SNP Links for Protein (Select 768012679) - SNP

Links from Protein

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Select item 14905774211.

rs1490577421 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:45761855 (GRCh38)
19:46265113 (GRCh37)
Canonical SPDI:: NC_000019.10:45761854:G:C
Gene:: MEIOSIN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.45761855G>C, NC_000019.9:g.46265113G>C, XM_011527573.4:c.1386G>C, XM_011527573.3:c.1386G>C, XM_011527573.2:c.1386G>C, XM_011527573.1:c.1386G>C, XM_011527571.3:c.1440G>C, XM_011527571.2:c.1440G>C, XM_011527571.1:c.1440G>C, XM_011527574.3:c.1335G>C, XM_011527574.2:c.1335G>C, XM_011527574.1:c.1335G>C, NM_001310124.2:c.1422G>C, NM_001310124.1:c.1422G>C, XP_011525875.1:p.Trp462Cys, XP_011525873.1:p.Trp480Cys, XP_011525876.1:p.Trp445Cys, NP_001297053.1:p.Trp474Cys

Select item 14885024742.

rs1488502474 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:45761851 (GRCh38)
19:46265109 (GRCh37)
Canonical SPDI:: NC_000019.10:45761850:T:C
Gene:: MEIOSIN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.45761851T>C, NC_000019.9:g.46265109T>C, XM_011527573.4:c.1382T>C, XM_011527573.3:c.1382T>C, XM_011527573.2:c.1382T>C, XM_011527573.1:c.1382T>C, XM_011527571.3:c.1436T>C, XM_011527571.2:c.1436T>C, XM_011527571.1:c.1436T>C, XM_011527574.3:c.1331T>C, XM_011527574.2:c.1331T>C, XM_011527574.1:c.1331T>C, NM_001310124.2:c.1418T>C, NM_001310124.1:c.1418T>C, XP_011525875.1:p.Leu461Pro, XP_011525873.1:p.Leu479Pro, XP_011525876.1:p.Leu444Pro, NP_001297053.1:p.Leu473Pro

Select item 14884432733.

rs1488443273 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:45762081 (GRCh38)
19:46265339 (GRCh37)
Canonical SPDI:: NC_000019.10:45762080:A:C
Gene:: MEIOSIN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000043/6 (GnomAD)
HGVS:: NC_000019.10:g.45762081A>C, NC_000019.9:g.46265339A>C, XM_011527573.4:c.1541A>C, XM_011527573.3:c.1541A>C, XM_011527573.2:c.1541A>C, XM_011527573.1:c.1541A>C, XM_011527571.3:c.1595A>C, XM_011527571.2:c.1595A>C, XM_011527571.1:c.1595A>C, XM_011527574.3:c.1490A>C, XM_011527574.2:c.1490A>C, XM_011527574.1:c.1490A>C, NM_001310124.2:c.1577A>C, NM_001310124.1:c.1577A>C, XP_011525875.1:p.Lys514Thr, XP_011525873.1:p.Lys532Thr, XP_011525876.1:p.Lys497Thr, NP_001297053.1:p.Lys526Thr

Select item 14875402534.

rs1487540253 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:45762097 (GRCh38)
19:46265355 (GRCh37)
Canonical SPDI:: NC_000019.10:45762096:G:T
Gene:: MEIOSIN (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000019.10:g.45762097G>T, NC_000019.9:g.46265355G>T, XM_011527573.4:c.1557G>T, XM_011527573.3:c.1557G>T, XM_011527573.2:c.1557G>T, XM_011527573.1:c.1557G>T, XM_011527571.3:c.1611G>T, XM_011527571.2:c.1611G>T, XM_011527571.1:c.1611G>T, XM_011527574.3:c.1506G>T, XM_011527574.2:c.1506G>T, XM_011527574.1:c.1506G>T, NM_001310124.2:c.1593G>T, NM_001310124.1:c.1593G>T, XP_011525875.1:p.Lys519Asn, XP_011525873.1:p.Lys537Asn, XP_011525876.1:p.Lys502Asn, NP_001297053.1:p.Lys531Asn

Select item 14862384945.

