime_UTR_variant,500B_downstream_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_000011.10:g.560346G>A, NC_000011.9:g.560346G>A, NT_187586.1:g.90001G>A, XM_011519965.3:c.-762C>T, XM_011519967.3:c.-762C>T, XM_017017479.3:c.-762C>T, XM_047426712.1:c.-762C>T, XM_047426714.1:c.-762C>T

Select item 14872785465.

rs1487278546 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:560427 (GRCh38)
11:560427 (GRCh37)
Canonical SPDI:: NC_000011.10:560426:G:A
Gene:: RASSF7 (Varview), LMNTD2 (Varview), LMNTD2-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,5_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.560427G>A, NC_000011.9:g.560427G>A, NT_187586.1:g.90082G>A, XM_011519965.3:c.-843C>T, XM_011519967.3:c.-843C>T, XM_017017479.3:c.-843C>T, XM_047426712.1:c.-843C>T, XM_047426714.1:c.-843C>T

Select item 14857272756.

rs1485727275 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:559007 (GRCh38)
11:559007 (GRCh37)
Canonical SPDI:: NC_000011.10:559006:C:T
Gene:: RASSF7 (Varview), LMNTD2 (Varview), LMNTD2-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.559007C>T, NC_000011.9:g.559007C>T, NT_187586.1:g.88666C>T

Select item 14853966997.

rs1485396699 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 11:558184 (GRCh38)
11:558184 (GRCh37)
Canonical SPDI:: NC_000011.10:558183:CC:C
Gene:: LMNTD2 (Varview), LMNTD2-AS1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000011.10:g.558185del, NC_000011.9:g.558185del, NT_187586.1:g.87844del, XM_011519965.3:c.580del, XM_011519965.2:c.580del, XM_011519965.1:c.397del, XM_011519967.3:c.580del, XM_011519967.2:c.580del, XM_011519967.1:c.397del, XM_017017479.3:c.580del, XM_017017479.2:c.580del, XM_017017479.1:c.580del, NM_173573.3:c.376del, NM_173573.2:c.376del, XM_047426712.1:c.580del, XM_047426714.1:c.580del, XM_047426713.1:c.376del, XP_011518267.2:p.Glu194fs, XP_011518269.2:p.Glu194fs, XP_016872968.1:p.Glu194fs, NP_775844.2:p.Glu126fs, XP_047282668.1:p.Glu194fs, XP_047282670.1:p.Glu194fs, XP_047282669.1:p.Glu126fs

Select item 14851805778.

rs1485180577 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 11:559175 (GRCh38)
11:559175 (GRCh37)
Canonical SPDI:: NC_000011.10:559174:AT:
Gene:: RASSF7 (Varview), LMNTD2 (Varview), LMNTD2-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.559175_559176del, NC_000011.9:g.559175_559176del, NT_187586.1:g.88834_88835del

Select item 14848367739.

rs1484836773 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:559509 (GRCh38)
11:559509 (GRCh37)
Canonical SPDI:: NC_000011.10:559508:T:C
Gene:: RASSF7 (Varview), LMNTD2 (Varview), LMNTD2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.559509T>C, NC_000011.9:g.559509T>C, NT_187586.1:g.89168T>C, XM_011519965.3:c.76A>G, XM_011519965.2:c.76A>G, XM_011519967.3:c.76A>G, XM_011519967.2:c.76A>G, XM_017017479.3:c.76A>G, XM_017017479.2:c.76A>G, XM_017017479.1:c.76A>G, XM_047426712.1:c.76A>G, XM_047426714.1:c.76A>G, NR_147608.1:n.33T>C, XP_011518267.2:p.Thr26Ala, XP_011518269.2:p.Thr26Ala, XP_016872968.1:p.Thr26Ala, XP_047282668.1:p.Thr26Ala, XP_047282670.1:p.Thr26Ala

Select item 148397351710.

rs1483973517 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:560210 (GRCh38)
11:560210 (GRCh37)
Canonical SPDI:: NC_000011.10:560209:C:T
Gene:: RASSF7 (Varview), LMNTD2 (Varview), LMNTD2-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.560210C>T, NC_000011.9:g.560210C>T, NT_187586.1:g.89865C>T, XM_011519965.3:c.-626G>A, XM_011519967.3:c.-626G>A, XM_017017479.3:c.-626G>A, XM_047426712.1:c.-626G>A, XM_047426714.1:c.-626G>A

Select item 148362692011.

rs1483626920 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:560504 (GRCh38)
11:560504 (GRCh37)
Canonical SPDI:: NC_000011.10:560503:C:T
Gene:: RASSF7 (Varview), LMNTD2 (Varview), LMNTD2-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000011.10:g.560504C>T, NC_000011.9:g.560504C>T, NT_187586.1:g.90159C>T, XM_011519965.3:c.-920G>A, XM_011519967.3:c.-920G>A, XM_017017479.3:c.-920G>A, XM_047426712.1:c.-920G>A, XM_047426714.1:c.-920G>A