rs1486238494 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:45754700 (GRCh38)
19:46257958 (GRCh37)
Canonical SPDI:: NC_000019.10:45754699:G:T
Gene:: MEIOSIN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.45754700G>T, NC_000019.9:g.46257958G>T, XM_011527573.4:c.742G>T, XM_011527573.3:c.742G>T, XM_011527573.2:c.742G>T, XM_011527573.1:c.742G>T, XM_011527571.3:c.796G>T, XM_011527571.2:c.796G>T, XM_011527571.1:c.796G>T, XM_011527574.3:c.691G>T, XM_011527574.2:c.691G>T, XM_011527574.1:c.691G>T, NM_001310124.2:c.778G>T, NM_001310124.1:c.778G>T, NR_038267.1:n.703G>T, XP_011525875.1:p.Asp248Tyr, XP_011525873.1:p.Asp266Tyr, XP_011525876.1:p.Asp231Tyr, NP_001297053.1:p.Asp260Tyr

Select item 14860947356.

rs1486094735 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:45759415 (GRCh38)
19:46262673 (GRCh37)
Canonical SPDI:: NC_000019.10:45759414:G:A
Gene:: MEIOSIN (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
A=0.000035/1 (TOMMO)
A=0.000079/11 (GnomAD_exomes)
A=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.45759415G>A, NC_000019.9:g.46262673G>A, XM_011527573.4:c.1134G>A, XM_011527573.3:c.1134G>A, XM_011527573.2:c.1134G>A, XM_011527573.1:c.1134G>A, XM_011527571.3:c.1188G>A, XM_011527571.2:c.1188G>A, XM_011527571.1:c.1188G>A, XM_011527574.3:c.1083G>A, XM_011527574.2:c.1083G>A, XM_011527574.1:c.1083G>A, NM_001310124.2:c.1170G>A, NM_001310124.1:c.1170G>A, NR_038267.1:n.1095G>A

Select item 14858789267.

rs1485878926 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:45753660 (GRCh38)
19:46256918 (GRCh37)
Canonical SPDI:: NC_000019.10:45753659:A:G
Gene:: MEIOSIN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.45753660A>G, NC_000019.9:g.46256918A>G, XM_011527573.4:c.392A>G, XM_011527573.3:c.392A>G, XM_011527573.2:c.392A>G, XM_011527573.1:c.392A>G, XM_011527571.3:c.446A>G, XM_011527571.2:c.446A>G, XM_011527571.1:c.446A>G, XM_011527574.3:c.341A>G, XM_011527574.2:c.341A>G, XM_011527574.1:c.341A>G, NM_001310124.2:c.428A>G, NM_001310124.1:c.428A>G, NR_038267.1:n.353A>G, XP_011525875.1:p.Gln131Arg, XP_011525873.1:p.Gln149Arg, XP_011525876.1:p.Gln114Arg, NP_001297053.1:p.Gln143Arg

Select item 14851142608.

rs1485114260 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:45761859 (GRCh38)
19:46265117 (GRCh37)
Canonical SPDI:: NC_000019.10:45761858:C:T
Gene:: MEIOSIN (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
HGVS:: NC_000019.10:g.45761859C>T, NC_000019.9:g.46265117C>T, XM_011527573.4:c.1390C>T, XM_011527573.3:c.1390C>T, XM_011527573.2:c.1390C>T, XM_011527573.1:c.1390C>T, XM_011527571.3:c.1444C>T, XM_011527571.2:c.1444C>T, XM_011527571.1:c.1444C>T, XM_011527574.3:c.1339C>T, XM_011527574.2:c.1339C>T, XM_011527574.1:c.1339C>T, NM_001310124.2:c.1426C>T, NM_001310124.1:c.1426C>T, XP_011525875.1:p.Gln464Ter, XP_011525873.1:p.Gln482Ter, XP_011525876.1:p.Gln447Ter, NP_001297053.1:p.Gln476Ter

Select item 14829718399.

rs1482971839 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:45745237 (GRCh38)
19:46248495 (GRCh37)
Canonical SPDI:: NC_000019.10:45745236:G:A
Gene:: MEIOSIN (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45745237G>A, NC_000019.9:g.46248495G>A, XM_011527573.4:c.186G>A, XM_011527573.3:c.186G>A, XM_011527573.2:c.186G>A, XM_011527573.1:c.186G>A, XM_011527571.3:c.240G>A, XM_011527571.2:c.240G>A, XM_011527571.1:c.240G>A, XM_011527574.3:c.135G>A, XM_011527574.2:c.135G>A, XM_011527574.1:c.135G>A, NM_001310124.2:c.222G>A, NM_001310124.1:c.222G>A, NR_038267.1:n.147G>A

Select item 148197884510.

rs1481978845 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:45739700 (GRCh38)
19:46242958 (GRCh37)
Canonical SPDI:: NC_000019.10:45739699:A:T
Gene:: MEIOSIN (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45739700A>T, NC_000019.9:g.46242958A>T, XM_011527573.4:c.110A>T, XM_011527573.3:c.110A>T, XM_011527573.2:c.110A>T, XM_011527573.1:c.110A>T, XM_011527571.3:c.164A>T, XM_011527571.2:c.164A>T, XM_011527571.1:c.164A>T, NM_001310124.2:c.146A>T, NM_001310124.1:c.146A>T, NR_038267.1:n.71A>T, XP_011525875.1:p.Glu37Val, XP_011525873.1:p.Glu55Val, NP_001297053.1:p.Glu49Val

Select item 147900283211.

rs1479002832 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:45759016 (GRCh38)
19:46262274 (GRCh37)
Canonical SPDI:: NC_000019.10:45759015:T:C
Gene:: MEIOSIN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000007/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.45759016T>C, NC_000019.9:g.46262274T>C, XM_011527573.4:c.1115T>C, XM_011527573.3:c.1115T>C, XM_011527573.2:c.1115T>C, XM_011527573.1:c.1115T>C, XM_011527571.3:c.1169T>C, XM_011527571.2:c.1169T>C, XM_011527571.1:c.1169T>C, XM_011527574.3:c.1064T>C, XM_011527574.2:c.1064T>C, XM_011527574.1:c.1064T>C, NM_001310124.2:c.1151T>C, NM_001310124.1:c.1151T>C, NR_038267.1:n.1076T>C, XP_011525875.1:p.Met372Thr, XP_011525873.1:p.Met390Thr, XP_011525876.1:p.Met355Thr, NP_001297053.1:p.Met384Thr

Select item 147888916112.

rs1478889161 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:45761736 (GRCh38)
19:46264994 (GRCh37)
Canonical SPDI:: NC_000019.10:45761735:T:C
Gene:: MEIOSIN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45761736T>C, NC_000019.9:g.46264994T>C, XM_011527573.4:c.1267T>C, XM_011527573.3:c.1267T>C, XM_011527573.2:c.1267T>C, XM_011527573.1:c.1267T>C, XM_011527571.3:c.1321T>C, XM_011527571.2:c.1321T>C, XM_011527571.1:c.1321T>C, XM_011527574.3:c.1216T>C, XM_011527574.2:c.1216T>C, XM_011527574.1:c.1216T>C, NM_001310124.2:c.1303T>C, NM_001310124.1:c.1303T>C, XP_011525875.1:p.Ser423Pro, XP_011525873.1:p.Ser441Pro, XP_011525876.1:p.Ser406Pro, NP_001297053.1:p.Ser435Pro

Select item 147714113013.

rs1477141130 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:45745252 (GRCh38)
19:46248510 (GRCh37)
Canonical SPDI:: NC_000019.10:45745251:T:C
Gene:: MEIOSIN (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.45745252T>C, NC_000019.9:g.46248510T>C, XM_011527573.4:c.201T>C, XM_011527573.3:c.201T>C, XM_011527573.2:c.201T>C, XM_011527573.1:c.201T>C, XM_011527571.3:c.255T>C, XM_011527571.2:c.255T>C, XM_011527571.1:c.255T>C, XM_011527574.3:c.150T>C, XM_011527574.2:c.150T>C, XM_011527574.1:c.150T>C, NM_001310124.2:c.237T>C, NM_001310124.1:c.237T>C, NR_038267.1:n.162T>C

Select item 147562909314.