Select item 148323817812.

rs1483238178 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:560550 (GRCh38)
11:560550 (GRCh37)
Canonical SPDI:: NC_000011.10:560549:G:A,NC_000011.10:560549:G:C
Gene:: RASSF7 (Varview), LMNTD2 (Varview), LMNTD2-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.560550G>A, NC_000011.10:g.560550G>C, NC_000011.9:g.560550G>A, NC_000011.9:g.560550G>C, NT_187586.1:g.90205G>A, NT_187586.1:g.90205G>C, XM_011519965.3:c.-966C>T, XM_011519965.3:c.-966C>G, XM_011519967.3:c.-966C>T, XM_011519967.3:c.-966C>G, XM_017017479.3:c.-966C>T, XM_017017479.3:c.-966C>G, XM_047426712.1:c.-966C>T, XM_047426712.1:c.-966C>G, XM_047426714.1:c.-966C>T, XM_047426714.1:c.-966C>G

Select item 148319933313.

rs1483199333 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:559844 (GRCh38)
11:559844 (GRCh37)
Canonical SPDI:: NC_000011.10:559843:C:T
Gene:: RASSF7 (Varview), LMNTD2 (Varview), LMNTD2-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,non_coding_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.559844C>T, NC_000011.9:g.559844C>T, NT_187586.1:g.89503C>T, XM_011519965.3:c.-260G>A, XM_011519967.3:c.-260G>A, XM_017017479.3:c.-260G>A, XM_047426712.1:c.-260G>A, XM_047426714.1:c.-260G>A, NR_147607.1:n.281C>T, NR_147608.1:n.273C>T

Select item 148318819414.

rs1483188194 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:559869 (GRCh38)
11:559869 (GRCh37)
Canonical SPDI:: NC_000011.10:559868:C:T
Gene:: RASSF7 (Varview), LMNTD2 (Varview), LMNTD2-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,non_coding_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.559869C>T, NC_000011.9:g.559869C>T, NT_187586.1:g.89528C>T, XM_011519965.3:c.-285G>A, XM_011519967.3:c.-285G>A, XM_017017479.3:c.-285G>A, XM_047426712.1:c.-285G>A, XM_047426714.1:c.-285G>A, NR_147607.1:n.306C>T, NR_147608.1:n.298C>T

Select item 148307959715.

rs1483079597 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 11:560544 (GRCh38)
11:560545 (GRCh37)
Canonical SPDI:: NC_000011.10:560544:GGGG:GGGGG
Gene:: RASSF7 (Varview), LMNTD2 (Varview), LMNTD2-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
G=0.000042/11 (TOPMED)
G=0.000064/9 (GnomAD)
HGVS:: NC_000011.10:g.560548dup, NC_000011.9:g.560548dup, NT_187586.1:g.90203dup, XM_011519965.3:c.-961dup, XM_011519967.3:c.-961dup, XM_017017479.3:c.-961dup, XM_047426712.1:c.-961dup, XM_047426714.1:c.-961dup

Select item 148287709516.

rs1482877095 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:560190 (GRCh38)
11:560190 (GRCh37)
Canonical SPDI:: NC_000011.10:560189:C:G
Gene:: RASSF7 (Varview), LMNTD2 (Varview), LMNTD2-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.560190C>G, NC_000011.9:g.560190C>G, NT_187586.1:g.89845C>G, XM_011519965.3:c.-606G>C, XM_011519967.3:c.-606G>C, XM_017017479.3:c.-606G>C, XM_047426712.1:c.-606G>C, XM_047426714.1:c.-606G>C

Select item 148254705217.