rs1475629093 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 19:45756021 (GRCh38)
19:46259279 (GRCh37)
Canonical SPDI:: NC_000019.10:45756020:T:A,NC_000019.10:45756020:T:C
Gene:: MEIOSIN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.45756021T>A, NC_000019.10:g.45756021T>C, NC_000019.9:g.46259279T>A, NC_000019.9:g.46259279T>C, XM_011527573.4:c.818T>A, XM_011527573.4:c.818T>C, XM_011527573.3:c.818T>A, XM_011527573.3:c.818T>C, XM_011527573.2:c.818T>A, XM_011527573.2:c.818T>C, XM_011527573.1:c.818T>A, XM_011527573.1:c.818T>C, XM_011527571.3:c.872T>A, XM_011527571.3:c.872T>C, XM_011527571.2:c.872T>A, XM_011527571.2:c.872T>C, XM_011527571.1:c.872T>A, XM_011527571.1:c.872T>C, XM_011527574.3:c.767T>A, XM_011527574.3:c.767T>C, XM_011527574.2:c.767T>A, XM_011527574.2:c.767T>C, XM_011527574.1:c.767T>A, XM_011527574.1:c.767T>C, NM_001310124.2:c.854T>A, NM_001310124.2:c.854T>C, NM_001310124.1:c.854T>A, NM_001310124.1:c.854T>C, NR_038267.1:n.779T>A, NR_038267.1:n.779T>C, XP_011525875.1:p.Leu273Gln, XP_011525875.1:p.Leu273Pro, XP_011525873.1:p.Leu291Gln, XP_011525873.1:p.Leu291Pro, XP_011525876.1:p.Leu256Gln, XP_011525876.1:p.Leu256Pro, NP_001297053.1:p.Leu285Gln, NP_001297053.1:p.Leu285Pro

Select item 147561704415.

rs1475617044 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAGCTC,TAGCTC [Show Flanks]
Chromosome:: 19:45761792 (GRCh38)
19:46265051 (GRCh37)
Canonical SPDI:: NC_000019.10:45761792:AGCTC:AGCTCAAGCTC,NC_000019.10:45761792:AGCTC:AGCTCTAGCTC
Gene:: MEIOSIN (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000019.10:g.45761797_45761798insAAGCTC, NC_000019.10:g.45761797_45761798insTAGCTC, NC_000019.9:g.46265055_46265056insAAGCTC, NC_000019.9:g.46265055_46265056insTAGCTC, XM_011527573.4:c.1328_1329insAAGCTC, XM_011527573.4:c.1328_1329insTAGCTC, XM_011527573.3:c.1328_1329insAAGCTC, XM_011527573.3:c.1328_1329insTAGCTC, XM_011527573.2:c.1328_1329insAAGCTC, XM_011527573.2:c.1328_1329insTAGCTC, XM_011527573.1:c.1328_1329insAAGCTC, XM_011527573.1:c.1328_1329insTAGCTC, XM_011527571.3:c.1382_1383insAAGCTC, XM_011527571.3:c.1382_1383insTAGCTC, XM_011527571.2:c.1382_1383insAAGCTC, XM_011527571.2:c.1382_1383insTAGCTC, XM_011527571.1:c.1382_1383insAAGCTC, XM_011527571.1:c.1382_1383insTAGCTC, XM_011527574.3:c.1277_1278insAAGCTC, XM_011527574.3:c.1277_1278insTAGCTC, XM_011527574.2:c.1277_1278insAAGCTC, XM_011527574.2:c.1277_1278insTAGCTC, XM_011527574.1:c.1277_1278insAAGCTC, XM_011527574.1:c.1277_1278insTAGCTC, NM_001310124.2:c.1364_1365insAAGCTC, NM_001310124.2:c.1364_1365insTAGCTC, NM_001310124.1:c.1364_1365insAAGCTC, NM_001310124.1:c.1364_1365insTAGCTC, XP_011525875.1:p.Ser452_Ser453dup, XP_011525875.1:p.Ser452_Ser453dup, XP_011525873.1:p.Ser470_Ser471dup, XP_011525873.1:p.Ser470_Ser471dup, XP_011525876.1:p.Ser435_Ser436dup, XP_011525876.1:p.Ser435_Ser436dup, NP_001297053.1:p.Ser464_Ser465dup, NP_001297053.1:p.Ser464_Ser465dup

Select item 147557798616.

rs1475577986 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:45759032 (GRCh38)
19:46262290 (GRCh37)
Canonical SPDI:: NC_000019.10:45759031:A:G
Gene:: MEIOSIN (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45759032A>G, NC_000019.9:g.46262290A>G, XM_011527573.4:c.1131A>G, XM_011527573.3:c.1131A>G, XM_011527573.2:c.1131A>G, XM_011527573.1:c.1131A>G, XM_011527571.3:c.1185A>G, XM_011527571.2:c.1185A>G, XM_011527571.1:c.1185A>G, XM_011527574.3:c.1080A>G, XM_011527574.2:c.1080A>G, XM_011527574.1:c.1080A>G, NM_001310124.2:c.1167A>G, NM_001310124.1:c.1167A>G, NR_038267.1:n.1092A>G