rs1482547052 has merged into rs762051630 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 11:557574 (GRCh38)
11:557574 (GRCh37)
Canonical SPDI:: NC_000011.10:557573:CCCC:CCC,NC_000011.10:557573:CCCC:CCCCC
Gene:: LMNTD2 (Varview), LMNTD2-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000008/1 (ExAC)
-=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.557577del, NC_000011.10:g.557577dup, NC_000011.9:g.557577del, NC_000011.9:g.557577dup, NT_187586.1:g.87236del, NT_187586.1:g.87236dup, XM_011519965.3:c.841del, XM_011519965.3:c.841dup, XM_011519965.2:c.841del, XM_011519965.2:c.841dup, XM_011519965.1:c.658del, XM_011519965.1:c.658dup, XM_011519967.3:c.841del, XM_011519967.3:c.841dup, XM_011519967.2:c.841del, XM_011519967.2:c.841dup, XM_011519967.1:c.658del, XM_011519967.1:c.658dup, XM_017017479.3:c.841del, XM_017017479.3:c.841dup, XM_017017479.2:c.841del, XM_017017479.2:c.841dup, XM_017017479.1:c.841del, XM_017017479.1:c.841dup, NM_173573.3:c.622del, NM_173573.3:c.622dup, NM_173573.2:c.622del, NM_173573.2:c.622dup, XM_047426712.1:c.826del, XM_047426712.1:c.826dup, XM_047426714.1:c.841del, XM_047426714.1:c.841dup, XM_047426713.1:c.637del, XM_047426713.1:c.637dup, XP_011518267.2:p.Glu281fs, XP_011518267.2:p.Glu281fs, XP_011518269.2:p.Glu281fs, XP_011518269.2:p.Glu281fs, XP_016872968.1:p.Glu281fs, XP_016872968.1:p.Glu281fs, NP_775844.2:p.Glu208fs, NP_775844.2:p.Glu208fs, XP_047282668.1:p.Glu276fs, XP_047282668.1:p.Glu276fs, XP_047282670.1:p.Glu281fs, XP_047282670.1:p.Glu281fs, XP_047282669.1:p.Glu213fs, XP_047282669.1:p.Glu213fs

Select item 148178221218.

rs1481782212 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:559382 (GRCh38)
11:559382 (GRCh37)
Canonical SPDI:: NC_000011.10:559381:G:A,NC_000011.10:559381:G:T
Gene:: RASSF7 (Varview), LMNTD2 (Varview), LMNTD2-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000007/1 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.559382G>A, NC_000011.10:g.559382G>T, NC_000011.9:g.559382G>A, NC_000011.9:g.559382G>T, NT_187586.1:g.89041G>A, NT_187586.1:g.89041G>T, XM_011519965.3:c.203C>T, XM_011519965.3:c.203C>A, XM_011519965.2:c.203C>T, XM_011519965.2:c.203C>A, XM_011519965.1:c.20C>T, XM_011519965.1:c.20C>A, XM_011519967.3:c.203C>T, XM_011519967.3:c.203C>A, XM_011519967.2:c.203C>T, XM_011519967.2:c.203C>A, XM_011519967.1:c.20C>T, XM_011519967.1:c.20C>A, XM_017017479.3:c.203C>T, XM_017017479.3:c.203C>A, XM_017017479.2:c.203C>T, XM_017017479.2:c.203C>A, XM_017017479.1:c.203C>T, XM_017017479.1:c.203C>A, XM_047426712.1:c.203C>T, XM_047426712.1:c.203C>A, XM_047426714.1:c.203C>T, XM_047426714.1:c.203C>A, NR_147607.1:n.121G>A, NR_147607.1:n.121G>T, XP_011518267.2:p.Pro68Leu, XP_011518267.2:p.Pro68His, XP_011518269.2:p.Pro68Leu, XP_011518269.2:p.Pro68His, XP_016872968.1:p.Pro68Leu, XP_016872968.1:p.Pro68His, XP_047282668.1:p.Pro68Leu, XP_047282668.1:p.Pro68His, XP_047282670.1:p.Pro68Leu, XP_047282670.1:p.Pro68His

Select item 148130311919.

rs1481303119 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:557421 (GRCh38)
11:557421 (GRCh37)
Canonical SPDI:: NC_000011.10:557420:T:C
Gene:: LMNTD2 (Varview), LMNTD2-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.557421T>C, NC_000011.9:g.557421T>C, NT_187586.1:g.87080T>C, XM_011519965.3:c.910A>G, XM_011519965.2:c.910A>G, XM_011519965.1:c.727A>G, XM_011519967.3:c.910A>G, XM_011519967.2:c.910A>G, XM_011519967.1:c.727A>G, XM_017017479.3:c.910A>G, XM_017017479.2:c.910A>G, XM_017017479.1:c.910A>G, NM_173573.3:c.691A>G, NM_173573.2:c.691A>G, XM_047426712.1:c.895A>G, XM_047426714.1:c.910A>G, XM_047426713.1:c.706A>G, XP_011518267.2:p.Met304Val, XP_011518269.2:p.Met304Val, XP_016872968.1:p.Met304Val, NP_775844.2:p.Met231Val, XP_047282668.1:p.Met299Val, XP_047282670.1:p.Met304Val, XP_047282669.1:p.Met236Val

Select item 147857032820.

rs1478570328 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:560180 (GRCh38)
11:560180 (GRCh37)
Canonical SPDI:: NC_000011.10:560179:A:C
Gene:: RASSF7 (Varview), LMNTD2 (Varview), LMNTD2-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.560180A>C, NC_000011.9:g.560180A>C, NT_187586.1:g.89835A>C, XM_011519965.3:c.-596T>G, XM_011519967.3:c.-596T>G, XM_017017479.3:c.-596T>G, XM_047426712.1:c.-596T>G, XM_047426714.1:c.-596T>G

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