Select item 147521696717.

rs1475216967 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:45758947 (GRCh38)
19:46262205 (GRCh37)
Canonical SPDI:: NC_000019.10:45758946:T:C
Gene:: MEIOSIN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.45758947T>C, NC_000019.9:g.46262205T>C, XM_011527573.4:c.1046T>C, XM_011527573.3:c.1046T>C, XM_011527573.2:c.1046T>C, XM_011527573.1:c.1046T>C, XM_011527571.3:c.1100T>C, XM_011527571.2:c.1100T>C, XM_011527571.1:c.1100T>C, XM_011527574.3:c.995T>C, XM_011527574.2:c.995T>C, XM_011527574.1:c.995T>C, NM_001310124.2:c.1082T>C, NM_001310124.1:c.1082T>C, NR_038267.1:n.1007T>C, XP_011525875.1:p.Leu349Pro, XP_011525873.1:p.Leu367Pro, XP_011525876.1:p.Leu332Pro, NP_001297053.1:p.Leu361Pro

Select item 147168884818.

rs1471688848 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:45759463 (GRCh38)
19:46262721 (GRCh37)
Canonical SPDI:: NC_000019.10:45759462:C:G
Gene:: MEIOSIN (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.45759463C>G, NC_000019.9:g.46262721C>G, XM_011527573.4:c.1182C>G, XM_011527573.3:c.1182C>G, XM_011527573.2:c.1182C>G, XM_011527573.1:c.1182C>G, XM_011527571.3:c.1236C>G, XM_011527571.2:c.1236C>G, XM_011527571.1:c.1236C>G, XM_011527574.3:c.1131C>G, XM_011527574.2:c.1131C>G, XM_011527574.1:c.1131C>G, NM_001310124.2:c.1218C>G, NM_001310124.1:c.1218C>G, NR_038267.1:n.1143C>G

Select item 147009690719.

rs1470096907 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:45754579 (GRCh38)
19:46257837 (GRCh37)
Canonical SPDI:: NC_000019.10:45754578:G:A,NC_000019.10:45754578:G:C
Gene:: MEIOSIN (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.45754579G>A, NC_000019.10:g.45754579G>C, NC_000019.9:g.46257837G>A, NC_000019.9:g.46257837G>C, XM_011527573.4:c.621G>A, XM_011527573.4:c.621G>C, XM_011527573.3:c.621G>A, XM_011527573.3:c.621G>C, XM_011527573.2:c.621G>A, XM_011527573.2:c.621G>C, XM_011527573.1:c.621G>A, XM_011527573.1:c.621G>C, XM_011527571.3:c.675G>A, XM_011527571.3:c.675G>C, XM_011527571.2:c.675G>A, XM_011527571.2:c.675G>C, XM_011527571.1:c.675G>A, XM_011527571.1:c.675G>C, XM_011527574.3:c.570G>A, XM_011527574.3:c.570G>C, XM_011527574.2:c.570G>A, XM_011527574.2:c.570G>C, XM_011527574.1:c.570G>A, XM_011527574.1:c.570G>C, NM_001310124.2:c.657G>A, NM_001310124.2:c.657G>C, NM_001310124.1:c.657G>A, NM_001310124.1:c.657G>C, NR_038267.1:n.582G>A, NR_038267.1:n.582G>C

Select item 146985350520.

rs1469853505 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:45756015 (GRCh38)
19:46259273 (GRCh37)
Canonical SPDI:: NC_000019.10:45756014:C:T
Gene:: MEIOSIN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000052/7 (GnomAD_exomes)
T=0.000078/11 (GnomAD)
HGVS:: NC_000019.10:g.45756015C>T, NC_000019.9:g.46259273C>T, XM_011527573.4:c.812C>T, XM_011527573.3:c.812C>T, XM_011527573.2:c.812C>T, XM_011527573.1:c.812C>T, XM_011527571.3:c.866C>T, XM_011527571.2:c.866C>T, XM_011527571.1:c.866C>T, XM_011527574.3:c.761C>T, XM_011527574.2:c.761C>T, XM_011527574.1:c.761C>T, NM_001310124.2:c.848C>T, NM_001310124.1:c.848C>T, NR_038267.1:n.773C>T, XP_011525875.1:p.Ala271Val, XP_011525873.1:p.Ala289Val, XP_011525876.1:p.Ala254Val, NP_001297053.1:p.Ala283Val

dbSNP

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